FOCAD_HUMAN
ID FOCAD_HUMAN Reviewed; 1801 AA.
AC Q5VW36; D3DRJ9; Q6ZME1; Q8IZG0; Q96JM8; Q96MS9; Q9BVF3; Q9NX87;
DT 15-JAN-2008, integrated into UniProtKB/Swiss-Prot.
DT 23-FEB-2022, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Focadhesin;
GN Name=FOCAD; Synonyms=KIAA1797;
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], AND VARIANT GLU-1668.
RC TISSUE=Brain;
RA Guo J.H., Chen L., Yu L.;
RL Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
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., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., 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., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., 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., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-915 AND 1305-1801, AND VARIANTS
RP ALA-1373 AND GLU-1668.
RC TISSUE=Endothelial cell, Hepatoma, and Teratocarcinoma;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 521-1801, AND VARIANT GLU-1668.
RC TISSUE=Brain;
RX PubMed=11347906; DOI=10.1093/dnares/8.2.85;
RA Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XX. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 8:85-95(2001).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1300-1801, AND VARIANT GLU-1668.
RC TISSUE=Choriocarcinoma;
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).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=16877819; DOI=10.1155/jbb/2006/71753;
RA Matlik K., Redik K., Speek M.;
RT "L1 antisense promoter drives tissue-specific transcription of human
RT genes.";
RL J. Biomed. Biotechnol. 2006:71753-71753(2006).
RN [8]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-819, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [9]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [10]
RP TISSUE SPECIFICITY, INTERACTION WITH VCL, AND FUNCTION.
RX PubMed=22427331; DOI=10.1093/brain/aws045;
RA Brockschmidt A., Trost D., Peterziel H., Zimmermann K., Ehrler M.,
RA Grassmann H., Pfenning P.N., Waha A., Wohlleber D., Brockschmidt F.F.,
RA Jugold M., Hoischen A., Kalla C., Waha A., Seifert G., Knolle P.A.,
RA Latz E., Hans V.H., Wick W., Pfeifer A., Angel P., Weber R.G.;
RT "KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour
RT suppressor function in gliomas.";
RL Brain 135:1027-1041(2012).
CC -!- FUNCTION: Potential tumor suppressor in gliomas. {ECO:0000250,
CC ECO:0000269|PubMed:22427331}.
CC -!- SUBUNIT: Interacts with VCL. {ECO:0000269|PubMed:22427331}.
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Cell junction, focal adhesion. Note=Colocalizes
CC with VCL in astrocytes.
CC -!- TISSUE SPECIFICITY: Ubiquitous. High expression in brain followed by
CC testis, muscle, pancreas, heart, ovary, small intestine, placenta,
CC prostate, thymus, kidney, colon, liver, lung, spleen and leukocytes.
CC Expression is reduced in most glioblastomas and all glioblastoma cell
CC lines. {ECO:0000269|PubMed:16877819, ECO:0000269|PubMed:22427331}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA91129.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAA91129.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAD18787.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AY139834; AAN17740.1; -; mRNA.
DR EMBL; AL392163; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445624; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662879; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471071; EAW58627.1; -; Genomic_DNA.
DR EMBL; CH471071; EAW58628.1; -; Genomic_DNA.
DR EMBL; CH471071; EAW58629.1; -; Genomic_DNA.
DR EMBL; AK000382; BAA91129.1; ALT_FRAME; mRNA.
DR EMBL; AK056522; BAB71203.1; -; mRNA.
DR EMBL; AK172818; BAD18787.1; ALT_INIT; mRNA.
DR EMBL; AB058700; BAB47426.1; -; mRNA.
DR EMBL; BC001246; AAH01246.2; -; mRNA.
DR CCDS; CCDS34993.1; -.
DR RefSeq; NP_060264.4; NM_017794.4.
DR RefSeq; XP_005251551.2; XM_005251494.3.
DR AlphaFoldDB; Q5VW36; -.
DR BioGRID; 120256; 55.
DR IntAct; Q5VW36; 9.
DR MINT; Q5VW36; -.
DR STRING; 9606.ENSP00000369599; -.
DR iPTMnet; Q5VW36; -.
DR PhosphoSitePlus; Q5VW36; -.
DR BioMuta; FOCAD; -.
DR DMDM; 74747342; -.
DR EPD; Q5VW36; -.
DR jPOST; Q5VW36; -.
DR MassIVE; Q5VW36; -.
DR MaxQB; Q5VW36; -.
DR PaxDb; Q5VW36; -.
