BCAS4_HUMAN
ID BCAS4_HUMAN Reviewed; 211 AA.
AC Q8TDM0; Q5TD52; Q5TD53; Q5TD54; Q5U5K7; Q5XKE8; Q8IXI7; Q8NEZ6; Q8TDL9;
AC Q9NX13; Q9Y511;
DT 25-JUL-2003, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2002, sequence version 1.
DT 03-AUG-2022, entry version 148.
DE RecName: Full=Breast carcinoma-amplified sequence 4;
GN Name=BCAS4;
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), TISSUE SPECIFICITY, AND CHROMOSOMAL
RP TRANSLOCATION WITH BCAS3.
RC TISSUE=Liver;
RX PubMed=12378525; DOI=10.1002/gcc.10121;
RA Baerlund M., Monni O., Weaver J.D., Kauraniemi P., Sauter G., Heiskanen M.,
RA Kallioniemi O.-P., Kallioniemi A.;
RT "Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo
RT amplification, overexpression, and fusion in breast cancer.";
RL Genes Chromosomes Cancer 35:311-317(2002).
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] OF 14-211 (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 25-211 (ISOFORM 1), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 18-211 (ISOFORM 3).
RC TISSUE=Lymph;
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 [5]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 27-211 (ISOFORM 2).
RA Bauer M.;
RT "Cloning and sequencing of a new BCAS4 isoform (BCAS4 isoform 1).";
RL Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
CC -!- INTERACTION:
CC Q8TDM0-3; Q9C005: DPY30; NbExp=3; IntAct=EBI-13025473, EBI-744973;
CC Q8TDM0-3; Q9H0I2: ENKD1; NbExp=3; IntAct=EBI-13025473, EBI-744099;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8TDM0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TDM0-2; Sequence=VSP_007854, VSP_007855;
CC Name=3;
CC IsoId=Q8TDM0-3; Sequence=VSP_015289, VSP_015290;
CC -!- TISSUE SPECIFICITY: Brain, thymus, spleen, kidney and placenta.
CC Overexpressed in most breast cancer cell lines.
CC {ECO:0000269|PubMed:12378525}.
CC -!- DISEASE: Note=A chromosomal aberration involving BCAS4 has been found
CC in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13)
CC with BCAS3.
CC -!- SIMILARITY: Belongs to the cappuccino family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH38381.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=BAA91209.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC Sequence=CAD53579.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/BCAS4ID767.html";
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DR EMBL; AF361220; AAL99633.1; -; mRNA.
DR EMBL; AF361221; AAL99634.1; ALT_TERM; mRNA.
DR EMBL; AL031680; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL133228; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AK000502; BAA91209.1; ALT_INIT; mRNA.
DR EMBL; BC038381; AAH38381.1; ALT_INIT; mRNA.
DR EMBL; BC047337; AAH47337.1; -; mRNA.
DR EMBL; AJ511266; CAD53579.1; ALT_INIT; mRNA.
DR CCDS; CCDS33487.1; -. [Q8TDM0-1]
DR RefSeq; NP_001010974.1; NM_001010974.2.
DR RefSeq; NP_060313.3; NM_017843.4. [Q8TDM0-1]
DR RefSeq; NP_942094.2; NM_198799.3.
DR RefSeq; XP_011527189.1; XM_011528887.2. [Q8TDM0-3]
DR AlphaFoldDB; Q8TDM0; -.
DR SMR; Q8TDM0; -.
DR BioGRID; 120785; 16.
DR IntAct; Q8TDM0; 13.
DR STRING; 9606.ENSP00000351642; -.
DR GlyGen; Q8TDM0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8TDM0; -.
DR PhosphoSitePlus; Q8TDM0; -.
DR BioMuta; BCAS4; -.
DR DMDM; 33301030; -.
DR EPD; Q8TDM0; -.
DR jPOST; Q8TDM0; -.
DR MassIVE; Q8TDM0; -.
DR MaxQB; Q8TDM0; -.
DR PaxDb; Q8TDM0; -.
DR PeptideAtlas; Q8TDM0; -.
DR PRIDE; Q8TDM0; -.
