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    FMC1 formation of mitochondrial complex V assembly factor 1 homolog [ Homo sapiens (human) ]

    Gene ID: 154791, updated on 22-Mar-2024

    Summary

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    Official Symbol
    FMC1provided by HGNC
    Official Full Name
    formation of mitochondrial complex V assembly factor 1 homologprovided by HGNC
    Primary source
    HGNC:HGNC:26946
    See related
    Ensembl:ENSG00000164898 MIM:620766; AllianceGenome:HGNC:26946
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C7orf55; HSPC268
    Summary
    Involved in mitochondrial proton-transporting ATP synthase complex assembly. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 11.0), kidney (RPKM 8.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7q34
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (139340472..139346328)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (140653753..140659609)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (139025218..139031074)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26753 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18693 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:138916940-138917199 Neighboring gene ribosomal protein L37a pseudogene 5 Neighboring gene ubinuclein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:138979320-138979488 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:138992956-138994155 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139004261-139005211 Neighboring gene RNA, U6 small nuclear 206, pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr7:139010799-139010978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26755 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139026059-139026626 Neighboring gene FMC1-LUC7L2 readthrough Neighboring gene tRNA-Arg (anticodon CCT) 4-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26759 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18695 Neighboring gene LUC7 like 2, pre-mRNA splicing factor Neighboring gene MPRA-validated peak6781 silencer Neighboring gene uncharacterized LOC100129148 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:139111514-139112150 Neighboring gene killer cell lectin like receptor G2 Neighboring gene RNA, U6 small nuclear 911, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. CLIC, a tool for expanding biological pathways based on co-expression across thousands of datasets. Li Y, et al. PLoS Comput Biol, 2017 Jul. PMID 28719601, Free PMC Article
    2. Identification of a nuclear gene (FMC1) required for the assembly/stability of yeast mitochondrial F(1)-ATPase in heat stress conditions. Lefebvre-Legendre L, et al. J Biol Chem, 2001 Mar 2. PMID 11096112
    3. Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens. Haney MS, et al. Nat Genet, 2018 Dec. PMID 30397336, Free PMC Article
    4. Mitochondrial ClpP-Mediated Proteolysis Induces Selective Cancer Cell Lethality. Ishizawa J, et al. Cancer Cell, 2019 May 13. PMID 31056398, Free PMC Article
    5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough FMC1-LUC7L2

    Readthrough gene: FMC1-LUC7L2, Included gene: LUC7L2

    Homology

    Clone Names

    • FLJ35699

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in mitochondrial proton-transporting ATP synthase complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of type B pancreatic cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein FMC1 homolog
    Names
    ATP synthase assembly factor FMC1, mitochondrial
    UPF0562 protein C7orf55
    formation of mitochondrial complexes 1 homolog

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_197964.5 → NP_932068.2  protein FMC1 homolog

      See identical proteins and their annotated locations for NP_932068.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the supproted protein.
      Source sequence(s)
      AC083880, BC008467, CB125801
      Consensus CDS
      CCDS5853.1
      UniProtKB/Swiss-Prot
      B7Z4Q3, Q75M90, Q96HJ9, Q9P0B3
      Related
      ENSP00000297534.6, ENST00000297534.7

    RNA

    1. NR_073058.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' exon and includes an additional internal exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.
      Source sequence(s)
      AA620996, AC083880, BC008467, BU852633

    2. NR_073059.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.
      Source sequence(s)
      AC083880, BC008467, BU852633

    3. NR_073060.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because it lacks an in-frame ORF, compared to variant 1.
      Source sequence(s)
      AA393224, AC083880, BC008467, BU852633

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      139340472..139346328
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      140653753..140659609
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HJ9.2 GenPept UniProtKB/Swiss-Prot:Q96HJ9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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