DR PeptideAtlas; Q5VW36; -.
DR PRIDE; Q5VW36; -.
DR ProteomicsDB; 65516; -.
DR Antibodypedia; 66171; 10 antibodies from 6 providers.
DR DNASU; 54914; -.
DR Ensembl; ENST00000338382.11; ENSP00000344307.6; ENSG00000188352.13.
DR Ensembl; ENST00000380249.5; ENSP00000369599.1; ENSG00000188352.13.
DR GeneID; 54914; -.
DR KEGG; hsa:54914; -.
DR MANE-Select; ENST00000338382.11; ENSP00000344307.6; NM_001375567.1; NP_001362496.1.
DR UCSC; uc003zog.2; human.
DR CTD; 54914; -.
DR DisGeNET; 54914; -.
DR GeneCards; FOCAD; -.
DR HGNC; HGNC:23377; FOCAD.
DR HPA; ENSG00000188352; Tissue enriched (choroid).
DR MIM; 614606; gene.
DR neXtProt; NX_Q5VW36; -.
DR OpenTargets; ENSG00000188352; -.
DR PharmGKB; PA134934777; -.
DR VEuPathDB; HostDB:ENSG00000188352; -.
DR eggNOG; ENOG502QQKG; Eukaryota.
DR GeneTree; ENSGT00390000004438; -.
DR HOGENOM; CLU_002970_0_0_1; -.
DR InParanoid; Q5VW36; -.
DR PhylomeDB; Q5VW36; -.
DR TreeFam; TF323261; -.
DR PathwayCommons; Q5VW36; -.
DR SignaLink; Q5VW36; -.
DR BioGRID-ORCS; 54914; 21 hits in 1079 CRISPR screens.
DR ChiTaRS; FOCAD; human.
DR GeneWiki; KIAA1797; -.
DR GenomeRNAi; 54914; -.
DR Pharos; Q5VW36; Tbio.
DR PRO; PR:Q5VW36; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q5VW36; protein.
DR Bgee; ENSG00000188352; Expressed in choroid plexus epithelium and 192 other tissues.
DR ExpressionAtlas; Q5VW36; baseline and differential.
DR Genevisible; Q5VW36; HS.
DR GO; GO:0005925; C:focal adhesion; IDA:UniProtKB.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0060147; P:regulation of post-transcriptional gene silencing; IEA:InterPro.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR022542; FOCAD/RST1_DUF3730.
DR InterPro; IPR021392; Focadhesin.
DR InterPro; IPR045163; Focadhesin/RST1.
DR PANTHER; PTHR16212; PTHR16212; 1.
DR Pfam; PF12530; DUF3730; 1.
DR Pfam; PF11229; Focadhesin; 1.
DR SUPFAM; SSF48371; SSF48371; 2.
PE 1: Evidence at protein level;
KW Acetylation; Cell junction; Membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..1801
FT /note="Focadhesin"
FT /id="PRO_0000314457"
FT TRANSMEM 404..424
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 441..461
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 1036..1056
FT /note="Helical"
FT /evidence="ECO:0000255"
FT MOD_RES 819
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT VARIANT 166
FT /note="L -> S (in dbSNP:rs10511687)"
FT /id="VAR_037877"
FT VARIANT 234
FT /note="V -> I (in dbSNP:rs10441706)"
FT /id="VAR_037878"
FT VARIANT 523
FT /note="I -> V (in dbSNP:rs17832431)"
FT /id="VAR_037879"
FT VARIANT 718
FT /note="S -> T (in dbSNP:rs7875872)"
FT /id="VAR_037880"
FT VARIANT 721
FT /note="E -> K (in dbSNP:rs10964742)"
FT /id="VAR_049528"
