O75363 (BCAS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Breast carcinoma-amplified sequence 1

Alternative name(s):
Amplified and overexpressed in breast cancer
Novel amplified in breast cancer 1

Gene names

Name:	BCAS1
Synonyms:	AIBC1, NABC1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	584 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Homodimer. May interact with DYNLL1 and DYNLL2 By similarity. Ref.6
Subcellular location	Cytoplasm Ref.6.
Tissue specificity	Expressed in brain and prostate, and at lower levels in testis, intestine and colon. Overexpressed in most breast cancer cell lines and down-regulated in some colorectal tumors. Ref.4 Ref.6

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75363-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: O75363-2)

Also known as: 5B;

The sequence of this isoform differs from the canonical sequence as follows:
     309-309: T → TASKAESVCDGQAGQKTSEIQARGTKKKHLDSPRLGLAFRKFFRHK
     381-394: Missing.
     451-472: Missing.
     584-584: K → KYTGKCVFSHVKKKWPFQEWSY

Note: Phosphorylated on Ser-340 (Probable).

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 584	584	Breast carcinoma-amplified sequence 1		PRO_0000064859
Amino acid modifications
	Modified residue	552	1	Phosphoserine By similarity
Natural variations
	Alternative sequence	309	1	T → TASKAESVCDGQAGQKTSEI QARGTKKKHLDSPRLGLAFR KFFRHK in isoform 2.		VSP_018520
	Alternative sequence	381 – 394	14	Missing in isoform 2.		VSP_018521
	Alternative sequence	451 – 472	22	Missing in isoform 2.		VSP_018522
	Alternative sequence	584	1	K → KYTGKCVFSHVKKKWPFQEW SY in isoform 2.		VSP_018523
	Natural variant	24	1	Q → K. Corresponds to variant rs394732 [ dbSNP | Ensembl ].		VAR_026674
	Natural variant	163	1	V → A. Corresponds to variant rs158551 [ dbSNP | Ensembl ].		VAR_026675
	Natural variant	255	1	G → E. Corresponds to variant rs6022903 [ dbSNP | Ensembl ].		VAR_024251
	Natural variant	472	1	Q → H. Corresponds to variant rs35575210 [ dbSNP | Ensembl ].		VAR_050691
	Natural variant	583	1	S → P. Ref.1 Corresponds to variant rs1055246 [ dbSNP | Ensembl ].		VAR_026676
Experimental info
	Sequence conflict	361	1	G → D in CAH18437. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 13, 2006. Version 2. Checksum: 22921C0B37129944	FASTA	584	61,709
	10 20 30 40 50 60 MGNQMSVPQR VEDQENEPEA ETYQDNASAL NGVPVVVSTH TVQHLEEVDL GISVKTDNVA 70 80 90 100 110 120 TSSPETTEIS AVADANGKNL GKEAKPEAPA AKSRFFLMLS RPVPGRTGDQ AADSSLGSVK 130 140 150 160 170 180 LDVSSNKAPA NKDPSESWTL PVAAGPGQDT DKTPGHAPAQ DKVLSAARDP TLLPPETGGA 190 200 210 220 230 240 GGEAPSKPKD SSFFDKFFKL DKGQEKVPGD SQQEAKRAEH QDKVDEVPGL SGQSDDVPAG 250 260 270 280 290 300 KDIVDGKEKE GQELGTADCS VPGDPEGLET AKDDSQAAAI AENNNSIMSF FKTLVSPNKA 310 320 330 340 350 360 ETKKDPEDTG AEKSPTTSAD LKSDKANFTS QETQGAGKNS KGCNPSGHTQ SVTTPEPAKE 370 380 390 400 410 420 GTKEKSGPTS LPLGKLFWKK SVKEDSVPTG AEENVVCESP VEIIKSKEVE SALQTVDLNE 430 440 450 460 470 480 GDAAPEPTEA KLKREESKPR TSLMAFLRQM SVKGDGGITH SEEINGKDSS CQTSDSTEKT 490 500 510 520 530 540 ITPPEPEPTG APQKGKEGSS KDKKSAAEMN KQKSNKQEAK EPAQCTEQAT VDTNSLQNGD 550 560 570 580 KLQKRPEKRQ QSLGGFFKGL GPKRMLDAQV QTDPVSIGPV GKSK
	Isoform 2 (5B) [UniParc]. Checksum: DA05CD7CEB86C170	FASTA	614	65,663
