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Protein

Breast carcinoma-amplified sequence 1

Gene

BCAS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Required for myelination.By similarity

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Breast carcinoma-amplified sequence 1
Alternative name(s):
Amplified and overexpressed in breast cancer
Novel amplified in breast cancer 1
Gene namesi
Name:BCAS1
Synonyms:AIBC1, NABC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000064787.12
HGNCiHGNC:974 BCAS1
MIMi602968 gene
neXtProtiNX_O75363

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi8537
OpenTargetsiENSG00000064787
PharmGKBiPA25284

Polymorphism and mutation databases

BioMutaiBCAS1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000648591 – 584Breast carcinoma-amplified sequence 1Add BLAST584

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei124PhosphoserineBy similarity1
Modified residuei192PhosphoserineBy similarity1
Modified residuei314PhosphoserineBy similarity1
Modified residuei381PhosphoserineBy similarity1
Modified residuei399PhosphoserineBy similarity1
Modified residuei480PhosphothreonineBy similarity1
Modified residuei552PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO75363
PaxDbiO75363
PeptideAtlasiO75363
PRIDEiO75363
ProteomicsDBi49926
49927 [O75363-2]

PTM databases

iPTMnetiO75363
PhosphoSitePlusiO75363

Expressioni

Tissue specificityi

Highly expressed in the brain and, more specifically, in oligodendrocytes (at protein level). Expressed in the prostate, and at lower levels in testis, intestine and colon. Overexpressed in most breast cancer cell lines and down-regulated in some colorectal tumors.3 Publications

Gene expression databases

BgeeiENSG00000064787 Expressed in 183 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_BCAS1
ExpressionAtlasiO75363 baseline and differential
GenevisibleiO75363 HS

Organism-specific databases

HPAiCAB033558
HPA051816
HPA054745

Interactioni

Subunit structurei

Homodimer (PubMed:14567997). Interacts with DYNLL1 and DYNLL2 (By similarity).By similarity1 Publication

Protein-protein interaction databases

BioGridi114107, 3 interactors
STRINGi9606.ENSP00000379290

Structurei

3D structure databases

ProteinModelPortaliO75363
SMRiO75363
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni565 – 584Interacts with DYNLL1 AND DYNLL2By similarityAdd BLAST20

Phylogenomic databases

eggNOGiENOG410IJ5W Eukaryota
ENOG41119UT LUCA
GeneTreeiENSGT00390000003167
HOGENOMiHOG000232037
HOVERGENiHBG082347
InParanoidiO75363
OMAiTQGAAKN
OrthoDBiEOG091G07RJ
PhylomeDBiO75363
TreeFamiTF335555

Family and domain databases

InterProiView protein in InterPro
IPR026115 NABC1
PANTHERiPTHR15016 PTHR15016, 2 hits

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75363-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MGNQMSVPQR VEDQENEPEA ETYQDNASAL NGVPVVVSTH TVQHLEEVDL
60 70 80 90 100
GISVKTDNVA TSSPETTEIS AVADANGKNL GKEAKPEAPA AKSRFFLMLS
110 120 130 140 150
RPVPGRTGDQ AADSSLGSVK LDVSSNKAPA NKDPSESWTL PVAAGPGQDT
160 170 180 190 200
DKTPGHAPAQ DKVLSAARDP TLLPPETGGA GGEAPSKPKD SSFFDKFFKL
210 220 230 240 250
DKGQEKVPGD SQQEAKRAEH QDKVDEVPGL SGQSDDVPAG KDIVDGKEKE
260 270 280 290 300
GQELGTADCS VPGDPEGLET AKDDSQAAAI AENNNSIMSF FKTLVSPNKA
310 320 330 340 350
ETKKDPEDTG AEKSPTTSAD LKSDKANFTS QETQGAGKNS KGCNPSGHTQ
360 370 380 390 400
SVTTPEPAKE GTKEKSGPTS LPLGKLFWKK SVKEDSVPTG AEENVVCESP
410 420 430 440 450
VEIIKSKEVE SALQTVDLNE GDAAPEPTEA KLKREESKPR TSLMAFLRQM
460 470 480 490 500
SVKGDGGITH SEEINGKDSS CQTSDSTEKT ITPPEPEPTG APQKGKEGSS
510 520 530 540 550
KDKKSAAEMN KQKSNKQEAK EPAQCTEQAT VDTNSLQNGD KLQKRPEKRQ
560 570 580
QSLGGFFKGL GPKRMLDAQV QTDPVSIGPV GKSK
Length:584
Mass (Da):61,709
Last modified:June 13, 2006 - v2
Checksum:i22921C0B37129944
GO
Isoform 2 (identifier: O75363-2) [UniParc]FASTAAdd to basket
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

