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Protein

Breast carcinoma-amplified sequence 3

Gene

BCAS3

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

Functioni

Plays a role in angiogenesis. Participates in the regulation of cell polarity and directional endothelial cell migration by mediating both the activation and recruitment of CDC42 and the reorganization of the actin cytoskeleton at the cell leading edge. Promotes filipodia formation (By similarity). Functions synergistically with PELP1 as a transcriptional coactivator of estrogen receptor-responsive genes. Stimulates histone acetyltransferase activity. Binds to chromatin.By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processAngiogenesis, Transcription, Transcription regulation

Enzyme and pathway databases

SignaLinkiQ9H6U6

Names & Taxonomyi

Protein namesi
Recommended name:
Breast carcinoma-amplified sequence 3Imported
Alternative name(s):
GAOB1
Gene namesi
Name:BCAS3Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000141376.20
HGNCiHGNC:14347 BCAS3
MIMi607470 gene
neXtProtiNX_Q9H6U6

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, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving BCAS3 has been found in some breast carcinoma cell lines. Translocation t(17;20)(q23;q13) with BCAS4.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei824 – 825Breakpoint for translocation to form BCAS4-BCAS32

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi54828
OpenTargetsiENSG00000141376
PharmGKBiPA25286

Polymorphism and mutation databases

BioMutaiBCAS3
DMDMi313104248

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000508831 – 928Breast carcinoma-amplified sequence 3Add BLAST928

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Cross-linki215Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1); alternateCombined sources
Cross-linki215Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei461PhosphoserineBy similarity1
Modified residuei480PhosphoserineCombined sources1
Modified residuei488PhosphoserineBy similarity1
Modified residuei838PhosphoserineBy similarity1
Modified residuei886PhosphoserineCombined sources1
Modified residuei898PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9H6U6
MaxQBiQ9H6U6
PaxDbiQ9H6U6
PeptideAtlasiQ9H6U6
PRIDEiQ9H6U6
ProteomicsDBi81034
81035 [Q9H6U6-2]
81036 [Q9H6U6-3]
81037 [Q9H6U6-6]
81038 [Q9H6U6-7]
81039 [Q9H6U6-8]

PTM databases

iPTMnetiQ9H6U6
PhosphoSitePlusiQ9H6U6

Expressioni

Tissue specificityi

Expressed in stomach, liver, lung, kidney, prostate, testis, thyroid gland, adrenal gland, brain, heart, skeletal muscle, colon, spleen, small intestine, placenta, blood leukocyte and mammary epithelial cells. Expressed in undifferentiated ES cells. Expressed in blood islands and nascent blood vessels derived from differentiated ES cells into embryoid bodies (BD). Expressed in endothelial cells. Not detected in brain. Expressed in brain tumors (at protein level). Expressed in brain. Highly expressed in breast cancers and in glioma cell lines.3 Publications

Developmental stagei

Fetal.

Inductioni

By estrogen.1 Publication

Gene expression databases

BgeeiENSG00000141376 Expressed in 174 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ9H6U6 baseline and differential
GenevisibleiQ9H6U6 HS

Organism-specific databases

HPAiHPA052409
HPA057289

Interactioni

Subunit structurei

Interacts with histone H3, ESR1, KAT2B and PELP1; the interactions occur in a estrogen-dependent manner. Interacts with beta-tubulin and VIM.2 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi120182, 41 interactors
IntActiQ9H6U6, 29 interactors
MINTiQ9H6U6
STRINGi9606.ENSP00000375067

Structurei

3D structure databases

ProteinModelPortaliQ9H6U6
SMRiQ9H6U6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

Has been proposed to contain 7 WD repeats. This prediction could not be reproduced.1 Publication

Sequence similaritiesi

Belongs to the BCAS3 family.Curated

Phylogenomic databases

eggNOGiKOG2109 Eukaryota
KOG4415 Eukaryota
ENOG410XSW7 LUCA
GeneTreeiENSGT00390000006454
HOVERGENiHBG050676
InParanoidiQ9H6U6
OMAiRNMEFHE
OrthoDBiEOG091G038X
PhylomeDBiQ9H6U6
TreeFamiTF105856

