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Previous release (v1)
2024-05-06 05:59:00, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001411124 4155 bp mRNA linear PRI 28-MAY-2023
DEFINITION Homo sapiens FERM domain containing 5 (FRMD5), transcript variant
9, mRNA.
ACCESSION NM_001411124 XM_005254730
VERSION NM_001411124.1
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 4155)
AUTHORS Lu S, Ma M, Mao X, Bacino CA, Jankovic J, Sutton VR, Bartley JA,
Wang X, Rosenfeld JA, Beleza-Meireles A, Chauhan J, Pan X, Li M,
Liu P, Prescott K, Amin S, Davies G, Wangler MF, Dai Y and Bellen
HJ.
TITLE De novo variants in FRMD5 are associated with developmental delay,
intellectual disability, ataxia, and abnormalities of eye movement
JOURNAL Am J Hum Genet 109 (10), 1932-1943 (2022)
PUBMED 36206744
REMARK GeneRIF: De novo variants in FRMD5 are associated with
developmental delay, intellectual disability, ataxia, and
abnormalities of eye movement.
REFERENCE 2 (bases 1 to 4155)
AUTHORS Gawel AM, Ratajczak M, Gajda E, Grzanka M, Paziewska A, Cieslicka
M, Kulecka M, Oczko-Wojciechowska M and Godlewska M.
TITLE Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid
Carcinoma
JOURNAL Int J Mol Sci 22 (13), 6726 (2021)
PUBMED 34201607
REMARK GeneRIF: Analysis of the Role of FRMD5 in the Biology of Papillary
Thyroid Carcinoma.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 4155)
AUTHORS Mao X, Tey SK, Ko FCF, Kwong EML, Gao Y, Ng IO, Cheung ST, Guan XY
and Yam JWP.
TITLE C-terminal truncated HBx protein activates
caveolin-1/LRP6/beta-catenin/FRMD5 axis in promoting
hepatocarcinogenesis
JOURNAL Cancer Lett 444, 60-69 (2019)
PUBMED 30583072
REMARK GeneRIF: High FRMD5 expression is associated with
hepatocarcinogenesis.
REFERENCE 4 (bases 1 to 4155)
AUTHORS Zhu C, Yamaguchi K, Ohsugi T, Terakado Y, Noguchi R, Ikenoue T and
Furukawa Y.
TITLE Identification of FERM domain-containing protein 5 as a novel
target of beta-catenin/TCF7L2 complex
JOURNAL Cancer Sci 108 (4), 612-619 (2017)
PUBMED 28117551
REMARK GeneRIF: Data show that FERM domain-containing protein 5 (FRMD5) is
regulated by both beta-catenin and transcription factor 7-Like 2
protein (TCF7L2) in colon cancer cells.
REFERENCE 5 (bases 1 to 4155)
AUTHORS Guo T, Yin RX, Pan L, Yang S, Miao L and Huang F.
TITLE Integrative variants, haplotypes and diplotypes of the CAPN3 and
FRMD5 genes and several environmental exposures associate with
serum lipid variables
JOURNAL Sci Rep 7, 45119 (2017)
PUBMED 28332615
REMARK GeneRIF: We conclude that integrative variants, haplotypes and
diplotypes of the CAPN3 rs4344713 and FRMD5 rs524908, as well as
DBP and BMI are associated with serum lipid variables in the Jing
and Han populations.
Publication Status: Online-Only
REFERENCE 6 (bases 1 to 4155)
AUTHORS Hu J, Niu M, Li X, Lu D, Cui J, Xu W, Li G, Zhan J and Zhang H.
