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

Gene ID: 8537, updated on 22-Aug-2020

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
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

Genomic context

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See BCAS1 in Genome Data Viewer
Location:
20q13.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (53943541..54070594, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (52560079..52687304, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene HNF4 motif-containing MPRA enhancer 186 Neighboring gene SUMO1 pseudogene 1 Neighboring gene microRNA 4756 Neighboring gene cytochrome P450 family 24 subfamily A member 1 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

See all (19) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

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

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available

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
myelination IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
myelination ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
extracellular exosome HDA PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
  

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
    B2RCQ5, G3XAF7, Q05CL3
    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
    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

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

    Status: REVIEWED

    Source sequence(s)
    AC004501, AC005220, AL354801

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

    Status: REVIEWED

    Source sequence(s)
    AC004501, AC005220, AL354801
    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
    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
    O75363
    Related
    ENSP00000379290.3, ENST00000395961.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_017028111.2 → XP_016883600.1  breast carcinoma-amplified sequence 1 isoform X9

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

  3. XM_005260591.3 → XP_005260648.1  breast carcinoma-amplified sequence 1 isoform X4

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

  4. XM_005260589.3 → XP_005260646.1  breast carcinoma-amplified sequence 1 isoform X2

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

  5. XM_005260594.3 → XP_005260651.1  breast carcinoma-amplified sequence 1 isoform X8

  6. XM_011529091.3 → XP_011527393.1  breast carcinoma-amplified sequence 1 isoform X5

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

  7. XM_005260590.3 → XP_005260647.1  breast carcinoma-amplified sequence 1 isoform X3

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

  8. XM_011529090.3 → XP_011527392.1  breast carcinoma-amplified sequence 1 isoform X1

    See identical proteins and their annotated locations for XP_011527392.1

    Conserved Domains (1) summary
    cl26511
    Location:213 → 595
    Neuromodulin_N; Gap junction protein N-terminal region
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75363.2 GenPept UniProtKB/Swiss-Prot:O75363

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