Show »
Length:614
Mass (Da):65,663
Checksum:iDA05CD7CEB86C170
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3XAF7G3XAF7_HUMAN
Breast carcinoma amplified sequence...
BCAS1 hCG_37358
506Annotation score:
H0Y542H0Y542_HUMAN
Breast carcinoma-amplified sequence...
BCAS1
476Annotation score:
H7C1E7H7C1E7_HUMAN
Breast carcinoma-amplified sequence...
BCAS1
247Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti361G → D in CAH18437 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02667424Q → K. Corresponds to variant dbSNP:rs394732Ensembl.1
Natural variantiVAR_026675163V → A. Corresponds to variant dbSNP:rs158551Ensembl.1
Natural variantiVAR_024251255G → E. Corresponds to variant dbSNP:rs6022903Ensembl.1
Natural variantiVAR_050691472Q → H. Corresponds to variant dbSNP:rs35575210Ensembl.1
Natural variantiVAR_026676583S → P1 PublicationCorresponds to variant dbSNP:rs1055246Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_018520309T → TASKAESVCDGQAGQKTSEI QARGTKKKHLDSPRLGLAFR KFFRHK in isoform 2. 2 Publications1
Alternative sequenceiVSP_018521381 – 394Missing in isoform 2. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_018522451 – 472Missing in isoform 2. 2 PublicationsAdd BLAST22
Alternative sequenceiVSP_018523584K → KYTGKCVFSHVKKKWPFQEW SY in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS13444.1 [O75363-1]
RefSeqiNP_003648.2, NM_003657.3 [O75363-1]
UniGeneiHs.400556

Genome annotation databases

EnsembliENST00000395961; ENSP00000379290; ENSG00000064787 [O75363-1]
GeneIDi8537
KEGGihsa:8537
UCSCiuc002xws.3 human [O75363-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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
CCDSiCCDS13444.1 [O75363-1]
RefSeqiNP_003648.2, NM_003657.3 [O75363-1]
UniGeneiHs.400556

3D structure databases

ProteinModelPortaliO75363
SMRiO75363
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114107, 3 interactors
STRINGi9606.ENSP00000379290

PTM databases

iPTMnetiO75363
PhosphoSitePlusiO75363

Polymorphism and mutation databases

BioMutaiBCAS1

Proteomic databases

MaxQBiO75363
PaxDbiO75363
PeptideAtlasiO75363
PRIDEiO75363
ProteomicsDBi49926
49927 [O75363-2]

Protocols and materials databases

DNASUi8537
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000395961; ENSP00000379290; ENSG00000064787 [O75363-1]
GeneIDi8537
KEGGihsa:8537
UCSCiuc002xws.3 human [O75363-1]

Organism-specific databases

CTDi8537
DisGeNETi8537
EuPathDBiHostDB:ENSG00000064787.12
GeneCardsiBCAS1
H-InvDBiHIX0015925
HGNCiHGNC:974 BCAS1
HPAiCAB033558
HPA051816
HPA054745
MIMi602968 gene
neXtProtiNX_O75363
OpenTargetsiENSG00000064787
PharmGKBiPA25284
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJ5W Eukaryota
ENOG41119UT LUCA
GeneTreeiENSGT00390000003167
HOGENOMiHOG000232037
HOVERGENiHBG082347
InParanoidiO75363
OMAiTQGAAKN
OrthoDBiEOG091G07RJ
PhylomeDBiO75363
TreeFamiTF335555

Miscellaneous databases

ChiTaRSiBCAS1 human
GeneWikiiBCAS1
GenomeRNAii8537
PROiPR:O75363
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064787 Expressed in 183 organ(s), highest expression level in C1 segment of cervical spinal cord
CleanExiHS_BCAS1
ExpressionAtlasiO75363 baseline and differential
GenevisibleiO75363 HS

Family and domain databases

InterProiView protein in InterPro
IPR026115 NABC1
PANTHERiPTHR15016 PTHR15016, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiBCAS1_HUMAN
AccessioniPrimary (citable) accession number: O75363
Secondary accession number(s): A0AVG5, Q68CZ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: June 13, 2006
Last modified: November 7, 2018
This is version 138 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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