ID FRMD3_HUMAN Reviewed; 597 AA.
AC A2A2Y4; A8MQB0; B4DN14; Q53EP2; Q5JV59; Q5VZA1; Q86WP8; Q8IZ44;
AC Q8N3Y5; Q8N9L2;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-FEB-2007, sequence version 1.
DT 01-MAY-2013, entry version 62.
DE RecName: Full=FERM domain-containing protein 3;
DE AltName: Full=Band 4.1-like protein 4O;
DE AltName: Full=Ovary type protein 4.1;
DE Short=4.1O;
GN Name=FRMD3; Synonyms=EPB41L4O;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), TISSUE SPECIFICITY, AND
RP DEVELOPMENTAL STAGE.
RC TISSUE=Fetal brain;
RX PubMed=12601556; DOI=10.1007/s100380300015;
RA Ni X., Ji C., Cao G., Cheng H., Guo L., Gu S., Ying K., Zhao R.C.,
RA Mao Y.;
RT "Molecular cloning and characterization of the protein 4.1O gene, a
RT novel member of the protein 4.1 family with focal expression in
RT ovary.";
RL J. Hum. Genet. 48:101-106(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 34-597 (ISOFORM 2).
RC TISSUE=Cerebellum;
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.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA 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.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., 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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E.,
RA Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S.,
RA Babbage A.K., Babbage S., Bagguley C.L., Bailey J., Banerjee R.,
RA Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P.,
RA Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W.,
RA Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G.,
RA Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M.,
RA Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W.,
RA Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A.,
RA Frankland J.A., French L., Fricker D.G., Garner P., Garnett J.,
RA Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M.,
RA Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S.,
RA McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J.,
RA Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R.,
RA Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M.,
RA Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M.,
RA Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A.,
RA Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P.,
RA Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W.,
RA Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S.,
RA Rogers J., Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Brain, and Placenta;
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
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 17-597 (ISOFORM 1).
RC TISSUE=Kidney;
RA Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.;
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
RN [8]
RP FUNCTION.
RX PubMed=17260017; DOI=10.1038/sj.onc.1210225;
RA Haase D., Meister M., Muley T., Hess J., Teurich S., Schnabel P.,
RA Hartenstein B., Angel P.;
RT "FRMD3, a novel putative tumour suppressor in NSCLC.";
RL Oncogene 26:4464-4468(2007).
CC -!- FUNCTION: Putative tumor suppressor gene that may be implicated in
CC the origin and progression of lung cancer.
CC -!- SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein
CC (Potential).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=A2A2Y4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A2A2Y4-2; Sequence=VSP_031167;
CC Name=3;
CC IsoId=A2A2Y4-3; Sequence=VSP_031163, VSP_031165, VSP_031167;
CC Name=4;
CC IsoId=A2A2Y4-4; Sequence=VSP_031162, VSP_031166, VSP_031167;
CC Note=No experimental confirmation available;
CC Name=5;
CC IsoId=A2A2Y4-5; Sequence=VSP_031164;
CC -!- TISSUE SPECIFICITY: Ovary-specific.
CC -!- DEVELOPMENTAL STAGE: Expressed in skeletal muscle, lower levels in
CC thymus and brain.
CC -!- SIMILARITY: Contains 1 FERM domain.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC04321.1; Type=Erroneous initiation;
CC Sequence=EAW62650.1; Type=Erroneous initiation;
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DR EMBL; AY137774; AAN52119.1; -; mRNA.
DR EMBL; AK094281; BAC04321.1; ALT_INIT; mRNA.
DR EMBL; AK297722; BAG60076.1; -; mRNA.
DR EMBL; EF560742; ABQ59052.1; -; mRNA.
DR EMBL; AL161786; CAH72749.1; -; Genomic_DNA.
DR EMBL; AL137847; CAH72749.1; JOINED; Genomic_DNA.
DR EMBL; AL161786; CAH72750.2; -; Genomic_DNA.
DR EMBL; AL137847; CAH72750.2; JOINED; Genomic_DNA.
DR EMBL; AL450026; CAH72750.2; JOINED; Genomic_DNA.
DR EMBL; AL137847; CAI40734.1; -; Genomic_DNA.
DR EMBL; AL161786; CAI40734.1; JOINED; Genomic_DNA.
DR EMBL; AL137847; CAI40735.2; -; Genomic_DNA.
DR EMBL; AL161786; CAI40735.2; JOINED; Genomic_DNA.
DR EMBL; AL450026; CAI40735.2; JOINED; Genomic_DNA.
