Aliases for FMC1 Gene

Aliases for FMC1 Gene

  • Formation Of Mitochondrial Complex V Assembly Factor 1 Homolog 2 3 4 5
  • ATP Synthase Assembly Factor FMC1, Mitochondrial 3 4
  • Protein FMC1 Homolog 3 4
  • C7orf55 3 4
  • Formation Of Mitochondrial Complexes 1 Homolog (S. Cerevisiae) 2
  • Formation Of Mitochondrial Complex V Assembly Factor 1 2
  • Formation Of Mitochondrial Complexes 1 Homolog 3
  • Chromosome 7 Open Reading Frame 55 2
  • UPF0562 Protein C7orf55 3
  • HSPC268 3

External Ids for FMC1 Gene

Previous HGNC Symbols for FMC1 Gene

  • C7orf55

Previous GeneCards Identifiers for FMC1 Gene

  • GC07P138681
  • GC07P139360
  • GC07P139362
  • GC07P139364
  • GC07P139347
  • GC07P139349
  • GC07P139351
  • GC07P139353
  • GC07P139355
  • GC07P139357
  • GC07P139359

Summaries for FMC1 Gene

GeneCards Summary for FMC1 Gene

FMC1 (Formation Of Mitochondrial Complex V Assembly Factor 1 Homolog) is a Protein Coding gene. Diseases associated with FMC1 include Syringomyelia.

UniProtKB/Swiss-Prot Summary for FMC1 Gene

  • Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) (PubMed:28719601).

Additional gene information for FMC1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FMC1 Gene

Genomics for FMC1 Gene

GeneHancer (GH) Regulatory Elements for FMC1 Gene

Promoters and enhancers for FMC1 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
GH07J139339 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +1.8 1751 4 RXRA FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G LUC7L2 AJ535831-005 FMC1 FMC1-LUC7L2 TRR-CCT4-1 piR-30229 UBN2 ENSG00000273391 TTC26 KLRG2
GH07J139369 Promoter/Enhancer 1.4 UCNEbase EPDnew Ensembl dbSUPER 12 +32.0 31973 6.9 HNRNPK USF1 ZNF341 WT1 ZBTB17 POLR2A MEF2B RBM22 SUPT5H FOXA1 LUC7L2 ENSG00000273391 FMC1 NONHSAG048936.2 FMC1-LUC7L2
GH07J139365 Promoter/Enhancer 1.1 EPDnew Ensembl dbSUPER 12.1 +27.1 27144 2.4 ZBTB40 ZNF316 ZBTB17 MAFF MEF2B RBM22 BATF EBF1 ZNF189 SCRT1 LUC7L2 ENSG00000273391 FMC1 FMC1-LUC7L2 NONHSAG048936.2
GH07J139394 Enhancer 0.6 Ensembl ENCODE 10.7 +54.9 54944 2.4 POLR2A GATA3 ZNF449 HMBOX1 ENSG00000273391 FMC1 LUC7L2 NONHSAG048936.2 FMC1-LUC7L2
GH07J139377 Promoter 0.4 EPDnew 11.6 +38.4 38373 0.1 ZNF770 LUC7L2 FMC1 ENSG00000273391 NONHSAG048936.2 FMC1-LUC7L2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FMC1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FMC1

Genomic Locations for FMC1 Gene

Genomic Locations for FMC1 Gene
chr7:139,339,457-139,346,328
(GRCh38/hg38)
Size:
6,872 bases
Orientation:
Plus strand
chr7:139,024,203-139,031,065
(GRCh37/hg19)
Size:
6,863 bases
Orientation:
Plus strand

Genomic View for FMC1 Gene

Genes around FMC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FMC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FMC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FMC1 Gene

Proteins for FMC1 Gene

  • Protein details for FMC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HJ9-FMC1_HUMAN
    Recommended name:
    Protein FMC1 homolog
    Protein Accession:
    Q96HJ9
    Secondary Accessions:
    • B7Z4Q3
    • Q75M90
    • Q9P0B3

    Protein attributes for FMC1 Gene

    Size:
    113 amino acids
    Molecular mass:
    12749 Da
    Quaternary structure:
    • Interacts with ATPAF2 (PubMed:28719601).
    SequenceCaution:
    • Sequence=AAF28946.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAF28946.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for FMC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FMC1 Gene

Post-translational modifications for FMC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FMC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FMC1 Gene

Domains & Families for FMC1 Gene

Gene Families for FMC1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FMC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FMC1 Gene

GenScript: Design optimal peptide antigens:
  • UPF0562 protein C7orf55 (CG055_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96HJ9

UniProtKB/Swiss-Prot:

FMC1_HUMAN :
  • Belongs to the FMC1 family.
Family:
  • Belongs to the FMC1 family.
genes like me logo Genes that share domains with FMC1: view

Function for FMC1 Gene

Molecular function for FMC1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the assembly/stability of the mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) (PubMed:28719601).

