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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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    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_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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    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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