1. Gene
  2. ATP5MC1 - ATP synthase membrane subunit c locus 1 Gene

ATP5MC1 - ATP synthase membrane subunit c locus 1 Gene

Homo sapiens

Also known as ATP5A; ATP5G; ATP5G1

Gene ID: 516 | Gene type: protein coding

About ATP5MC1

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:48,892,787-48,895,871 (from NCBI)

This gene has 10 transcripts (splice variants), 71 orthologues and 2 paralogues. Ubiquitous expression in heart (RPKM 134.4), colon (RPKM 81.3) and 24 other tissues.

Summary

This gene encodes a subunit of mitochondrial ATP Synthase. Mitochondrial ATP Synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP Synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP Synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

ATP5MC1 Products(2)

mRNA Protein Name
NM_001002027.2 NP_001002027.1 ATP synthase F(0) complex subunit C1, mitochondrial precursor
NM_005175.3 NP_005166.1 ATP synthase F(0) complex subunit C1, mitochondrial precursor

ATP5MC1 Protein Structure

ATP-synt_C

ATP-synt_C: ATP synthase subunit C (68 - 135)

  • 0
  • 100
  • 136 a.a.
Protein Preferred Names Protein Names

ATP synthase F(0) complex subunit C1, mitochondrial

ATP synthase lipid-binding protein, mitochondrial

Related Diseases

Diseases Alias
Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

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
Mus musculus ATP5MC1 MGD MGI:107653
Rattus norvegicus ATP5MC1 RGD RGD:61933
Canis familiaris ATP5MC1 VGNC VGNC:51924