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ATG9A autophagy related 9A [ Homo sapiens (human) ]

Gene ID: 79065, updated on 17-Jun-2019

Summary

Official Symbol
ATG9Aprovided by HGNC
Official Full Name
autophagy related 9Aprovided by HGNC
Primary source
HGNC:HGNC:22408
See related
Ensembl:ENSG00000198925 MIM:612204
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
mATG9; APG9L1; MGD3208
Expression
Broad expression in testis (RPKM 45.2), brain (RPKM 19.5) and 25 other tissues See more
Orthologs

Genomic context

See ATG9A in Genome Data Viewer
Location:
2q35
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219219380..219229688, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220084102..220094387, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene zinc finger AN1-type containing 2B Neighboring gene ATP binding cassette subfamily B member 6 (Langereis blood group) Neighboring gene ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 Neighboring gene galactosidase beta 1 like Neighboring gene serine/threonine kinase 16 Neighboring gene tubulin alpha 4a

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?

Pathways from BioSystems

  • Autophagy - animal, organism-specific biosystem (from KEGG)
    Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - animal, conserved biosystem (from KEGG)
    Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
  • Autophagy - other, organism-specific biosystem (from KEGG)
    Autophagy - other, organism-specific biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...
  • Autophagy - other, conserved biosystem (from KEGG)
    Autophagy - other, conserved biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Macroautophagy, organism-specific biosystem (from REACTOME)
    Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
  • Mitophagy - animal, organism-specific biosystem (from KEGG)
    Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
  • Mitophagy - animal, conserved biosystem (from KEGG)
    Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ABCB6

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
late nucleophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein localization to phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein transport IEA
Inferred from Electronic Annotation
more info
 
response to nutrient levels IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT autophagosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome IDA
Inferred from Direct Assay
more info
PubMed 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
membrane HDA PubMed 
phagophore assembly site IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phagophore assembly site IDA
Inferred from Direct Assay
more info
PubMed 
recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
synaptic vesicle IEA
Inferred from Electronic Annotation
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
autophagy-related protein 9A
Names
APG9 autophagy 9-like 1
APG9-like 1
ATG9 autophagy related 9 homolog A
autophagy 9-like 1 protein

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_001077198.3NP_001070666.1  autophagy-related protein 9A

    See identical proteins and their annotated locations for NP_001070666.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) and variant 2 encode the same protein.
    Source sequence(s)
    BC065534, BK004018, DC347583
    Consensus CDS
    CCDS42820.1
    UniProtKB/Swiss-Prot
    Q7Z3C6
    UniProtKB/TrEMBL
    A0A024R438
    Related
    ENSP00000355173.4, ENST00000361242.9
    Conserved Domains (1) summary
    pfam04109
    Location:179528
    APG9; Autophagy protein Apg9
  2. NM_024085.5NP_076990.4  autophagy-related protein 9A

    See identical proteins and their annotated locations for NP_076990.4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an internal exon in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    BC065534, BX538192, DC347583
    Consensus CDS
    CCDS42820.1
    UniProtKB/Swiss-Prot
    Q7Z3C6
    UniProtKB/TrEMBL
    A0A024R438
    Related
    ENSP00000379983.2, ENST00000396761.6
    Conserved Domains (1) summary
    pfam04109
    Location:179528
    APG9; Autophagy protein Apg9

RNA

  1. NR_104255.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has an alternate splice site in the central region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    BC001206, BC065534, DC347583
    Related
    ENST00000409033.7

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    219219380..219229688 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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