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Aliases for APOPT1 Gene

Aliases for APOPT1 Gene

  • Apoptogenic 1, Mitochondrial 2 3 5
  • C14orf153 3 4
  • APOP1 3 4
  • Chromosome 14 Open Reading Frame 153 2
  • UPF0671 Protein C14orf153 3
  • Apoptogenic Protein 1 2
  • Apoptogenic 1 2
  • APOP-1 4
  • APOP 3

External Ids for APOPT1 Gene

Previous HGNC Symbols for APOPT1 Gene

  • C14orf153

Previous GeneCards Identifiers for APOPT1 Gene

  • GC14P104032

Summaries for APOPT1 Gene

Entrez Gene Summary for APOPT1 Gene

  • 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]

GeneCards Summary for APOPT1 Gene

APOPT1 (Apoptogenic 1, Mitochondrial) is a Protein Coding gene. Diseases associated with APOPT1 include non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy and mitochondrial complex iv deficiency.

UniProtKB/Swiss-Prot for APOPT1 Gene

  • Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOPT1 Gene

Genomics for APOPT1 Gene

Regulatory Elements for APOPT1 Gene

Promoters for APOPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around APOPT1 on UCSC Golden Path with GeneCards custom track

Genomic Location for APOPT1 Gene

Chromosome:
14
Start:
103,562,957 bp from pter
End:
103,607,523 bp from pter
Size:
44,567 bases
Orientation:
Plus strand

Genomic View for APOPT1 Gene

Genes around APOPT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOPT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOPT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOPT1 Gene

Proteins for APOPT1 Gene

  • Protein details for APOPT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96IL0-APOP1_HUMAN
    Recommended name:
    Apoptogenic protein 1, mitochondrial
    Protein Accession:
    Q96IL0
    Secondary Accessions:
    • Q53G28

    Protein attributes for APOPT1 Gene

    Size:
    206 amino acids
    Molecular mass:
    24153 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH07412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD96812.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAD96823.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for APOPT1 Gene

Proteomics data for APOPT1 Gene at MOPED

Post-translational modifications for APOPT1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for APOPT1 Gene

Domains & Families for APOPT1 Gene

Protein Domains for APOPT1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOPT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96IL0

UniProtKB/Swiss-Prot:

APOP1_HUMAN :
  • Belongs to the APOPT family.
Family:
  • Belongs to the APOPT family.
genes like me logo Genes that share domains with APOPT1: view

No data available for Gene Families for APOPT1 Gene

Function for APOPT1 Gene

Molecular function for APOPT1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade.
genes like me logo Genes that share phenotypes with APOPT1: view

Human Phenotype Ontology for APOPT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for APOPT1 Gene

Localization for APOPT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOPT1 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for APOPT1 Gene COMPARTMENTS Subcellular localization image for APOPT1 gene
Compartment Confidence
mitochondrion 4

No data available for Gene Ontology (GO) - Cellular Components for APOPT1 Gene

Pathways & Interactions for APOPT1 Gene

SuperPathways for APOPT1 Gene

No Data Available

Interacting Proteins for APOPT1 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000386485%0d%0a9606.ENSP00000358081%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000386485 for APOPT1 Gene via STRING

Gene Ontology (GO) - Biological Process for APOPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IEA,IBA --
GO:0090200 positive regulation of release of cytochrome c from mitochondria IEA,IBA --
GO:0097193 intrinsic apoptotic signaling pathway IEA,IBA --
genes like me logo Genes that share ontologies with APOPT1: view

No data available for Pathways by source and SIGNOR curated interactions for APOPT1 Gene

Drugs & Compounds for APOPT1 Gene

No Compound Related Data Available

Transcripts for APOPT1 Gene

Unigene Clusters for APOPT1 Gene

Apoptogenic 1, mitochondrial:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for APOPT1 Gene

No ASD Table

Relevant External Links for APOPT1 Gene

GeneLoc Exon Structure for
APOPT1
ECgene alternative splicing isoforms for
APOPT1

Expression for APOPT1 Gene

mRNA expression in normal human tissues for APOPT1 Gene

SOURCE GeneReport for Unigene cluster for APOPT1 Gene Hs.598441

genes like me logo Genes that share expression patterns with APOPT1: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for APOPT1 Gene

Orthologs for APOPT1 Gene

This gene was present in the common ancestor of animals.