DR EMBL; AL137847; CAI40736.1; -; Genomic_DNA.
DR EMBL; AL161786; CAM17460.1; -; Genomic_DNA.
DR EMBL; AL137847; CAM17460.1; JOINED; Genomic_DNA.
DR EMBL; AL450026; CAM17460.1; JOINED; Genomic_DNA.
DR EMBL; AL450026; CAM19643.1; -; Genomic_DNA.
DR EMBL; AL137847; CAM19643.1; JOINED; Genomic_DNA.
DR EMBL; AL161786; CAM19643.1; JOINED; Genomic_DNA.
DR EMBL; AL450026; CAM19644.1; -; Genomic_DNA.
DR EMBL; AL137847; CAM19644.1; JOINED; Genomic_DNA.
DR EMBL; AL161786; CAM19644.1; JOINED; Genomic_DNA.
DR EMBL; AL137847; CAM19673.1; -; Genomic_DNA.
DR EMBL; AL161786; CAM19673.1; JOINED; Genomic_DNA.
DR EMBL; AL450026; CAM19673.1; JOINED; Genomic_DNA.
DR EMBL; CH471089; EAW62647.1; -; Genomic_DNA.
DR EMBL; CH471089; EAW62649.1; -; Genomic_DNA.
DR EMBL; CH471089; EAW62650.1; ALT_INIT; Genomic_DNA.
DR EMBL; CH471089; EAW62651.1; -; Genomic_DNA.
DR EMBL; BC023560; AAH23560.1; -; mRNA.
DR EMBL; BC037253; AAH37253.1; -; mRNA.
DR EMBL; AK223597; BAD97317.1; -; mRNA.
DR IPI; IPI00184358; -.
DR IPI; IPI00217088; -.
DR IPI; IPI00642471; -.
DR IPI; IPI00657701; -.
DR IPI; IPI00885145; -.
DR RefSeq; NP_001231888.1; NM_001244959.1.
DR RefSeq; NP_001231889.1; NM_001244960.1.
DR RefSeq; NP_001231890.1; NM_001244961.1.
DR RefSeq; NP_001231891.1; NM_001244962.1.
DR RefSeq; NP_777598.3; NM_174938.5.
DR UniGene; Hs.127535; -.
DR UniGene; Hs.741254; -.
DR ProteinModelPortal; A2A2Y4; -.
DR PhosphoSite; A2A2Y4; -.
DR PaxDb; A2A2Y4; -.
DR PRIDE; A2A2Y4; -.
DR DNASU; 257019; -.
DR Ensembl; ENST00000304195; ENSP00000303508; ENSG00000172159.
DR Ensembl; ENST00000328788; ENSP00000328615; ENSG00000172159.
DR Ensembl; ENST00000376434; ENSP00000365617; ENSG00000172159.
DR Ensembl; ENST00000376438; ENSP00000365621; ENSG00000172159.
DR GeneID; 257019; -.
DR KEGG; hsa:257019; -.
DR UCSC; uc004amq.1; human.
DR UCSC; uc004amr.1; human.
DR UCSC; uc004ams.2; human.
DR UCSC; uc022biz.1; human.
DR UCSC; uc022bja.1; human.
DR CTD; 257019; -.
DR GeneCards; GC09M085857; -.
DR H-InvDB; HIX0023043; -.
DR HGNC; HGNC:24125; FRMD3.
DR MIM; 607619; gene.
DR neXtProt; NX_A2A2Y4; -.
DR PharmGKB; PA134903920; -.
DR eggNOG; NOG331698; -.
DR HOVERGEN; HBG057180; -.
DR InParanoid; A2A2Y4; -.
DR OMA; FLCEIRQ; -.
DR GenomeRNAi; 257019; -.
DR NextBio; 92903; -.
DR ArrayExpress; A2A2Y4; -.
DR Bgee; A2A2Y4; -.
DR Genevestigator; A2A2Y4; -.
DR GO; GO:0005737; C:cytoplasm; IEA:InterPro.
DR GO; GO:0005856; C:cytoskeleton; IEA:InterPro.
DR GO; GO:0019898; C:extrinsic to membrane; IEA:InterPro.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR Gene3D; 1.20.80.10; -; 1.
DR Gene3D; 2.30.29.30; -; 1.
DR InterPro; IPR019749; Band_41_domain.
DR InterPro; IPR019750; Band_41_fam.
DR InterPro; IPR000798; Ez/rad/moesin_like.
DR InterPro; IPR014847; FERM-adjacent.
