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2024-04-25 09:51:32, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001167608 5169 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript
variant 2, mRNA.
ACCESSION NM_001167608
VERSION NM_001167608.1 GI:263190665
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 5169)
AUTHORS Wan,C., Fu,J., Wang,Y., Miao,S., Song,W. and Wang,L.
TITLE Exosome-related multi-pass transmembrane protein TSAP6 is a target
of rhomboid protease RHBDD1-induced proteolysis
JOURNAL PLoS ONE 7 (5), E37452 (2012)
PUBMED 22624035
REMARK GeneRIF: RHBDD1 is involved in the regulation of a nonclassical
exosomal secretion pathway through the restriction of TSAP6.
REFERENCE 2 (bases 1 to 5169)
AUTHORS Wang,Y., Guan,X., Fok,K.L., Li,S., Zhang,X., Miao,S., Zong,S.,
Koide,S.S., Chan,H.C. and Wang,L.
TITLE A novel member of the Rhomboid family, RHBDD1, regulates
BIK-mediated apoptosis
JOURNAL Cell. Mol. Life Sci. 65 (23), 3822-3829 (2008)
PUBMED 18953687
REMARK GeneRIF: RHBDD1, a serine protease, modulates BIK-mediated
apoptotic activity.
REFERENCE 3 (bases 1 to 5169)
AUTHORS Wilk,J.B., Walter,R.E., Laramie,J.M., Gottlieb,D.J. and
O'Connor,G.T.
TITLE Framingham Heart Study genome-wide association: results for
pulmonary function measures
JOURNAL BMC Med. Genet. 8 (SUPPL 1), S8 (2007)
PUBMED 17903307
REMARK Publication Status: Online-Only
REFERENCE 4 (bases 1 to 5169)
AUTHORS Girard,A., Sachidanandam,R., Hannon,G.J. and Carmell,M.A.
TITLE A germline-specific class of small RNAs binds mammalian Piwi
proteins
JOURNAL Nature 442 (7099), 199-202 (2006)
PUBMED 16751776
REFERENCE 5 (bases 1 to 5169)
AUTHORS Hillier,L.W., Graves,T.A., Fulton,R.S., Fulton,L.A., Pepin,K.H.,
Minx,P., Wagner-McPherson,C., Layman,D., Wylie,K., Sekhon,M.,
Becker,M.C., Fewell,G.A., Delehaunty,K.D., Miner,T.L., Nash,W.E.,
Kremitzki,C., Oddy,L., Du,H., Sun,H., Bradshaw-Cordum,H., Ali,J.,
Carter,J., Cordes,M., Harris,A., Isak,A., van Brunt,A., Nguyen,C.,
Du,F., Courtney,L., Kalicki,J., Ozersky,P., Abbott,S.,
Armstrong,J., Belter,E.A., Caruso,L., Cedroni,M., Cotton,M.,
Davidson,T., Desai,A., Elliott,G., Erb,T., Fronick,C., Gaige,T.,
Haakenson,W., Haglund,K., Holmes,A., Harkins,R., Kim,K.,
Kruchowski,S.S., Strong,C.M., Grewal,N., Goyea,E., Hou,S., Levy,A.,
Martinka,S., Mead,K., McLellan,M.D., Meyer,R., Randall-Maher,J.,
Tomlinson,C., Dauphin-Kohlberg,S., Kozlowicz-Reilly,A., Shah,N.,
Swearengen-Shahid,S., Snider,J., Strong,J.T., Thompson,J.,
Yoakum,M., Leonard,S., Pearman,C., Trani,L., Radionenko,M.,
Waligorski,J.E., Wang,C., Rock,S.M., Tin-Wollam,A.M., Maupin,R.,
Latreille,P., Wendl,M.C., Yang,S.P., Pohl,C., Wallis,J.W.,
Spieth,J., Bieri,T.A., Berkowicz,N., Nelson,J.O., Osborne,J.,
Ding,L., Meyer,R., Sabo,A., Shotland,Y., Sinha,P., Wohldmann,P.E.,
Cook,L.L., Hickenbotham,M.T., Eldred,J., Williams,D., Jones,T.A.,
She,X., Ciccarelli,F.D., Izaurralde,E., Taylor,J., Schmutz,J.,
Myers,R.M., Cox,D.R., Huang,X., McPherson,J.D., Mardis,E.R.,
Clifton,S.W., Warren,W.C., Chinwalla,A.T., Eddy,S.R., Marra,M.A.,
Ovcharenko,I., Furey,T.S., Miller,W., Eichler,E.E., Bork,P.,
Suyama,M., Torrents,D., Waterston,R.H. and Wilson,R.K.
TITLE Generation and annotation of the DNA sequences of human chromosomes
2 and 4
JOURNAL Nature 434 (7034), 724-731 (2005)
PUBMED 15815621
REFERENCE 6 (bases 1 to 5169)
AUTHORS Puente,X.S., Sanchez,L.M., Overall,C.M. and Lopez-Otin,C.
TITLE Human and mouse proteases: a comparative genomic approach
JOURNAL Nat. Rev. Genet. 4 (7), 544-558 (2003)
PUBMED 12838346
REMARK Review article
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC010735.11, DB024396.1, AC073149.5 and CA434330.1.
Transcript Variant: This variant (2) differs in the 5' UTR compared
to variant 1. Variants 1 and 2 encode the same protein.
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
##Evidence-Data-START##
CDS exon combination :: AK074258.1, AL832364.1 [ECO:0000331]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-133 AC010735.11 115536-115668
134-434 DB024396.1 34-334
435-957 AC010735.11 144185-144707
958-1090 AC010735.11 146767-146899
1091-1179 AC010735.11 186374-186462
1180-1236 AC010735.11 188403-188459
1237-1380 AC010735.11 193789-193932
1381-4555 AC073149.5 65032-68206
4556-5169 CA434330.1 1-614 c
FEATURES Location/Qualifiers
source 1..5169
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="2"
/map="2q36.3"
gene 1..5169
/gene="RHBDD1"
/gene_synonym="RRP4"
/note="rhomboid domain containing 1"
/db_xref="GeneID:84236"
/db_xref="HGNC:23081"
exon 1..133
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 86..88
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2396429"
exon 134..215
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 138
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:139323949"
variation 158
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:192060374"
variation 181
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:75216540"
exon 216..434
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 223
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:185902523"
variation 237
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:957630"
variation 360
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:191066783"
variation 370..371
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="tg"
/db_xref="dbSNP:71944418"
exon 435..957
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 443
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:191381349"
variation 475
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:376038303"
variation 486
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140092397"
variation 487
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:369158592"
variation 494
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372778601"
variation 511
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:377205809"
misc_feature 513..515
/gene="RHBDD1"
/gene_synonym="RRP4"
/note="upstream in-frame stop codon"
variation 518
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370707612"
CDS 525..1472
/gene="RHBDD1"
/gene_synonym="RRP4"
/EC_number="3.4.21.105"
/note="rhomboid domain-containing protein 1; rhomboid-like
protein 4"
/codon_start=1
/product="rhomboid-related protein 4"
/protein_id="NP_001161080.1"
/db_xref="GI:263190666"
/db_xref="CCDS:CCDS2464.1"
/db_xref="GeneID:84236"
/db_xref="HGNC:23081"
/translation="
MQRRSRGINTGLILLLSQIFHVGINNIPPVTLATLALNIWFFLNPQKPLYSSCLSVEKCYQQKDWQRLLLSPLHHADDWHLYFNMASMLWKGINLERRLGSRWFAYVITAFSVLTGVVYLLLQFAVAEFMDEPDFKRSCAVGFSGVLFALKVLNNHYCPGGFVNILGFPVPNRFACWVELVAIHLFSPGTSFAGHLAGILVGLMYTQGPLKKIMEACAGGFSSSVGYPGRQYYFNSSGSSGYQDYYPHGRPDHYEEAPRNYDTYTAGLSEEEQLERALQASLWDRGNTRNSPPPYGFHLSPEEMRRQRLHRFDSQ
"
misc_feature 588..650
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 705..1142
/gene="RHBDD1"
/gene_synonym="RRP4"
/note="Rhomboid family; Region: Rhomboid; pfam01694"
/db_xref="CDD:201925"
misc_feature 843..905
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 960..1022
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 1065..1127
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
transmembrane region"
misc_feature 1329..1376
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
Region: Ubiquitin-binding domain (UBD) (By similarity)"
misc_feature 1425..1469
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="non-experimental evidence, no additional
details recorded"
/note="propagated from UniProtKB/Swiss-Prot (Q8TEB9.1);
Region: VCP/p97-interacting motif (VIM) (By similarity)"
variation 530
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374371418"
variation 531
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200984958"
variation 532
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143167571"
variation 562