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR022175 BCAS3
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12490 BCAS3, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 2 (identifier: Q9H6U6-1) [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
MNEAMATDSP RRPSRCTGGV VVRPQAVTEQ SYMESVVTFL QDVVPQAYSG
60 70 80 90 100
TPLTEEKEKI VWVRFENADL NDTSRNLEFH EIHSTGNEPP LLIMIGYSDG
110 120 130 140 150
MQVWSIPISG EAQELFSVRH GPIRAARILP APQFGAQKCD NFAEKRPLLG
160 170 180 190 200
VCKSIGSSGT SPPYCCVDLY SLRTGEMVKS IQFKTPIYDL HCNKRILVVV
210 220 230 240 250
LQEKIAAFDS CTFTKKFFVT SCYPCPGPNM NPIALGSRWL AYAENKLIRC
260 270 280 290 300
HQSRGGACGD NIQSYTATVI SAAKTLKSGL TMVGKVVTQL TGTLPSGVTE
310 320 330 340 350
DDVAIHSNSR RSPLVPGIIT VIDTETVGEG QVLVSEDSDS DGIVAHFPAH
360 370 380 390 400
EKPVCCMAFN TSGMLLVTTD TLGHDFHVFQ ILTHPWSSSQ CAVHHLYTLH
410 420 430 440 450
RGETEAKVQD ICFSHDCRWV VVSTLRGTSH VFPINPYGGQ PCVRTHMSPR
460 470 480 490 500
VVNRMSRFQK SAGLEEIEQE LTSKQGGRCS PVPGLSSSPS GSPLHGKLNS
510 520 530 540 550
QDSYNNFTNN NPGNPRLSPL PSLMVVMPLA QIKQPMTLGT ITKRTGPYLF
560 570 580 590 600
GAGCFSIKAP CKVKPPPQIS PSKSMGGEFC VAAIFGTSRS WFANNAGLKR
610 620 630 640 650
EKDQSKQVVV ESLYIISCYG TLVEHMMEPR PLSTAPKISD DTPLEMMTSP
660 670 680 690 700
RASWTLVRTP QWNELQPPFN ANHPLLLAAD AVQYYQFLLA GLVPPGSPGP
710 720 730 740 750
ITRHGSYDSL ASDHSGQEDE EWLSQVEIVT HTGPHRRLWM GPQFQFKTIH
760 770 780 790 800
PSGQTTVISS SSSVLQSHGP SDTPQPLLDF DTDDLDLNSL RIQPVRSDPV
810 820 830 840 850
SMPGSSRPVS DRRGVSTVID AASGTFDRSV TLLEVCGSWP EGFGLRHMSS
860 870 880 890 900
MEHTEEGLRE RLADAMAESP SRDVVGSGTE LQREGSIETL SNSSGSTSGS
910 920
IPRNFDGYRS PLPTNESQPL SLFPTGFP
Length:928
Mass (Da):101,237
Last modified:November 30, 2010 - v3
Checksum:i00D82E2EDCD1E8D7
GO
Isoform 1 (identifier: Q9H6U6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     547-561: Missing.

Show »
Length:913
Mass (Da):99,681
Checksum:i33A29CCC2357D75B
GO
Isoform 3 (identifier: Q9H6U6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     547-561: Missing.
     879-879: T → TDTALDVAVKTFPPERHVAVKCF

Show »
Length:935
Mass (Da):102,107
Checksum:iC5012DE917714AAB
GO
Isoform 4 (identifier: Q9H6U6-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     879-879: T → TDTALDVAVKTFPPERHVAVKCF

Show »
Length:950
Mass (Da):103,662
Checksum:i1515C78689B7ABB1
GO
Isoform 5 (identifier: Q9H6U6-7) [UniParc]FASTAAdd to basket
Also known as: Maaab1

The sequence of this isoform differs from the canonical sequence as follows:
     547-561: Missing.
     880-928: ELQREGSIET...PLSLFPTGFP → DTALDVAVKT...SARGKHRDSE

Note: No experimental confirmation available.Curated
Show »
Length:928
Mass (Da):101,516
Checksum:iEAA80786E40CE757
GO
Isoform 6 (identifier: Q9H6U6-6) [UniParc]FASTAAdd to basket
Also known as: Maaab2

The sequence of this isoform differs from the canonical sequence as follows:
     1-229: Missing.
     547-561: Missing.

Show »
Length:684
Mass (Da):74,240
Checksum:i2BA7C3218D9B40F3
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EJU7K7EJU7_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
135Annotation score:
K7ESE9K7ESE9_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
699Annotation score:
K7EJH7K7EJH7_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
178Annotation score:
K7EKB0K7EKB0_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
145Annotation score:
K7EIE2K7EIE2_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
183Annotation score:
K7EML5K7EML5_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
184Annotation score:
K7EIR7K7EIR7_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
36Annotation score:
K7EQA6K7EQA6_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
53Annotation score:
K7ELH0K7ELH0_HUMAN
Breast carcinoma-amplified sequence...
BCAS3
56Annotation score:

