ATPAF1 - ATP synthase mitochondrial F1 complex assembly factor 1 Gene

Homo sapiens

Also known as ATP11; ATP11p

Gene ID: 64756 | Gene type: protein coding

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

0
100
200
260 a.a.

Protein Preferred Names

Protein Names

ATP synthase mitochondrial F1 complex assembly factor 1

homolog of yeast ATP11

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01243	ATPAF1 Human Pre-designed siRNA Set A		/	Unkown

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

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