BCAR1 BCAR1 scaffold protein, Cas family member [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCAR1provided by HGNC
Official Full Name: BCAR1 scaffold protein, Cas family memberprovided by HGNC
Primary source: HGNC:HGNC:971
See related: Ensembl:ENSG00000050820 MIM:602941; AllianceGenome:HGNC:971
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAS; CAS1; CASS1; CRKAS; P130Cas
Summary: The protein encoded by this gene is a member of the Crk-associated substrate (CAS) family of scaffold proteins, characterized by the presence of multiple protein-protein interaction domains and many serine and tyrosine phosphorylation sites. The encoded protein contains a Src-homology 3 (SH3) domain, a proline-rich domain, a substrate domain which contains 15 repeat of the YxxP consensus phosphorylation motif for Src family kinases, a serine-rich domain, and a bipartite Src-binding domain, which can bind both SH2 and SH3 domains. This adaptor protein functions in multiple cellular pathways, including in cell motility, apoptosis and cell cycle control. Dysregulation of this gene can have a wide range of effects, affecting different pathways, including cardiac development, vascular smooth muscle cells, liver and kidney function, endothelial migration, and cancer. [provided by RefSeq, Sep 2017]
Expression: Broad expression in spleen (RPKM 6.5), kidney (RPKM 6.3) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 16q23.1

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (75228181..75268007, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (81274930..81314755, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (75262079..75301905, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BTG1 inactivation drives lymphomagenesis and promotes lymphoma dissemination through activation of BCAR1.
Title: BTG1 inactivation drives lymphomagenesis and promotes lymphoma dissemination through activation of BCAR1.
The interaction of CFLAR with p130Cas promotes cell migration.
Title: The interaction of CFLAR with p130Cas promotes cell migration.
Docking Protein p130Cas Regulates Acinar to Ductal Metaplasia During Pancreatic Adenocarcinoma Development and Pancreatitis.
Title: Docking Protein p130Cas Regulates Acinar to Ductal Metaplasia During Pancreatic Adenocarcinoma Development and Pancreatitis.
BCAR1 plays critical roles in the formation and immunoevasion of invasive circulating tumor cells in lung adenocarcinoma.
Title: BCAR1 plays critical roles in the formation and immunoevasion of invasive circulating tumor cells in lung adenocarcinoma.
Comprehensive immunohistochemical analysis of RET, BCAR1, and BCAR3 expression in patients with Luminal A and B breast cancer subtypes.
Title: Comprehensive immunohistochemical analysis of RET, BCAR1, and BCAR3 expression in patients with Luminal A and B breast cancer subtypes.
Targeting p130Cas- and microtubule-dependent MYC regulation sensitizes pancreatic cancer to ERK MAPK inhibition.
Title: Targeting p130Cas- and microtubule-dependent MYC regulation sensitizes pancreatic cancer to ERK MAPK inhibition.
p130Cas Is Correlated with EREG Expression and a Prognostic Factor Depending on Colorectal Cancer Stage and Localization Reducing FOLFIRI Efficacy.
Title: p130Cas Is Correlated with EREG Expression and a Prognostic Factor Depending on Colorectal Cancer Stage and Localization Reducing FOLFIRI Efficacy.
High Expression of BCAR1 by Circulating Tumor Cells and Tumor Tissues Is Predictive of a Poor Prognosis of Early-Stage Lung Adenocarcinoma Potentially Due to Regulation of Epithelial-Mesenchymal Transition.
Title: High Expression of BCAR1 by Circulating Tumor Cells and Tumor Tissues Is Predictive of a Poor Prognosis of Early-Stage Lung Adenocarcinoma Potentially Due to Regulation of Epithelial-Mesenchymal Transition.
A Cas-BCAR3 co-regulatory circuit controls lamellipodia dynamics.
Title: A Cas-BCAR3 co-regulatory circuit controls lamellipodia dynamics.
BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A.
Title: BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A.