Sequence cautioni

The sequence AAF70324 differs from that shown. Reason: Frameshift at position 693.Curated
The sequence AAL99634 differs from that shown. Reason: Erroneous initiation.Curated
Isoform 5 : The sequence AK225757 differs from that shown. Reason: Frameshift at position 895.Curated
The sequence BAA90966 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAB14078 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
Isoform 5 : The sequence CAD54076 differs from that shown. Reason: Frameshift at position 894.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29E → K in AAL99632 (PubMed:12378525).Curated1
Sequence conflicti127R → K in AAL99632 (PubMed:12378525).Curated1
Sequence conflicti199 – 200VV → II in BAB15156 (PubMed:14702039).Curated2
Sequence conflicti533K → E in BAB14078 (PubMed:14702039).Curated1
Sequence conflicti533K → E in BAB14380 (PubMed:14702039).Curated1
Sequence conflicti640D → G in BAB15156 (PubMed:14702039).Curated1
Sequence conflicti666Q → R in BAB14078 (PubMed:14702039).Curated1
Sequence conflicti806S → P in BAB15156 (PubMed:14702039).Curated1
Isoform 5 (identifier: Q9H6U6-7)
Sequence conflicti891G → R in CAD54076 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06509387N → S4 PublicationsCorresponds to variant dbSNP:rs2643103Ensembl.1
Natural variantiVAR_057583106I → V. Corresponds to variant dbSNP:rs34712615Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0401121 – 229Missing in isoform 6. 2 PublicationsAdd BLAST229
Alternative sequenceiVSP_007858547 – 561Missing in isoform 1, isoform 3, isoform 5 and isoform 6. 4 PublicationsAdd BLAST15
Alternative sequenceiVSP_007860879T → TDTALDVAVKTFPPERHVAV KCF in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_040113880 – 928ELQRE…PTGFP → DTALDVAVKTFPPERHVAVK CFGKKKGKKKQCQQPSVREQ PNSNKACVRDGGRTSARGKH RDSE in isoform 5. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF361219 mRNA Translation: AAL99632.1
AF361221 mRNA Translation: AAL99634.1 Different initiation.
AK000135 mRNA Translation: BAA90966.1 Different initiation.
AK022526 mRNA Translation: BAB14078.1 Different initiation.
AK023054 mRNA Translation: BAB14380.1
AK025510 mRNA Translation: BAB15156.1
AK225757 mRNA No translation available.
AC005746 Genomic DNA No translation available.
AC005856 Genomic DNA No translation available.
AC005884 Genomic DNA No translation available.
AC015876 Genomic DNA No translation available.
AC079005 Genomic DNA No translation available.
AC110602 Genomic DNA No translation available.
CH471179 Genomic DNA Translation: EAW51414.1
BC001250 mRNA Translation: AAH01250.2
BC117275 mRNA Translation: AAI17276.1
BC143386 mRNA Translation: AAI43387.1
AJ511332 mRNA Translation: CAD54076.1 Frameshift.
AJ518105 mRNA Translation: CAD57723.1
AL831895 mRNA Translation: CAD38568.1
AF260268 mRNA Translation: AAF70324.1 Frameshift.
CCDSiCCDS11626.1 [Q9H6U6-2]
CCDS45749.1 [Q9H6U6-1]
CCDS82176.1 [Q9H6U6-8]
CCDS82177.1 [Q9H6U6-7]
CCDS82178.1 [Q9H6U6-3]
RefSeqiNP_001092902.1, NM_001099432.1 [Q9H6U6-1]
NP_001307399.1, NM_001320470.1 [Q9H6U6-7]
NP_060149.3, NM_017679.3 [Q9H6U6-2]
UniGeneiHs.655028

