ATP13A1 (ATPase 13A1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 57130
• Gene name: ATPase 13A1
• Gene symbol: ATP13A1
• Synonyms (NCBI Gene): ATP13A, CGI-152
• Chromosome: 19
• Chromosome location: 19p13.11

miRNA Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021008	hsa-miR-155-5p	Proteomics	18668040
MIRT024066	hsa-miR-1-3p	Proteomics	18668040
MIRT049441	hsa-miR-92a-3p	CLASH	23622248
MIRT040644	hsa-miR-92b-3p	CLASH	23622248
MIRT806639	hsa-miR-1225-5p	CLIP-seq
MIRT806640	hsa-miR-34a	CLIP-seq
MIRT806641	hsa-miR-34c-5p	CLIP-seq
MIRT806642	hsa-miR-449a	CLIP-seq
MIRT806643	hsa-miR-449b	CLIP-seq
MIRT806644	hsa-miR-541	CLIP-seq
MIRT806645	hsa-miR-654-5p	CLIP-seq
MIRT1938259	hsa-miR-3151	CLIP-seq
MIRT1938260	hsa-miR-4267	CLIP-seq
MIRT1938261	hsa-miR-4447	CLIP-seq
MIRT1938262	hsa-miR-4472	CLIP-seq
MIRT1938263	hsa-miR-4687-3p	CLIP-seq
MIRT1938264	hsa-miR-491-5p	CLIP-seq
MIRT1938265	hsa-miR-615-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0015031	Process	Protein transport	IEA
GO:0015410	Function	ABC-type manganese transporter activity	TAS
GO:0015662	Function	P-type ion transporter activity	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0071421	Process	Manganese ion transmembrane transport	IEA
GO:0098655	Process	Monoatomic cation transmembrane transport	IEA
GO:0140358	Function	P-type transmembrane transporter activity	IEA
GO:0140567	Function	Membrane protein dislocase activity	IBA
GO:0140567	Function	Membrane protein dislocase activity	IDA	32973005, 36264797
GO:0140567	Function	Membrane protein dislocase activity	IEA
GO:0140569	Process	Extraction of mislocalized protein from ER membrane	IBA
GO:0140569	Process	Extraction of mislocalized protein from ER membrane	IDA	32973005, 36264797

Other IDs

• MIM: 619118
• HGNC: 24215
• e!Ensembl: ENSG00000105726

Protein

• UniProt ID: Q9HD20
• Protein name: Endoplasmic reticulum transmembrane helix translocase (EC 7.4.2.-) (Endoplasmic reticulum P5A-ATPase)
• Protein function: Endoplasmic reticulum translocase required to remove mitochondrial transmembrane proteins mistargeted to the endoplasmic reticulum (PubMed:32973005, PubMed:36264797). Acts as a dislocase that mediates the ATP-dependent extraction of mislocalized
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00122	E1-E2_ATPase	295 → 511		Family
  PF00702	Hydrolase	527 → 778		Domain

• Sequence:

  MAAAAAVGNAVPCGARPCGVRPDGQPKPGPQPRALLAAGPALIANGDELVAAVWPYRRLA
  LLRRLTVLPFAGLLYPAWLGAAAAGCWGWGSSWVQIPEAALLVLATICLAHALTVLSGHW
  SVHAHCALTCTPEYDPSKATFVKVVPTPNNGSTELVALHRNEGEDGLEVLSFEFQKIKYS
  YDALEKKQFLPVAFPVGNAFSYYQSNRGFQEDSEIRAAEKKFGSNKAEMVVPDFSELFKE
  RATAPFFVFQVFCVGLWCLDEYWYYSVFTLSMLVAFEASLVQQQMRNMSEIRKMGNKPHM
  IQVYRSRKWRPIASDEIVPGDIVSIGRSPQENLVPCDVLLLRGRCIVDEAMLTGESVPQM
  KEPIEDLSPDRVLDLQADSRLHVIFGGTKVVQHIPPQKATTGLKPVDSGCVAYVLRTGFN
  TSQGKLLRTILFGVKRVTANNLETFIFILFLLVFAIAAAAYVWIEGTKDPSRNRYKLFLE
  CTLILTSVVPPELPIELSLAVNTSLIALAKLYMYCTEPFRIPFAGKVEVCCFDKTGTLTS
  DSLVVRGVAGLRDGKEVTPVSSIPVETHRALASCHSLMQLDDGTLVGDPLEKAMLTAVDW
  TLTKDEKVFPRSIKTQGLKIHQRFHFASALKRMSVLASYEKLGSTDLCYIAAVKGAPETL
  HSMFSQCPPDYHHIHTEISREGARVLALGYKELGHLTHQQAREVKREALECSLKFVGFIV
  VSCPLKADSKAVIREIQNASHRVVMITGDNPLTACHVAQELHFIEKAHTLILQPPSEKGR
  QCEWRSIDGSIVLPLARGSPKALALEYALCLTGDGLAHLQATDPQQLLRLIPHVQVFARV
  APKQKEFVITSLKELGYVTLMCGDGTNDVGALKHADVGVALLANAPERVVERRRRPRDSP
  TLSNSGIRATSRTAKQRSGLPPSEEQPTSQRDRLSQVLRDLEDESTPIVKLGDASIAAPF
  TSKLSSIQCICHVIKQGRCTLVTTLQMFKILALNALILAYSQSVLYLEGVKFSDFQATLQ
  GLLLAGCFLFISRSKPLKTLSRERPLPNIFNLYTILTVMLQFFVHFLSLVYLYREAQARS
  PEKQEQFVDLYKEFEPSLVNSTVYIMAMAMQMATFAINYKGPPFMESLPENKPLVWSLAV
  SLLAIIGLLLGSSPDFNSQFGLVDIPVEFKLVIAQVLLLDFCLALLADRVLQFFLGTPKL
  KVPS

• Sequence length: 1204

Pathways

Reactome Pathway:

Ion transport by P-type ATPases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Lung cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Parkinson Disease	Parkinson disease	Pubtator	32348865	Associate	★☆☆☆☆ Found in Text Mining only
Vertical supranuclear gaze palsy	Supranuclear gaze palsy	BEFREE	23720239		★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for ATP13A1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to ATP13A1.