ATP5PF - ATP synthase peripheral stalk subunit F6 Gene

Homo sapiens

Also known as F6; CF6; ATP5; ATPM; ATP5A; ATP5J

Gene ID: 522 | Gene type: protein coding

About ATP5PF

Cytogenetic location: 21q21.3 Genomic coordinates (GRCh38): 21:25,724,500-25,735,653 (from NCBI)

This gene has 8 transcripts (splice variants) and 293 orthologues. Ubiquitous expression in heart (RPKM 71.0), kidney (RPKM 49.2) and 25 other tissues.

Summary

Mitochondrial ATP Synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo complex has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex. The F6 subunit is required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has 1 or more pseudogenes. [provided by RefSeq, Feb 2016]

ATP5PF Products(7)

mRNA	Protein	Name
NM_001003696.2	NP_001003696.1	ATP synthase-coupling factor 6, mitochondrial isoform a precursor
NM_001003697.2	NP_001003697.1	ATP synthase-coupling factor 6, mitochondrial isoform a precursor
NM_001003701.2	NP_001003701.1	ATP synthase-coupling factor 6, mitochondrial isoform b precursor
NM_001003703.2	NP_001003703.1	ATP synthase-coupling factor 6, mitochondrial isoform a precursor
NM_001320266.2	NP_001307195.1	ATP synthase-coupling factor 6, mitochondrial isoform a precursor
NM_001320267.2	NP_001307196.1	ATP synthase-coupling factor 6, mitochondrial isoform a precursor
NM_001685.5	NP_001676.2	ATP synthase-coupling factor 6, mitochondrial isoform a precursor

ATP5PF Protein Structure

ATP-synt_F6

0
100
108 a.a.

Protein Preferred Names

Protein Names

ATP synthase-coupling factor 6, mitochondrial

ATP synthase subunit h

Related Diseases

Diseases

Alias

Cataract 21, Multiple Types

Cataract 21 Multiple Types	CTRCT21
Cca4	Cataract 21, Multiple Types, With Or Without Microcornea
Cataract, Pulverulent, Juvenile-Onset	Congenital Cataract Cerulean Type 4
Cataract, Congenital, Cerulean Type, 4	Cataract 21 Multiple Types With Or Without Microcornea
Cataract, Pulverulent Or Cerulean, With Or Without Microcornea	Cataract Pulverulent Juvenile-Onset
Congenital Cataract Blue Dot Type 4	Cataract, Type 21, Multiple Types

Oculoglandular Tularemia

Dystonia 12

DYT12	Rdp
Generalized Dystonia	Dystonia-12
Rapid-Onset Dystonia-Parkinsonism	Familial Dystonia
Dystonia Musculorum Deformans	Dystonic Disorders
Idiopathic Familial Dystonia	Dystonia-Parkinsonism, Rapid-Onset
Fragments Of Torsion Dystonia	Dyt-Atp1a3
Rapid-Onset Dystonia Parkinsonism	Rodp
Dystonia, Type 12	Dystonia 3, Torsion, X-Linked
Idiopathic Non-Familial Dystonia	Symptomatic Torsion Dystonia
Dystonia Disorders

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

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-RS01212	ATP5PF Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ATP5PF	VGNC	VGNC:26304
Rattus norvegicus	ATP5PF	RGD	RGD:621376
Felis catus	ATP5PF	VGNC	VGNC:68647
Mus musculus	ATP5PF	MGD	MGI:107777
Canis familiaris	ATP5PF	VGNC	VGNC:38265
Macaca mulatta	ATP5PF	VGNC	VGNC:81288

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