Format

Send to:

Choose Destination

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

Gene ID: 10904, updated on 17-Jun-2019

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
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

Genomic context

See BLCAP in Genome Data Viewer
Location:
20q11.23
Exon count:
7
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (37517417..37527931, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (36145819..36156333, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene SRC proto-oncogene, non-receptor tyrosine kinase Neighboring gene ribosomal protein L7a pseudogene 14 Neighboring gene neuronatin Neighboring gene peptidylprolyl isomerase A pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 1746

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
apoptotic nuclear changes IDA
Inferred from Direct Assay
more info
PubMed 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
bladder cancer-associated protein
Names
bladder cancer associated protein
bladder cancer related protein (10kD)

NCBI Reference Sequences (RefSeq)

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_001167820.1NP_001161292.1  bladder cancer-associated protein

    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, DA262965, DA632207
    Consensus CDS
    CCDS13295.1
    UniProtKB/Swiss-Prot
    P62952
    Related
    ENSP00000397172.2, ENST00000414542.6
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10
  2. NM_001167821.1NP_001161293.1  bladder cancer-associated protein

    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
    P62952
    Related
    ENSP00000380326.1, ENST00000397137.5
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10
  3. NM_001167822.2NP_001161294.1  bladder cancer-associated protein

    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
    P62952
    Related
    ENSP00000380324.1, ENST00000397135.1
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10
  4. NM_001167823.2NP_001161295.1  bladder cancer-associated protein

    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
    P62952
    Related
    ENSP00000380320.1, ENST00000397131.1
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10
  5. NM_001317074.1NP_001304003.1  bladder cancer-associated protein

    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
    P62952
    Related
    ENSP00000414973.1, ENST00000432507.1
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10
  6. NM_001317075.1NP_001304004.1  bladder cancer-associated protein

    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
    P62952
    Related
    ENSP00000380323.1, ENST00000397134.1
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10
  7. NM_006698.4NP_006689.1  bladder cancer-associated protein

    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
    P62952
    Related
    ENSP00000362637.2, ENST00000373537.7
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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
    37517417..37527931 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017027599.1XP_016883088.1  bladder cancer-associated protein isoform X1

    UniProtKB/Swiss-Prot
    P62952
    Conserved Domains (1) summary
    pfam06726
    Location:165
    BC10; Bladder cancer-related protein BC10
Support Center