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    BCAS1 brain enriched myelin associated protein 1 [ Homo sapiens (human) ]

    Gene ID: 8537, updated on 3-Apr-2024

    Summary

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    Official Symbol
    BCAS1provided by HGNC
    Official Full Name
    brain enriched myelin associated protein 1provided by HGNC
    Primary source
    HGNC:HGNC:974
    See related
    Ensembl:ENSG00000064787 MIM:602968; AllianceGenome:HGNC:974
    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
    AIBC1; NABC1; PMES-2
    Summary
    This gene resides in a region at 20q13 which is amplified in a variety of tumor types and associated with more aggressive tumor phenotypes. Among the genes identified from this region, it was found to be highly expressed in three amplified breast cancer cell lines and in one breast tumor without amplification at 20q13.2. However, this gene is not in the common region of maximal amplification and its expression was not detected in the breast cancer cell line MCF7, in which this region is highly amplified. Although not consistently expressed, this gene is a candidate oncogene. [provided by RefSeq, Apr 2016]
    Expression
    Biased expression in stomach (RPKM 58.5), colon (RPKM 41.1) and 7 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    20q13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (53943541..54070594, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (55717036..55844502, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (52560080..52687133, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904935 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:52491437-52492636 Neighboring gene MPRA-validated peak4276 silencer Neighboring gene SUMO1 pseudogene 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:52522628-52523827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:52551551-52552052 Neighboring gene Sharpr-MPRA regulatory region 3819 Neighboring gene uncharacterized LOC124904936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52685852-52686726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13053 Neighboring gene NANOG hESC enhancer GRCh37_chr20:52697269-52697770 Neighboring gene microRNA 4756 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:52740093-52740898 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:52755491-52756690 Neighboring gene cytochrome P450 family 24 subfamily A member 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:52790155-52790748 Neighboring gene uncharacterized LOC105372675

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. NABC1 (BCAS1): alternative splicing and downregulation in colorectal tumors. Correa RG, et al. Genomics, 2000 May 1. PMID 10857754
    2. Independent amplification and frequent co-amplification of three nonsyntenic regions on the long arm of chromosome 20 in human breast cancer. Tanner MM, et al. Cancer Res, 1996 Aug 1. PMID 8758909
    3. Characterization of the novel amplified in breast cancer-1 (NABC1) gene product. Beardsley DI, et al. Exp Cell Res, 2003 Nov 1. PMID 14567997
    4. Mice lacking BCAS1, a novel myelin-associated protein, display hypomyelination, schizophrenia-like abnormal behaviors, and upregulation of inflammatory genes in the brain. Ishimoto T, et al. Glia, 2017 May. PMID 28230289
    5. BCAS1 expression defines a population of early myelinating oligodendrocytes in multiple sclerosis lesions. Fard MK, et al. Sci Transl Med, 2017 Dec 6. PMID 29212715, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Analysis of candidate genes for prostate cancer.
    Submit: New GeneRIF Correction

    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
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of breast carcinoma amplified sequence 1 (BCAS1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells 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

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in myelination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in myelination ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    breast carcinoma-amplified sequence 1
    Names
    amplified and overexpressed in breast cancer
    breast carcinoma amplified sequence 1
    novel amplified in breast cancer 1
    protein having mRNA enriched in synaptosomes 2

    NCBI Reference Sequences (RefSeq)

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    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_001316361.3 → NP_001303290.1  breast carcinoma-amplified sequence 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two consecutive alternate in-frame exons compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC005220, AK315220, BC024044, HY323863
      Consensus CDS
      CCDS82631.1
      UniProtKB/TrEMBL
      A0AVG7, G3XAF7
      Related
      ENSP00000360490.2, ENST00000371435.6

    2. NM_001323347.2 → NP_001310276.1  breast carcinoma-amplified sequence 1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005220, DC358921, HY323863
      Consensus CDS
      CCDS82631.1
      UniProtKB/TrEMBL
      A0AVG7, G3XAF7
      Conserved Domains (1) summary
      PHA03321
      Location:87 → 319
      PHA03321; tegument protein VP11/12; Provisional

    3. NM_001366295.2 → NP_001353224.1  breast carcinoma-amplified sequence 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC004501, AC005220, AL354801
      UniProtKB/TrEMBL
      A0AVG7

    4. NM_001366296.2 → NP_001353225.1  breast carcinoma-amplified sequence 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC004501, AC005220, AL354801
      UniProtKB/TrEMBL
      A0AVG7

    5. NM_001366297.2 → NP_001353226.1  breast carcinoma-amplified sequence 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC004501, AC005220, AL354801
      UniProtKB/TrEMBL
      A0AVG7
      Conserved Domains (1) summary
      cl27083
      Location:265 → 439
      Menin; Scaffolding protein menin encoded by the MEN1 gene

    6. NM_001366298.2 → NP_001353227.1  breast carcinoma-amplified sequence 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC004501, AC005220, AL354801
      Consensus CDS
      CCDS93061.1
      UniProtKB/TrEMBL
      A0A8I5KUN3, A0AVG7
      Related
      ENSP00000508731.1, ENST00000688948.1
      Conserved Domains (1) summary
      cl26511
      Location:213 → 595
      Neuromodulin_N; Gap junction protein N-terminal region

