GGRNA ver.2 Help | Advanced search | Japanese    Previous release (v1)

2024-11-23 17:17:17, GGRNA : RefSeq release 226 (Sep, 2024)

Summary:

Results:

Matches are highlighted with green background. Overlapping matches are dark colored.

Homo sapiens microfibril associated protein 5 (MFAP5), transcript variant 1, mRNA. (2872 bp)
isoform a precursor" /protein_id="NP_003471.1" /db_xref="CCDS:CCDS8595.1" /db_xref="GeneID:8076" /db_xref="HGNC:HGNC:29673" /db_xref="MIM:601103" /translation="MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTEDPNLVNDPATDETVLAVLADIAPSTDDLASLSEKNTTAECWDEKFTCTRLYSVHRPVKQCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLPPCENVDLQRPNGL" sig_peptide 203..286 /gene="MFAP5" /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25" /inference="COORDINATES: ab initio prediction:SignalP:4.0" misc_feature 209..631 /gene="MFAP5" /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25" /note="Microfibril-associated...
AA_position 136
Synonym: AAT9; MAGP-2; MAGP2; MFAP-5; MP25
NM_003480.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 2, mRNA. (3772 bp)
regulatory complex protein 8 isoform b" /protein_id="NP_001137415.1" /db_xref="CCDS:CCDS44341.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEDGVSLRRPG" misc_feature 91..>456 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 92 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:918585141" variation 94 /gene...
AA_position 114
Synonym: CFAP200; DRC8
NM_001143943.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 5, mRNA. (1107 bp)
product="dynein regulatory complex protein 8 isoform c" /protein_id="NP_001277256.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MEGGRRDHHTMTVLWGTQEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVIDEN" misc_feature 175..615 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 113 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="t" /db_xref="dbSNP:762548922"...
AA_position 124
Synonym: CFAP200; DRC8
NM_001290327.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 1, mRNA. (1418 bp)
regulatory complex protein 8 isoform a" /protein_id="NP_115704.1" /db_xref="CCDS:CCDS31082.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVIDEN" misc_feature 453..926 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 454 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP...
AA_position 114
Synonym: CFAP200; DRC8
NM_032328.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens testis expressed 48 (TEX48), transcript variant 4, mRNA. (831 bp)
TEX48" /note="isoform 2 is encoded by transcript variant 4; testis-expressed protein 48" /codon_start=1 /product="testis-expressed protein 48 isoform 2" /protein_id="NP_001358813.1" /db_xref="GeneID:100505478" /db_xref="HGNC:HGNC:52393" /translation="MAHQNLILKIFCLCCRDCQEPYAINDSKVPSQTQEHKPSTQNLLLQKDELDRQNPKRINAVSHLPSRTPLIQTKKSTEFEDLNAYASQRNFYKRNLNRYCQEHWPFQPCLTGRP" variation 264 /gene="TEX48" /replace="c" /replace="t" /db_xref="dbSNP:1302157994" exon 267..386 /gene="TEX48" /inference="alignment:Splign:2.1.0" variation 267 /gene="TEX48" /replace="c" /replace="t" /db_xref="dbSNP:1827945621"...
AA_position 47
NM_001371884.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens testis expressed 48 (TEX48), transcript variant 1, mRNA. (834 bp)
by transcript variant 1; testis-expressed protein 48" /codon_start=1 /product="testis-expressed protein 48 isoform 1" /protein_id="NP_001186162.1" /db_xref="CCDS:CCDS83406.1" /db_xref="GeneID:100505478" /db_xref="HGNC:HGNC:52393" /translation="MAAHQNLILKIFCLCCRDCQEPYAINDSKVPSQTQEHKPSTQNLLLQKDELDRQNPKRINAVSHLPSRTPLIQTKKSTEFEDLNAYASQRNFYKRNLNRYCQEHWPFQPCLTGRP" misc_feature 347..520 /gene="TEX48" /note="propagated from UniProtKB/Swiss-Prot (A0A1B0GUV7.1); Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" variation 264 /gene="TEX48" /replace="c" /replace="t" /db_xref="dbSNP:1302157994"...
AA_position 48
NM_001199233.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens ring finger protein 122 (RNF122), mRNA. (1872 bp)
codon_start=1 /product="RING finger protein 122" /protein_id="NP_079063.2" /db_xref="CCDS:CCDS6091.1" /db_xref="GeneID:79845" /db_xref="HGNC:HGNC:21147" /db_xref="MIM:620523" /translation="MHPFQWCNGCFCGLGLVSTNKSCSMPPISFQDLPLNIYMVIFGTGIFVFMLSLIFCCYFISKLRNQAQSERYGYKEVVLKGDAKKLQLYGQTCAVCLEDFKGKDELGVLPCQHAFHRKCLVKWLEVRCVCPMCNKPIASPSEATQNIGILLDELV" misc_feature 523..585 /gene="RNF122" /note="propagated from UniProtKB/Swiss-Prot (Q9H9V4.2); transmembrane region" misc_feature 676..816 /gene="RNF122" /note="RING finger, H2 subclass, found in RING finger protein 122 (RNF122) and similar proteins;...
