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Aliases for ATP5MC1 Gene

Aliases for ATP5MC1 Gene

  • ATP Synthase Membrane Subunit C Locus 1 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit C1 (Subunit 9) 2 3 5
  • ATP5G1 3 4 5
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C1 (Subunit 9) 2 3
  • ATP Synthase Proton-Transporting Mitochondrial F(0) Complex Subunit C1 3 4
  • ATP Synthase Proteolipid P1 3 4
  • ATP Synthase Subunit 9 2 3
  • ATPase Subunit C 3 4
  • ATPase Protein 9 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C (Subunit 9), Isoform 1 2
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C1 (Subunit 9) 2
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C (Subunit 9) 3
  • ATP Synthase F(0) Complex Subunit C1, Mitochondrial 3
  • ATP Synthase Lipid-Binding Protein, Mitochondrial 3
  • Mitochondrial ATP Synthase, Subunit 9 3
  • Mitochondrial ATP Synthase, Subunit C 3
  • ATP Synthase Lipid-Binding Protein 4
  • ATPase Subunit 9 3
  • ATP5A 3
  • ATP5G 3

External Ids for ATP5MC1 Gene

Previous HGNC Symbols for ATP5MC1 Gene

  • ATP5G
  • ATP5G1

Summaries for ATP5MC1 Gene

Entrez Gene Summary for ATP5MC1 Gene

  • 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]

GeneCards Summary for ATP5MC1 Gene

ATP5MC1 (ATP Synthase Membrane Subunit C Locus 1) is a Protein Coding gene. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Metabolism. An important paralog of this gene is ATP5MC3.

UniProtKB/Swiss-Prot for ATP5MC1 Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.

Gene Wiki entry for ATP5MC1 Gene

Additional gene information for ATP5MC1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATP5MC1 Gene

Genomics for ATP5MC1 Gene

GeneHancer (GH) Regulatory Elements for ATP5MC1 Gene

Promoters and enhancers for ATP5MC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I048891 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 570.3 +0.7 660 4.2 CLOCK ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC ATP5MC1 LOC105371814 UBE2Z ENSG00000262837 SP2 ENSG00000266601 ENSG00000264701 FAM117A CDK5RAP3 TAC4
GH17I048906 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 17.7 +16.0 16045 4.4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 UBE2Z SUMO2P17 ENSG00000262837 ENSG00000266601 ATP5MC1 CALCOCO2 FAM117A ENSG00000264701 ENSG00000230532 SNF8
GH17I048840 Promoter/Enhancer 1.3 Ensembl ENCODE 29.4 -50.8 -50826 3.9 HDGF BMI1 BATF IRF4 RAD21 ZNF766 ATF7 ETV6 BCLAF1 IKZF2 ATP5MC1 TTLL6 PRAC1 PRAC2 HOXB13 LOC105371811 CALCOCO2 UBE2Z FAM117A GC17P048882
GH17I048869 Enhancer 1.2 Ensembl ENCODE 30.6 -21.1 -21059 5.1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 SP5 NFYC MXD4 ATP5MC1 TTLL6 CALCOCO2 UBE2Z ENSG00000230532 HOXB13 PRAC1 PRAC2 SUMO2P17 LOC105371811
GH17I048943 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 15.9 +51.8 51771 2.1 HDGF SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF766 SNF8 GC17P048947 UBE2Z ATP5MC1 SPOP NXPH3 ENSG00000263412 CALCOCO2 ENSG00000230532
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ATP5MC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ATP5MC1 Gene

Genomic Locations for ATP5MC1 Gene
chr17:48,892,765-48,895,871
(GRCh38/hg38)
Size:
3,107 bases
Orientation:
Plus strand
chr17:46,970,127-46,973,233
(GRCh37/hg19)

Genomic View for ATP5MC1 Gene

Genes around ATP5MC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5MC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5MC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5MC1 Gene

Proteins for ATP5MC1 Gene

  • Protein details for ATP5MC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05496-AT5G1_HUMAN
    Recommended name:
    ATP synthase F(0) complex subunit C1, mitochondrial
    Protein Accession:
    P05496

    Protein attributes for ATP5MC1 Gene

    Size:
    136 amino acids
    Molecular mass:
    14277 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c. Component of an ATP synthase complex composed of ATP5F1, ATP5G1, ATP5E, ATP5H, ATP5I, ATP5J, ATP5J2, MT-ATP6, MT-ATP8, ATP5A1, ATP5B, ATP5D, ATP5C1, ATP5O, ATP5L, USMG5 and MP68 (By similarity).
    Miscellaneous:
    • There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease).

neXtProt entry for ATP5MC1 Gene

Post-translational modifications for ATP5MC1 Gene

No Post-translational modifications

Other Protein References for ATP5MC1 Gene

No data available for DME Specific Peptides for ATP5MC1 Gene

Domains & Families for ATP5MC1 Gene

Gene Families for ATP5MC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

P05496

UniProtKB/Swiss-Prot:

AT5G1_HUMAN :
  • Belongs to the ATPase C chain family.
Family:
  • Belongs to the ATPase C chain family.
genes like me logo Genes that share domains with ATP5MC1: view

Function for ATP5MC1 Gene

Molecular function for ATP5MC1 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.