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140251328"
variation 569
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200858101"
variation 593
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:138151618"
variation 597
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:147490611"
variation 601
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:36070966"
variation 610
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:143797293"
variation 618
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:146860429"
variation 624
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:201451974"
variation 652
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200723244"
variation 689
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:199524639"
variation 722
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:375555198"
variation 819
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200430586"
variation 828
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:35800367"
variation 841
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139722262"
variation 852
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:35731955"
variation 865
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:139799015"
variation 876
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:367554033"
variation 881
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:145596814"
variation 899
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:201657953"
variation 906
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:35327472"
exon 958..1090
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 966
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:201934991"
variation 991
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200684700"
variation 1001
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:373928835"
variation 1008
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:200143484"
variation 1012
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147052938"
variation 1016
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:141814514"
variation 1017
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:149429362"
variation 1018
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:139662037"
variation 1030
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368079801"
variation 1036
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:370274083"
variation 1072
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:138593136"
variation 1079
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:79817199"
exon 1091..1179
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 1091
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:139871503"
variation 1100
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:192369215"
variation 1145
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139054774"
variation 1171
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:144396791"
exon 1180..1236
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 1181
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:145957679"
variation 1207
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:181841165"
variation 1212
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:370833761"
variation 1230
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373110656"
variation 1231
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:147682470"
exon 1237..1380
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 1239
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:371210234"
variation 1241
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:3731591"
variation 1264
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143313030"
variation 1265
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373351039"
variation 1279
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376620256"
variation 1303
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:199684126"
variation 1312
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:34134244"
variation 1332
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:200943797"
variation 1346
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:138482669"
variation 1347
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:145152327"
variation 1359
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:80271565"
variation 1377
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147605304"
variation 1379
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:34531133"
exon 1381..5160
/gene="RHBDD1"
/gene_synonym="RRP4"
/inference="alignment:Splign:1.39.8"
variation 1404
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:372485152"
