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ATP9A ATPase phospholipid transporting 9A (putative) [ Homo sapiens (human) ]

Gene ID: 10079, updated on 22-Sep-2022

Summary

Official Symbol
ATP9Aprovided by HGNC
Official Full Name
ATPase phospholipid transporting 9A (putative)provided by HGNC
Primary source
HGNC:HGNC:13540
See related
Ensembl:ENSG00000054793 MIM:609126; AllianceGenome:HGNC:13540
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
ATPIIA
Summary
Enables protease binding activity. Involved in negative regulation of exosomal secretion; regulation of endocytic recycling; and regulation of retrograde transport, endosome to Golgi. Located in several cellular components, including endosome membrane; perinuclear region of cytoplasm; and trans-Golgi network membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 35.7), thyroid (RPKM 11.3) and 18 other tissues See more
Orthologs
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Genomic context

See ATP9A in Genome Data Viewer
Location:
20q13.2
Exon count:
28
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (51596514..51768390, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (53367254..53539838, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (50213053..50384929, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene nuclear factor of activated T cells 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:50063011-50064210 Neighboring gene microRNA 3194 Neighboring gene Sharpr-MPRA regulatory region 9373 Neighboring gene ribosomal protein L29 pseudogene Neighboring gene spalt like transcription factor 4 Neighboring gene long intergenic non-protein coding RNA 1429

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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0611

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables ATP hydrolysis activity IEA
Inferred from Electronic Annotation
more info
 
enables ATPase-coupled intramembrane lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables magnesium ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in early endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in endosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in recycling endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in recycling endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 
located_in trans-Golgi network membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
probable phospholipid-transporting ATPase IIA
Names
ATPase type IV, phospholipid-transporting (P-type),(putative)
ATPase, class II, type 9A
phospholipid-transporting ATPase IIA
NP_006036.1

NCBI Reference Sequences (RefSeq)

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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_006045.3NP_006036.1  probable phospholipid-transporting ATPase IIA

    See identical proteins and their annotated locations for NP_006036.1

    Status: VALIDATED

    Source sequence(s)
    AK299064, AL035684, BC110592, BF089115, HY147052
    Consensus CDS
    CCDS33489.1
    UniProtKB/Swiss-Prot
    O75110, Q9NQK7
    UniProtKB/TrEMBL
    B4DR18, Q2NLD0
    Related
    ENSP00000342481.5, ENST00000338821.6
    Conserved Domains (2) summary
    cd07541
    Location:55967
    P-type_ATPase_APLT_Neo1-like; Aminophospholipid translocases (APLTs), similar to Saccharomyces cerevisiae Neo1p and human putative APLT, ATP9B
    pfam13246
    Location:464571
    Cation_ATPase; Cation transport ATPase (P-type)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    51596514..51768390 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    53367254..53539838 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)