TITLE FERM domain-containing protein FRMD5 regulates cell motility via
binding to integrin beta5 subunit and ROCK1
JOURNAL FEBS Lett 588 (23), 4348-4356 (2014)
PUBMED 25448675
REMARK GeneRIF: FRMD5 regulates tumor cell motility via a dual pathway
involving FRMD5 binding to integrin beta5 tail and to ROCK1
REFERENCE 7 (bases 1 to 4155)
AUTHORS Willer CJ, Schmidt EM, Sengupta S, Peloso GM, Gustafsson S, Kanoni
S, Ganna A, Chen J, Buchkovich ML, Mora S, Beckmann JS,
Bragg-Gresham JL, Chang HY, Demirkan A, Den Hertog HM, Do R,
Donnelly LA, Ehret GB, Esko T, Feitosa MF, Ferreira T, Fischer K,
Fontanillas P, Fraser RM, Freitag DF, Gurdasani D, Heikkila K,
Hypponen E, Isaacs A, Jackson AU, Johansson A, Johnson T, Kaakinen
M, Kettunen J, Kleber ME, Li X, Luan J, Lyytikainen LP, Magnusson
PKE, Mangino M, Mihailov E, Montasser ME, Muller-Nurasyid M, Nolte
IM, O'Connell JR, Palmer CD, Perola M, Petersen AK, Sanna S, Saxena
R, Service SK, Shah S, Shungin D, Sidore C, Song C, Strawbridge RJ,
Surakka I, Tanaka T, Teslovich TM, Thorleifsson G, Van den Herik
EG, Voight BF, Volcik KA, Waite LL, Wong A, Wu Y, Zhang W, Absher
D, Asiki G, Barroso I, Been LF, Bolton JL, Bonnycastle LL,
Brambilla P, Burnett MS, Cesana G, Dimitriou M, Doney ASF, Doring
A, Elliott P, Epstein SE, Ingi Eyjolfsson G, Gigante B, Goodarzi
MO, Grallert H, Gravito ML, Groves CJ, Hallmans G, Hartikainen AL,
Hayward C, Hernandez D, Hicks AA, Holm H, Hung YJ, Illig T, Jones
MR, Kaleebu P, Kastelein JJP, Khaw KT, Kim E, Klopp N, Komulainen
P, Kumari M, Langenberg C, Lehtimaki T, Lin SY, Lindstrom J, Loos
RJF, Mach F, McArdle WL, Meisinger C, Mitchell BD, Muller G,
Nagaraja R, Narisu N, Nieminen TVM, Nsubuga RN, Olafsson I, Ong KK,
Palotie A, Papamarkou T, Pomilla C, Pouta A, Rader DJ, Reilly MP,
Ridker PM, Rivadeneira F, Rudan I, Ruokonen A, Samani N, Scharnagl
H, Seeley J, Silander K, Stancakova A, Stirrups K, Swift AJ, Tiret
L, Uitterlinden AG, van Pelt LJ, Vedantam S, Wainwright N, Wijmenga
C, Wild SH, Willemsen G, Wilsgaard T, Wilson JF, Young EH, Zhao JH,
Adair LS, Arveiler D, Assimes TL, Bandinelli S, Bennett F, Bochud
M, Boehm BO, Boomsma DI, Borecki IB, Bornstein SR, Bovet P, Burnier
M, Campbell H, Chakravarti A, Chambers JC, Chen YI, Collins FS,
Cooper RS, Danesh J, Dedoussis G, de Faire U, Feranil AB, Ferrieres
J, Ferrucci L, Freimer NB, Gieger C, Groop LC, Gudnason V,
Gyllensten U, Hamsten A, Harris TB, Hingorani A, Hirschhorn JN,
Hofman A, Hovingh GK, Hsiung CA, Humphries SE, Hunt SC, Hveem K,
Iribarren C, Jarvelin MR, Jula A, Kahonen M, Kaprio J, Kesaniemi A,
Kivimaki M, Kooner JS, Koudstaal PJ, Krauss RM, Kuh D, Kuusisto J,
Kyvik KO, Laakso M, Lakka TA, Lind L, Lindgren CM, Martin NG, Marz
W, McCarthy MI, McKenzie CA, Meneton P, Metspalu A, Moilanen L,
Morris AD, Munroe PB, Njolstad I, Pedersen NL, Power C, Pramstaller
PP, Price JF, Psaty BM, Quertermous T, Rauramaa R, Saleheen D,
Salomaa V, Sanghera DK, Saramies J, Schwarz PEH, Sheu WH, Shuldiner
AR, Siegbahn A, Spector TD, Stefansson K, Strachan DP, Tayo BO,
Tremoli E, Tuomilehto J, Uusitupa M, van Duijn CM, Vollenweider P,
Wallentin L, Wareham NJ, Whitfield JB, Wolffenbuttel BHR, Ordovas
JM, Boerwinkle E, Palmer CNA, Thorsteinsdottir U, Chasman DI,
Rotter JI, Franks PW, Ripatti S, Cupples LA, Sandhu MS, Rich SS,
Boehnke M, Deloukas P, Kathiresan S, Mohlke KL, Ingelsson E and
Abecasis GR.