DR ProteomicsDB; 74298; -. [Q8TDM0-1]
DR ProteomicsDB; 74299; -. [Q8TDM0-2]
DR ProteomicsDB; 74300; -. [Q8TDM0-3]
DR Antibodypedia; 44045; 137 antibodies from 27 providers.
DR DNASU; 55653; -.
DR Ensembl; ENST00000358791.9; ENSP00000351642.5; ENSG00000124243.19. [Q8TDM0-1]
DR GeneID; 55653; -.
DR KEGG; hsa:55653; -.
DR UCSC; uc002xvq.4; human. [Q8TDM0-1]
DR CTD; 55653; -.
DR DisGeNET; 55653; -.
DR GeneCards; BCAS4; -.
DR HGNC; HGNC:14367; BCAS4.
DR HPA; ENSG00000124243; Tissue enhanced (lymphoid).
DR MIM; 607471; gene.
DR neXtProt; NX_Q8TDM0; -.
DR OpenTargets; ENSG00000124243; -.
DR PharmGKB; PA25287; -.
DR VEuPathDB; HostDB:ENSG00000124243; -.
DR eggNOG; ENOG502SAED; Eukaryota.
DR GeneTree; ENSGT00390000006790; -.
DR HOGENOM; CLU_096507_0_1_1; -.
DR InParanoid; Q8TDM0; -.
DR OMA; TPVPQMY; -.
DR OrthoDB; 1592082at2759; -.
DR PhylomeDB; Q8TDM0; -.
DR TreeFam; TF326629; -.
DR PathwayCommons; Q8TDM0; -.
DR SignaLink; Q8TDM0; -.
DR BioGRID-ORCS; 55653; 20 hits in 1068 CRISPR screens.
DR ChiTaRS; BCAS4; human.
DR GenomeRNAi; 55653; -.
DR Pharos; Q8TDM0; Tbio.
DR PRO; PR:Q8TDM0; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q8TDM0; protein.
DR Bgee; ENSG00000124243; Expressed in lymph node and 166 other tissues.
DR ExpressionAtlas; Q8TDM0; baseline and differential.
DR Genevisible; Q8TDM0; HS.
DR GO; GO:0031083; C:BLOC-1 complex; IBA:GO_Central.
DR InterPro; IPR024857; Cappuccino.
DR PANTHER; PTHR16230; PTHR16230; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Chromosomal rearrangement; Cytoplasm; Proto-oncogene;
KW Reference proteome.
FT CHAIN 1..211
FT /note="Breast carcinoma-amplified sequence 4"
FT /id="PRO_0000064865"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT SITE 60..61
FT /note="Breakpoint for translocation to form BCAS4-BCAS3"
FT VAR_SEQ 119..147
FT /note="AFVKMVGHHVAFLEADVLQAERDHGAFPQ -> KSPAPVPVTYELPTLYRTE
FT DYFPVDAGEA (in isoform 2)"
FT /evidence="ECO:0000303|Ref.5"
FT /id="VSP_007854"
FT VAR_SEQ 148..211
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|Ref.5"
FT /id="VSP_007855"
FT VAR_SEQ 164..203
FT /note="VECSGTIPARCNLRLPGSSDSPASASQVAGITEVTCTGAR -> KSPAPVPV
FT TYELPTLYRTEDYFPVDAGEAQHHPRTCPRPL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_015289"
FT VAR_SEQ 204..211
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_015290"
FT VARIANT 56
FT /note="E -> D (in dbSNP:rs2272962)"
FT /id="VAR_016031"
FT VARIANT 173
FT /note="R -> H (in dbSNP:rs7273412)"
FT /id="VAR_059590"
SQ SEQUENCE 211 AA; 22758 MW; D16930DBC982AF5B CRC64;
MQRTGGGAPR PGRNHGLPGS LRQPDPVALL MLLVDADQPE PMRSGARELA LFLTPEPGAE
AKEVEETIEG MLLRLEEFCS LADLIRSDTS QILEENIPVL KAKLTEMRGI YAKVDRLEAF
VKMVGHHVAF LEADVLQAER DHGAFPQALR RWLGSAGLPS FRNVECSGTI PARCNLRLPG
SSDSPASASQ VAGITEVTCT GARDVRAAHT V
