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O75363 (BCAS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 84. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length584 AA.
Sequence statusComplete.
Protein existenceEvidence 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 componentCytoplasm
   Coding sequence diversityAlternative splicing
Polymorphism
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentcytoplasm

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 584584Breast carcinoma-amplified sequence 1
PRO_0000064859

Amino acid modifications

Modified residue5521Phosphoserine By similarity

Natural variations

Alternative sequence3091T → TASKAESVCDGQAGQKTSEI QARGTKKKHLDSPRLGLAFR KFFRHK in isoform 2.
VSP_018520
Alternative sequence381 – 39414Missing in isoform 2.
VSP_018521
Alternative sequence451 – 47222Missing in isoform 2.
VSP_018522
Alternative sequence5841K → KYTGKCVFSHVKKKWPFQEW SY in isoform 2.
VSP_018523
Natural variant241Q → K.
Corresponds to variant rs394732 [ dbSNP | Ensembl ].
VAR_026674
Natural variant1631V → A.
Corresponds to variant rs158551 [ dbSNP | Ensembl ].
VAR_026675
Natural variant2551G → E.
Corresponds to variant rs6022903 [ dbSNP | Ensembl ].
VAR_024251
Natural variant4721Q → H.
Corresponds to variant rs35575210 [ dbSNP | Ensembl ].
VAR_050691
Natural variant5831S → P. Ref.1
Corresponds to variant rs1055246 [ dbSNP | Ensembl ].
VAR_026676

Experimental info

Sequence conflict3611G → D in CAH18437. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 13, 2006. Version 2.
Checksum: 22921C0B37129944

FASTA58461,709
        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 

« Hide

Isoform 2 (5B) [UniParc].

Checksum: DA05CD7CEB86C170
Show »

FASTA61465,663

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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.
IPIIPI00025311.
IPI00744780.
RefSeqNP_003648.2. NM_003657.2.
UniGeneHs.728940.

3D structure databases

ProteinModelPortalO75363.
ModBaseSearch...

Protein-protein interaction databases

STRINGO75363.

PTM databases

PhosphoSiteO75363.

Proteomic databases

PRIDEO75363.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000395961; ENSP00000379290; ENSG00000064787.
GeneID8537.
KEGGhsa:8537.
NMPDRfig|9606.3.peg.20494.
UCSCuc002xws.2. human.
uc010gim.1. human.

Organism-specific databases

CTD8537.
GeneCardsGC20M052553.
H-InvDBHIX0015925.
HGNCHGNC:974. BCAS1.
HPACAB033558.
MIM602968. gene.
neXtProtNX_O75363.
PharmGKBPA25284.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG17630.
GeneTreeENSGT00390000003167.
HOVERGENHBG082347.
OMADKLFKLD.
OrthoDBEOG46143P.
PhylomeDBO75363.

Gene expression databases

ArrayExpressO75363.
BgeeO75363.
CleanExHS_BCAS1.
GenevestigatorO75363.
GermOnlineENSG00000064787. Homo sapiens.

Family and domain databases

ProtoNetSearch...

Other

NextBio31976.
SOURCESearch...

Entry information

Entry nameBCAS1_HUMAN
AccessionPrimary (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 statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human chromosome 20

Human chromosome 20: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot