Cfd complement factor D [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cfdprovided by MGI
Official Full Name: complement factor Dprovided by MGI
Primary source: MGI:MGI:87931
See related: Ensembl:ENSMUSG00000061780 AllianceGenome:MGI:87931
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: DF; Adn
Summary: This gene encodes a serine protease that plays an important role in the alternative pathway of complement activation for pathogen recognition and elimination. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme that in turn cleaves factor B in the complement pathway. This gene is expressed in adipocytes and the mature enzyme is secreted into the bloodstream. Mice lacking the encoded product cannot initiate alternative pathway of complement activation. [provided by RefSeq, Jul 2016]
Expression: Biased expression in mammary gland adult (RPKM 11182.1), subcutaneous fat pad adult (RPKM 7523.9) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 C1; 10 39.72 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (79726687..79728489)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (79890853..79892655)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Adipsin and adipocyte-derived C3aR1 regulate thermogenic fat in a sex-dependent fashion.
Title: Adipsin and adipocyte-derived C3aR1 regulate thermogenic fat in a sex-dependent fashion.
Adipsin inhibits Irak2 mitochondrial translocation and improves fatty acid beta-oxidation to alleviate diabetic cardiomyopathy.
Title: Adipsin inhibits Irak2 mitochondrial translocation and improves fatty acid β-oxidation to alleviate diabetic cardiomyopathy.
Review of the mechanism of complement factor D (FD) activation using mice monospecifically deficient for MASP-1 or MASP-3. Sera of the MASP-1-deficient mice lacked lectin pathway activity, but those of the MASP-3-deficient mice lacked alternative pathway activity with pro-FD.
Title: Factor D.
Adipsin promotes bone marrow adiposity by priming mesenchymal stem cells.
Title: Adipsin promotes bone marrow adiposity by priming mesenchymal stem cells.
Regulation of Adipsin Expression by Endoplasmic Reticulum Stress in Adipocytes.
Title: Regulation of Adipsin Expression by Endoplasmic Reticulum Stress in Adipocytes.
Adipsin deficiency does not impact atherosclerosis development in Ldlr(-/-) mice.
Title: Adipsin deficiency does not impact atherosclerosis development in Ldlr(-/-) mice.
In vivo protective effect of adipsin-deficiency on spontaneous knee osteoarthritis in aging mice.
Title: In vivo protective effect of adipsin-deficiency on spontaneous knee osteoarthritis in aging mice.
Absence of adiponectin, leptin, or both has no effect on joint disease, but deletion of the adipokine adipsin (complement factor D) completely prevents serum-induced inflammatory arthritis.
Title: Fat-Produced Adipsin Regulates Inflammatory Arthritis.
An essential role for Factor D in the ability of the liver to recover from acute toxic injury, is reported.
Title: Alternative complement pathway component Factor D contributes to efficient clearance of tissue debris following acute CCl₄-induced injury.
The present study identifies adipsin, one of the most abundant and specifically expressed adipose proteins, as a circulating factor linking fat cells and obesity to beta cell function.
Title: Adipsin is an adipokine that improves β cell function in diabetes.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (6) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Cfd (e-PCR), detects polymorphism
- UniSTS:547564

Adn (e-PCR), detects polymorphism
- UniSTS:141039

PMC19970P1 (e-PCR)
- UniSTS:271870

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables endopeptidase activity	ISO Inferred from Sequence Orthology more info
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables serine-type endopeptidase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within complement activation, alternative pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
involved_in proteolysis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to bacterium	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within vascular associated smooth muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: complement factor D

Names: 28 kDa adipocyte protein; C3 convertase activator; D component (adipsin) of complement; complement factor D (adipsin); properdin factor D

NP_001278844.1

EC 3.4.21.46

NP_001316470.1

EC 3.4.21.46

NP_038487.1

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.

mRNA and Protein(s)

NM_001291915.2 → NP_001278844.1 complement factor D isoform 2 preproprotein

See identical proteins and their annotated locations for NP_001278844.1

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 protein (isoform 2) is shorter, compared to isoform 1.

Source sequence(s)

AA512566, BC145412

Consensus CDS

CCDS88051.1

UniProtKB/TrEMBL

B7ZNS9

Related

ENSMUSP00000151894.2, ENSMUST00000217837.2

Conserved Domains (2) summary

smart00020
Location:24 → 248

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:25 → 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 ...
NM_001329541.1 → NP_001316470.1 complement factor D isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of 5' coding region and initiates translation an alternate start site, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AA512566, BC138778

UniProtKB/TrEMBL

Q3UP47

Conserved Domains (2) summary

smart00020
Location:4 → 180

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:4 → 183

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_013459.4 → NP_038487.1 complement factor D isoform 1 preproprotein

See identical proteins and their annotated locations for NP_038487.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AA512566, BC138778

Consensus CDS

CCDS23995.1

UniProtKB/Swiss-Prot

P03953, Q61280

UniProtKB/TrEMBL

Q3UP47

Related

ENSMUSP00000056836.8, ENSMUST00000061653.9

Conserved Domains (2) summary

smart00020
Location:25 → 249

Tryp_SPc; Trypsin-like serine protease

cd00190
Location:26 → 252

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 ...