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

    Gene ID: 10904, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001167820.2NP_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:165
      BC10; Bladder cancer-related protein BC10
    2. NM_001167821.2NP_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:165
      BC10; Bladder cancer-related protein BC10
    3. NM_001167822.3NP_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:165
      BC10; Bladder cancer-related protein BC10
    4. NM_001167823.2NP_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:165
      BC10; Bladder cancer-related protein BC10
    5. NM_001317074.2NP_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:165
      BC10; Bladder cancer-related protein BC10
    6. NM_001317075.2NP_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:165
      BC10; Bladder cancer-related protein BC10
    7. NM_006698.4NP_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:165
      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)