AA_position 103
NM_024787.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens dystrobrevin alpha (DTNA), transcript variant 8, mRNA. (3575 bp)
isoform 8" /protein_id="NP_116763.1" /db_xref="CCDS:CCDS59314.1" /db_xref="GeneID:1837" /db_xref="HGNC:HGNC:3057" /db_xref="MIM:601239" /translation="MFPDQPEKPLNLAHIVPPRPVTSMNDTLFSHSVPSSGSPFITRSMLESSNRLDEEHRLIARYAARLAAESSSSQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS" misc_feature 637..>849 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="seryl-tRNA synthetase; Provisional; Region: PRK05431" /db_xref="CDD:235461" variation 346 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /replace="...
AA_position 147
Synonym: D18S892E; DRP3; DTN; DTN-A; LVNC1
NM_032981.5 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens nuclear factor I B (NFIB), transcript variant 28, mRNA. (1458 bp)
box-binding transcription factor" /codon_start=1 /product="nuclear factor 1 B-type isoform 28" /protein_id="NP_001356410.1" /db_xref="CCDS:CCDS94387.1" /db_xref="GeneID:4781" /db_xref="HGNC:HGNC:7785" /db_xref="MIM:600728" /translation="MMYSPICLTQDEFHPFIEALLPHVRAIAYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLSEKPEIKQKWASRLLAKLRKDIRQEYREDFVLTVTGKKHPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGIPLESTDGERLMKSPHCTNPALCVQPHHITVSVKELDLFLAYYVQEQGKNFFSSNKCIKI" misc_feature 658..771 /gene="NFIB" /gene_synonym="CTF; HMGIC/NFIB; MACID; NF-I/B; NF1-B; NFI-B; NFI-RED; NFIB2; NFIB3" /note="Nuclear factor I protein pre-N-...
AA_position 58
Synonym: CTF; HMGIC/NFIB; MACID; NF-I/B; NF1-B; NFI-B; NFI-RED; NFIB2; NFIB3
NM_001369481.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit (METTL14), transcript variant X1, mRNA. (1147 bp)
hMETTL14" /codon_start=1 /product="N6-adenosine-methyltransferase non-catalytic subunit isoform X1" /protein_id="XP_054206606.1" /db_xref="GeneID:57721" /db_xref="HGNC:HGNC:29330" /db_xref="MIM:616504" /translation="MDSRLQEIRERQKLRRQLLAQQLGAESADSIGAVLNSKDEQREIAETRETCRASYDTSAPNAKRKYLDEGETDEDKMEEYKDELEMQQDEENLPYEEEIYKDSSTFLKGTQSLNPHNDYCQHFVDTGHRPQNFIRDVGLADRFEEYPKLRELIRLKDELIAKSNTPPMYLQADIEAFDIRELTPKFDVILLEPPLEEYYRETGITANEKCWTWDDIMKLEIDEIAAPRSFIFLWCGSGEGLDLGRVGELPTGFPVVERKLVGSVYENGVTEDVKIFVGLKPIKTILGRLRL" misc_feature 699..>881 /gene="METTL14" /gene_synonym="hMETTL14" /note="Region: MT-A70;...
AA_position 81
Synonym: hMETTL14
XM_054350631.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit (METTL14), transcript variant X1, mRNA. (1147 bp)
hMETTL14" /codon_start=1 /product="N6-adenosine-methyltransferase non-catalytic subunit isoform X1" /protein_id="XP_047271985.1" /db_xref="GeneID:57721" /db_xref="HGNC:HGNC:29330" /db_xref="MIM:616504" /translation="MDSRLQEIRERQKLRRQLLAQQLGAESADSIGAVLNSKDEQREIAETRETCRASYDTSAPNAKRKYLDEGETDEDKMEEYKDELEMQQDEENLPYEEEIYKDSSTFLKGTQSLNPHNDYCQHFVDTGHRPQNFIRDVGLADRFEEYPKLRELIRLKDELIAKSNTPPMYLQADIEAFDIRELTPKFDVILLEPPLEEYYRETGITANEKCWTWDDIMKLEIDEIAAPRSFIFLWCGSGEGLDLGRVGELPTGFPVVERKLVGSVYENGVTEDVKIFVGLKPIKTILGRLRL" misc_feature 699..>881 /gene="METTL14" /gene_synonym="hMETTL14" /note="Region: MT-A70;...
AA_position 81
Synonym: hMETTL14
XM_047416029.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens ribosomal protein S5 (RPS5), mRNA. (741 bp)
CCDS:CCDS12978.1" /db_xref="GeneID:6193" /db_xref="HGNC:HGNC:10426" /db_xref="MIM:603630" /translation="MTEWETAAPAVAETPDIKLFGKWSTDDVQINDISLQDYIAVKEKYAKYLPHSAGRYAAKRFRKAQCPIVERLTNSMMMHGRNNGKKLMTVRIVKHAFEIIHLLTGENPLQVLVNAIINSGPREDSTRIGRAGTVRRQAVDVSPLRRVNQAIWLLCTGAREAAFRNIKTIAECLADELINAAKGSSNSYAIKKKDELERVAKSNR" misc_feature 73..75 /gene="RPS5" /gene_synonym="S5; uS7" /note="N-acetylmethionine, in 40S ribosomal protein S5, alternate. /evidence=ECO:0000269|Ref.7, ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:25944712; propagated from UniProtKB/Swiss-Prot (P46782.4);...