Phenotypes From GWAS Catalog for ATP5MC1 Gene

Gene Ontology (GO) - Molecular Function for ATP5MC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity NAS 8328972
GO:0005515 protein binding IPI 25416956
GO:0008289 lipid binding IEA --
GO:0015078 hydrogen ion transmembrane transporter activity IEA --
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism IBA --
genes like me logo Genes that share ontologies with ATP5MC1: view
genes like me logo Genes that share phenotypes with ATP5MC1: view

Animal Model Products

CRISPR Products

miRNA for ATP5MC1 Gene

miRTarBase miRNAs that target ATP5MC1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ATP5MC1 Gene

Localization for ATP5MC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5MC1 Gene

Mitochondrion membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5MC1 gene
Compartment Confidence
mitochondrion 5
extracellular 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ATP5MC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA --
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane NAS,TAS --
GO:0005753 mitochondrial proton-transporting ATP synthase complex ISS,TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ATP5MC1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP5MC1 Gene

Pathways & Interactions for ATP5MC1 Gene

genes like me logo Genes that share pathways with ATP5MC1: view

Gene Ontology (GO) - Biological Process for ATP5MC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA,IBA --
GO:0015991 ATP hydrolysis coupled proton transport IEA --
genes like me logo Genes that share ontologies with ATP5MC1: view

No data available for SIGNOR curated interactions for ATP5MC1 Gene

Drugs & Compounds for ATP5MC1 Gene

No Compound Related Data Available

Transcripts for ATP5MC1 Gene

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5MC1 Gene

No ASD Table

Relevant External Links for ATP5MC1 Gene

GeneLoc Exon Structure for
ATP5MC1
ECgene alternative splicing isoforms for
ATP5MC1

Expression for ATP5MC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of ATP5MC1 Gene:

ATP5MC1

Evidence on tissue expression from TISSUES for ATP5MC1 Gene

  • Nervous system(4.7)
  • Lung(4.5)
  • Liver(4.4)
  • Muscle(2.6)
  • Heart(2.5)
  • Kidney(2.2)
  • Stomach(2)
genes like me logo Genes that share expression patterns with ATP5MC1: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5MC1 Gene

Orthologs for ATP5MC1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP5MC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATP5G1 33 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia ATP5G1 33 34
  • 93.87 (n)
cow
(Bos Taurus)
Mammalia ATP5G1 33 34
  • 91.42 (n)
rat
(Rattus norvegicus)
Mammalia Atp5g1 33
  • 91.18 (n)
mouse
(Mus musculus)
Mammalia Atp5g1 33 16 34
  • 89.46 (n)
oppossum
(Monodelphis domestica)
Mammalia ATP5G1 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATP5G1 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves ATP5G1 33
  • 77.28 (n)
-- 34
  • 72 (a)
OneToMany
-- 34
  • 69 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 79 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii atp5g1 34
  • 70 (a)
OneToOne
wufb01g06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8970 33
fruit fly
(Drosophila melanogaster)
Insecta CG1746 34
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y82E9BR.3 34
  • 65 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OLI1 34
  • 61 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10146 34
  • 73 (a)
OneToMany
Species where no ortholog for ATP5MC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ATP5MC1 Gene

ENSEMBL:
Gene Tree for ATP5MC1 (if available)
TreeFam:
Gene Tree for ATP5MC1 (if available)

Paralogs for ATP5MC1 Gene

Paralogs for ATP5MC1 Gene

genes like me logo Genes that share paralogs with ATP5MC1: view

Variants for ATP5MC1 Gene

Sequence variations from dbSNP and Humsavar for ATP5MC1 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000949019 -- 48,894,256(+) T/C intron_variant
rs1001406504 -- 48,890,836(+) T/C upstream_transcript_variant
rs1002339370 -- 48,894,102(+) G/C/T intron_variant
rs1002865420 -- 48,893,790(+) G/T intron_variant
rs1003163232 -- 48,891,602(+) T/G upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ATP5MC1 Gene

Variant ID Type Subtype PubMed ID
nsv482969 CNV loss 15286789
nsv833472 CNV gain 17160897

Variation tolerance for ATP5MC1 Gene

Residual Variation Intolerance Score: 53% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 2.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5MC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5MC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5MC1 Gene

Disorders for ATP5MC1 Gene

Additional Disease Information for ATP5MC1

No disorders were found for ATP5MC1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP5MC1 Gene

Publications for ATP5MC1 Gene

  1. Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. (PMID: 8328972) Dyer MR … Walker JE (The Biochemical journal 1993) 2 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 3 4 58
  4. Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria. (PMID: 8485160) Higuti T … Tsujita H (Biochimica et biophysica acta 1993) 3 4 58
  5. Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex. (PMID: 2883974) Farrell LB … Nagley P (Biochemical and biophysical research communications 1987) 3 4 58

Products for ATP5MC1 Gene

Sources for ATP5MC1 Gene

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