CONSRTM Global Lipids Genetics Consortium
TITLE Discovery and refinement of loci associated with lipid levels
JOURNAL Nat Genet 45 (11), 1274-1283 (2013)
PUBMED 24097068
REFERENCE 8 (bases 1 to 4155)
AUTHORS Wang T, Pei X, Zhan J, Hu J, Yu Y and Zhang H.
TITLE FERM-containing protein FRMD5 is a p120-catenin interacting protein
that regulates tumor progression
JOURNAL FEBS Lett 586 (19), 3044-3050 (2012)
PUBMED 22846708
REMARK GeneRIF: FRMD5 may play a role in p120-catenin-based cell-cell
contact and is involved in the regulation of tumor progression
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AC073940.4 and AC023356.8.
On Aug 22, 2022 this sequence version replaced XM_005254730.4.
##Evidence-Data-START##
Transcript exon combination :: SRR14038196.3055021.1,
SRR18074967.1626238.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1966682,
SAMEA1968189 [ECO:0006172]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-319 AC073940.4 23537-23855 c
320-424 AC023356.8 126049-126153 c
425-467 AC023356.8 121611-121653 c
468-546 AC023356.8 121303-121381 c
547-644 AC023356.8 111726-111823 c
645-768 AC023356.8 107672-107795 c
769-856 AC023356.8 104019-104106 c
857-945 AC023356.8 93825-93913 c
946-1009 AC023356.8 90653-90716 c
1010-1101 AC023356.8 90019-90110 c
1102-1176 AC023356.8 87525-87599 c
1177-1245 AC023356.8 86571-86639 c
1246-1352 AC023356.8 85547-85653 c
1353-1696 AC023356.8 75963-76306 c
1697-4155 AC023356.8 72608-75066 c
FEATURES Location/Qualifiers
source 1..4155
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q15.3"
gene 1..4155
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="FERM domain containing 5"
/db_xref="GeneID:84978"
/db_xref="HGNC:HGNC:28214"
/db_xref="MIM:616309"
exon 1..319
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
misc_feature 113..115
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="upstream in-frame stop codon"
CDS 218..1771
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="isoform 9 is encoded by transcript variant 9; FERM
domain-containing protein 5"
/codon_start=1
/product="FERM domain-containing protein 5 isoform 9"
/protein_id="NP_001398053.1"
/db_xref="CCDS:CCDS91990.1"
/db_xref="GeneID:84978"
/db_xref="HGNC:HGNC:28214"
/db_xref="MIM:616309"
/translation="
MLSRLMSGSSRSLEREYSCTVRLLDDSEYTCTIQRDAKGQYLFDLLCHHLNLLEKDYFGIRFVDPDKQRHWLEFTKSVVKQLRSQPPFTMCFRVKFYPADPAALKEEITRYLVFLQIKRDLYHGRLLCKTSDAALLAAYILQAEIGDYDSGKHPEGYSSKFQFFPKHSEKLERKIAEIHKTELSGQTPATSELNFLRKAQTLETYGVDPHPCKDVSGNAAFLAFTPFGFVVLQGNKRVHFIKWNEVTKLKFEGKTFYLYVSQKEEKKIILTYFAPTPEACKHLWKCGIENQAFYKLEKSSQVRTVSSSNLFFKGSRFRYSGRVAKEVMESSAKIKREPPEIHRAGMVPSRSCPSITHGPRLSSVPRTRRRAVHISIMEGLESLRDSAHSTPVRSTSHGDTFLPHVRSSRTDSNERVAVIADEAYSPADSVLPTPVAEHSLELMLLSRQINGATCSIEEEKESEASTPTATEVEALGGELRALCQGHSGPEEEQSGHLKGPPLQQQQHQGWGKSVPLV"
misc_feature 272..847
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="Band 4.1 homologues; Region: B41; smart00295"
/db_xref="CDD:214604"
misc_feature 788..1102
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="FERM domain C-lobe of FERM domain-containing
protein 3 and 5 (FRMD3 and 5); Region: FERM_C_FRMD3_FRMD5;
cd13192"
/db_xref="CDD:270013"
misc_feature order(857..859,908..910,914..916,932..934)
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="putative phosphoinositide binding site [chemical
binding]; other site"
/db_xref="CDD:270013"
misc_feature order(944..946,959..970,1067..1069,1079..1081,1088..1093)
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="putative peptide binding site [polypeptide
binding]; other site"
/db_xref="CDD:270013"
misc_feature 1067..1102
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="putative actin binding site 2 [polypeptide
binding]; other site"
/db_xref="CDD:270013"
misc_feature 1139..1276
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="propagated from UniProtKB/Swiss-Prot (Q7Z6J6.1);
Region: Interaction with ROCK1.
