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APOPT1 apoptogenic 1, mitochondrial [ Homo sapiens (human) ]

Gene ID: 84334, updated on 5-Aug-2018

Summary

Official Symbol
APOPT1provided by HGNC
Official Full Name
apoptogenic 1, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:20492
See related
Ensembl:ENSG00000256053 MIM:616003; Vega:OTTHUMG00000153929
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
APOP; APOP1; C14orf153
Summary
This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Expression
Ubiquitous expression in testis (RPKM 10.4), fat (RPKM 5.7) and 25 other tissues See more
Orthologs

Genomic context

See APOPT1 in Genome Data Viewer
Location:
14q32.33
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (103562957..103592187)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (104029299..104057236)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RNA, U7 small nuclear 160 pseudogene Neighboring gene BCL2 associated athanogene 5 Neighboring gene RNA, U4 small nuclear 68, pseudogene Neighboring gene uncharacterized LOC105370688 Neighboring gene kinesin light chain 1 Neighboring gene X-ray repair cross complementing 3

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 gp120 upregulates the expression of mitochondrial apoptogenic 1 (APOPT1, C14orf153) in human B cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: KLC1

Homology

Clone Names

  • MGC2562, FLJ55519

Gene Ontology Provided by GOA

Component Evidence Code Pubs
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
apoptogenic protein 1, mitochondrial
Names
UPF0671 protein C14orf153

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.

Genomic

  1. NG_041786.1 RefSeqGene

    Range
    5001..34231
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001302652.1NP_001289581.1  apoptogenic protein 1, mitochondrial isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has a shorter 3' UTR, and uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (2) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    BC007412, BU181154, CA443899, HY134136
    UniProtKB/Swiss-Prot
    Q96IL0
    Conserved Domains (1) summary
    pfam10231
    Location:66172
    DUF2315; uncharacterized conserved protein (DUF2315)
  2. NM_001302653.1NP_001289582.1  apoptogenic protein 1, mitochondrial isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has a shorter 3' UTR, and contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (3) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    BC007412, CA443899, CB993873, HY134136
    UniProtKB/Swiss-Prot
    Q96IL0
    Related
    ENSP00000451874.2, OTTHUMP00000246758, ENST00000556253.6, OTTHUMT00000414916
    Conserved Domains (1) summary
    pfam10231
    Location:66145
    DUF2315; uncharacterized conserved protein (DUF2315)
  3. NM_001302654.1NP_001289583.1  apoptogenic protein 1, mitochondrial isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks multiple 3' exons and contains an alternate 3' terminal exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) has a distinct, shorter C-terminus than isoform 1.
    Source sequence(s)
    BX119699, HY134136
    Conserved Domains (1) summary
    pfam10231
    Location:66141
    DUF2315; uncharacterized conserved protein (DUF2315)
  4. NM_032374.4NP_115750.2  apoptogenic protein 1, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_115750.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    BC007412, HY134136
    Consensus CDS
    CCDS9983.2
    UniProtKB/Swiss-Prot
    Q96IL0
    Related
    ENSP00000386485.2, OTTHUMP00000204662, ENST00000409074.6, OTTHUMT00000333060
    Conserved Domains (1) summary
    pfam10231
    Location:66192
    DUF2315; uncharacterized conserved protein (DUF2315)

RNA

  1. NR_126431.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon and has a shorter 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BF528062, BP204024, BP368962, CA443899, CB136383, HY134136
  2. NR_126432.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an internal exon and has a shorter 3' terminal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BP317962, BU956674, BX340258, CA443899, HY134136

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.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    103562957..103592187
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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