Orthologs for APOPT1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia APOPT1 35
  • 89.01 (n)
  • 86.49 (a)
APOPT1 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APOPT1 35
  • 90.35 (n)
  • 88.16 (a)
APOPT1 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apopt1 35
  • 79.61 (n)
  • 76.06 (a)
Apopt1 16
Apopt1 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apopt1 35
  • 80.21 (n)
  • 78.12 (a)
oppossum
(Monodelphis domestica)
Mammalia APOPT1 36
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia APOPT1 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOPT1 35
  • 58.8 (n)
  • 59.03 (a)
APOPT1 36
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apopt1 35
  • 64.27 (n)
  • 64.05 (a)
zebrafish
(Danio rerio)
Actinopterygii apopt1 35
  • 60.36 (n)
  • 56.08 (a)
apopt1 36
  • 41 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14806 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y39B6A.34 36
  • 32 (a)
OneToOne
Species with no ortholog for APOPT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for APOPT1 Gene

ENSEMBL:
Gene Tree for APOPT1 (if available)
TreeFam:
Gene Tree for APOPT1 (if available)

Paralogs for APOPT1 Gene

genes like me logo Genes that share paralogs with APOPT1: view

No data available for Paralogs for APOPT1 Gene

Variants for APOPT1 Gene

Sequence variations from dbSNP and Humsavar for APOPT1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_023000 -
rs35960830 - 103,571,723(+) TGAAA(A/G)TGAAT nc-transcript-variant, reference, missense
rs2403197 -- 103,587,427(+) GTTTT(C/T)TTACC intron-variant
rs3742460 -- 103,572,113(+) cagag(A/C)cagac intron-variant
rs2896487 -- 103,587,513(+) CTTTT(C/T)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for APOPT1 Gene

Variant ID Type Subtype PubMed ID
nsv832883 CNV Loss 17160897
dgv1992n71 CNV Loss 21882294
nsv902300 CNV Loss 21882294
dgv1994n71 CNV Loss 21882294

Variation tolerance for APOPT1 Gene

Residual Variation Intolerance Score: 46.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.85; 74.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APOPT1 Gene

HapMap Linkage Disequilibrium report
APOPT1
Human Gene Mutation Database (HGMD)
APOPT1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOPT1 Gene

Disorders for APOPT1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for APOPT1 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
mitochondrial complex iv deficiency
  • cytochrome-c oxidase deficiency disease
human monocytic ehrlichiosis
  • ehrlichiosis chafeensis
ehrlichiosis
  • human ehrlichiosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for APOPT1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOPT1
genes like me logo Genes that share disorders with APOPT1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for APOPT1 Gene

Publications for APOPT1 Gene

  1. Akt activation prevents Apop-1-induced death of cells. (PMID: 18977203) Sun X. … Rakugi H. (Biochem. Biophys. Res. Commun. 2008) 2 3 67
  2. Apop-1, a novel protein inducing cyclophilin D-dependent but Bax/Bak-related channel-independent apoptosis. (PMID: 16782708) Yasuda O. … Ogihara T. (J. Biol. Chem. 2006) 2 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. Biological insights from 108 schizophrenia-associated genetic loci. (PMID: 25056061) (Nature 2014) 3
  5. Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. (PMID: 25175347) Melchionda L. … Zeviani M. (Am. J. Hum. Genet. 2014) 3

Products for APOPT1 Gene

Sources for APOPT1 Gene

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