BCAS1_HUMAN
ID BCAS1_HUMAN Reviewed; 584 AA.
AC O75363; A0AVG5; Q68CZ3;
DT 24-JAN-2001, integrated into UniProtKB/Swiss-Prot.
DT 13-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Breast carcinoma-amplified sequence 1;
DE AltName: Full=Amplified and overexpressed in breast cancer;
DE AltName: Full=Novel amplified in breast cancer 1;
GN Name=BCAS1; Synonyms=AIBC1, NABC1;
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 [MRNA] (ISOFORM 1), AND VARIANT PRO-583.
RX PubMed=9671742; DOI=10.1073/pnas.95.15.8703;
RA Collins C., Rommens J.M., Kowbel D., Godfrey T., Tanner M., Hwang S.-I.,
RA Polikoff D., Nonet G., Cochran J., Myambo K., Jay K.E., Froula J.,
RA Cloutier T., Kuo W.-L., Yaswen P., Dairkee S., Giovanola J.,
RA Hutchinson G.B., Isola J., Kallioniemi O.-P., Palazzolo M., Martin C.,
RA Ericsson C., Pinkel D., Albertson D., Li W.-B., Gray J.W.;
RT "Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and
RT overexpressed in breast carcinoma.";
RL Proc. Natl. Acad. Sci. U.S.A. 95:8703-8708(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 264-330 (ISOFORM 2), AND TISSUE SPECIFICITY.
RX PubMed=10857754; DOI=10.1006/geno.2000.6172;
RA Correa R.G., de Carvalho A.F., Pinheiro N.A., Simpson A.J.G.,
RA de Souza S.J.;
RT "NABC1 (BCAS1): alternative splicing and downregulation in colorectal
RT tumors.";
RL Genomics 65:299-302(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 275-584 (ISOFORM 2).
RC TISSUE=Amygdala;
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 [6]
RP SUBUNIT, TISSUE SPECIFICITY, AND SUBCELLULAR LOCATION.
RX PubMed=14567997; DOI=10.1016/s0014-4827(03)00353-7;
RA Beardsley D.I., Kowbel D., Lataxes T.A., Mannino J.M., Xin H., Kim W.-J.,
RA Collins C., Brown K.D.;
RT "Characterization of the novel amplified in breast cancer-1 (NABC1) gene
RT product.";
RL Exp. Cell Res. 290:402-413(2003).
RN [7]
RP TISSUE SPECIFICITY.
RX PubMed=29212715; DOI=10.1126/scitranslmed.aam7816;
RA Fard M.K., van der Meer F., Sanchez P., Cantuti-Castelvetri L., Mandad S.,
RA Jaekel S., Fornasiero E.F., Schmitt S., Ehrlich M., Starost L.,
RA Kuhlmann T., Sergiou C., Schultz V., Wrzos C., Brueck W., Urlaub H.,
RA Dimou L., Stadelmann C., Simons M.;
RT "BCAS1 expression defines a population of early myelinating
RT oligodendrocytes in multiple sclerosis lesions.";
RL Sci. Transl. Med. 9:0-0(2017).
CC -!- FUNCTION: Required for myelination. {ECO:0000250|UniProtKB:Q80YN3}.
CC -!- SUBUNIT: Homodimer (PubMed:14567997). Interacts with DYNLL1 and DYNLL2
CC (By similarity). {ECO:0000250|UniProtKB:Q3ZB98,
CC ECO:0000269|PubMed:14567997}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14567997}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=O75363-1; Sequence=Displayed;
CC Name=2; Synonyms=5B;
CC IsoId=O75363-2; Sequence=VSP_018520, VSP_018521, VSP_018522,
CC VSP_018523;
CC -!- TISSUE SPECIFICITY: Highly expressed in the brain and, more
CC specifically, in oligodendrocytes (at protein level). Expressed in the
CC prostate, and at lower levels in testis, intestine and colon.
CC Overexpressed in most breast cancer cell lines and down-regulated in
CC some colorectal tumors. {ECO:0000269|PubMed:10857754,
CC ECO:0000269|PubMed:14567997, ECO:0000269|PubMed:29212715}.
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DR EMBL; AF041260; AAC39896.1; -; mRNA.
DR EMBL; AC004501; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC005220; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC126346; AAI26347.1; -; mRNA.
DR EMBL; AI904532; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CR749643; CAH18437.1; -; mRNA.
DR CCDS; CCDS13444.1; -. [O75363-1]
DR RefSeq; NP_003648.2; NM_003657.3. [O75363-1]
DR AlphaFoldDB; O75363; -.
DR BioGRID; 114107; 6.
DR IntAct; O75363; 2.
DR STRING; 9606.ENSP00000379290; -.
DR iPTMnet; O75363; -.
DR PhosphoSitePlus; O75363; -.
DR BioMuta; BCAS1; -.
DR jPOST; O75363; -.
DR MassIVE; O75363; -.
DR MaxQB; O75363; -.
DR PaxDb; O75363; -.
DR PeptideAtlas; O75363; -.
DR PRIDE; O75363; -.
DR ProteomicsDB; 49926; -. [O75363-1]
DR ProteomicsDB; 49927; -. [O75363-2]
DR Antibodypedia; 28750; 178 antibodies from 26 providers.
DR DNASU; 8537; -.
DR Ensembl; ENST00000395961.7; ENSP00000379290.3; ENSG00000064787.14. [O75363-1]
DR GeneID; 8537; -.
