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    C7 complement C7 [ Homo sapiens (human) ]

    Gene ID: 730, updated on 9-Dec-2024

    Summary

    Official Symbol
    C7provided by HGNC
    Official Full Name
    complement C7provided by HGNC
    Primary source
    HGNC:HGNC:1346
    See related
    Ensembl:ENSG00000112936 MIM:217070; AllianceGenome:HGNC:1346
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a serum glycoprotein that forms a membrane attack complex together with complement components C5b, C6, C8, and C9 as part of the terminal complement pathway of the innate immune system. The protein encoded by this gene contains a cholesterol-dependent cytolysin/membrane attack complex/perforin-like (CDC/MACPF) domain and belongs to a large family of structurally related molecules that form pores involved in host immunity and bacterial pathogenesis. This protein initiates membrane attack complex formation by binding the C5b-C6 subcomplex and inserts into the phospholipid bilayer, serving as a membrane anchor. Mutations in this gene are associated with a rare disorder called C7 deficiency. [provided by RefSeq, Nov 2016]
    Expression
    Broad expression in adrenal (RPKM 552.9), gall bladder (RPKM 224.3) and 14 other tissues See more
    Orthologs
    NEW
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    Genomic context

    Location:
    5p13.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (40909497..40984643)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (41165912..41241067)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (40909599..40984745)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22504 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40835903-40836726 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:40860098-40860299 Neighboring gene small nucleolar RNA, C/D box 72 Neighboring gene MPRA-validated peak5236 silencer Neighboring gene MPRA-validated peak5237 silencer Neighboring gene ribosomal protein L37 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:40877367-40878566 Neighboring gene caspase recruitment domain family member 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:40895839-40896488 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:40916273-40916808 Neighboring gene RNA, U7 small nuclear 161 pseudogene Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:41008527-41009726 Neighboring gene maestro heat like repeat family member 2B Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:41064203-41064771 Neighboring gene uncharacterized LOC105374739 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:41122112-41123311 Neighboring gene complement C6

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of complement component 7 (C7) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in complement activation, alternative pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in complement activation, classical pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in killing of cells of another organism IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of immune response NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of membrane attack complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of membrane attack complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of membrane attack complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in plasma membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    complement component C7
    Names
    complement component 7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_011692.1 RefSeqGene

      Range
      5001..78443
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_30

    mRNA and Protein(s)

    1. NM_000587.4NP_000578.2  complement component C7 precursor

      See identical proteins and their annotated locations for NP_000578.2

      Status: REVIEWED

      Source sequence(s)
      AC114967, AI654048, BC025402, BC063851
      Consensus CDS
      CCDS47201.1
      UniProtKB/Swiss-Prot
      A8K2T4, P10643, Q6P3T5, Q92489
      UniProtKB/TrEMBL
      B2R6W1
      Related
      ENSP00000322061.9, ENST00000313164.10
      Conserved Domains (5) summary
      smart00057
      Location:771840
      FIMAC; factor I membrane attack complex
      smart00209
      Location:503545
      TSP1; Thrombospondin type 1 repeats
      smart00457
      Location:250450
      MACPF; membrane-attack complex / perforin
      cd00112
      Location:89119
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cl27761
      Location:571683
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      40909497..40984643
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      41165912..41241067
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)