	10 20 30 40 50 60 MGNQMSVPQR VEDQENEPEA ETYQDNASAL NGVPVVVSTH TVQHLEEVDL GISVKTDNVA 70 80 90 100 110 120 TSSPETTEIS AVADANGKNL GKEAKPEAPA AKSRFFLMLS RPVPGRTGDQ AADSSLGSVK 130 140 150 160 170 180 LDVSSNKAPA NKDPSESWTL PVAAGPGQDT DKTPGHAPAQ DKVLSAARDP TLLPPETGGA 190 200 210 220 230 240 GGEAPSKPKD SSFFDKFFKL DKGQEKVPGD SQQEAKRAEH QDKVDEVPGL SGQSDDVPAG 250 260 270 280 290 300 KDIVDGKEKE GQELGTADCS VPGDPEGLET AKDDSQAAAI AENNNSIMSF FKTLVSPNKA 310 320 330 340 350 360 ETKKDPEDTA SKAESVCDGQ AGQKTSEIQA RGTKKKHLDS PRLGLAFRKF FRHKGAEKSP 370 380 390 400 410 420 TTSADLKSDK ANFTSQETQG AGKNSKGCNP SGHTQSVTTP EPAKEGTKEK SGPTSLPLGK 430 440 450 460 470 480 LFWKKVVCES PVEIIKSKEV ESALQTVDLN EGDAAPEPTE AKLKREESKP RTSLMAFLRQ 490 500 510 520 530 540 MTSDSTEKTI TPPEPEPTGA PQKGKEGSSK DKKSAAEMNK QKSNKQEAKE PAQCTEQATV 550 560 570 580 590 600 DTNSLQNGDK LQKRPEKRQQ SLGGFFKGLG PKRMLDAQVQ TDPVSIGPVG KSKYTGKCVF 610 SHVKKKWPFQ EWSY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Positional cloning of ZNF217 and NABC1: genes amplified at 20q13.2 and overexpressed in breast carcinoma." Collins C., Rommens J.M., Kowbel D., Godfrey T., Tanner M., Hwang S.-I., Polikoff D., Nonet G., Cochran J., Myambo K., Jay K.E., Froula J., Cloutier T., Kuo W.-L., Yaswen P., Dairkee S., Giovanola J., Hutchinson G.B. , Isola J., Kallioniemi O.-P., Palazzolo M., Martin C., Ericsson C., Pinkel D., Albertson D., Li W.-B., Gray J.W. Proc. Natl. Acad. Sci. U.S.A. 95:8703-8708(1998) [PubMed: 9671742] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-583.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"NABC1 (BCAS1): alternative splicing and downregulation in colorectal tumors." Correa R.G., de Carvalho A.F., Pinheiro N.A., Simpson A.J.G., de Souza S.J. Genomics 65:299-302(2000) [PubMed: 10857754] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 264-330 (ISOFORM 2), TISSUE SPECIFICITY.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 275-584 (ISOFORM 2). Tissue: Amygdala.
[6]	"Characterization of the novel amplified in breast cancer-1 (NABC1) gene product." Beardsley D.I., Kowbel D., Lataxes T.A., Mannino J.M., Xin H., Kim W.-J., Collins C., Brown K.D. Exp. Cell Res. 290:402-413(2003) [PubMed: 14567997] [Abstract] Cited for: SUBUNIT, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF041260 mRNA. Translation: AAC39896.1. AC004501 Genomic DNA. No translation available. AC005220 Genomic DNA. No translation available. BC126346 mRNA. Translation: AAI26347.1. AI904532 mRNA. No translation available. CR749643 mRNA. Translation: CAH18437.1.
IPI	IPI00025311. IPI00744780.
RefSeq	NP_003648.2. NM_003657.2.
UniGene	Hs.728940.
3D structure databases
ProteinModelPortal	O75363.
ModBase	Search...
Protein-protein interaction databases
STRING	O75363.
PTM databases
PhosphoSite	O75363.
Proteomic databases
PRIDE	O75363.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000395961; ENSP00000379290; ENSG00000064787.
GeneID	8537.
KEGG	hsa:8537.
NMPDR	fig|9606.3.peg.20494.
UCSC	uc002xws.2. human. uc010gim.1. human.
Organism-specific databases
CTD	8537.
GeneCards	GC20M052553.
H-InvDB	HIX0015925.
HGNC	HGNC:974. BCAS1.
HPA	CAB033558.
MIM	602968. gene.
neXtProt	NX_O75363.
PharmGKB	PA25284.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17630.
GeneTree	ENSGT00390000003167.
HOVERGEN	HBG082347.
OMA	DKLFKLD.
OrthoDB	EOG46143P.
PhylomeDB	O75363.
Gene expression databases
ArrayExpress	O75363.
Bgee	O75363.
CleanEx	HS_BCAS1.
Genevestigator	O75363.
GermOnline	ENSG00000064787. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	31976.
SOURCE	Search...

Entry information

Entry name

BCAS1_HUMAN

Accession

Primary (citable) accession number: O75363
Secondary accession number(s): A0AVG5, Q68CZ3

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 24, 2001
Last sequence update:	June 13, 2006
Last modified:	January 25, 2012
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.