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BLCAP BLCAP apoptosis inducing factor [ Homo sapiens (human) ]

Gene ID: 10904, updated on 27-Nov-2024

Summary

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Official Symbol
BLCAPprovided by HGNC
Official Full Name
BLCAP apoptosis inducing factorprovided by HGNC
Primary source
HGNC:HGNC:1055
See related
Ensembl:ENSG00000166619 MIM:613110; AllianceGenome:HGNC:1055
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
BC10
Summary
This gene encodes a protein that reduces cell growth by stimulating apoptosis. Alternative splicing and the use of alternative promoters result in multiple transcript variants encoding the same protein. This gene is imprinted in brain where different transcript variants are expressed from each parental allele. Transcript variants initiating from the upstream promoter are expressed preferentially from the maternal allele, while transcript variants initiating downstream of the interspersed NNAT gene (GeneID:4826) are expressed from the paternal allele. Transcripts at this locus may also undergo A to I editing, resulting in amino acid changes at three positions in the N-terminus of the protein. [provided by RefSeq, Nov 2015]
Expression
Ubiquitous expression in brain (RPKM 29.8), placenta (RPKM 23.5) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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See BLCAP in Genome Data Viewer
Location:
20q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (37517417..37527876, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (39241512..39251972, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36145819..36156278, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17837 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35975052-35975552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:35987177-35987747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17841 Neighboring gene SRC proto-oncogene, non-receptor tyrosine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12891 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36019051-36019552 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36022575-36023431 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36023432-36024287 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36024288-36025144 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36025145-36026001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:36026002-36026858 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36035731-36036650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36040408-36040917 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36040918-36041426 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36049663-36050276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36054060-36054560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36054561-36055061 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36070038-36070538 Neighboring gene ribosomal protein L7a pseudogene 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36114871-36115516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36115517-36116161 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36146997-36147860 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36147861-36148724 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:36154646-36155364 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr20:36156082-36156799 Neighboring gene neuronatin Neighboring gene peptidylprolyl isomerase A pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36196423-36196923 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17848 Neighboring gene long intergenic non-protein coding RNA 1746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:36219641-36220140

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. bc10: a novel human bladder cancer-associated protein with a conserved genomic structure downregulated in invasive cancer. Ratliff TL. J Urol, 2002 Aug. PMID 12136878
  2. Functional analysis of bladder cancer-related protein gene: a putative cervical cancer tumor suppressor gene in cervical carcinoma. Zuo Z, et al. Tumour Biol, 2006. PMID 16675915
  3. Bladder cancer-associated protein, a potential prognostic biomarker in human bladder cancer. Moreira JM, et al. Mol Cell Proteomics, 2010 Jan. PMID 19783793, Free PMC Article
  4. Human BLCAP transcript: new editing events in normal and cancerous tissues. Galeano F, et al. Int J Cancer, 2010 Jul 1. PMID 19908260, Free PMC Article
  5. A-to-I RNA editing of BLCAP lost the inhibition to STAT3 activation in cervical cancer. Chen W, et al. Oncotarget, 2017 Jun 13. PMID 28455960, Free PMC Article

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MALAT1 regulates BLCAP mRNA expression through binding to miR-339-5p.
    Title: Long non-coding RNA MALAT1 regulates BLCAP mRNA expression through binding to miR-339-5p and promotes poor prognosis in breast cancer.
  2. Upregulated miR-9-3p has a positive role in human MTC progression by regulating the growth and apoptosis of cancer cells via targeting BLCAP.
    Title: Upregulated miR-9-3p Promotes Cell Growth and Inhibits Apoptosis in Medullary Thyroid Carcinoma by Targeting BLCAP.
  3. Our findings reveal that A-to-I RNA editing events alter the genetically coded amino acid in BLCAP YXXQ motif, which drive the progression of cervical carcinogenesis through regulating STAT3 signaling pathway.
    Title: A-to-I RNA editing of BLCAP lost the inhibition to STAT3 activation in cervical cancer.
  4. data indicates that Blcap is a novel Stat3 interaction partner and suggests a role for Blcap in the Stat3-mediated progression of precancerous lesions to invasive tumors of the bladder
    Title: Identification of BLCAP as a novel STAT3 interaction partner in bladder cancer.
  5. the functional association of BLCAP and Rb1 might play important roles in proliferation and apoptosis of HeLa cells.
    Title: BLCAP arrests G₁/S checkpoint and induces apoptosis through downregulation of pRb1 in HeLa cells.
  6. Data show that the RNA-edited bladder cancer associated protein (BLCAP) gene may stably promote cell proliferation.
    Title: RNA over-editing of BLCAP contributes to hepatocarcinogenesis identified by whole-genome and transcriptome sequencing.
  7. Immunoexpression analysis and prognostic value of BLCAP in breast cancer
    Title: Immunoexpression analysis and prognostic value of BLCAP in breast cancer.
  8. observed a general decrease in BLCAP-editing level in astrocytomas, bladder cancer and colorectal cancer when compared with the related normal tissues
    Title: Human BLCAP transcript: new editing events in normal and cancerous tissues.
  9. Data show that loss of BLCAP expression is associated with tumor progression.
    Title: Bladder cancer-associated protein, a potential prognostic biomarker in human bladder cancer.
  10. Blcap is imprinted in mouse and human brain, but not in other mouse tissues.
    Title: Transcript- and tissue-specific imprinting of a tumour suppressor gene.
Submit: New GeneRIF Correction See all GeneRIFs (12)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic nuclear changes IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
apoptosis inducing factor BLCAP
Names
bladder cancer associated protein
bladder cancer related protein (10kD)