    7. NM_003657.4 → NP_003648.2  breast carcinoma-amplified sequence 1 isoform 1

      See identical proteins and their annotated locations for NP_003648.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC004501, AC005220, AL354801, HY323863
      Consensus CDS
      CCDS13444.1
      UniProtKB/Swiss-Prot
      A0AVG5, O75363, Q68CZ3
      UniProtKB/TrEMBL
      A0AVG7
      Related
      ENSP00000379290.3, ENST00000395961.7

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      53943541..54070594 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017028111.3 → XP_016883600.1  breast carcinoma-amplified sequence 1 isoform X9

      UniProtKB/TrEMBL
      A0AVG7

    2. XM_047440568.1 → XP_047296524.1  breast carcinoma-amplified sequence 1 isoform X11

    3. XM_005260595.4 → XP_005260652.1  breast carcinoma-amplified sequence 1 isoform X10

      UniProtKB/TrEMBL
      A0A8I5KRZ2, A0A8I5KSK1
      Related
      ENSP00000509740.1, ENST00000686565.1

    4. XM_005260591.4 → XP_005260648.1  breast carcinoma-amplified sequence 1 isoform X4

      UniProtKB/TrEMBL
      A0AVG7
      Conserved Domains (2) summary
      PTZ00121
      Location:213 → 559
      PTZ00121; MAEBL; Provisional
      PHA03321
      Location:87 → 313
      PHA03321; tegument protein VP11/12; Provisional

    5. XM_005260589.4 → XP_005260646.1  breast carcinoma-amplified sequence 1 isoform X2

      UniProtKB/TrEMBL
      A0AVG7
      Conserved Domains (2) summary
      PTZ00121
      Location:213 → 581
      PTZ00121; MAEBL; Provisional
      PHA03321
      Location:87 → 313
      PHA03321; tegument protein VP11/12; Provisional

    6. XM_005260594.4 → XP_005260651.1  breast carcinoma-amplified sequence 1 isoform X8

      UniProtKB/TrEMBL
      A0A8I5KRZ2

    7. XM_011529091.4 → XP_011527393.1  breast carcinoma-amplified sequence 1 isoform X6

      UniProtKB/TrEMBL
      A0A8I5KRZ2
      Conserved Domains (2) summary
      PTZ00121
      Location:213 → 539
      PTZ00121; MAEBL; Provisional
      PHA03321
      Location:87 → 313
      PHA03321; tegument protein VP11/12; Provisional

    8. XM_005260590.4 → XP_005260647.1  breast carcinoma-amplified sequence 1 isoform X3

      UniProtKB/TrEMBL
      A0AVG7
      Conserved Domains (2) summary
      PTZ00121
      Location:213 → 573
      PTZ00121; MAEBL; Provisional
      PHA03321
      Location:87 → 313
      PHA03321; tegument protein VP11/12; Provisional

    9. XM_047440569.1 → XP_047296525.1  breast carcinoma-amplified sequence 1 isoform X12

    10. XM_047440567.1 → XP_047296523.1  breast carcinoma-amplified sequence 1 isoform X7

    11. XM_047440566.1 → XP_047296522.1  breast carcinoma-amplified sequence 1 isoform X5

      UniProtKB/Swiss-Prot
      A0AVG5, O75363, Q68CZ3

    12. XM_011529090.4 → XP_011527392.1  breast carcinoma-amplified sequence 1 isoform X1

      See identical proteins and their annotated locations for XP_011527392.1

      UniProtKB/TrEMBL
      A0A8I5KUN3, A0AVG7
      Conserved Domains (1) summary
      cl26511
      Location:213 → 595
      Neuromodulin_N; Gap junction protein N-terminal region

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      55717036..55844502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324172.1 → XP_054180147.1  breast carcinoma-amplified sequence 1 isoform X9

    2. XM_054324174.1 → XP_054180149.1  breast carcinoma-amplified sequence 1 isoform X11

    3. XM_054324173.1 → XP_054180148.1  breast carcinoma-amplified sequence 1 isoform X10

    4. XM_054324167.1 → XP_054180142.1  breast carcinoma-amplified sequence 1 isoform X4

    5. XM_054324165.1 → XP_054180140.1  breast carcinoma-amplified sequence 1 isoform X2

    6. XM_054324171.1 → XP_054180146.1  breast carcinoma-amplified sequence 1 isoform X8

    7. XM_054324169.1 → XP_054180144.1  breast carcinoma-amplified sequence 1 isoform X6

    8. XM_054324166.1 → XP_054180141.1  breast carcinoma-amplified sequence 1 isoform X3

    9. XM_054324175.1 → XP_054180150.1  breast carcinoma-amplified sequence 1 isoform X12

    10. XM_054324170.1 → XP_054180145.1  breast carcinoma-amplified sequence 1 isoform X7

    11. XM_054324168.1 → XP_054180143.1  breast carcinoma-amplified sequence 1 isoform X5

    12. XM_054324164.1 → XP_054180139.1  breast carcinoma-amplified sequence 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75363.2 GenPept UniProtKB/Swiss-Prot:O75363

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