AA_position 193
Synonym: S5; uS7
NM_001009.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens S100 calcium binding protein G (S100G), transcript variant X1, mRNA. (551 bp)
HGNC:1436" /db_xref="MIM:302020" CDS 151..390 /gene="S100G" /gene_synonym="CABP; CABP1; CABP9K; CALB3" /codon_start=1 /product="protein S100-G isoform X1" /protein_id="XP_054183844.1" /db_xref="GeneID:795" /db_xref="HGNC:HGNC:1436" /db_xref="MIM:302020" /translation="MSTKKSPEELKRIFEKYAAKEGDPDQLSKDELKLLIQAEFPSLLKGPNTLDDLFQELDKNGDGEVSFEEFQVLVKKISQ" misc_feature 184..387 /gene="S100G" /gene_synonym="CABP; CABP1; CABP9K; CALB3" /note="S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains...
AA_position 29
Synonym: CABP; CABP1; CABP9K; CALB3
XM_054327869.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens S100 calcium binding protein G (S100G), transcript variant X1, mRNA. (551 bp)
g" /db_xref="dbSNP:1932593869" CDS 151..390 /gene="S100G" /gene_synonym="CABP; CABP1; CABP9K; CALB3" /codon_start=1 /product="protein S100-G isoform X1" /protein_id="XP_016885330.1" /db_xref="GeneID:795" /db_xref="HGNC:HGNC:1436" /db_xref="MIM:302020" /translation="MSTKKSPEELKRIFEKYAAKEGDPDQLSKDELKLLIQAEFPSLLKGPNTLDDLFQELDKNGDGEVSFEEFQVLVKKISQ" misc_feature 184..387 /gene="S100G" /gene_synonym="CABP; CABP1; CABP9K; CALB3" /note="S-100 domain, which represents the largest family within the superfamily of proteins carrying the Ca-binding EF-hand motif. Note that this S-100 hierarchy contains...
AA_position 29
Synonym: CABP; CABP1; CABP9K; CALB3
XM_017029841.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens S100 calcium binding protein G (S100G), mRNA. (455 bp)
; vitamin D-dependent calcium-binding protein, intestinal; calbindin-D9k" /codon_start=1 /product="protein S100-G" /protein_id="NP_004048.1" /db_xref="CCDS:CCDS14176.1" /db_xref="GeneID:795" /db_xref="HGNC:HGNC:1436" /db_xref="MIM:302020" /translation="MSTKKSPEELKRIFEKYAAKEGDPDQLSKDELKLLIQAEFPSLLKGPNTLDDLFQELDKNGDGEVSFEEFQVLVKKISQ" misc_feature 58..60 /gene="S100G" /gene_synonym="CABP; CABP1; CABP9K; CALB3" /note="N-acetylserine. /evidence=ECO:0000250|UniProtKB:P02633; propagated from UniProtKB/Swiss-Prot (P29377.2); acetylation site" misc_feature 88..291 /gene="S100G" /gene_...
AA_position 29
Synonym: CABP; CABP1; CABP9K; CALB3
NM_004057.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens glia maturation factor beta (GMFB), transcript variant X3, mRNA. (362 bp)
MIM:601713" CDS 54..362 /gene="GMFB" /gene_synonym="GMF" /codon_start=1 /product="glia maturation factor beta isoform X3" /protein_id="XP_054231852.1" /db_xref="GeneID:2764" /db_xref="HGNC:HGNC:4373" /db_xref="MIM:601713" /translation="MSESLVVCDVAEDLVEKLRKFRFRKETNNAAIIMKIDKDKRLVVLDEELEGISPDELKDELPERQPRPSLCIVININMMMEEFHILCALFSPVLLDVSLNNR" misc_feature 78..>254 /gene="GMFB" /gene_synonym="GMF" /note="Actin depolymerization factor/cofilin- and gelsolin-like domains; Region: ADF_gelsolin; cl15697" /db_xref="CDD:472830" ORIGIN //...
AA_position 58
Synonym: GMF
XM_054375877.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens glia maturation factor beta (GMFB), transcript variant X2, mRNA. (4112 bp)
db_xref="HGNC:HGNC:4373" /db_xref="MIM:601713" CDS 179..508 /gene="GMFB" /gene_synonym="GMF" /codon_start=1 /product="glia maturation factor beta isoform X2" /protein_id="XP_054231851.1" /db_xref="GeneID:2764" /db_xref="HGNC:HGNC:4373" /db_xref="MIM:601713" /translation="MKIDKDKRLVVLDEELEGISPDELKDELPERQPRFIVYSYKYQHDDGRVSYPLCFIFSSPVGCKPEQQMMYAGSKNKLVQTAELTKVFEIRNTEDLTEEWLREKLGFFH" misc_feature <179..469 /gene="GMFB" /gene_synonym="GMF" /note="ADF-homology domain of glia maturation factor beta and related proteins; Region: ADF_GMF-beta_like; cd11283" /db_xref="CDD:200439" ORIGIN //...
