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C7 complement C7 [ Homo sapiens (human) ]

Gene ID: 730, updated on 3-Dec-2023

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
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Genomic context

Location:
5p13.1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (40909497..40984643)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (41165912..41241067)
105.20220307 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)

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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.

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_2023_10

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)