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CFD complement factor D [ Homo sapiens (human) ]

Gene ID: 1675, updated on 1-Jun-2020

Summary

Official Symbol
CFDprovided by HGNC
Official Full Name
complement factor Dprovided by HGNC
Primary source
HGNC:HGNC:2771
See related
Ensembl:ENSG00000197766 MIM:134350
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
DF; ADN; PFD; ADIPSIN
Summary
This gene encodes a member of the S1, or chymotrypsin, family of serine peptidases. This protease catalyzes the cleavage of factor B, the rate-limiting step of the alternative pathway of complement activation. This protein also functions as an adipokine, a cell signaling protein secreted by adipocytes, which regulates insulin secretion in mice. Mutations in this gene underlie complement factor D deficiency, which is associated with recurrent bacterial meningitis infections in human patients. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protease. [provided by RefSeq, Nov 2015]
Expression
Biased expression in fat (RPKM 584.9), colon (RPKM 88.4) and 1 other tissue See more
Orthologs

Genomic context

See CFD in Genome Data Viewer
Location:
19p13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (859664..863641)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (859665..863624)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene proteinase 3 Neighboring gene elastase, neutrophil expressed Neighboring gene mediator complex subunit 16 Neighboring gene RNA, U6 small nuclear 9

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
Envelope surface glycoprotein gp120 env HIV-1 gp120 modulates adipsin expression in human mesenchymal stem 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

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
serine-type endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
serine-type peptidase activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
complement activation TAS
Traceable Author Statement
more info
PubMed 
complement activation, alternative pathway TAS
Traceable Author Statement
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
platelet degranulation TAS
Traceable Author Statement
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
ficolin-1-rich granule lumen TAS
Traceable Author Statement
more info
 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 
secretory granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
complement factor D
Names
C3 convertase activator
D component of complement (adipsin)
complement factor D preproprotein
properdin factor D
NP_001304264.1
NP_001919.2

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_007274.1 RefSeqGene

    Range
    5001..8960
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_46

mRNA and Protein(s)

  1. NM_001317335.2NP_001304264.1  complement factor D isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter and contains a distinct predicted signal peptide compared to isoform 1. This isoform (2) may undergo proteolytic processing similar to isoform 1.
    Source sequence(s)
    AC112706, DA008405, DQ884409, HY281047, M84526
    Consensus CDS
    CCDS82261.1
    UniProtKB/Swiss-Prot
    P00746
    UniProtKB/TrEMBL
    A6XNE2, K7ERG9
    Related
    ENSP00000468253.1, ENST00000592860.2
    Conserved Domains (2) summary
    smart00020
    Location:32255
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:33258
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
  2. NM_001928.4NP_001919.2  complement factor D isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_001919.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
    Source sequence(s)
    AC112706, BC057807, HY087483, HY281047, M84526
    Consensus CDS
    CCDS12046.1
    UniProtKB/Swiss-Prot
    P00746
    Related
    ENSP00000332139.4, ENST00000327726.11
    Conserved Domains (2) summary
    smart00020
    Location:25248
    Tryp_SPc; Trypsin-like serine protease
    cd00190
    Location:26251
    Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    859664..863641
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187622.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    38544..42520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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