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_001167820.2 → NP_001161292.1  apoptosis inducing factor BLCAP

    See identical proteins and their annotated locations for NP_001161292.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6, also known as V1c) differs in the 5' UTR compared to variant 1. This variant may be expressed predominantly from the maternal allele in brain (PMID:18836209). Variants 1 to 7 all encode the same protein.
    Source sequence(s)
    AA780553, BC071704, DA632207
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    A2A2K7, O60629, P62952, Q9D3B5
    UniProtKB/TrEMBL
    A2A2K8
    Related
    ENSP00000397172.2, ENST00000414542.6
    Conserved Domains (1) summary
    pfam06726
    Location:1 → 65
    BC10; Bladder cancer-related protein BC10

  2. NM_001167821.2 → NP_001161293.1  apoptosis inducing factor BLCAP

    See identical proteins and their annotated locations for NP_001161293.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1 to 7 all encode the same protein.
    Source sequence(s)
    AA780553, BC071704, DA198124
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    A2A2K7, O60629, P62952, Q9D3B5
    UniProtKB/TrEMBL
    A2A2K8
    Related
    ENSP00000380326.1, ENST00000397137.5
    Conserved Domains (1) summary
    pfam06726
    Location:1 → 65
    BC10; Bladder cancer-related protein BC10

  3. NM_001167822.3 → NP_001161294.1  apoptosis inducing factor BLCAP

    See identical proteins and their annotated locations for NP_001161294.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4, also known as V1b) differs in the 5' UTR compared to variant 1. This variant may be expressed predominantly from the maternal allele in brain (PMID:18836209). Variants 1 to 7 all encode the same protein.
    Source sequence(s)
    AA780553, BC071704, DA198124, DA943717
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    A2A2K7, O60629, P62952, Q9D3B5
    UniProtKB/TrEMBL
    A2A2K8
    Related
    ENSP00000380324.1, ENST00000397135.1
    Conserved Domains (1) summary
    pfam06726
    Location:1 → 65
    BC10; Bladder cancer-related protein BC10

  4. NM_001167823.2 → NP_001161295.1  apoptosis inducing factor BLCAP

    See identical proteins and their annotated locations for NP_001161295.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1 to 7 all encode the same protein.
    Source sequence(s)
    AA780553, BC071704, BP293276
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    A2A2K7, O60629, P62952, Q9D3B5
    UniProtKB/TrEMBL
    A2A2K8
    Related
    ENSP00000380320.1, ENST00000397131.1
    Conserved Domains (1) summary
    pfam06726
    Location:1 → 65
    BC10; Bladder cancer-related protein BC10

  5. NM_001317074.2 → NP_001304003.1  apoptosis inducing factor BLCAP

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2, also known as V2a) differs in the 5' UTR compared to variant 1. This variant may be expressed predominantly from the paternal allele in brain (PMID:18836209). Variants 1 to 7 all encode the same protein.
    Source sequence(s)
    AA780553, AL109614, BC071704, DA770824
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    A2A2K7, O60629, P62952, Q9D3B5
    UniProtKB/TrEMBL
    A2A2K8
    Related
    ENSP00000414973.1, ENST00000432507.1
    Conserved Domains (1) summary
    pfam06726
    Location:1 → 65
    BC10; Bladder cancer-related protein BC10

  6. NM_001317075.2 → NP_001304004.1  apoptosis inducing factor BLCAP

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1 to 7 all encode the same protein.
    Source sequence(s)
    AA780553, BC071704, DA283758
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    A2A2K7, O60629, P62952, Q9D3B5
    UniProtKB/TrEMBL
    A2A2K8
    Related
    ENSP00000380323.1, ENST00000397134.1
    Conserved Domains (1) summary
    pfam06726
    Location:1 → 65
    BC10; Bladder cancer-related protein BC10

  7. NM_006698.4 → NP_006689.1  apoptosis inducing factor BLCAP

    See identical proteins and their annotated locations for NP_006689.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as V1a) is the predominant transcript. This variant may be expressed predominantly from the maternal allele in brain (PMID:18836209). Variants 1 to 7 all encode the same protein.
    Source sequence(s)
    AA780553, BC047692, BC071704, DA262965
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    A2A2K7, O60629, P62952, Q9D3B5
    UniProtKB/TrEMBL
    A2A2K8
    Related
    ENSP00000362637.2, ENST00000373537.7
    Conserved Domains (1) summary
    pfam06726
    Location:1 → 65
    BC10; Bladder cancer-related protein BC10

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_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    37517417..37527876 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    39241512..39251972 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P62952.1 GenPept UniProtKB/Swiss-Prot:P62952

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