DR KEGG; hsa:8537; -.
DR UCSC; uc002xws.3; human. [O75363-1]
DR CTD; 8537; -.
DR DisGeNET; 8537; -.
DR GeneCards; BCAS1; -.
DR HGNC; HGNC:974; BCAS1.
DR HPA; ENSG00000064787; Tissue enhanced (brain, choroid plexus).
DR MIM; 602968; gene.
DR neXtProt; NX_O75363; -.
DR OpenTargets; ENSG00000064787; -.
DR PharmGKB; PA25284; -.
DR VEuPathDB; HostDB:ENSG00000064787; -.
DR eggNOG; ENOG502QTR2; Eukaryota.
DR GeneTree; ENSGT00390000003167; -.
DR HOGENOM; CLU_031051_0_0_1; -.
DR InParanoid; O75363; -.
DR OMA; EPAQCAE; -.
DR OrthoDB; 1009953at2759; -.
DR PhylomeDB; O75363; -.
DR TreeFam; TF335555; -.
DR PathwayCommons; O75363; -.
DR SignaLink; O75363; -.
DR BioGRID-ORCS; 8537; 9 hits in 1064 CRISPR screens.
DR ChiTaRS; BCAS1; human.
DR GeneWiki; BCAS1; -.
DR GenomeRNAi; 8537; -.
DR Pharos; O75363; Tbio.
DR PRO; PR:O75363; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; O75363; protein.
DR Bgee; ENSG00000064787; Expressed in C1 segment of cervical spinal cord and 176 other tissues.
DR ExpressionAtlas; O75363; baseline and differential.
DR Genevisible; O75363; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0042552; P:myelination; ISS:UniProtKB.
DR InterPro; IPR026115; NABC1.
DR PANTHER; PTHR15016; PTHR15016; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Phosphoprotein; Reference proteome.
FT CHAIN 1..584
FT /note="Breast carcinoma-amplified sequence 1"
FT /id="PRO_0000064859"
FT REGION 1..29
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 59..280
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 297..377
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 415..584
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 565..584
FT /note="Interacts with DYNLL1 AND DYNLL2"
FT /evidence="ECO:0000250|UniProtKB:Q3ZB98"
FT COMPBIAS 59..73
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 111..133
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 189..226
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 240..254
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 312..357
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 424..441
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 463..483
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 496..520
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 521..540
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 124
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3ZB98"
FT MOD_RES 192
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3ZB98"
FT MOD_RES 314
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3ZB98"
FT MOD_RES 381
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80YN3"
FT MOD_RES 399
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q80YN3"
FT MOD_RES 480
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q80YN3"
FT MOD_RES 552
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q3ZB98"
FT VAR_SEQ 309
FT /note="T -> TASKAESVCDGQAGQKTSEIQARGTKKKHLDSPRLGLAFRKFFRHK
FT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10857754,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_018520"
FT VAR_SEQ 381..394
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10857754,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_018521"
FT VAR_SEQ 451..472
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10857754,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_018522"
FT VAR_SEQ 584
FT /note="K -> KYTGKCVFSHVKKKWPFQEWSY (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10857754,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_018523"
FT VARIANT 24
FT /note="Q -> K (in dbSNP:rs394732)"
FT /id="VAR_026674"
FT VARIANT 163
FT /note="V -> A (in dbSNP:rs158551)"
FT /id="VAR_026675"
FT VARIANT 255
FT /note="G -> E (in dbSNP:rs6022903)"
FT /id="VAR_024251"
FT VARIANT 472
FT /note="Q -> H (in dbSNP:rs35575210)"
FT /id="VAR_050691"
FT VARIANT 583
FT /note="S -> P (in dbSNP:rs1055246)"
FT /evidence="ECO:0000269|PubMed:9671742"
FT /id="VAR_026676"
FT CONFLICT 361
FT /note="G -> D (in Ref. 5; CAH18437)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 584 AA; 61709 MW; 22921C0B37129944 CRC64;
MGNQMSVPQR VEDQENEPEA ETYQDNASAL NGVPVVVSTH TVQHLEEVDL GISVKTDNVA
TSSPETTEIS AVADANGKNL GKEAKPEAPA AKSRFFLMLS RPVPGRTGDQ AADSSLGSVK
LDVSSNKAPA NKDPSESWTL PVAAGPGQDT DKTPGHAPAQ DKVLSAARDP TLLPPETGGA
GGEAPSKPKD SSFFDKFFKL DKGQEKVPGD SQQEAKRAEH QDKVDEVPGL SGQSDDVPAG
KDIVDGKEKE GQELGTADCS VPGDPEGLET AKDDSQAAAI AENNNSIMSF FKTLVSPNKA
ETKKDPEDTG AEKSPTTSAD LKSDKANFTS QETQGAGKNS KGCNPSGHTQ SVTTPEPAKE
GTKEKSGPTS LPLGKLFWKK SVKEDSVPTG AEENVVCESP VEIIKSKEVE SALQTVDLNE
GDAAPEPTEA KLKREESKPR TSLMAFLRQM SVKGDGGITH SEEINGKDSS CQTSDSTEKT
ITPPEPEPTG APQKGKEGSS KDKKSAAEMN KQKSNKQEAK EPAQCTEQAT VDTNSLQNGD
KLQKRPEKRQ QSLGGFFKGL GPKRMLDAQV QTDPVSIGPV GKSK