AA_position 25
Synonym: GMF
XM_054375876.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 4, mRNA. (4133 bp)
xref="CCDS:CCDS77165.1" /db_xref="GeneID:125488" /db_xref="HGNC:HGNC:26595" /translation="MHAPFRISCQVVWLFKIYLLMCQINSALTSFHTALELAVDQREIQHVCLYEIGWCSMIELNFKDAFDSFERLKNESRWSQCYYAYLTAVCQGATGDVDGAQIVFKEVQKLFKRKNNQIEQFSVKKAERFRKQTPTKALCVLASIEVLYLWKALPNCSFPNLQRMSQACHEVDDSSVVGLKYLLLGAIHKCLGNSEDAVQYFQRAVKDELCRQNNLYVQPYACYELGCLLLDKPETVGRGRALLLQAKEDFSGYDFENRLHVRIHAALASLRELVPQ" sig_peptide 277..354 /gene="TTC39C" /gene_synonym="C18orf17; HsT2697" /inference="COORDINATES: ab initio prediction:SignalP:6.0" misc_feature <307..849 /gene="TTC39C" /gene_synonym="C18orf17; HsT2697" /note="Iml2/Tetratricopeptide...
AA_position 206
Synonym: C18orf17; HsT2697
NM_001292030.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), mRNA. (986 bp)
db_xref="MIM:611851" /translation="MAAPVRRTLLGVAGGWRRFERLWAGSLSSRSLALAAAPSSNGSPWRLLGALCLQRPPVVSKPLTPLQEEMASLLQQIEIERSLYSDHELRALDENQRLAKKKADLHDEEDEQDILLAQDLEDMWEQKFLQFKLGARITEADEKNDRTSLNRKLDRNLVLLVREKFGDQDVWILPQAEWQPGETLRGTAERTLATLSENNMEAKFLGNAPCGHYTFKFPQAMRTESNLGAKVFFFKALLLTGDFSQAGNKGHHVWVTKDELGDYLKPKYLAQVRRFVSDL" misc_feature 144..434 /gene="MRPL46" /gene_synonym="C15orf4; LIECG2; mL46; P2ECSL" /note="39S mitochondrial ribosomal protein L46; Region: MRP-L46; pfam11788" /db_xref="CDD:432074" misc_feature 417..836 /gene="MRPL46" /gene_synonym="C15orf4; LIECG2; mL46; P2ECSL" /note="Mitochondrial...
AA_position 257
Synonym: C15orf4; LIECG2; mL46; P2ECSL
NM_022163.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA. (1277 bp)
snRNP-specific protein A; U1 small nuclear RNP-specific A; U1 snRNP A" /codon_start=1 /product="U1 small nuclear ribonucleoprotein A" /protein_id="NP_004587.1" /db_xref="CCDS:CCDS12565.1" /db_xref="GeneID:6626" /db_xref="HGNC:HGNC:11151" /db_xref="MIM:182285" /translation="MAVPETRPNHTIYINNLNEKIKKDELKKSLYAIFSQFGQILDILVSRSLKMRGQAFVIFKEVSSATNALRSMQGFPFYDKPMRIQYAKTDSDIIAKMKGTFVERDRKREKRKPKSQETPATKKAVQGGGATPVVGAVQGPVPGMPPMTQAPRIMHHMPGQPPYMPPPGMIPPPGLAPGQIPPGAMPPQQLMPGQMPPAQPLSENPPNHILFLTNLPEETNELMLSMLFNQFPGFKEVRLVPGRHDIAFVEFDNEVQAGAARDALQGFKITQNNAMKISFAKK" misc_feature 210..212 /gene="SNRPA" /gene_...
AA_position 23
Synonym: Mud1; U1-A; U1A
NM_004596.5 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens protein O-glucosyltransferase 2 (POGLUT2), transcript variant 2, mRNA. (2172 bp)
BC051860.1 and BC001297.1. On May 31, 2019 this sequence version replaced NM_001318732.1. Summary: This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed...
AA_position 280
Synonym: EP58; ERp58; KDEL1; KDELC1
NM_001318732.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens centrosomal protein 41 (CEP41), transcript variant 3, mRNA. (6028 bp)
testis specific, 14; centrosomal protein 41kDa" /codon_start=1 /product="centrosomal protein of 41 kDa isoform 3" /protein_id="NP_001244088.1" /db_xref="CCDS:CCDS59078.1" /db_xref="GeneID:95681" /db_xref="HGNC:HGNC:12370" /db_xref="MIM:610523" /translation="MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTDYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK" misc_feature 510..761 /gene="CEP41" /gene_synonym="...
AA_position 38
Synonym: JBTS15; TSGA14
NM_001257159.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X18, mRNA. (1251 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X18" /protein_id="XP_054195158.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEG" misc_feature 91..>465 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" polyA_site 1251 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /experiment="COORDINATES: polyA evidence [ECO:0006239]" ORIGIN //...
AA_position 114
Synonym: CFAP200; DRC8
XM_054339183.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X18, mRNA. (1231 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X18" /protein_id="XP_047288027.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEG" misc_feature 91..>465 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 92 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:918585141" variation 94 /gene="...
AA_position 114
Synonym: CFAP200; DRC8
XM_047432071.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X17, mRNA. (967 bp)
synonym="CFAP200; DRC8" /codon_start=1 /product="dynein regulatory complex protein 8 isoform X17" /protein_id="XP_054195157.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MGNTGEIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVIDEN" misc_feature 107..475 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" ORIGIN //...
AA_position 82
Synonym: CFAP200; DRC8
XM_054339182.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X17, mRNA. (967 bp)
synonym="CFAP200; DRC8" /codon_start=1 /product="dynein regulatory complex protein 8 isoform X17" /protein_id="XP_047288026.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MGNTGEIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGEPFSQEEMEEMLSAAIDPESNSINYKDYITMMVIDEN" misc_feature 107..475 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 103 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="g" /db_xref="dbSNP:569810295"...