Submit: New GeneRIF Correction See all GeneRIFs (100)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed
Multidimensional prognostic risk assessment identifies association between IL12B variation and surgery in Crohn's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of breast cancer anti-estrogen resistance 1 (BCAR1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat enhances the tyrosine phosphorylation of p130Cas, an effect linked to Tat-induced angiogenesis and AIDS-related Kaposi's sarcoma	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54085 (e-PCR)
- UniSTS:109322

BCAR1_714 (e-PCR)
- UniSTS:277024

BCAR1_V85 (e-PCR)
- UniSTS:277024

SHGC-152387 (e-PCR)
- UniSTS:177497

RH123913 (e-PCR)
- UniSTS:136288

D16S3051 (e-PCR)
- UniSTS:8876

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH3 domain binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in G protein-coupled receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in T cell receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in actin filament organization	IDA Inferred from Direct Assay more info	PubMed
involved_in antigen receptor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in cell adhesion	IEA Inferred from Electronic Annotation more info
involved_in cell chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell division	NAS Non-traceable Author Statement more info	PubMed
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in cell surface receptor protein tyrosine kinase signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to hepatocyte growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endothelin receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in hepatocyte growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in integrin-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in neurotrophin TRK receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in platelet-derived growth factor receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of endothelial cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of cell growth	TAS Traceable Author Statement more info	PubMed
involved_in vascular endothelial growth factor receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in actin cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	IDA Inferred from Direct Assay more info	PubMed
located_in focal adhesion	ISS Inferred from Sequence or Structural Similarity more info
located_in lamellipodium	IEA Inferred from Electronic Annotation more info
colocalizes_with plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
colocalizes_with plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in ruffle	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: breast cancer anti-estrogen resistance protein 1

Names: BCAR1, Cas family scaffold protein; BCAR1, Cas family scaffolding protein; Cas scaffolding protein family member 1; Crk-associated substrate p130Cas

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001170714.3 → NP_001164185.1 breast cancer anti-estrogen resistance protein 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AB040024, AC009078, AK293808, AK295809, BQ016861, BU730553

Consensus CDS

CCDS54040.1

UniProtKB/TrEMBL

Q6P5Z4

Related

ENSP00000391669.3, ENST00000418647.7

Conserved Domains (3) summary

cd11552
Location:500 → 656

Serine_rich_BCAR1; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Breast Cancer Anti-estrogen Resistance 1; a protein interaction module

cd12001
Location:51 → 117

SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1

pfam12026
Location:701 → 910

DUF3513; Domain of unknown function (DUF3513)
NM_001170715.3 → NP_001164186.1 breast cancer anti-estrogen resistance protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' sequence, as compared to variant 1. The resulting isoform (2) is shorter and has a different N-terminus, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AK124815, BQ016861, BU730553

Consensus CDS

CCDS54043.1

UniProtKB/TrEMBL

Q6P5Z4

Related

ENSP00000377074.2, ENST00000393422.6

Conserved Domains (3) summary

cd11552
Location:472 → 628

Serine_rich_BCAR1; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein, Breast Cancer Anti-estrogen Resistance 1; a protein interaction module

cd12001
Location:23 → 89

SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1

pfam12026
Location:673 → 882

DUF3513; Domain of unknown function (DUF3513)
NM_001170716.3 → NP_001164187.1 breast cancer anti-estrogen resistance protein 1 isoform 3

See identical proteins and their annotated locations for NP_001164187.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) has an alternate 5' sequence, as compared to variant 1. The resulting isoform (3) is shorter and has a different N-terminus, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AK295809, BQ016861, BU730553, DC317704, DC317947

Consensus CDS

CCDS54042.1

UniProtKB/TrEMBL

Q6P5Z4

Related

ENSP00000392708.3, ENST00000420641.7

Conserved Domains (3) summary

cd12001
Location:23 → 89

SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1

pfam12026
Location:673 → 882

DUF3513; Domain of unknown function (DUF3513)

cl07433
Location:472 → 628

Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
NM_001170717.3 → NP_001164188.1 breast cancer anti-estrogen resistance protein 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) has an alternate 5' sequence and an alternate splice site in the CDS, as compared to variant 1. The resulting isoform (4) is shorter, and has a different N-terminus and an additional segment in the middle region, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AY545071, BQ016861, BU730553, DA418642

