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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
  • 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
  • Protein FMC1 Homolog 3
  • HSPC268 3

External Ids for FMC1 Gene

Previous HGNC Symbols for FMC1 Gene

  • C7orf55

Previous GeneCards Identifiers for FMC1 Gene

  • GC07P138681
  • GC07P139347
  • GC07P139349
  • GC07P139351

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 Splenic Disease.

Additional gene information for FMC1 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FMC1 Gene

Genomics for FMC1 Gene

Regulatory Elements for FMC1 Gene

Enhancers for FMC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07H139369 0.6 dbSUPER 12 +30.9 30932 2 POLR2A ZNF366 ZNF341 ZNF600 WT1 SP7 ENSG00000273391 FMC1 LUC7L2 GC07P139363 LOC100129148
GH07H139367 0.6 dbSUPER 12 +28.3 28265 0 ZNF316 MAFG ZFP37 EBF1 NFE2 BATF EMSY ENSG00000273391 FMC1 LUC7L2 GC07P139363 LOC100129148
GH07H139372 0.4 dbSUPER 11.6 +33.7 33747 1 FOXA1 ENSG00000273391 LUC7L2 FMC1 GC07P139363 LOC100129148
GH07H139403 0.4 ENCODE 11.1 +64.1 64119 0 CTBP1 FOS ENSG00000273391 LUC7L2 FMC1 LOC100129148 GC07P139363
GH07H139394 0.4 ENCODE 10.7 +55.2 55223 0 GATA3 HMBOX1 ENSG00000273391 LUC7L2 FMC1 LOC100129148 GC07P139363
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FMC1 on UCSC Golden Path with GeneCards custom track

Promoters for FMC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000218930 1544 2800 MLX DMAP1 YY1 ZNF143 SP3 NFYC ZC3H11A MEF2D SSRP1 ZNF610

Genomic Location for FMC1 Gene

Chromosome:
7
Start:
139,339,457 bp from pter
End:
139,346,319 bp from pter
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:
    No Data Available
    SequenceCaution:
    • Sequence=AAF28946.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=AAF28946.1; Type=Frameshift; Positions=64; 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

ProtoNet:

Suggested Antigen Peptide Sequences for FMC1 Gene

GenScript: Design optimal peptide antigens:

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

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

Animal Models for FMC1 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FMC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FMC1 Gene

Localization for FMC1 Gene

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 4
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 IEA --
genes like me logo Genes that share ontologies with FMC1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FMC1 Gene

Pathways & Interactions for FMC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FMC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FMC1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for FMC1 Gene

GeneLoc Exon Structure for
FMC1
ECgene alternative splicing isoforms for
FMC1

Expression for FMC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of FMC1 Gene:

FMC1

Evidence on tissue expression from TISSUES for FMC1 Gene

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

Primer Products

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 34 33
  • 99.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C4H7orf55 33
  • 91.15 (n)
rat
(Rattus norvegicus)
Mammalia Fmc1 33
  • 91.15 (n)
dog
(Canis familiaris)
Mammalia C16H7orf55 33
  • 90.56 (n)
mouse
(Mus musculus)
Mammalia 1110001J03Rik 34 33
  • 88.5 (n)
OneToOne
Fmc1 16
platypus
(Ornithorhynchus anatinus)
Mammalia C7orf55 34
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C7orf55 34
  • 43 (a)
OneToOne
chicken
(Gallus gallus)
Aves C7orf55 34
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c7orf55 33
  • 66.06 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12989 33
zebrafish
(Danio rerio)
Actinopterygii LOC100330660 33
  • 54.74 (n)
C3H7orf55 34
  • 46 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG34117 34
  • 39 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C29E4.12 34
  • 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 from dbSNP and Humsavar for FMC1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000087403 -- 139,339,108(+) TTACT(C/T)ATTAA upstream-variant-2KB
rs1000174566 -- 139,339,878(+) GACAC(A/G)GCACA upstream-variant-2KB
rs1000404486 -- 139,345,066(+) AGTCA(C/T)AGAAA intron-variant
rs1000585773 -- 139,342,477(+) TAGAT(-/G)GAAGT intron-variant
rs1000614876 -- 139,340,084(+) CTCTG(C/T)GTTGG upstream-variant-2KB

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)

Relevant External Links for FMC1 Gene

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

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: HGMD and DISEASES

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

Relevant External Links for FMC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FMC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 60
  3. 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 60
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. (PMID: 27499296) Floyd BJ … Pagliarini DJ (Molecular cell 2016) 3 60

Products for FMC1 Gene

Sources for FMC1 Gene

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