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C4BPA complement component 4 binding protein alpha [ Homo sapiens (human) ]

Gene ID: 722, updated on 8-Jul-2021

Summary

Official Symbol
C4BPAprovided by HGNC
Official Full Name
complement component 4 binding protein alphaprovided by HGNC
Primary source
HGNC:HGNC:1325
See related
Ensembl:ENSG00000123838 MIM:120830
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
PRP; C4BP
Summary
This gene encodes a member of a superfamily of proteins composed predominantly of tandemly arrayed short consensus repeats of approximately 60 amino acids. Along with a single, unique beta-chain, seven identical alpha-chains encoded by this gene assemble into the predominant isoform of C4b-binding protein, a multimeric protein that controls activation of the complement cascade through the classical pathway. The genes encoding both alpha and beta chains are located adjacent to each other on human chromosome 1 in the regulator of complement activation gene cluster. Two pseudogenes of this gene are also found in the cluster. [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 372.5) and lung (RPKM 75.1) See more
Orthologs
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Genomic context

See C4BPA in Genome Data Viewer
Location:
1q32.2
Exon count:
12
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (207104232..207144972)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207277578..207318317)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene YOD1 deubiquitinase Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Neighboring gene complement component 4 binding protein beta Neighboring gene uncharacterized LOC107985251 Neighboring gene C4BPA pseudogene 1 Neighboring gene C4BPA pseudogene 3

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
C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S-independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studies.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

Preferred Names
C4b-binding protein alpha chain
Names
proline-rich protein

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

  1. NG_029579.1 RefSeqGene

    Range
    4972..45711
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_547

mRNA and Protein(s)

  1. NM_000715.4NP_000706.1  C4b-binding protein alpha chain precursor

    See identical proteins and their annotated locations for NP_000706.1

    Status: REVIEWED

    Source sequence(s)
    AL445493, BC022312, BQ019292
    Consensus CDS
    CCDS1477.1
    UniProtKB/Swiss-Prot
    P04003
    Related
    ENSP00000356037.3, ENST00000367070.8
    Conserved Domains (4) summary
    cd00033
    Location:175235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:365422
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:298538
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:484538
    Sushi; Sushi repeat (SCR repeat)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    207104232..207144972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273252.4XP_005273309.1  C4b-binding protein alpha chain isoform X1

    See identical proteins and their annotated locations for XP_005273309.1

    UniProtKB/Swiss-Prot
    P04003
    Conserved Domains (4) summary
    cd00033
    Location:175235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:365422
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:298538
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:484538
    Sushi; Sushi repeat (SCR repeat)
  2. XM_005273251.2XP_005273308.1  C4b-binding protein alpha chain isoform X1

    See identical proteins and their annotated locations for XP_005273308.1

    UniProtKB/Swiss-Prot
    P04003
    Conserved Domains (4) summary
    cd00033
    Location:175235
    CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
    smart00032
    Location:365422
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
    PHA02927
    Location:298538
    PHA02927; secreted complement-binding protein; Provisional
    pfam00084
    Location:484538
    Sushi; Sushi repeat (SCR repeat)
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