/evidence=ECO:0000269|PubMed:25448675"
misc_feature 1142..>1246
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="FERM adjacent (FA); Region: FA; pfam08736"
/db_xref="CDD:430180"
misc_feature 1247..1318
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="propagated from UniProtKB/Swiss-Prot (Q7Z6J6.1);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
misc_feature 1340..1342
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="Phosphoserine.
/evidence=ECO:0000250|UniProtKB:Q6P5H6; propagated from
UniProtKB/Swiss-Prot (Q7Z6J6.1); phosphorylation site"
misc_feature 1370..1438
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="propagated from UniProtKB/Swiss-Prot (Q7Z6J6.1);
Region: Disordered. /evidence=ECO:0000256|SAM:MobiDB-lite"
exon 320..424
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 425..467
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 468..546
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 547..644
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 645..768
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 769..856
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 857..945
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 946..1009
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 1010..1101
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 1102..1176
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 1177..1245
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 1246..1352
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 1353..1696
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
exon 1697..4155
/gene="FRMD5"
/gene_synonym="NEDEMA"
/inference="alignment:Splign:2.1.0"
regulatory 4137..4142
/regulatory_class="polyA_signal_sequence"
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="hexamer: AATAAA"
polyA_site 4155
/gene="FRMD5"
/gene_synonym="NEDEMA"
/note="major polyA site"
ORIGIN
agagcccggcgcttgatctgggctggggggaggcggtggcggctgagggaaggaggaggataaggaggaggaacgaggccagcaggaggcaacggcagcgacggggccggggtgatggtgcaggtgcctggggtcggtgcggagctgccgggctgagggacgcctggtccagggtccgcagcgccgccgcgtcgctcccgggcgggcgggcgggaagatgctgagcaggttgatgagcggcagcagcaggagcctggagcgcgagtacagctgcaccgtgcggctgctggacgacagcgagtacacctgcaccatccagagagatgccaaaggccagtacctgtttgaccttctttgccaccatctgaacctacttgagaaagactattttggtatccgctttgtagacccagataagcagcggcattggctggaatttacaaagtctgtggtgaaacaattgagatcccagcctccattcaccatgtgcttccgtgtgaagttttatcctgcagaccctgctgctctgaaagaagaaataaccaggtatttagtcttcctgcagatcaaaagggatctctaccatggccgactcctctgtaaaacatcggatgctgccttgttagcagcttacatccttcaagcggagattggggattatgactcagggaaacaccctgaaggctacagctccaagttccagtttttccctaaacattcagagaagctggaaaggaaaattgctgagattcacaagacggaactgagtggtcaaacaccagcaacatcagagctgaacttcttaagaaaagcacagacattggaaacatatggagtggatcctcacccatgtaaggacgtgtcaggaaatgctgcatttctggccttcactccttttgggtttgttgttcttcaaggaaacaagagggtccacttcattaaatggaatgaggtgaccaagctgaaatttgaaggaaagactttctatttatacgtaagtcagaaagaggaaaagaaaattattcttacatattttgctccaactcctgaagcgtgtaagcacctctggaaatgtggaatcgagaaccaagccttctacaagctggagaagtcaagccaagtccgcacagtgtccagcagcaatttattctttaaagggagccggttccgatacagtggccgagttgcaaaggaagtcatggaatcaagtgctaagatcaaacgggagccaccggaaatacacagagcagggatggttcccagccggagctgtccctccataacccatggcccaaggctgagcagcgtccccaggacccgcagaagagctgttcacatctccatcatggaaggcctagagtccttacgggacagtgcccattccacaccagtgcgttccacttcccatggggacaccttcctgcctcacgtgagaagcagccggacagatagcaatgagcgagtagctgtgattgcagacgaggcctacagccctgcagacagcgtgctgcccacccctgtggctgagcacagcctggagctgatgttgctttcccggcagatcaatggagccacctgcagcattgaggaggagaaggaatctgaagccagcaccccaactgctacagaggtggaggcccttgggggagagctgagggccctgtgtcaggggcacagcgggcccgaggaggaacagagtgggcatctgaagggaccaccgctacagcaacagcagcatcaggggtggggtaagtctgtccccttagtctagagcctagtgggcatcaccatagttttgtataatgaaactagacttaacgtgattttttttttccgaagaacctcaagacttttatagtgctccaggggcgttaaacgaattcagtggtaccagagatagatagttctgtcagaaatgttggacaaagtgtagttaagagaaagcagagttaagttacctgagagactgttgagatttggatagcagtgcttattttatatacacccccttgacccaaagactatttcaatttatattttaacaacgaaatgttattttcttaacaattcatattttgtttttactttatggattaagaaaatagagcctgatgaactaaacgatgcaagaaagaaactgatcctgagaatgaaaagcttcagaaaatagaattccaagatcaacagccttagaagggaccaggaaaagaatcttttaaaatagatttctaagagatgcctacaaaacacagaatgtgaccgtggcagagaccaacacttagatgtagaaatgctgccccctagggtcatcctctgcataagttctaggaaagcatcaccatccttgcagagggaagtcctcgaagcacgcagcacaggcatatgaagggcgagtgtgggatcctaggcccaagctcttcaactctaaaaccaatcacacacaagatcctgttttcatctcagggagagatttctaagtcatctggggcttgagggcttatttaagggtggtcaatggacatattcctggacccacacaaaagtagagcagctgctgataccctaattggacagccccaaacgcagaacagaacaagtcacttgtagacttgacctcccctattttgtcccccgagatggtagaaccatgtccatgtttacaatatgacaactgtggaataattggggttcttagggagagatttgcataattttaaagacatcctttcatctggaccagaggtcaatcaacttatgtcaagtgctacacagtaaatattttggtttagcacgccatactgtgtcacaactgctcaattctgccatcacagcacaaaaacagccacagataatttgtaaatgaaggaacatggctgtgttccaataaaactttatgaaaacagtgagctgaatttagcctacaggccataatacgccaatcctgctctagacaataaaactgatccttaccagtatgttagcagaagagggtcagtcagctctgtttccatgcctgacatgtatcaaagatctgggacctcttcccagtggaggcactagggttgcttgtttaaagggtgcttgaacaactaaccagcaaagagatgtctgatgccaaatgggcaagatcaaatactggaatgctaaaacacagctggaatctaagaagggaagagggcttctctgaccattttcataccagcaacaatttaggcagaattataaacatctatttatcgagtgacaatacaaaccgaaggagatcctagtagagattaggggtcagttaaaatcaactagccactgccacttgtcatctacatagcaaaggctttatttagcacaggactaacgtgaaaagtagacccagagatgaaaaggctgtcaggagacagggggctggtgtccacctggtatctactgtcttatgcaacatagaagattaccttttagtgtagtgctcctacctcagtttgtagaatctggtgtttctatgcagtgagtgatagcctcaactctgacctttcatattcacattagagacagatgcagtattccatatcctagtatgttccttgtgtctagagttctaacagtacagtagtctatgccatttctaacagctaaattttgctctgtaaacagaaactttagggttgtttttttccagggctcatcccagaaaatatggatagaaaagtttccttcagtttgcttttcaaatagtgcttgaataataaacctcctttgattggtgactagtcttttttggtatatctccacctttaaaaattgttcaagtttttaacctggttatactgtgttctaacatgtctctcattttctctcaaaattagtttatctcattgtagaaaaagcaatggttttcatagcttcatctatcaggaaataaaactcttactaaagaatagcatactgcatctttaagcagtagagggtaaactacctgcaaatgtgaatttcttagatacatttaaaaatatatagttgttaaccttctgtgtgccaaaaactcttaagttacattttccttcaaagcaatgtacttttttctacatatgcagtatgtagttagcataaaatcattggtgccatgaagattatttttaaacttaaataaatatttaaatatca
//
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]