variation 1409
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:202117444"
variation 1421
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:79028313"
variation 1461
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:375861610"
variation 1466
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:61745917"
variation 1492
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:75823514"
variation 1503
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374562891"
variation 1538
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:62189812"
variation 1676
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:188118173"
variation 1709
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:368890892"
variation 1750
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:76218537"
variation 1768
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:139391430"
variation 1811
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:143376654"
variation 1904
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:191871396"
variation 1905
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:10933164"
variation 1952
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:11546330"
variation 1965
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:118113269"
variation 1969
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:73994326"
variation 1980
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:78221368"
variation 1982
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:112301740"
variation 1997
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:183998589"
variation 2003
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:113017295"
variation 2038
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:371111949"
variation 2089
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:188393451"
variation 2105
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:181594968"
variation 2131
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:147140400"
variation 2162
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:376105138"
STS 2214..2453
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="STS-AA026333"
/db_xref="UniSTS:7359"
variation 2214
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:186863618"
variation 2230
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:112591975"
variation 2257
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:373045766"
variation 2357
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:370392235"
variation 2542
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:140368905"
variation 2564
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="tata"
/db_xref="dbSNP:112998508"
variation 2591
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:190508675"
variation 2637
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:58972768"
variation 2640
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:182345283"
variation 2814
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:376153985"
variation 2913
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:149696275"
variation 2985
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:80209084"
variation 3031
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:186129427"
variation 3085
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="g"
/replace="t"
/db_xref="dbSNP:189850345"
variation 3283
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:182115161"
STS 3374..3508
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="RH93567"
/db_xref="UniSTS:88419"
variation 3386
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:62189813"
variation 3452
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:374439075"
variation 3483
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:144514303"
variation 3525
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:6730861"
variation 3591
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:115641100"
variation 3609
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:185756834"
variation 3671
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:148450110"
variation 3693
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:142642955"
variation 3829
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:114007993"
variation 3899
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:190128519"
variation 4167..4168
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="tga"
/db_xref="dbSNP:150492139"
variation 4269
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:151008266"
variation 4391
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:141124889"
