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  2. ATP5F1D - ATP synthase F1 subunit delta Gene

ATP5F1D - ATP synthase F1 subunit delta Gene

Homo sapiens

Also known as ATP5D; MC5DN5

Gene ID: 513 | Gene type: protein coding

About ATP5F1D

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:1,241,751-1,244,825 (from NCBI)

This gene has 9 transcripts (splice variants), 199 orthologues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 30.9), colon (RPKM 30.8) and 25 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 consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

ATP5F1D Products(2)

mRNA Protein Name
NM_001001975.2 NP_001001975.1 ATP synthase subunit delta, mitochondrial precursor
NM_001687.5 NP_001678.1 ATP synthase subunit delta, mitochondrial precursor

ATP5F1D Protein Structure

ATP-synt_DE_N

ATP-synt_DE_N: ATP synthase, Delta/Epsilon chain, beta-sandwich domain (38 - 119)

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

ATP synthase subunit delta, mitochondrial

ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit

Recombinant ATP5F1D Proteins

Cat. No. Product Name Accession Purity
HY-P72097 ATP5D Protein, Human (His-SUMO) P30049 (A23-E168) ≥95%
HY-P72098 ATP5D Protein, Human (His) P30049 (A23-E168) ≥95%

Related Diseases

Diseases Alias
Mitochondrial Complex V Deficiency, Nuclear Type 5

Mitochondrial Complex V Deficiency

MC5DN5

Mitochondrial Complex V Deficiency, Atp5f1d Type

Mitochondrial Complex V Deficiency

Mitochondrial Complex 5 Deficiency Nuclear Type 5

Complex 5 Mitochondrial Respiratory Chain Deficiency

Atp Synthase Deficiency

Mitochondrial Complex V Deficiency, Nuclear Type 5

Complex V Deficiency

Isolated Atp Synthase Deficiency

Isolated Mitochondrial Respiratory Chain Complex V Deficiency

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

3-Methylglutaconic Aciduria

3-Methyl Glutaconic Aciduria

Ciliary Dyskinesia, Primary, 30

Primary Ciliary Dyskinesia 30

CILD30

Ciliary Dyskinesia, Primary, 30, With Or Without Situs Inversus

Primary Ciliary Dyskinesia 30 Without Situs Inversus

Primary Ciliary Dyskinesia 30 With Or Without Situs Inversus

Dyskinesia, Ciliary, Primary, Type 30

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

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
Felis catus ATP5F1D VGNC VGNC:102003
Rattus norvegicus ATP5F1D RGD RGD:621372
Macaca mulatta ATP5F1D VGNC VGNC:108475
Canis familiaris ATP5F1D VGNC VGNC:38264
Mus musculus ATP5F1D MGD MGI:1913293
Bos taurus ATP5F1D VGNC VGNC:26302