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C9 complement C9 [ Homo sapiens (human) ]

Gene ID: 735, updated on 18-Nov-2020

Summary

Official Symbol
C9provided by HGNC
Official Full Name
complement C9provided by HGNC
Primary source
HGNC:HGNC:1358
See related
Ensembl:ENSG00000113600 MIM:120940
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
Also known as
C9D; ARMD15
Summary
This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
Expression
Restricted expression toward liver (RPKM 365.0) See more
Orthologs

Genomic context

Location:
5p13.1
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (39284140..39364495, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (39284377..39364655, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene FYN binding protein 1 Neighboring gene Sharpr-MPRA regulatory region 14991 Neighboring gene golgin A5 pseudogene 1 Neighboring gene DAB adaptor protein 2 Neighboring gene uncharacterized LOC112267931

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?

Phenotypes

Associated conditions

Description Tests
Complement component 9 deficiency
MedGen: C3151189 OMIM: 613825 GeneReviews: Not available
Compare labs
Macular degeneration, age-related, 15
MedGen: C3810042 OMIM: 615591 GeneReviews: Not available
Compare labs
New loci associated with kidney function and chronic kidney disease.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env A synthetic peptide covering positions 233-251 of the HIV-1 gp120 protein binds to complement proteins C3, C4, C5, C9, and properdin 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

Potential readthrough

Included gene: DAB2

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell killing IDA
Inferred from Direct Assay
more info
PubMed 
complement activation, alternative pathway IEA
Inferred from Electronic Annotation
more info
 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
cytolysis IEA
Inferred from Electronic Annotation
more info
 
protein homooligomerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of complement activation TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
membrane attack complex IDA
Inferred from Direct Assay
more info
PubMed 
other organism cell membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
complement component C9
Names
complement component 9

NCBI Reference Sequences (RefSeq)

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_009894.1 RefSeqGene

    Range
    5001..85279
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_32

mRNA and Protein(s)

  1. NM_001737.5NP_001728.1  complement component C9 preproprotein

    See identical proteins and their annotated locations for NP_001728.1

    Status: REVIEWED

    Source sequence(s)
    AC025471, AW662752, BC020721, CB157001
    Consensus CDS
    CCDS3929.1
    UniProtKB/Swiss-Prot
    P02748
    Related
    ENSP00000263408.4, ENST00000263408.5
    Conserved Domains (3) summary
    smart00209
    Location:4595
    TSP1; Thrombospondin type 1 repeats
    smart00457
    Location:294503
    MACPF; membrane-attack complex / perforin
    cd00112
    Location:103134
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    39284140..39364495 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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