Search for P0C0L4

Term identified:
P0C0L4
Classification:
human
Homo sapiens

Gene

4 genes available
ENSG00000244731ENSG00000244731 (HGNC: C4A)
ENSG00000227746ENSG00000227746 (HGNC: C4A)
ENSG00000206340ENSG00000206340 (HGNC: C4A)
OTTHUMG00000031186OTTHUMG00000031186 (HGNC: C4A)

Complement component 4A (Rodgers blood group)

Gene Information and Sequence
Variations
Orthologues
Paralogues
Regulation
  • The Ensembl project produces genome databases for vertebrates and other eukaryotic species, and makes this information freely available online.
  • The current release 81 ( July 2015 ) of the Ensembl provides access to the genomic, comparative, functional and variation data from 69 species.
  • View more information in Ensembl.

Expression

ENSG00000244731 expression summary

organism part
  • Not studied or no differential expression found for this gene
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disease
  • Not studied or no differential expression found for this gene
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cell type
  • Not studied or no differential expression found for this gene
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cell line
  • Not studied or no differential expression found for this gene
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Compound treatment
  • Not studied or no differential expression found for this gene
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developmental stage
  • Not studied or no differential expression found for this gene
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Infection
  • Not studied or no differential expression found for this gene
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phenotype
  • Not studied or no differential expression found for this gene
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  • Data source: Expression Atlas (12-11-2013).
  • Expression Atlas is a semantically enriched database of publicly available gene and transcript expression data. The data is re-analysed in-house to detect genes showing interesting baseline and differential expression patterns under the conditions of the original experiment.
  • About Expression Atlas

Protein

Complement C4-A

Function
  • Non-enzymatic component of C3 and C5 convertases and thus essential for the propagation of the classical complement pathway. Covalently binds to immunoglobulins and immune complexes and enhances the solubilization of immune aggregates and the clearance of IC through CR1 on erythrocytes. C4A isotype is responsible for effective binding to form amide bonds with immune aggregates or protein antigens, while C4B isotype catalyzes the transacylation of the thioester carbonyl group to form ester bonds with carbohydrate antigens
  • Derived from proteolytic degradation of complement C4, C4a anaphylatoxin is a mediator of local inflammatory process. It induces the contraction of smooth muscle, increases vascular permeability and causes histamine release from mast cells and basophilic leukocytes
Disease
  • Complement component 4A deficiency (C4AD) [MIM:614380]: A rare defect of the complement classical pathway associated with the development of autoimmune disorders, mainly systemic lupus with or without associated glomerulonephritis. Note: [The disease is caused by mutations affecting the gene represented in this entry]
  • Systemic lupus erythematosus (SLE) [MIM:152700]: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Note: [Disease susceptibility is associated with variations affecting the gene represented in this entry. Interindividual copy-number variation (CNV) of complement component C4 and associated polymorphisms result in different susceptibilities to SLE. The risk of SLE susceptibility has been shown to be significantly increased among subjects with only two copies of total C4. A high copy number is a protective factor against SLE]
Subcellular Location
  • Secreted
GO Cellular Components
  • blood microparticle; extracellular exosome; extracellular region; (1 more)
  • View all in UniProt
GO Biological Processes
  • complement activation; complement activation, classical pathway; inflammatory response; (3 more)
  • View all in UniProt
GO Molecular Functions
Protein Existence
  • Evidence at protein level
Isoform
Sequence
  • UniProt Data Source, 2015.08
  • UniProt is a comprehensive, high-quality and freely accessible resource for protein sequences and functional information.
  • View more information in UniProt

Protein Structure

3 protein structures available
4fxgComplement C4 in complex with MASP-2
4fxkHuman complement C4
1hzfC4ADG FRAGMENT OF HUMAN COMPLEMENT FACTOR C4A
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Literature

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