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CD46 CD46 molecule [ Homo sapiens (human) ]

Gene ID: 4179, updated on 15-Sep-2017
Official Symbol
CD46provided by HGNC
Official Full Name
CD46 moleculeprovided by HGNC
Primary source
HGNC:HGNC:6953
See related
Ensembl:ENSG00000117335 MIM:120920; Vega:OTTHUMG00000036397
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
MCP; TLX; AHUS2; MIC10; TRA2.10
Summary
The protein encoded by this gene is a type I membrane protein and is a regulatory part of the complement system. The encoded protein has cofactor activity for inactivation of complement components C3b and C4b by serum factor I, which protects the host cell from damage by complement. In addition, the encoded protein can act as a receptor for the Edmonston strain of measles virus, human herpesvirus-6, and type IV pili of pathogenic Neisseria. Finally, the protein encoded by this gene may be involved in the fusion of the spermatozoa with the oocyte during fertilization. Mutations at this locus have been associated with susceptibility to hemolytic uremic syndrome. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]
Orthologs
Location:
1q32.2
Exon count:
14
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (207752038..207795516)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207925383..207968861)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene complement C3b/C4b receptor 1 like Neighboring gene cell division cycle associated 4 pseudogene 3 Neighboring gene complement component 3b/4b receptor 1 (Knops blood group) pseudogene Neighboring gene cell division cycle associated 4 pseudogene 4 Neighboring gene chromosome 1 open reading frame 132 Neighboring gene microRNA 29b-2 Neighboring gene microRNA 29c

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Atypical hemolytic-uremic syndrome 2 Compare labs

NHGRI GWAS Catalog

Description
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
NHGRI GWA Catalog
Biological insights from 108 schizophrenia-associated genetic loci.
NHGRI GWA Catalog
Common variants associated with general and MMR vaccine-related febrile seizures.
NHGRI GWA Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
NHGRI GWA Catalog
Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of CD46 PubMed

Protein interactions

Protein Gene Interaction Pubs
Nef nef HIV-1 Nef downregulates the cell surface expression of CD46 PubMed
Pr55(Gag) gag HIV-1 Gag associates with CD46 weakly in HeLa cells PubMed

Go to the HIV-1, Human Interaction Database

  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement cascade, organism-specific biosystem (from REACTOME)
    Complement cascade, organism-specific biosystemIn the complement cascade, a panel of soluble molecules rapidly and effectively senses a danger or damage and triggers reactions to provide a response that discriminates among foreign intruders, cell...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Measles, organism-specific biosystem (from KEGG)
    Measles, organism-specific biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Measles, conserved biosystem (from KEGG)
    Measles, conserved biosystemMeasles virus (MV) is highly contagious virus that leads infant death worldwide. Humans are the unique natural reservoir for this virus. It causes severe immunosuppression favouring secondary bacteri...
  • Regulation of Complement cascade, organism-specific biosystem (from REACTOME)
    Regulation of Complement cascade, organism-specific biosystemTwo inherent features of complement activation make its regulation very important: 1. There is an inherent positive feedback loop because the product of C3 activation forms part of an enzyme that cau...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC26544

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cadherin binding IPI
Inferred from Physical Interaction
more info
PubMed 
complement binding IEA
Inferred from Electronic Annotation
more info
 
endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
enzyme inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor activity TAS
Traceable Author Statement
more info
PubMed 
virus receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
T cell mediated immunity IMP
Inferred from Mutant Phenotype
more info
PubMed 
adaptive immune response IC
Inferred by Curator
more info
PubMed 
complement activation, classical pathway IEA
Inferred from Electronic Annotation
more info
 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
negative regulation of complement activation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of interleukin-10 production IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of memory T cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of regulatory T cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transforming growth factor beta production IDA
Inferred from Direct Assay
more info
PubMed 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
regulation of Notch signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
regulation of complement activation TAS
Traceable Author Statement
more info
 
sequestering of extracellular ligand from receptor IDA
Inferred from Direct Assay
more info
PubMed 
single fertilization IEA
Inferred from Electronic Annotation
more info
 
viral entry into host cell IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IEA
Inferred from Electronic Annotation
more info
 