AA_position 82
Synonym: CFAP200; DRC8
XM_047432070.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens trafficking protein particle complex subunit 6B (TRAPPC6B), transcript variant 2, mRNA. (3167 bp)
complex 6B" /codon_start=1 /product="trafficking protein particle complex subunit 6B isoform 2" /protein_id="NP_803235.1" /db_xref="CCDS:CCDS9670.1" /db_xref="GeneID:122553" /db_xref="HGNC:HGNC:23066" /db_xref="MIM:610397" /translation="MADEALFLLLHNEMVSGVYKSAEQGEVENGRCITKLENMGFRVGQGLIERFTKDTARFKDELDIMKFICKDFWTTVFKKQIDNLRTNHQYLAFTCGLIRGGLSNLGIKSIVTAEVSSMPACKFQVMIQKL" misc_feature 245..622 /gene="TRAPPC6B" /gene_synonym="NEDMEBA; TPC6" /note="Trs33 subunit of the TRAPP complex; Region: TRAPPC6A_Trs33; cd14944" /db_xref="CDD:271347" misc_feature order...
AA_position 59
Synonym: NEDMEBA; TPC6
NM_177452.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens ring finger protein 122 (RNF122), transcript variant X1, mRNA. (1773 bp)
MIM:620523" CDS 378..773 /gene="RNF122" /codon_start=1 /product="RING finger protein 122 isoform X1" /protein_id="XP_054217221.1" /db_xref="GeneID:79845" /db_xref="HGNC:HGNC:21147" /db_xref="MIM:620523" /translation="MPPISFQDLPLNIYMVIFGTGIFVFMLSLIFCCYFISKLRNQAQSERYGYKEVVLKGDAKKLQLYGQTCAVCLEDFKGKDELGVLPCQHAFHRKCLVKWLEVRCVCPMCNKPIASPSEATQNIGILLDELV" misc_feature 576..716 /gene="RNF122" /note="RING finger, H2 subclass, found in RING finger protein 122 (RNF122) and similar proteins; Region: RING-H2_RNF122; cd16676" /db_xref="CDD:438338" misc_feature order...
AA_position 79
XM_054361246.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens ring finger protein 122 (RNF122), transcript variant X1, mRNA. (1772 bp)
CDS 378..773 /gene="RNF122" /codon_start=1 /product="RING finger protein 122 isoform X1" /protein_id="XP_016869335.1" /db_xref="GeneID:79845" /db_xref="HGNC:HGNC:21147" /db_xref="MIM:620523" /translation="MPPISFQDLPLNIYMVIFGTGIFVFMLSLIFCCYFISKLRNQAQSERYGYKEVVLKGDAKKLQLYGQTCAVCLEDFKGKDELGVLPCQHAFHRKCLVKWLEVRCVCPMCNKPIASPSEATQNIGILLDELV" misc_feature 576..716 /gene="RNF122" /note="RING finger, H2 subclass, found in RING finger protein 122 (RNF122) and similar proteins; Region: RING-H2_RNF122; cd16676" /db_xref="CDD:438338" misc_feature order...
AA_position 79
XM_017013846.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), mRNA. (1729 bp)
HGNC:14054" /db_xref="MIM:611828" /translation="MAGPLQGGGARALDLLRGLPRVSLANLKPNPGSKKPERRPRGRRRGRKCGRGHKGERQRGTRPRLGFEGGQTPFYIRIPKYGFNEGHSFRRQYKPLSLNRLQYLIDLGRVDPSQPIDLTQLVNGRGVTIQPLKRDYGVQLVEEGADTFTAKVNIEVQLASELAIAAIEKNGGVVTTAFYDPRSLDIVCKPVPFFLRGQPIPKRMLPPEELVPYYTDAKNRGYLADPAKFPEARLELARKYGYILPDITKDELFKMLCTRKDPRQIFFGLAPGWVVNMADKKILKPTDENLLKYYTS" misc_feature 107..241 /gene="MRPL15" /gene_synonym="HSPC145; L15mt; MRP-L15; MRP-L7; RPML7; uL15m" /note="propagated from UniProtKB/Swiss-Prot (Q9P015.1); Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite" misc_feature 200..568 /gene="MRPL15" /...
AA_position 249
Synonym: HSPC145; L15mt; MRP-L15; MRP-L7; RPML7; uL15m
NM_014175.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X16, mRNA. (4371 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X16" /protein_id="XP_054195156.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGIAFRAFPE" misc_feature 91..>465 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" polyA_site 4371 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /experiment="COORDINATES: polyA evidence [ECO:0006239]" ORIGIN //...
AA_position 114
Synonym: CFAP200; DRC8
XM_054339181.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X16, mRNA. (6966 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X16" /protein_id="XP_047288025.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGIAFRAFPE" misc_feature 91..>465 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 92 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:918585141" variation 94 /gene...
AA_position 114
Synonym: CFAP200; DRC8
XM_047432069.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X15, mRNA. (1725 bp)
product="dynein regulatory complex protein 8 isoform X15" /protein_id="XP_054195155.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MEGGRRDHHTMTVLWGTQEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEG" misc_feature 583..>939 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" polyA_site 1725 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /experiment="COORDINATES: polyA evidence [ECO:0006239]" ORIGIN //...
