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ATP13A2 ATPase type 13A2 [ Homo sapiens (human) ]

Gene ID: 23400, updated on 15-Feb-2015
Official Symbol
ATP13A2provided by HGNC
Official Full Name
ATPase type 13A2provided by HGNC
Primary source
HGNC:HGNC:30213
See related
Ensembl:ENSG00000159363; HPRD:13677; MIM:610513; Vega:OTTHUMG00000002293
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
CLN12; KRPPD; PARK9; HSA9947
Summary
This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]
Orthologs
See ATP13A2 in MapViewer
Location:
1p36
Exon count:
29
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (16985958..17011972, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17312453..17338467, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ciliary rootlet coiled-coil, rootletin Neighboring gene microfibrillar-associated protein 2 Neighboring gene succinate dehydrogenase complex, subunit B, iron sulfur (Ip) Neighboring gene peptidyl arginine deiminase, type II

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Parkinson disease 9
MedGen: C1847640 OMIM: 606693 GeneReviews: Parkinson Disease Overview
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ26510

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity NAS
Non-traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cation transport IEA
Inferred from Electronic Annotation
more info
 
cellular response to manganese ion TAS
Traceable Author Statement
more info
PubMed 
metabolic process IEA
Inferred from Electronic Annotation
more info
 
metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
probable cation-transporting ATPase 13A2
Names
probable cation-transporting ATPase 13A2
NP_001135445.1
NP_001135446.1
NP_071372.1

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_009054.1 RefSeqGene

    Range
    4957..30971
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001141973.2NP_001135445.1  probable cation-transporting ATPase 13A2 isoform 2

    See proteins identical to NP_001135445.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant 1, resulting in a shorter protein (isoform 2). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 2.
    Source sequence(s)
    AK290210, AL354615, BC030267, BC034575, HY024349
    Consensus CDS
    CCDS44073.1
    UniProtKB/TrEMBL
    Q8N4D4
    UniProtKB/Swiss-Prot
    Q9NQ11
    Related
    ENSP00000413307, OTTHUMP00000221711, ENST00000452699, OTTHUMT00000368161
    Conserved Domains (5) summary
    COG4087
    Location:845894
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:258490
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39164
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:623660
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391112
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  2. NM_001141974.2NP_001135446.1  probable cation-transporting ATPase 13A2 isoform 3

    See proteins identical to NP_001135446.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 5' coding region, and lacks two alternate exons in the 3' coding region which results in a frameshift, compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1. The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 3.
    Source sequence(s)
    AK075310, BC030267, BC034575, HY024349
    Consensus CDS
    CCDS44072.1
    UniProtKB/TrEMBL
    Q8N4D4
    UniProtKB/TrEMBL
    Q8NBS1
    UniProtKB/Swiss-Prot
    Q9NQ11
    Related
    ENSP00000341115, OTTHUMP00000002400, ENST00000341676, OTTHUMT00000006618
    Conserved Domains (5) summary
    COG4087
    Location:806855
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:258490
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39164
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:623660
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391034
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  3. NM_022089.3NP_071372.1  probable cation-transporting ATPase 13A2 isoform 1

    See proteins identical to NP_071372.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). The transcript contains an upstream ORF that could encode a 103aa protein and may modulate translation from the downstream ORF encoding isoform 1.
    Source sequence(s)
    AL354615, BC030267, HY024349
    Consensus CDS
    CCDS175.1
    UniProtKB/Swiss-Prot
    Q9NQ11
    Related
    ENSP00000327214, OTTHUMP00000002399, ENST00000326735, OTTHUMT00000006617
    Conserved Domains (5) summary
    COG4087
    Location:850899
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:263495
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39169
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:628665
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391117
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38 Primary Assembly

    Range
    16985958..17011972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006710512.1XP_006710575.1  

    Conserved Domains (5) summary
    COG4087
    Location:844893
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:257489
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39163
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:622659
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391072
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  2. XM_006710513.1XP_006710576.1  

    Conserved Domains (5) summary
    COG4087
    Location:836885
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:249481
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39164
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:614651
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391064
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  3. XM_005245811.1XP_005245868.1  

    Conserved Domains (5) summary
    COG4087
    Location:845894
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:258490
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39164
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:623660
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391073
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  4. XM_005245810.1XP_005245867.1  

    Conserved Domains (5) summary
    COG4087
    Location:849898
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:262494
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39168
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:627664
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391077
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  5. XM_005245812.1XP_005245869.1  

    Conserved Domains (5) summary
    COG4087
    Location:841890
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:254486
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39169
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:619656
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391069
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  6. XM_005245813.1XP_005245870.1  

    Conserved Domains (4) summary
    COG4087
    Location:830879
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:263495
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39169
    P5-ATPase; P5-type ATPase cation transporter
    TIGR01657
    Location:391058
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  7. XM_005245815.1XP_005245872.1  

    Conserved Domains (5) summary
    COG4087
    Location:811860
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:263495
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39169
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:628665
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391039
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)
  8. XM_005245809.1XP_005245866.1  

    Conserved Domains (5) summary
    COG4087
    Location:850899
    COG4087; Soluble P-type ATPase [General function prediction only]
    pfam00122
    Location:263495
    E1-E2_ATPase; E1-E2 ATPase
    pfam12409
    Location:39169
    P5-ATPase; P5-type ATPase cation transporter
    pfam13246
    Location:628665
    Hydrolase_like2; Putative hydrolase of sodium-potassium ATPase alpha subunit
    TIGR01657
    Location:391078
    Probable_cation-transporting_ATPase; P-type ATPase of unknown pump specificity (type V)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    17420791..17446761
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 Alternate HuRef

    Range
    15556532..15582505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)