CFD complement factor D [Homo sapiens (human)] - Gene

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; AllianceGenome:HGNC:2771
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: mouse all
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Genomic context

Location:: 19p13.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (859664..863641)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (815769..819749)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (859664..863641)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adipose tissue-derived adipsin marks human aging in non-type 2 diabetes population.
Title: Adipose tissue-derived adipsin marks human aging in non-type 2 diabetes population.
Combinatorial Inhibition of Complement Factor D and BCL2 for Early-Onset Colorectal Cancer.
Title: Combinatorial Inhibition of Complement Factor D and BCL2 for Early-Onset Colorectal Cancer.
Adipsin in the pathogenesis of cardiovascular diseases.
Title: Adipsin in the pathogenesis of cardiovascular diseases.
Long-term physical activity modulates adipsin and ANGPTL4 serum levels, a potential link to exercise-induced metabolic changes.
Title: Long-term physical activity modulates adipsin and ANGPTL4 serum levels, a potential link to exercise-induced metabolic changes.
Complement factor D regulates collagen type I expression and fibroblast migration to enhance human tendon repair and healing outcomes.
Title: Complement factor D regulates collagen type I expression and fibroblast migration to enhance human tendon repair and healing outcomes.
The Role of Adipsin, Complement Factor D, in the Pathogenesis of Graves' Orbitopathy.
Title: The Role of Adipsin, Complement Factor D, in the Pathogenesis of Graves' Orbitopathy.
Serum and salivary adipsin levels and its association with insulin resistance in acne vulgaris patients.
Title: Serum and salivary adipsin levels and its association with insulin resistance in acne vulgaris patients.
Elevated Adipsin and Reduced C5a Levels in the Maternal Serum and Follicular Fluid During Implantation Are Associated With Successful Pregnancy in Obese Women.
Title: Elevated Adipsin and Reduced C5a Levels in the Maternal Serum and Follicular Fluid During Implantation Are Associated With Successful Pregnancy in Obese Women.
Complement factor D as a predictor of Achilles tendon healing and long-term patient outcomes.
Title: Complement factor D as a predictor of Achilles tendon healing and long-term patient outcomes.
Plasma and aqueous levels of alarin and adipsin in patients with and without diabetic retinopathy.
Title: Plasma and aqueous levels of alarin and adipsin ın patients with and without diabetic retinopathy.

Submit: New GeneRIF Correction See all GeneRIFs (40)

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

Associated conditions

Description	Tests
Recurrent Neisseria infections due to factor D deficiency MedGen: C0398764 OMIM: 613912 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC35258 (e-PCR)
- UniSTS:33289

DF (e-PCR)
- UniSTS:253971

RH41791 (e-PCR)
- UniSTS:91096

RH11724 (e-PCR)
- UniSTS:39147

RH66738 (e-PCR)
- UniSTS:4861

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	TAS Traceable Author Statement more info
enables serine-type peptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in complement activation	TAS Traceable Author Statement more info	PubMed
involved_in complement activation, alternative pathway	TAS Traceable Author Statement more info
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	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
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info
located_in secretory granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: complement factor D

Names: C3 convertase activator; D component of complement (adipsin); complement factor D preproprotein; properdin factor D

NP_001304264.1

EC 3.4.21.46

NP_001919.2

EC 3.4.21.46

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

NG_007274.1 RefSeqGene

Range

5001..8960

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_46

mRNA and Protein(s)

NM_001317335.2 → NP_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/TrEMBL

A6XNE2, K7ERG9

Related

ENSP00000468253.1, ENST00000592860.3

Conserved Domains (2) summary

smart00020
Location:32 → 255

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:33 → 258

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 ...
NM_001928.4 → NP_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

B4DV76, P00746, Q5U5S1, Q86VJ5, Q8N4E0, Q8WZB4

UniProtKB/TrEMBL

A6XNE2

Related

ENSP00000332139.4, ENST00000327726.11

Conserved Domains (2) summary

smart00020
Location:25 → 248

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:26 → 251

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 ...