AA_position 124
Synonym: CFAP200; DRC8
XM_054339180.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X15, mRNA. (1705 bp)
product="dynein regulatory complex protein 8 isoform X15" /protein_id="XP_016858032.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MEGGRRDHHTMTVLWGTQEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEG" misc_feature 583..>939 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 536 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="t" /db_xref="dbSNP:762548922" variation 537..538 /gene="EFCAB2" /...
AA_position 124
Synonym: CFAP200; DRC8
XM_017002543.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens centrosomal protein 41 (CEP41), transcript variant 2, mRNA. (6076 bp)
centrosomal protein 41kDa" /codon_start=1 /product="centrosomal protein of 41 kDa isoform 2" /protein_id="NP_001244087.1" /db_xref="CCDS:CCDS59079.1" /db_xref="GeneID:95681" /db_xref="HGNC:HGNC:12370" /db_xref="MIM:610523" /translation="MSLRRHIGNPEYLMKRIPQNPRYQHIKSRLDTGNSMTKYTEKLEEIKKNYRYKKDELFKRLKVTTFAQLIIQVASLSDQTLEVTAEEIQRLEDNDSAASDPDAETTARTNGKGNPGEQSPSPEQFINNAGAGDSSRSTLQSVISGVGELDLDKGPVKKAEPHTKDKPYPDCPFLLLDVRDRDSYQQCHIVGAYSYPIATLSRTMNPYSNDILEYKNAHGKIIILYDDDERLASQAATTMCERGFENLFMLSGGRLNQANSSGRESKVPGARSAQNLPGGGPASHSNPRSLSSGHLQGKPWK" misc_feature 558..809 /gene="CEP41" /gene_synonym="JBTS15;...
AA_position 54
Synonym: JBTS15; TSGA14
NM_001257158.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens solute carrier family 25 member 15 (SLC25A15), mRNA; nuclear gene for mitochondrial product. (3821 bp)
db_xref="GeneID:10166" /db_xref="HGNC:HGNC:10985" /db_xref="MIM:603861" /translation="MKSNPAIQAAIDLTAGAAGGTACVLTGQPFDTMKVKMQTFPDLYRGLTDCCLKTYSQVGFRGFYKGTSPALIANIAENSVLFMCYGFCQQVVRKVAGLDKQAKLSDLQNAAAGSFASAFAALVLCPTELVKCRLQTMYEMETSGKIAKSQNTVWSVIKSILRKDGPLGFYHGLSSTLLREVPGYFFFFGGYELSRSFFASGRSKDELGPVPLMLSGGVGGICLWLAVYPVDCIKSRIQVLSMSGKQAGFIRTFINVVKNEGITALYSGLKPTMIRAFPANGALFLAYEYSRKLMMNQLEAY" misc_feature 135..197 /gene="SLC25A15" /gene_synonym="D13S327; HHH; LNC-HC; ORC1; ORNT1" /note="propagated from UniProtKB/Swiss-Prot (Q9Y619.1); transmembrane region" misc_feature 141..395 /gene="SLC25A15" /gene...
AA_position 204
Synonym: D13S327; HHH; LNC-HC; ORC1; ORNT1
NM_014252.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X14, mRNA. (988 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X14" /protein_id="XP_054195154.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEDPEFQQNSRHQPV" misc_feature 91..>456 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" polyA_site 988 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /experiment="COORDINATES: polyA evidence [ECO:0006239]" ORIGIN //...
AA_position 114
Synonym: CFAP200; DRC8
XM_054339179.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X14, mRNA. (988 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X14" /protein_id="XP_047288024.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEDPEFQQNSRHQPV" misc_feature 91..>456 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 92 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:918585141" variation 94 /...
AA_position 114
Synonym: CFAP200; DRC8
XM_047432068.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens methyltransferase 14, N6-adenosine-methyltransferase non-catalytic subunit (METTL14), mRNA. (6642 bp)
start=1 /product="N6-adenosine-methyltransferase non-catalytic subunit" /protein_id="NP_066012.1" /db_xref="CCDS:CCDS34053.1" /db_xref="GeneID:57721" /db_xref="HGNC:HGNC:29330" /db_xref="MIM:616504" /translation="MDSRLQEIRERQKLRRQLLAQQLGAESADSIGAVLNSKDEQREIAETRETCRASYDTSAPNAKRKYLDEGETDEDKMEEYKDELEMQQDEENLPYEEEIYKDSSTFLKGTQSLNPHNDYCQHFVDTGHRPQNFIRDVGLADRFEEYPKLRELIRLKDELIAKSNTPPMYLQADIEAFDIRELTPKFDVILLEPPLEEYYRETGITANEKCWTWDDIMKLEIDEIAAPRSFIFLWCGSGEGLDLGRVCLRKWGYRRCEDICWIKTNKNNPGKTKTLDPKAVFQRTKEHCLMGIKGTVKRSTDGDFIHANVDIDLIITEEPEIGNIEKPVEIFHIIEHFCLGRRRLHLFGRDSTIRPGWLTVGPTLTNSNYNAETYASYFSAPNSYLTG...
