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

    Gene ID: 9564, updated on 9-Dec-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See BCAR1 in Genome Data Viewer
    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_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7710 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75242541-75243096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75243097-75243652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11125 Neighboring gene chymotrypsinogen B2 Neighboring gene uncharacterized LOC100506281 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75267182-75267807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7711 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75270483-75271324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75272167-75273008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75274691-75275532 Neighboring gene chymotrypsinogen B1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75275533-75276374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11126 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75281985-75282648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7712 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75285734-75286274 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75286815-75287355 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75287356-75287895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75287896-75288436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75288976-75289516 Neighboring gene uncharacterized LOC105371344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75290057-75290597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75289517-75290056 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:75294897-75295696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75297293-75298090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75298091-75298888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7715 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7718 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7717 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75305973-75306511 Neighboring gene RNA, U6 small nuclear 758, pseudogene Neighboring gene MED14-independent group 3 enhancer GRCh37_chr16:75339050-75340249 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:75341536-75342036 Neighboring gene craniofacial development protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11127 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11128 Neighboring gene CFDP1 intron CAGE-defined high expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11129 Neighboring gene small nucleolar RNA SNORA76

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    HIV-1 interactions

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12176, FLJ45059

    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

    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)

    NEW Try the new Transcript table

    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)

    1. NM_001170714.3NP_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:500656
      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:51117
      SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1
      pfam12026
      Location:701910
      DUF3513; Domain of unknown function (DUF3513)
    2. NM_001170715.3NP_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:472628
      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:2389
      SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1
      pfam12026
      Location:673882
      DUF3513; Domain of unknown function (DUF3513)
    3. NM_001170716.3NP_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:2389
      SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1
      pfam12026
      Location:673882
      DUF3513; Domain of unknown function (DUF3513)
      cl07433
      Location:472628
      Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
    4. NM_001170717.3NP_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:471
      SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1
      pfam12026
      Location:673882
      DUF3513; Domain of unknown function (DUF3513)
      cl07433
      Location:472628
      Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
    5. NM_001170718.3NP_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:571
      SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1
      pfam12026
      Location:655864
      DUF3513; Domain of unknown function (DUF3513)
      cl07433
      Location:454610
      Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
    6. NM_001170719.3NP_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:369
      SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1
      pfam12026
      Location:653862
      DUF3513; Domain of unknown function (DUF3513)
      cl07433
      Location:452608
      Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
    7. NM_001170720.3NP_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:507716
      DUF3513; Domain of unknown function (DUF3513)
      cl07433
      Location:306462
      Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
      cl17036
      Location:564
      SH3; Src Homology 3 domain superfamily
    8. NM_001170721.3NP_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:445654
      DUF3513; Domain of unknown function (DUF3513)
      cl07433
      Location:244400
      Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
    9. NM_014567.5NP_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:471
      SH3_BCAR1; Src homology 3 domain of the CAS (Crk-Associated Substrate) scaffolding protein family member, Breast Cancer Anti-estrogen Resistance 1
      pfam12026
      Location:655864
      DUF3513; Domain of unknown function (DUF3513)
      cl07433
      Location:454610
      Serine_rich_CAS; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      75228181..75268007 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654723.1 Reference GRCh38.p14 PATCHES

      Range
      58397..78373 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      81274930..81314755 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)