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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
  • Apoptogenic Protein 1, Mitochondrial 3
  • 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 Mitochondrial Complex Iv Deficiency and Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy.

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

Enhancers for APOPT1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F103560 1.1 ENCODE 32.9 -0.3 -285 3.6 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS KLF13 SP3 MXD4 APOPT1 KLC1 BAG5
GH14F103819 1.1 Ensembl ENCODE 10 +257.3 257334 1.4 INSM2 FEZF1 ZNF366 KLF7 ZNF362 OVOL3 ZEB2 TSHZ1 ZNF843 ZFP69B PPP1R13B XRCC3 ENSG00000202275 APOPT1 GC14M103799 LINC00637
GH14F103593 1.1 Ensembl ENCODE 9.1 +31.6 31573 2.5 HDGF SOX13 ELF3 CTCF KLF1 PKNOX1 TFAP4 ARID4B ZNF384 POLR2A KLC1 ENSG00000246451 XRCC3 ZFYVE21 APOPT1 ENSG00000269958 RNU4-68P LOC105370688
GH14F103576 1.1 Ensembl ENCODE 8.4 +13.9 13881 1.6 FEZF1 RAD21 ZNF2 YY1 ZFHX2 ZBTB48 ZNF366 PATZ1 ZNF600 PRDM10 KLC1 APOPT1 CKB RNU4-68P LOC105370688
GH14F103532 1.2 Ensembl ENCODE 5.7 -23.6 -23610 13.1 PKNOX1 MLX KLF17 SIN3A YBX1 RAD21 RARA GLIS2 ZNF366 SCRT2 MARK3 CKB KLC1 ENSG00000269958 APOPT1 TRMT61A RNU7-160P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APOPT1 on UCSC Golden Path with GeneCards custom track

Promoters for APOPT1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000652770 -57 3001 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS KLF13 SP3 MXD4

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

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

Inhibitory RNA Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOPT1 gene
Compartment Confidence
mitochondrion 3

Gene Ontology (GO) - Cellular Components for APOPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with APOPT1: view

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 Q96IL0-APOP1_HUMAN for APOPT1 Gene via STRING IID

Gene Ontology (GO) - Biological Process for APOPT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0034393 positive regulation of smooth muscle cell apoptotic process IEA --
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

Transcripts for APOPT1 Gene

Unigene Clusters for APOPT1 Gene

Apoptogenic 1, mitochondrial:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for APOPT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of APOPT1 Gene:

APOPT1

SOURCE GeneReport for Unigene cluster for APOPT1 Gene:

Hs.598441
genes like me logo Genes that share expression patterns with APOPT1: view

Primer 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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
dog
(Canis familiaris)
Mammalia APOPT1 34 35
  • 90.35 (n)
cow
(Bos Taurus)
Mammalia APOPT1 34 35
  • 89.01 (n)
rat
(Rattus norvegicus)
Mammalia Apopt1 34
  • 80.21 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia APOPT1 35
  • 80 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apopt1 34 16 35
  • 79.61 (n)
oppossum
(Monodelphis domestica)
Mammalia APOPT1 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOPT1 34 35
  • 58.8 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia apopt1 34
  • 64.27 (n)
zebrafish
(Danio rerio)
Actinopterygii apopt1 34 35
  • 60.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14806 35
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y39B6A.34 35
  • 32 (a)
OneToOne
Species where no ortholog for APOPT1 was found in the sources mined by GeneCards:
  • 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

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
rs587777784 Pathogenic 103,571,695(+) ACCTT(C/G/T)GACCT nc-transcript-variant, reference, missense, stop-gained
rs587777785 Pathogenic 103,571,622(+) TTAAA(A/G)GTCTC splice-acceptor-variant
rs587777786 Pathogenic 103,571,813(+) GACTT(C/T)TAGTA nc-transcript-variant, reference, missense
rs587777787 Pathogenic 103,574,116(+) AAGAA(-/GAA)TTTAT intron-variant, nc-transcript-variant, cds-indel
rs35960830 Likely benign 103,571,723(+) TGAAA(A/G)TGAAT nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv832883 CNV loss 17160897
nsv566022 CNV loss 21841781
nsv1131165 CNV deletion 24896259
nsv1122931 CNV deletion 24896259
nsv1054574 CNV loss 25217958
esv3635599 CNV gain 21293372

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

Human Gene Mutation Database (HGMD)
APOPT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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, GeneTests, Orphanet, DISEASES, and GeneCards

- 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 64
  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 64
  3. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PMID: 16712791) Wang A.G. … Kim N.S. (Biochem. Biophys. Res. Commun. 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for APOPT1 Gene

Sources for APOPT1 Gene

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