AA_position 81
Synonym: hMETTL14
NM_020961.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens glia maturation factor beta (GMFB), mRNA. (4085 bp)
GMFB" /gene_synonym="GMF" /note="GMF-beta" /codon_start=1 /product="glia maturation factor beta" /protein_id="NP_004115.1" /db_xref="CCDS:CCDS9718.1" /db_xref="GeneID:2764" /db_xref="HGNC:HGNC:4373" /db_xref="MIM:601713" /translation="MSESLVVCDVAEDLVEKLRKFRFRKETNNAAIIMKIDKDKRLVVLDEELEGISPDELKDELPERQPRFIVYSYKYQHDDGRVSYPLCFIFSSPVGCKPEQQMMYAGSKNKLVQTAELTKVFEIRNTEDLTEEWLREKLGFFH" misc_feature 57..59 /gene="GMFB" /gene_synonym="GMF" /note="N-acetylserine. /evidence=ECO:0007744|PubMed:19413330, ECO:0007744|PubMed:22223895, ECO:0007744|PubMed:22814378; propagated from UniProtKB/Swiss-Prot...
AA_position 58
Synonym: GMF
NM_004124.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens glia maturation factor beta (GMFB), transcript variant X1, mRNA. (4089 bp)
MIM:601713" CDS 54..485 /gene="GMFB" /gene_synonym="GMF" /codon_start=1 /product="glia maturation factor beta isoform X1" /protein_id="XP_054231850.1" /db_xref="GeneID:2764" /db_xref="HGNC:HGNC:4373" /db_xref="MIM:601713" /translation="MSESLVVCDVAEDLVEKLRKFRFRKETNNAAIIMKIDKDKRLVVLDEELEGISPDELKDELPERQPRTFIVYSYKYQHDDGRVSYPLCFIFSSPVGCKPEQQMMYAGSKNKLVQTAELTKVFEIRNTEDLTEEWLREKLGFFH" misc_feature 78..446 /gene="GMFB" /gene_synonym="GMF" /note="ADF-homology domain of glia maturation factor beta and related proteins; Region: ADF_GMF-beta_like; cd11283" /db_xref="CDD:200439" ORIGIN //...
AA_position 58
Synonym: GMF
XM_054375875.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X13, mRNA. (4845 bp)
product="dynein regulatory complex protein 8 isoform X13" /protein_id="XP_054195153.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MEGGRRDHHTMTVLWGTQEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGIAFRAFPE" misc_feature 583..>939 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" polyA_site 4845 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /experiment="COORDINATES: polyA evidence [ECO:0006239]" ORIGIN //...
AA_position 124
Synonym: CFAP200; DRC8
XM_054339178.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X13, mRNA. (7440 bp)
product="dynein regulatory complex protein 8 isoform X13" /protein_id="XP_016858031.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MEGGRRDHHTMTVLWGTQEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEGIAFRAFPE" misc_feature 583..>939 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 536 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="t" /db_xref="dbSNP:762548922" variation 537..538 /gene="...
AA_position 124
Synonym: CFAP200; DRC8
XM_017002542.3 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 3, mRNA. (2178 bp)
isoform c" /protein_id="NP_001018865.2" /db_xref="CCDS:CCDS33836.1" /db_xref="GeneID:9657" /db_xref="HGNC:HGNC:28949" /db_xref="MIM:609237" /translation="MKPTGTDPRILSIAAEVAKSPEQNVPVILLKLKEIINITPLGSSELKKIKQDIYCYDLIQYCLLVLSQDYSRIQGGWTTISQLTQILSHCCVGLEPGEDAEEFYNELLPSAAENFLVLGRQLQTCFINAAKAEEKDELLHFFQIVTDSLFWLLGGHVELIQNVLQSDHFLHLLQADNVQIGSAVMMMLQNILQINRSKRSKMLLEINRQKEEEDLKLQLQLQRQRAMRLSRELQLSMLEIVHPGQVEKHYREMEEKSALIIQKHWRGYRERKNFHQQRQSLIEYKAAVTLQRAALKFLAKCRKKKKLFAPWRGLQELTDARRVELKKRVDDYVRRHLGSPMSDVVSRELHAQAQERLQHYFMGRALEERAQQHREALIAQISTNVEQLMKAPSLKEAEGKEPELFLSRSRPVAAKAKQAHLTTLKHIQAPWWKKLGEESGDEIDVP...
AA_position 135
Synonym: NPHP5; PIQ; SLSN5
NM_001023571.4 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens dystrobrevin beta (DTNB), transcript variant 29, mRNA. (3764 bp)
protein_id="NP_001338324.1" /db_xref="GeneID:1838" /db_xref="HGNC:HGNC:3058" /db_xref="MIM:602415" /translation="MTPQLFFPPLNVDRPVWPESLTEARSPARLASHRALLCPDRNARGDRAATLQNKRLQYSQDIPSHLADEHALIASYVARLQHCARVLDSPSRLDEEHRLIARYAARLAAEAGNVTRPPTDLSFNFDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEELMKLLKAQATGSPHTSPTHGGGRPMPMPVRSTSAGSTPTHCPQDSLSGVGGDVQEAFAQGTRRNLRNDLLVAADSITNTMSSLVKELHSAEEGAEEEEEKMQNGKDRG" misc_feature 3187 /gene="DTNB" /note="Septal ring factor EnvC, activator of murein hydrolases AmiA and AmiB [Cell cycle control, cell division, chromosome partitioning];...
AA_position 184
NM_001351395.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X11, mRNA. (999 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X11" /protein_id="XP_054195151.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEDVFQILNSSKTADTNQFEDPHRGM" misc_feature 91..>456 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" polyA_site 999 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /experiment="COORDINATES: polyA evidence [ECO:0006239]" ORIGIN //...
