ATPAF1 - ATP synthase mitochondrial F1 complex assembly factor 1 Gene

Also Known as ATP11; ATP11p

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 64756

About ATPAF1

Cytogenetic location: 1p33 Genomic coordinates (GRCh38): 1:46,632,737-46,668,557 (from NCBI)

This gene has 12 transcripts (splice variants), 203 orthologues and is associated with 1 phenotype. Ubiquitous expression in heart (RPKM 65.7), adrenal (RPKM 34.6) and 25 other tissues.

Summary

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP Synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

ATPAF1 Products (5)

mRNA Protein Name
NM_001042546.2 NP_001036011.2 ATP synthase mitochondrial F1 complex assembly factor 1 isoform 2
NM_001243728.1 NP_001230657.1 ATP synthase mitochondrial F1 complex assembly factor 1 isoform 3
NM_001256418.1 NP_001243347.1 ATP synthase mitochondrial F1 complex assembly factor 1 isoform 4
NM_001394565.1 NP_001381494.1 ATP synthase mitochondrial F1 complex assembly factor 1 isoform 5
NM_022745.6 NP_073582.3 ATP synthase mitochondrial F1 complex assembly factor 1 isoform 1

ATPAF1 Protein Structure

ATP11

ATP11: ATP11 protein (71 - 196)

ATP11

ATP11: ATP11 protein (197 - 241)

  • 0
  • 100
  • 200
  • 260 a.a.
Protein Preferred Names Protein Names

ATP synthase mitochondrial F1 complex assembly factor 1

  • homolog of yeast ATP11

ATPAF1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Referencias
Intra
ATPAF1 Q5TC12 ATP5F1B Homo sapiens P06576
Y2H
11410595
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Isolated Atp Synthase Deficiency
  • Isolated Mitochondrial Respiratory Chain Complex V Deficiency

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
Bos taurus ATPAF1 VGNC VGNC:26332
Canis familiaris ATPAF1 VGNC VGNC:38290
Felis catus ATPAF1 VGNC VGNC:60030
Rattus norvegicus ATPAF1 RGD RGD:1305417
Macaca mulatta ATPAF1 VGNC VGNC:82082
Mus musculus ATPAF1 MGD MGI:2180560
Others ATPAF1 NCBI