DR InterPro; IPR014352; FERM/acyl-CoA-bd_prot_3-hlx.
DR InterPro; IPR019748; FERM_central.
DR InterPro; IPR019747; FERM_CS.
DR InterPro; IPR000299; FERM_domain.
DR InterPro; IPR018979; FERM_N.
DR InterPro; IPR018980; FERM_PH-like_C.
DR InterPro; IPR011993; PH_like_dom.
DR Pfam; PF08736; FA; 1.
DR Pfam; PF09380; FERM_C; 1.
DR Pfam; PF00373; FERM_M; 1.
DR Pfam; PF09379; FERM_N; 1.
DR PRINTS; PR00935; BAND41.
DR PRINTS; PR00661; ERMFAMILY.
DR SMART; SM00295; B41; 1.
DR SUPFAM; SSF47031; FERM_3-hlx; 1.
DR PROSITE; PS00660; FERM_1; 1.
DR PROSITE; PS00661; FERM_2; FALSE_NEG.
DR PROSITE; PS50057; FERM_3; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Membrane; Phosphoprotein;
KW Polymorphism; Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1 597 FERM domain-containing protein 3.
FT /FTId=PRO_0000318098.
FT TRANSMEM 531 551 Helical; (Potential).
FT DOMAIN 32 312 FERM.
FT MOD_RES 415 415 Phosphoserine (By similarity).
FT VAR_SEQ 1 344 Missing (in isoform 4).
FT /FTId=VSP_031162.
FT VAR_SEQ 1 194 Missing (in isoform 3).
FT /FTId=VSP_031163.
FT VAR_SEQ 1 49 MFASCHCVPRGRRTMKMIHFRSSSVKSLSQEMRCTIRLLDD
FT SEISCHIQ -> MQLSK (in isoform 5).
FT /FTId=VSP_031164.
FT VAR_SEQ 195 198 KNEL -> MVFR (in isoform 3).
FT /FTId=VSP_031165.
FT VAR_SEQ 345 398 SSKIQREPPEVHRANITQSRSSHSLNKQLIINMEPLQPLLP
FT SPSEQEEELPLGE -> MQAEETKGIGITSMAKCLVKIQTR
FT RSLQLHMVNHCNSNVFVRLLRLGSKVTARNT (in
FT isoform 4).
FT /FTId=VSP_031166.
FT VAR_SEQ 553 597 GIDLSFLCEIRQTPEFEQFHYEYYCPLKEWVAGKVHLILYM
FT LGCS -> VSMQ (in isoform 2, isoform 3 and
FT isoform 4).
FT /FTId=VSP_031167.
FT VARIANT 485 485 D -> Y (in dbSNP:rs4877747).
FT /FTId=VAR_048366.
FT CONFLICT 248 248 Q -> R (in Ref. 1; AAN52119).
FT CONFLICT 554 554 I -> V (in Ref. 1; AAN52119).
SQ SEQUENCE 597 AA; 68772 MW; 0B11ABBDDDE0AE67 CRC64;
MFASCHCVPR GRRTMKMIHF RSSSVKSLSQ EMRCTIRLLD DSEISCHIQR ETKGQFLIDH
ICNYYSLLEK DYFGIRYVDP EKQRHWLEPN KSIFKQMKTH PPYTMCFRVK FYPHEPLKIK
EELTRYLLYL QIKRDIFHGR LLCSFSDAAY LGACIVQAEL GDYDPDEHPE NYISEFEIFP
KQSQKLERKI VEIHKNELRG QSPPVAEFNL LLKAHTLETY GVDPHPCKDS TGTTTFLGFT
AAGFVVFQGN KRIHLIKWPD VCKLKFEGKT FYVIGTQKEK KAMLAFHTST PAACKHLWKC
GVENQAFYKY AKSSQIKTVS SSKIFFKGSR FRYSGKVAKE VVEASSKIQR EPPEVHRANI
TQSRSSHSLN KQLIINMEPL QPLLPSPSEQ EEELPLGEGV PLPKEENISA PLISSSPVKA
AREYEDPPSE EEDKIKEEPL TISELVYNPS ASLLPTPVDD DEIDMLFDCP SRLELEREDT
DSFEDLEADE NAFLIAEEEE LKEARRALSW SYDILTGHIR VNPLVKSFSR LLVVGLGLLL
FVFPLLLLLL ESGIDLSFLC EIRQTPEFEQ FHYEYYCPLK EWVAGKVHLI LYMLGCS
//