AA_position 114
Synonym: CFAP200; DRC8
XM_054339176.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
PREDICTED: Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant X11, mRNA. (999 bp)
start=1 /product="dynein regulatory complex protein 8 isoform X11" /protein_id="XP_047288023.1" /db_xref="GeneID:84288" /db_xref="HGNC:HGNC:28166" /db_xref="MIM:619617" /translation="MADEKDREEIIVAEFHKKIKEAFEVFDHESNNTVDVREIGTIIRSLGCCPTEGELHDLIAEVEEEEPTGYIRFEKFLPVMTEILLERKYRPIPEDVLLRAFEVLDSAKRGFLTKDELIKYMTEEDVFQILNSSKTADTNQFEDPHRGM" misc_feature 91..>456 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /note="calmodulin; Provisional; Region: PTZ00184" /db_xref="CDD:185504" variation 92 /gene="EFCAB2" /gene_synonym="CFAP200; DRC8" /replace="c" /replace="g" /replace="t" /db_xref="dbSNP:918585141"...
AA_position 114
Synonym: CFAP200; DRC8
XM_047432067.1 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens microfibril associated protein 5 (MFAP5), transcript variant 4, mRNA. (2797 bp)
associated protein 5 isoform d precursor" /protein_id="NP_001284640.1" /db_xref="CCDS:CCDS76523.1" /db_xref="GeneID:8076" /db_xref="HGNC:HGNC:29673" /db_xref="MIM:601103" /translation="MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTEDPNLVNDPATDETECWDEKFTCTRLYSVHRPVKQCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLPPCENVDLQRPNGL" sig_peptide 203..286 /gene="MFAP5" /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25" /inference="COORDINATES: ab initio prediction:SignalP:6.0" misc_feature 209..556 /gene="MFAP5" /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25" /note="Microfibril-associated...
AA_position 111
Synonym: AAT9; MAGP-2; MAGP2; MFAP-5; MP25
NM_001297711.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens microfibril associated protein 5 (MFAP5), transcript variant 3, mRNA. (2806 bp)
protein 5 isoform c precursor" /protein_id="NP_001284639.1" /db_xref="CCDS:CCDS76522.1" /db_xref="GeneID:8076" /db_xref="HGNC:HGNC:29673" /db_xref="MIM:601103" /translation="MSLLGPKVLLFLAAFIITSDDVTQATPETFTEDPNLVNDPATDETVLAVLADIAPSTDDLECWDEKFTCTRLYSVHRPVKQCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRRLRRSNYFRLPPCENVDLQRPNGL" sig_peptide 203..277 /gene="MFAP5" /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25" /inference="COORDINATES: ab initio prediction:SignalP:6.0" misc_feature 209..565 /gene="MFAP5" /gene_synonym="AAT9; MAGP-2; MAGP2; MFAP-5; MP25" /note="Microfibril-associated glycoprotein...
AA_position 114
Synonym: AAT9; MAGP-2; MAGP2; MFAP-5; MP25
NM_001297710.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)
Homo sapiens dystrobrevin alpha (DTNA), transcript variant 17, mRNA. (3943 bp)
translation="MIEDSGKRGNTMAERRQLFAEMRAQDLDRIRLSTYRTACKLRFVQKKCNLHLVDIWNVIEALRENALNNLDPNTELNVSRLEAVLSTIFYQLNKRMPTTHQIHVEQSISLLLNFLLAAFDPEGHGKISVFAVKMALATLCGGKIMDKLRYIFSMISDSSGVMVYGRYDQFLREVLKLPTAVFEGPSFGYTEQSARSCFSQQQPPQQRSAPDISFTIDANKQQRQLIAELENKNREILQEIQRLRLEHEQASQPTPEKAQQNPTLLAELRLLRQRKDELEQRMSALQESRRELMVQLEGLMKLLKEEELKQGVSYVPYCRS" misc_feature 489..935 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A; LVNC1" /note="EF-hand-like motif found in alpha-dystrobrevin; Region: EFh_DTNA; cd16249" /db_xref="CDD:320007" misc_feature 489..614 /gene="DTNA" /gene_synonym="D18S892E; DRP3; DTN; DTN-A...
AA_position 275
Synonym: D18S892E; DRP3; DTN; DTN-A; LVNC1
NM_001198945.2 - Homo sapiens (human) - NCBI - UCSC - RefEx(expression)

Data Export:

Maximum 10000 results can be retrieved as Tab-delimited text or JSON format.

Debug Info:

Redirect URI : http://ggrna.dbcls.jp/hs/aa%3aKDEL
lang : en | div : | spe : hs | query_string : aa:KDEL | format : html | download : 

0.000 | 0.000 | search_start;
0.369 | 0.369 | count_done; http://172.18.8.71:7700/v1/refsub/query?q=(aa:KDEL)?source=Homo sapiens (human)?to=0&format=json
0.723 | 0.353 | search_done; http://172.18.8.71:7700/v1/refsub/query?q=(aa:KDEL)?source=Homo sapiens (human)?to=49?from=0?snippet=full_search?drilldown=source?get=accession,version,gi,length,symbol,synonym,geneid,division,source,definition&format=json
0.728 | 0.006 | cgi_end;

GGRNA ver.2 by @meso_cacase at DBCLS
This page is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596. [Full Text]