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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
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Genomic context

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See BCAS1 in Genome Data Viewer
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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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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