Genome annotation databases

EnsembliENST00000390652; ENSP00000375067; ENSG00000141376 [Q9H6U6-1]
ENST00000407086; ENSP00000385323; ENSG00000141376 [Q9H6U6-2]
ENST00000408905; ENSP00000386173; ENSG00000141376 [Q9H6U6-3]
ENST00000588462; ENSP00000468592; ENSG00000141376 [Q9H6U6-8]
ENST00000588874; ENSP00000464825; ENSG00000141376 [Q9H6U6-6]
ENST00000589222; ENSP00000466078; ENSG00000141376 [Q9H6U6-7]
GeneIDi54828
KEGGihsa:54828
UCSCiuc002iyu.5 human [Q9H6U6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF361219 mRNA Translation: AAL99632.1
AF361221 mRNA Translation: AAL99634.1 Different initiation.
AK000135 mRNA Translation: BAA90966.1 Different initiation.
AK022526 mRNA Translation: BAB14078.1 Different initiation.
AK023054 mRNA Translation: BAB14380.1
AK025510 mRNA Translation: BAB15156.1
AK225757 mRNA No translation available.
AC005746 Genomic DNA No translation available.
AC005856 Genomic DNA No translation available.
AC005884 Genomic DNA No translation available.
AC015876 Genomic DNA No translation available.
AC079005 Genomic DNA No translation available.
AC110602 Genomic DNA No translation available.
CH471179 Genomic DNA Translation: EAW51414.1
BC001250 mRNA Translation: AAH01250.2
BC117275 mRNA Translation: AAI17276.1
BC143386 mRNA Translation: AAI43387.1
AJ511332 mRNA Translation: CAD54076.1 Frameshift.
AJ518105 mRNA Translation: CAD57723.1
AL831895 mRNA Translation: CAD38568.1
AF260268 mRNA Translation: AAF70324.1 Frameshift.
CCDSiCCDS11626.1 [Q9H6U6-2]
CCDS45749.1 [Q9H6U6-1]
CCDS82176.1 [Q9H6U6-8]
CCDS82177.1 [Q9H6U6-7]
CCDS82178.1 [Q9H6U6-3]
RefSeqiNP_001092902.1, NM_001099432.1 [Q9H6U6-1]
NP_001307399.1, NM_001320470.1 [Q9H6U6-7]
NP_060149.3, NM_017679.3 [Q9H6U6-2]
UniGeneiHs.655028

3D structure databases

ProteinModelPortaliQ9H6U6
SMRiQ9H6U6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120182, 41 interactors
IntActiQ9H6U6, 29 interactors
MINTiQ9H6U6
STRINGi9606.ENSP00000375067

PTM databases

iPTMnetiQ9H6U6
PhosphoSitePlusiQ9H6U6

Polymorphism and mutation databases

BioMutaiBCAS3
DMDMi313104248

Proteomic databases

EPDiQ9H6U6
MaxQBiQ9H6U6
PaxDbiQ9H6U6
PeptideAtlasiQ9H6U6
PRIDEiQ9H6U6
ProteomicsDBi81034
81035 [Q9H6U6-2]
81036 [Q9H6U6-3]
81037 [Q9H6U6-6]
81038 [Q9H6U6-7]
81039 [Q9H6U6-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000390652; ENSP00000375067; ENSG00000141376 [Q9H6U6-1]
ENST00000407086; ENSP00000385323; ENSG00000141376 [Q9H6U6-2]
ENST00000408905; ENSP00000386173; ENSG00000141376 [Q9H6U6-3]
ENST00000588462; ENSP00000468592; ENSG00000141376 [Q9H6U6-8]
ENST00000588874; ENSP00000464825; ENSG00000141376 [Q9H6U6-6]
ENST00000589222; ENSP00000466078; ENSG00000141376 [Q9H6U6-7]
GeneIDi54828
KEGGihsa:54828
UCSCiuc002iyu.5 human [Q9H6U6-1]

Organism-specific databases

CTDi54828
DisGeNETi54828
EuPathDBiHostDB:ENSG00000141376.20
GeneCardsiBCAS3
H-InvDBiHIX0021877
HGNCiHGNC:14347 BCAS3
HPAiHPA052409
HPA057289
MIMi607470 gene
neXtProtiNX_Q9H6U6
OpenTargetsiENSG00000141376
PharmGKBiPA25286
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2109 Eukaryota
KOG4415 Eukaryota
ENOG410XSW7 LUCA
GeneTreeiENSGT00390000006454
HOVERGENiHBG050676
InParanoidiQ9H6U6
OMAiRNMEFHE
OrthoDBiEOG091G038X
PhylomeDBiQ9H6U6
TreeFamiTF105856

Enzyme and pathway databases

SignaLinkiQ9H6U6

Miscellaneous databases

ChiTaRSiBCAS3 human
GeneWikiiBCAS3
GenomeRNAii54828
PROiPR:Q9H6U6
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000141376 Expressed in 174 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ9H6U6 baseline and differential
GenevisibleiQ9H6U6 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR022175 BCAS3
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF12490 BCAS3, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiBCAS3_HUMAN
AccessioniPrimary (citable) accession number: Q9H6U6
Secondary accession number(s): Q17RM0
, Q6KF21, Q8IXI6, Q8NDR8, Q8TDL9, Q8TDM1, Q8WY55, Q9BVF0, Q9H957, Q9H9Y9, Q9NXP4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2003
Last sequence update: November 30, 2010
Last modified: November 7, 2018
This is version 154 of the entry and version 3 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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