Phenotypes From GWAS Catalog for FMC1 Gene

Gene Ontology (GO) - Molecular Function for FMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28719601
genes like me logo Genes that share ontologies with FMC1: view
genes like me logo Genes that share phenotypes with FMC1: view

Animal Models for FMC1 Gene

MGI Knock Outs for FMC1:
  • Fmc1 Fmc1<tm1b(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FMC1 Gene

Localization for FMC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FMC1 Gene

Mitochondrion.

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 FMC1 gene
Compartment Confidence
mitochondrion 5
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 28719601
genes like me logo Genes that share ontologies with FMC1: view

Pathways & Interactions for FMC1 Gene

PathCards logo

SuperPathways for FMC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033615 mitochondrial proton-transporting ATP synthase complex assembly IMP 28719601
GO:0050995 negative regulation of lipid catabolic process IEA --
GO:0061469 regulation of type B pancreatic cell proliferation IEA --
genes like me logo Genes that share ontologies with FMC1: view

No data available for Pathways by source and SIGNOR curated interactions for FMC1 Gene

Drugs & Compounds for FMC1 Gene

No Compound Related Data Available

Transcripts for FMC1 Gene

mRNA/cDNA for FMC1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FMC1 Gene

No ASD Table

Relevant External Links for FMC1 Gene

GeneLoc Exon Structure for
FMC1

Expression for FMC1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FMC1

Evidence on tissue expression from TISSUES for FMC1 Gene

  • Blood(4.3)
  • Nervous system(4.2)
No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 FMC1 Gene

Orthologs for FMC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FMC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FMC1 31 30
  • 99.41 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fmc1 30
  • 91.15 (n)
cow
(Bos Taurus)
Mammalia C4H7orf55 30
  • 91.15 (n)
dog
(Canis familiaris)
Mammalia C16H7orf55 30
  • 90.56 (n)
mouse
(Mus musculus)
Mammalia 1110001J03Rik 31 30
  • 88.5 (n)
OneToOne
Fmc1 17
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf55 31
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C7orf55 31
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7orf55 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c7orf55 30
  • 66.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12989 30
zebrafish
(Danio rerio)
Actinopterygii LOC100330660 30
  • 54.74 (n)
C3H7orf55 31
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34117 31
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C29E4.12 31
  • 31 (a)
OneToOne
Species where no ortholog for FMC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)

Evolution for FMC1 Gene

ENSEMBL:
Gene Tree for FMC1 (if available)
TreeFam:
Gene Tree for FMC1 (if available)

Paralogs for FMC1 Gene

No data available for Paralogs for FMC1 Gene

Variants for FMC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FMC1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs10265 - p.Ser8Ala

Additional dbSNP identifiers (rs#s) for FMC1 Gene

Structural Variations from Database of Genomic Variants (DGV) for FMC1 Gene

Variant ID Type Subtype PubMed ID
esv2735212 CNV deletion 23290073

Variation tolerance for FMC1 Gene

Residual Variation Intolerance Score: 62.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.59; 94.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FMC1 Gene

Human Gene Mutation Database (HGMD)
FMC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FMC1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FMC1 Gene

Disorders for FMC1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FMC1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
syringomyelia
- elite association - COSMIC cancer census association via MalaCards
Search FMC1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FMC1

genes like me logo Genes that share disorders with FMC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FMC1 Gene

Publications for FMC1 Gene

  1. CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets. (PMID: 28719601) Li Y … Mootha VK (PLoS computational biology 2017) 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 54
  4. Identification of a nuclear gene (FMC1) required for the assembly/stability of yeast mitochondrial F(1)-ATPase in heat stress conditions. (PMID: 11096112) Lefebvre-Legendre L … di Rago JP (The Journal of biological chemistry 2001) 2 3 54
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3 54

Products for FMC1 Gene

Sources for FMC1 Gene