U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 722, updated on 5-May-2024

    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; AllianceGenome:HGNC:1325
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See C4BPA in Genome Data Viewer
    Location:
    1q32.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207104233..207144972)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (206369472..206410221)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207277578..207318317)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207224117-207224687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207225911-207226550 Neighboring gene 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:207240869-207241100 Neighboring gene YOD1 deubiquitinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2439 Neighboring gene complement component 4 binding protein beta Neighboring gene uncharacterized LOC107985251 Neighboring gene Sharpr-MPRA regulatory region 9788 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

    EBI GWAS Catalog

    Description
    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.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in blood microparticle HDA PubMed 
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in extracellular space HDA PubMed 
    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 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q5VVQ8
      UniProtKB/TrEMBL
      B4E1E1
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      207104233..207144972
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005273252.5XP_005273309.1  C4b-binding protein alpha chain isoform X1

      See identical proteins and their annotated locations for XP_005273309.1

      UniProtKB/Swiss-Prot
      P04003, Q5VVQ8
      UniProtKB/TrEMBL
      B4E1E1
      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_005273251.3XP_005273308.1  C4b-binding protein alpha chain isoform X1

      See identical proteins and their annotated locations for XP_005273308.1

      UniProtKB/Swiss-Prot
      P04003, Q5VVQ8
      UniProtKB/TrEMBL
      B4E1E1
      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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      206369472..206410221
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338582.1XP_054194557.1  C4b-binding protein alpha chain isoform X1

    2. XM_054338581.1XP_054194556.1  C4b-binding protein alpha chain isoform X1