FT VARIANT 1373
FT /note="T -> A (in dbSNP:rs3206852)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_061251"
FT VARIANT 1373
FT /note="T -> P (in dbSNP:rs3206852)"
FT /id="VAR_037881"
FT VARIANT 1373
FT /note="T -> S (in dbSNP:rs3206852)"
FT /id="VAR_061252"
FT VARIANT 1668
FT /note="K -> E (in dbSNP:rs4977881)"
FT /evidence="ECO:0000269|PubMed:11347906,
FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.1"
FT /id="VAR_037882"
FT CONFLICT 481
FT /note="A -> V (in Ref. 1; AAN17740 and 4; BAB71203)"
FT /evidence="ECO:0000305"
FT CONFLICT 1430
FT /note="E -> D (in Ref. 6; AAH01246)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1801 AA; 200058 MW; 29B82563BC904C81 CRC64;
MSDDIRKRFE FPNSLIQSQA VGHLIAAVLK ENGFSEKIHQ STNQTPALNL LWEKCCSDNV
VVRTACCEGL VALVAQDHAE FSYVLNGILN LIPSTRNTHG LIKAIMHLLQ MQALKEGQGG
EKNIQSIYTI RNHPHPLITV LEHRPDCWPV FLQQLTAFFQ QCPERLEVSC IQIMAPFLWY
LYCEPSQLQE YAKLRLALLK VLLQPQVLCD KDQPSILEQQ ILQLCCDIVP CLQVKDLIQT
TEAMMFIEEV CLSLLRHPVF WKIQLTQMSL QLLCVSEVSL KITGECSSSI HLLEHSVELL
KEDFPVELVI IGIALLLLQT PASQQKPILN LALKLLSVTE DQKIPKSSLL LVMPILQILS
STALEDCISV DEEGPSRQQL ALNLLEMIQQ ECYRDDHQKL SYKLVCPVTS MYGTIFTAWR
ILEVMTDSSA ASDWLASVES LLPITAVIPA PAFLLLAHLL VEDKGQNLHQ ILKVTTELAQ
ADSSQVPNLI PVLMFKLGRP LEPILYNDIL YTLPKLGVHK VCIGQILRII QLLGTTPRLR
AVTLRLLTSL WEKQDRVYPE LQRFMAVSDV PSLSVGKEVQ WEKLIAKAAS IRDICKQRPY
QHGADMLAAI SQVLNECTKP DQATPAALVL QGLHALCQAE VVCIRSTWNA LSPKLSCDTR
PLILKTLSEL FSLVPSLTVN TTEYENFKVQ VLSFLWTHTQ NKDPIVANAA YRSLANFSAG
EHTILHLPEK IRPEIPIPEE LDDDEDVEDV DLSVPGSCYL KLLSLTPPLV LPALEEFFTS
LVKQEMVNMP RGIYHSALKG GARSDQGKTV AGIPNFILKM YETNKQPGLK PGLAGGMLFC
YDVSMYQSKD GKPLNRLMAS RGRSFKQTSL ALVHEVHIQL SEWHRAIFLP QAWLAYMNRA
YHAILQGRLG ELELQLKHGK EEPEEVQYKK STAWLWVRDM LTDEITKAAA KESPVVKGNA
LLALSSLAVV VSRHEASLSS DSDGLLEVQP NFLSMKEWVS MVLDTLLVIV DSHYQPRGQL
LSWFYYKSYS GENTASAIAR SAAATALSLL VPVFIISCKE KVEEILNMLT ARLPGKPSAD
ESQAVQIHMG LALGMFLSRL CEEKLSDISG QEMNLLLMKS LDALENCCFD TSLEYNTGCI
LGVGLVLSLM SHSSQMQSRV HVAALLRKLS AHVDDSGSQS RTFQEVLAYT LSCVCTSAFS
AGIIEATEAE DVMNKLRLLV ENSQQTSGFA LALGNIVHGL SVCGHGKAED LGSKLLPAWI
RIVLTEGTPT MLCLAALHGM VALVGSEGDV MQLKSEAIQT SHFQGRLNEV IRTLTQVISV
SGVIGLQSNA VWLLGHLHLS TLSSSQSRAS VPTDYSYLPE SSFIGAAIGF FITGGKKGPE
SVPPSLLKVV MKPIATVGES YQYPPVNWAA LLSPLMRLNF GEEIQQLCLE IMVTQAQSSQ
NAAALLGLWV TPPLIHSLSL NTKRYLLISA PLWIKHISDE QILGFVENLM VAVFKAASPL
GSPELCPSAL HGLSQAMKLP SPAHHLWSLL SEATGKIFDL LPNKIRRKDL ELYISIAKCL
LEMTDDDANR IAQVTKSNIE KAAFVKLYLV SQGRFPLVNL TDMLSVAVQH REKEVLAWMI
LHSLYQARIV SHANTGVLKR MEWLLELMGY IRNVAYQSTS FHNTALDKAL DFFLLIFATA
VVAWADHTAP LLLGLSASWL PWHQENGPAG PVPSFLGRSP MHRVTLQEVL TLLPNSMALL
LQKEPWKEQT QKFIDWLFSI MESPKEALSA QSRDLLKATL LSLRVLPEFK KKAVWTRAYG
W