variation 4450
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111462114"
variation 4459
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:368809695"
variation 4469
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:111659793"
variation 4472
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:143539019"
variation 4593
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:113962410"
variation 4619..4628
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="caatacttaa"
/db_xref="dbSNP:146932158"
variation 4641
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="c"
/db_xref="dbSNP:183552826"
variation 4660
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:188596520"
STS 4840..5019
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="RH103372"
/db_xref="UniSTS:97699"
variation 4907
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:115132927"
variation 4914
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:146794085"
STS 4918..5102
/gene="RHBDD1"
/gene_synonym="RRP4"
/standard_name="RH93902"
/db_xref="UniSTS:84139"
variation 5006
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="g"
/db_xref="dbSNP:140581176"
variation 5020
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="g"
/db_xref="dbSNP:374555041"
variation 5033
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="a"
/replace="t"
/db_xref="dbSNP:11546331"
variation 5035..5036
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace=""
/replace="tgtc"
/db_xref="dbSNP:376520014"
variation 5063
/gene="RHBDD1"
/gene_synonym="RRP4"
/replace="c"
/replace="t"
/db_xref="dbSNP:150423076"
ORIGIN
ggccgagccgtccgctttaaggccctcccctcccgcacccggccccaggaacccggggcgccccggatcgggaacgtgcgtgatgacgcacgtgcgcgcgaagacgtggggacgcaggcgggtcgtagagagcgggtccattgtagggggagaaagaaatattcaggatttaaagcagctgctctaaaggctacattcactgcaatgttgagaagggagcctcttaaacagaatcttacctgtaaaactcaggagccgagaagctttaagaacagtgaggttgaagggcacaggctcttggtccttggcagcgatattaggaggcgtgcctagggaacctcggattccggggagctggacgtgaaactctgtggtggaatagaaatcctcagggcatgagctatacctaaaacgtaatggtattaagaattctggttcagccgtctgtatatctccccagatacctgaaactgaccacctgagtacgttttcccattgctgagctgtttccctgatatctggccatgcaacggagatcaagagggataaatactggacttattctactcctttctcaaatcttccatgttgggatcaacaatattccacctgtcaccctagcaactttggccctcaacatctggttcttcttgaaccctcagaagccactgtatagctcctgccttagtgtggagaagtgttaccagcaaaaagactggcagcgtttactgctctctccccttcaccatgctgatgattggcatttgtatttcaatatggcatccatgctctggaaaggaataaatctagaaagaagactgggaagtagatggtttgcctatgttatcaccgcattttctgtacttactggagtggtatacctgctcttgcaatttgctgttgccgaatttatggatgaacctgacttcaaaaggagctgtgctgtaggtttctcaggagttttgtttgctttgaaagttcttaacaaccattattgccctggaggctttgtcaacattttgggctttcctgtaccgaacagatttgcttgttgggtcgaacttgtggctattcatttattctcaccagggacttccttcgctgggcatctggctgggattcttgttggactaatgtacactcaagggcctctgaagaaaatcatggaagcatgtgcaggcggtttttcctccagtgttggttacccaggacggcaatactactttaatagttcaggcagctctggatatcaggattattatccgcatggcaggccagatcactatgaagaagcacccaggaactatgacacgtacacagcaggactgagtgaagaagaacagctcgagagagcattacaagccagcctctgggaccgaggaaataccagaaatagcccaccaccctacgggtttcatctctcaccagaagaaatgaggagacagcggcttcacagattcgatagccagtgaggtggcatcttgggaagacatggcctattcgtgtaattattgcccatttggctcattccccaagcccctaattcattttaattcattttaaacaaaagcagagtacaccggtattgctccagatcgctcacatcacctgggacagtcccatggcccctatgagtcaactcacagcttgcggggagtgggccttctcctggccttgttcttgctcataaacaggtcacttcctccatgaagagaccagtttccacgctcccatctctcactgctgactcagcgatgcctctgcctcggtctgcttttgaagactgtgaccttcaccaggaggttttacttacaccagtcgggaagattagtccctcattctgcctggagtgccccgtgtttgacttggcagcgggtgtggagccatccccgcgtcctcctggcgcattgccactgtggctgtccaggaacaggatgtggctgccttggccgaatgttgtcctactctccccaaccccggcgcctcagctcctcagctcctcgggcccctgcgtctggctggtgtttgcagggctttcgctctgctctggtattgctctgcctttatagaaagtcttattgaagaagtgtaagaaagacctaaggtggggaagactcctacacacaccattagtatcagtgacaccagcaatgtaggttcccagccccttcccagtggcagcttgtgtgtccaggagataggacatcatttaacgcatcagcaaagtagcagcagatgccacatacagagtagagcgaaggcatttggtggatcggtcactagagatctatcttgcagaaagtatgtttttcctcataaaagtgcctcttaattggccattgtaccagccacttgtcctagccaaatgtccaaaacacgcccttgggccccgccacgttacaatccacagattgtctgtctgagtcgtttaaggcatttcctggtgcttgtgttccatgaataaaaggacaaagtcagaagatcactgatgtcttactgtcaacagagatattttaaaagagagaagcaggaaaagatcttccttttttgatctacaacttatatagttttctgattatgcacataatagatatgccttccagatgcataaggcaaacatctggaaagaaatatacccaaatcttagcaggggttatctttgggagtggagtacatgggattttgctttcttcatttttataattttatattactgtcttggaagatgtgtttatgtgtgtgtgttacttttacaatcaggaaaacatatttaataacatatagtcaagaaaacagacttaaaaataaatactatgtgtccattgagaaaattcacaatataaacagaaatacaaataaatacatacacaattttaaagtcacctgtagccctacccttagaggtacccagggttaacattttggtggtattgtcttatcaatttttccgttgatacattcagcaaatttggagcacattgaccatggagttttgtgtccaaatccaatctgaatttacctggaagaggccttgacacctgcatggaaatgagctaagaaaaccactggagccttgggagctctttggcctcctggctggcccagtaatatctgagctcctttggttaatttataactgatataaaactacatcttctttataatataaattgtacctgtgagtctagaagctttaaatgtgtttaaattaaaatattcaagctaaatgttactgctctctcccaaattctgtaagtttgactcccgttaccccaattagaagtaacttctttgtttcatgccacttttatagcatttggtaattctgctataacacatcttgcccctattattaactgtgcacagctacacaaaggtgtgccttctacgtgggaacatggattgtgaatgactctgtaatgaggcctgagtcttagttatctttccactcactccccgtctcccctttccaaccccaaaggctcacgataggggctcactaaatgtcagtgtttcaccaaagtattttttccattgtattaagagtccagtcactgtatatggaagtattttattttttatttttttatatcacttgagtccactagtagtacttccttgctctgtttgacttgtcagatacaaagacacgggattagattttgggtggtaaaattgtgatacgcatggctgttgatggagtggaacatcttagtgatgtgagaaaggtcattttagttataaatgtaaaccaattactttagcacaacaataaagatgttctggaaattattataattattttagttaatggacttgcctgtaacaagtgcttatgtttggaatgtccattttattttattttcctctacaataaggaatccctaaagttatgccaacaaactggaattggattgagaaagacaaaagcaagtgagcaagtgtattagactaattatctctagtagggaataagcacttagagctaattttttaatttggtttatttattagtagctccctgattgtctgttaagcccctggttcccacagtttggtgtggtcagtcaacttaagcgaccttttaatgcagaatctttacttggttctgaagaggaggcagtagttaaaattgcttcctcttaatgactctgaatgtattgcctgtgattccaaagttgtacataattgttcagacctcctccatccttttaaattgcctgctgcagtaaataactagtttgagtagaactagatcctgtctatctatttggcacatgttctgctgcctggggagtaagcaagctaaagggatgagaaagaccacctccccctaccctggaaattgcactgcaaggcagggcgagaatggggtagctggcagacctggcctccttgttcccagtcttagtttttcttgagagattcagtattcagtaaagaatagcattcaattagtcaaaaaatatatatataacttcttcctttcccttcccatgaatcattgcagtcattccctaagtttcttctctttttttttcatggctgctagtattttattttagaatcacagactctcagcttagagagtcacagtatctcaattatttgctctgttcaatacttaacaatacctcctcactcaattctacataactccagcttagtcttccaaaattcactttcatgatgccactcagcatctcaaatacctttcattggctctctgctgccaaaggataaaggtcaaagtcattagcctcaacagtgggcttcaaccagcctttggacctcagccccatttatccatcacagaggctggtaactagtctcactgctcaggctgtgagtgttcctgatcttgtgacattctgtgctgtgcttttacatggaacagctctttcctctctcttggcccattcagatcctcctcatccagcccccatctgaatcctgtaacagacacaaccacatctacacagtttccacataccacttggaattgctggttatgctgcaatgagagaatgtctttgtctttaaattgtaagcttcatgagggcagggaccatctgtttctctgtctctcctcacagtgccttgagcagtacgttgtctggaatgtcagaaccaataaatacttgtggattgaaacaaaaaaaaaaaaaa
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:84236 -> Molecular function: GO:0004175 [endopeptidase activity] evidence: IDA
GeneID:84236 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IDA
GeneID:84236 -> Molecular function: GO:0004252 [serine-type endopeptidase activity] evidence: IEA
GeneID:84236 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:84236 -> Biological process: GO:0006915 [apoptotic process] evidence: IEA
GeneID:84236 -> Biological process: GO:0010954 [positive regulation of protein processing] evidence: ISS
GeneID:84236 -> Biological process: GO:0030433 [ER-associated protein catabolic process] evidence: ISS
GeneID:84236 -> Biological process: GO:0031293 [membrane protein intracellular domain proteolysis] evidence: ISS
GeneID:84236 -> Biological process: GO:0033619 [membrane protein proteolysis] evidence: IDA
GeneID:84236 -> Biological process: GO:0034620 [cellular response to unfolded protein] evidence: ISS
GeneID:84236 -> Biological process: GO:0034644 [cellular response to UV] evidence: ISS
GeneID:84236 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IDA
GeneID:84236 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: IMP
GeneID:84236 -> Biological process: GO:0043066 [negative regulation of apoptotic process] evidence: ISS
GeneID:84236 -> Biological process: GO:0043687 [post-translational protein modification] evidence: ISS
GeneID:84236 -> Biological process: GO:0045732 [positive regulation of protein catabolic process] evidence: IDA
GeneID:84236 -> Biological process: GO:0045732 [positive regulation of protein catabolic process] evidence: IMP
GeneID:84236 -> Biological process: GO:0048515 [spermatid differentiation] evidence: ISS
GeneID:84236 -> Biological process: GO:0051047 [positive regulation of secretion] evidence: IMP
GeneID:84236 -> Biological process: GO:2000254 [regulation of male germ cell proliferation] evidence: ISS
GeneID:84236 -> Cellular component: GO:0005739 [mitochondrion] evidence: IEA
GeneID:84236 -> Cellular component: GO:0005789 [endoplasmic reticulum membrane] evidence: ISS
GeneID:84236 -> Cellular component: GO:0030176 [integral to endoplasmic reticulum membrane] evidence: ISS
GeneID:84236 -> Cellular component: GO:0044322 [endoplasmic reticulum quality control compartment] evidence: ISS
ANNOTATIONS from NCBI Entrez Gene (20130726):
NP_001161080 -> EC 3.4.21.105
by
@meso_cacase at
DBCLS
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