FRMD1_HUMAN
ID FRMD1_HUMAN Reviewed; 549 AA.
AC Q8N878; B2RNV8; B3KUM6; Q5SZU7; Q9UFB0;
DT 25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT 25-JUL-2006, sequence version 2.
DT 03-AUG-2022, entry version 152.
DE RecName: Full=FERM domain-containing protein 1;
GN Name=FRMD1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP GLU-456.
RC TISSUE=Spleen, and Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLU-456.
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- INTERACTION:
CC Q8N878; P61019: RAB2A; NbExp=3; IntAct=EBI-11749206, EBI-752037;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N878-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N878-2; Sequence=VSP_041267;
CC -!- SEQUENCE CAUTION:
CC Sequence=CAB61397.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AK097179; BAC04972.1; -; mRNA.
DR EMBL; AK097579; BAG53488.1; -; mRNA.
DR EMBL; AL133077; CAB61397.2; ALT_SEQ; mRNA.
DR EMBL; AL589733; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC137144; AAI37145.1; -; mRNA.
DR CCDS; CCDS47518.1; -. [Q8N878-2]
DR CCDS; CCDS5306.1; -. [Q8N878-1]
DR PIR; T42674; T42674.
DR RefSeq; NP_001116313.1; NM_001122841.2. [Q8N878-2]
DR RefSeq; NP_079195.3; NM_024919.4. [Q8N878-1]
DR RefSeq; XP_011534448.1; XM_011536146.2.
DR RefSeq; XP_016866807.1; XM_017011318.1.
DR AlphaFoldDB; Q8N878; -.
DR SMR; Q8N878; -.
DR BioGRID; 123046; 101.
DR IntAct; Q8N878; 48.
DR STRING; 9606.ENSP00000283309; -.
DR iPTMnet; Q8N878; -.
DR PhosphoSitePlus; Q8N878; -.
DR BioMuta; FRMD1; -.
DR DMDM; 110808243; -.
DR MassIVE; Q8N878; -.
DR PaxDb; Q8N878; -.
DR PeptideAtlas; Q8N878; -.
DR PRIDE; Q8N878; -.
DR ProteomicsDB; 72378; -. [Q8N878-1]
DR ProteomicsDB; 72379; -. [Q8N878-2]
DR Antibodypedia; 33557; 62 antibodies from 12 providers.
DR DNASU; 79981; -.
DR Ensembl; ENST00000283309.11; ENSP00000283309.6; ENSG00000153303.18. [Q8N878-1]
DR Ensembl; ENST00000440994.6; ENSP00000414115.2; ENSG00000153303.18. [Q8N878-2]
DR GeneID; 79981; -.
DR KEGG; hsa:79981; -.
DR MANE-Select; ENST00000283309.11; ENSP00000283309.6; NM_024919.6; NP_079195.3.
DR UCSC; uc003qwn.6; human. [Q8N878-1]
DR CTD; 79981; -.
DR DisGeNET; 79981; -.
DR GeneCards; FRMD1; -.
DR HGNC; HGNC:21240; FRMD1.
DR HPA; ENSG00000153303; Tissue enhanced (intestine, lymphoid tissue, stomach, testis).
DR neXtProt; NX_Q8N878; -.
DR OpenTargets; ENSG00000153303; -.
DR PharmGKB; PA134993010; -.
DR VEuPathDB; HostDB:ENSG00000153303; -.
DR eggNOG; KOG4371; Eukaryota.
DR GeneTree; ENSGT00940000162787; -.
DR HOGENOM; CLU_036910_1_0_1; -.
DR InParanoid; Q8N878; -.
DR OrthoDB; 339620at2759; -.
DR PhylomeDB; Q8N878; -.
DR TreeFam; TF319780; -.
DR PathwayCommons; Q8N878; -.
DR SignaLink; Q8N878; -.
DR BioGRID-ORCS; 79981; 17 hits in 1069 CRISPR screens.
DR ChiTaRS; FRMD1; human.
DR GenomeRNAi; 79981; -.
DR Pharos; Q8N878; Tdark.
DR PRO; PR:Q8N878; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q8N878; protein.
DR Bgee; ENSG00000153303; Expressed in mucosa of transverse colon and 89 other tissues.
DR ExpressionAtlas; Q8N878; baseline and differential.
DR Genevisible; Q8N878; HS.
DR GO; GO:0098592; C:cytoplasmic side of apical plasma membrane; IBA:GO_Central.
DR GO; GO:0005856; C:cytoskeleton; IEA:InterPro.
DR GO; GO:0035332; P:positive regulation of hippo signaling; IBA:GO_Central.
DR CDD; cd14473; FERM_B-lobe; 1.
DR Gene3D; 1.20.80.10; -; 1.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR014352; FERM/acyl-CoA-bd_prot_sf.
DR InterPro; IPR035963; FERM_2.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR018979; FERM_N.
DR InterPro; IPR018980; FERM_PH-like_C.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR Pfam; PF00373; FERM_M; 1.
DR Pfam; PF09379; FERM_N; 1.
DR SMART; SM00295; B41; 1.
DR SMART; SM01196; FERM_C; 1.
DR SUPFAM; SSF47031; SSF47031; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
DR PROSITE; PS50057; FERM_3; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..549
FT /note="FERM domain-containing protein 1"
FT /id="PRO_0000247364"
FT DOMAIN 54..369
FT /note="FERM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00084"
FT REGION 1..40
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 377..400
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 422..464
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 434..464
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..71
FT /note="MAVPPRGRGIDPARTNPDTFPPSGARCMEPSPERPACSQQEPTLGMDAMASE
FT HRDVLVLLPSREQLRLAVG -> MDD (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_041267"
FT VARIANT 274
FT /note="R -> C (in dbSNP:rs902393)"
FT /id="VAR_027099"
FT VARIANT 456
FT /note="Q -> E (in dbSNP:rs1548349)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_027100"
SQ SEQUENCE 549 AA; 62523 MW; E64A1E3B9F48B0B7 CRC64;
MAVPPRGRGI DPARTNPDTF PPSGARCMEP SPERPACSQQ EPTLGMDAMA SEHRDVLVLL
PSREQLRLAV GVKATGRELF QQVCNVASIR DAQFFGLCVV RNNEYIFMDL EQKLSKYFSK
DWKKERNEGN EKPRAPFVAF LRVQHYVENG RVISDHRARH LYYCHLKERV LRSQCAHREE
AYFLLAACAL QADLGEHRES AHAGRYFEPH SYFPQWIITK RGIDYILRHM PTLHRERQGL
SPKEAMLCFI QEACRLEDVP VHFFRLHKDK KEGRPTVILG LALRGVHIYQ GKKLEIQLDG
LPAAQKLVYY TGCTWRSRHL LHLLRASHQL HLRVRPTLQQ LRQREEAEEK QHYRESYISD
ELELDLASRS FPGSGVSSQH CPHCLSRHSA DSHGSSYTSG IKANSWLRES REMSVDVPLE
VHGLHEKEPS SSPRTSRSHP STRGDSQATR QEPCTQVRTR GQSAEAVHQI QEMTAGVSEE
QHSHGLDDMQ LHQLALHPAP TSLSHTFHRA LDCRLAGPCE TRATLPSKRS SNCLALDLFG
EAPPQEFVV