Consensus CDS

CCDS54038.1

UniProtKB/TrEMBL

Q6P5Z4

Related

ENSP00000377072.6, ENST00000393420.10

Conserved Domains (3) summary

cd12001
Location:4 → 71

SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1

pfam12026
Location:673 → 882

DUF3513; Domain of unknown function (DUF3513)

cl07433
Location:472 → 628

Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
NM_001170718.3 → NP_001164189.1 breast cancer anti-estrogen resistance protein 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an exon in the 5' region, resulting in an alternate AUG start codon, as compared to variant 1. The resulting isoform (5) is shorter and has a different N-terminus, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AK027608, AK295809, BQ016861, BU730553

Consensus CDS

CCDS54041.1

UniProtKB/TrEMBL

Q6P5Z4

Related

ENSP00000443841.2, ENST00000538440.6

Conserved Domains (3) summary

cd12001
Location:5 → 71

SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1

pfam12026
Location:655 → 864

DUF3513; Domain of unknown function (DUF3513)

cl07433
Location:454 → 610

Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
NM_001170719.3 → NP_001164190.1 breast cancer anti-estrogen resistance protein 1 isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) has an alternate 5' sequence, as compared to variant 1. The resulting isoform (7) is shorter and has a different N-terminus, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AK295809, BQ016861, BU730553, DC310094

Consensus CDS

CCDS54037.1

UniProtKB/TrEMBL

Q6P5Z4

Related

ENSP00000440415.2, ENST00000542031.6

Conserved Domains (3) summary

cd12001
Location:3 → 69

SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1

pfam12026
Location:653 → 862

DUF3513; Domain of unknown function (DUF3513)

cl07433
Location:452 → 608

Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
NM_001170720.3 → NP_001164191.1 breast cancer anti-estrogen resistance protein 1 isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8) has an alternate internal sequence, as compared to variant 1. The resulting isoform (8) is shorter and has a different N-terminus, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AK302617, BQ016861, BU730553, DA184411

Consensus CDS

CCDS54039.1

UniProtKB/TrEMBL

Q8NC57

Related

ENSP00000440370.2, ENST00000535626.6

Conserved Domains (3) summary

pfam12026
Location:507 → 716

DUF3513; Domain of unknown function (DUF3513)

cl07433
Location:306 → 462

Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module

cl17036
Location:5 → 64

SH3; Src Homology 3 domain superfamily
NM_001170721.3 → NP_001164192.1 breast cancer anti-estrogen resistance protein 1 isoform 9

See identical proteins and their annotated locations for NP_001164192.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) has an alternate 5' sequence, as compared to variant 1. The resulting isoform (9) is much shorter at the N-terminus, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AK124844, BQ016861, BU730553

UniProtKB/TrEMBL

B3KWE2, Q8NC57

Conserved Domains (2) summary

pfam12026
Location:445 → 654

DUF3513; Domain of unknown function (DUF3513)

cl07433
Location:244 → 400

Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
NM_014567.5 → NP_055382.2 breast cancer anti-estrogen resistance protein 1 isoform 6

See identical proteins and their annotated locations for NP_055382.2

Status: REVIEWED

Description

Transcript Variant: This variant (6) has an alternate 5' sequence, as compared to variant 1. The resulting isoform (6) is shorter and has a different N-terminus, as compared to isoform 1.

Source sequence(s)

AB040024, AC009078, AK295809, AK314722, BQ016861, BU730553

Consensus CDS

CCDS10915.1

UniProtKB/Swiss-Prot

B3KWD7, B4DEV4, B4DGB5, B4DIW5, B7Z7X7, E9PCL5, E9PCV2, F5GXA2, F5GXV6, F5H7Z0, F8WA69, P56945, Q6QEF7

UniProtKB/TrEMBL

Q6P5Z4

Related

ENSP00000162330.5, ENST00000162330.10

Conserved Domains (3) summary

cd12001
Location:4 → 71

SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1

pfam12026
Location:655 → 864

DUF3513; Domain of unknown function (DUF3513)

cl07433
Location:454 → 610

Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module