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  2. ATP13A3 - ATPase 13A3 Gene

ATP13A3 - ATPase 13A3 Gene

Homo sapiens

Also known as PPH5; AFURS1

Gene ID: 79572 | Gene type: protein coding

About ATP13A3

Cytogenetic location: 3q29 Genomic coordinates (GRCh38): 3:194,402,677-194,494,334 (from NCBI)

This gene has 15 transcripts (splice variants), 285 orthologues and 21 paralogues. Ubiquitous expression in thyroid (RPKM 24.7), appendix (RPKM 18.3) and 25 other tissues.

Summary

ATP13A3 is a member of the P-type ATPase family of proteins that transport a variety of cations across membranes. Other P-type ATPases include ATP7B (MIM 606882) and ATP7A (MIM 300011).[supplied by OMIM, Aug 2008]

ATP13A3 Products(3)

mRNA Protein Name
NM_001367549.1 NP_001354478.1 polyamine-transporting ATPase 13A3 isoform 2
NM_001374836.1 NP_001361765.1 polyamine-transporting ATPase 13A3 isoform 3
NM_024524.4 NP_078800.3 polyamine-transporting ATPase 13A3 isoform 1

ATP13A3 Protein Structure

P5-ATPase

P5-ATPase: P5-type ATPase cation transporter (13 - 142)

Cation_ATPase_N

Cation_ATPase_N: Cation transporter/ATPase, N-terminus (175 - 226)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (238 - 482)

HAD

HAD: haloacid dehalogenase-like hydrolase (495 - 892)

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  • 1226 a.a.
Protein Preferred Names Protein Names

polyamine-transporting ATPase 13A3

ATPase family homolog up-regulated in senescence cells 1

Related Diseases

Diseases Alias
Pulmonary Hypertension, Primary, 5

Pulmonary Hypertension, Primary, 5, Autosomal Recessive

PPH5

Hypertension, Pulmonary, Primary, Type 5

Pulmonary Hypertension, Primary, 1

Pulmonary Arterial Hypertension

Pah

Idiopathic Pulmonary Arterial Hypertension

Idiopathic Pulmonary Hypertension

Primary Pulmonary Hypertension

PPH1

Pulmonary Hypertension, Primary, Fenfluramine Or Dexfenfluramine-Associated

Pulmonary Hypertension, Familial Primary, 1, With Or Without Hht

Pph

Familial Primary Pulmonary Hypertension

Sporadic Primary Pulmonary Hypertension

Pht

Fpah

Familial Pulmonary Arterial Hypertension

Hereditary Pulmonary Arterial Hypertension

Heritable Pulmonary Arterial Hypertension

Ayerza Syndrome

Fpph

Ppht

Ipah

Primary Pulmonary Arterial Hypertension

Pulmonary Hypertension, Familial Primary

Hypertension, Pulmonary, Primary, Type 1

Ayerza'S Syndrome

Pah - [Pulmonary Arterial Hypertension]

Arrillaga Ayerza Syndrome

Pulmonary Venoocclusive Disease

Pulmonary Veno-Occlusive Disease

Obstructive Disease Of The Pulmonary Veins

Pvod

Isolated Pulmonary Venous Sclerosis

Venous Form Of Primary Pulmonary Hypertension

Pulmonary Venoocclusive Disease 1, Autosomal Dominant

Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension

Small Patella Syndrome

Ischiopatellar Dysplasia

Coxopodopatellar Syndrome

Scott-Taor Syndrome

Sps

Ischiocoxopodopatellar Syndrome

Patella Aplasia, Coxa Vara, And Tarsal Synostosis

ICPPS

Congenital Coxa Vara, Patella Aplasia And Tarsal Synostosis

Coxo-Podo-Patellar Syndrome

Patella Aplasia, Coxa Vara, Tarsal Synostosis

Coxopodipatellar Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Canis familiaris ATP13A3 VGNC VGNC:38243
Rattus norvegicus ATP13A3 RGD RGD:1590881
Felis catus ATP13A3 VGNC VGNC:60017
Mus musculus ATP13A3 MGD MGI:2685387
Macaca mulatta ATP13A3 VGNC VGNC:70117
Bos taurus ATP13A3 VGNC VGNC:26279