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
inner acrosomal membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
membrane cofactor protein
Names
CD46 antigen, complement regulatory protein
CD46 molecule, complement regulatory protein
antigen identified by monoclonal antibody TRA-2-10
complement membrane cofactor protein
measles virus receptor
membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)
trophoblast leucocyte common antigen
trophoblast leukocyte common antigen
trophoblast-lymphocyte cross-reactive antigen

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_009296.1 RefSeqGene

    Range
    4982..48460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_155

mRNA and Protein(s)

  1. NM_002389.4NP_002380.3  membrane cofactor protein isoform 1 precursor

    See identical proteins and their annotated locations for NP_002380.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (a) represents the longest transcript and encodes isoform 1.
    Source sequence(s)
    AI589224, BC030594, DB078198, X59410
    Consensus CDS
    CCDS1485.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000350893.2, OTTHUMP00000034577, ENST00000358170.6, OTTHUMT00000088588
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  2. NM_153826.3NP_722548.1  membrane cofactor protein isoform 4 precursor

    See identical proteins and their annotated locations for NP_722548.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (d) lacks an alternate in-frame exon and an exon containing the stop codon as compared to variant a. The resulting isoform (4) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI589224, BC030594, DB078198
    Consensus CDS
    CCDS1480.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000346912.1, OTTHUMP00000034622, ENST00000354848.5, OTTHUMT00000088683
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  3. NM_172350.2NP_758860.1  membrane cofactor protein isoform 14 precursor

    See identical proteins and their annotated locations for NP_758860.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (n) lacks three alternate in-frame exons as well as an alternate segment compared to variant a, which causes a frameshift. The resulting isoform (14) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI589224, BC030594, D84105, DB078198
    Consensus CDS
    CCDS1479.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000314664.5, OTTHUMP00000034623, ENST00000322918.9, OTTHUMT00000088684
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  4. NM_172351.2NP_758861.1  membrane cofactor protein isoform 3 precursor

    See identical proteins and their annotated locations for NP_758861.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (c) lacks an alternate in-frame exon compared to variant a, resulting in a shorter isoform (3) compared to isoform 1.
    Source sequence(s)
    AI589224, DB078198, X59405
    Consensus CDS
    CCDS31008.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000356009.1, OTTHUMP00000034624, ENST00000367042.5, OTTHUMT00000088685
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  5. NM_172352.2NP_758862.1  membrane cofactor protein isoform 5 precursor

    See identical proteins and their annotated locations for NP_758862.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (e) lacks an alternate in-frame segment compared to variant a, resulting in a shorter isoform (5) compared to isoform 1.
    Source sequence(s)
    AI589224, BC030594, DB078198, X59406
    Consensus CDS
    CCDS31009.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000356008.1, OTTHUMP00000034625, ENST00000367041.5, OTTHUMT00000088686
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  6. NM_172353.2NP_758863.1  membrane cofactor protein isoform 6 precursor

    See identical proteins and their annotated locations for NP_758863.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (f) lacks an alternate in-frame exon and an exon containing the stop codon compared to variant a. The resulting isoform (6) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI589224, BC030594, DB078198, X59407
    Consensus CDS
    CCDS1481.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000350346.1, OTTHUMP00000034626, ENST00000357714.5, OTTHUMT00000088687
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  7. NM_172359.2NP_758869.1  membrane cofactor protein isoform 2 precursor

    See identical proteins and their annotated locations for NP_758869.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (b) lacks an alternate exon containing the stop codon compared to variant a. The resulting isoform (2) is longer and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI589224, AK222822, BC030594, DB078198, X59410
    Consensus CDS
    CCDS1482.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000313875.4, OTTHUMP00000034706, ENST00000322875.8, OTTHUMT00000088893
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  8. NM_172361.2NP_758871.1  membrane cofactor protein isoform 12 precursor

    See identical proteins and their annotated locations for NP_758871.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (l) lacks an alternate in-frame segment and an exon containing the stop codon as compared to variant a. The resulting isoform (12) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AI589224, BC030594, DB078198, EF076057
    Consensus CDS
    CCDS1484.1
    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000353342.2, OTTHUMP00000216786, ENST00000360212.6, OTTHUMT00000357800
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

    Range
    207752038..207795516
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001308.1XP_016856797.1  membrane cofactor protein isoform X2

    UniProtKB/Swiss-Prot
    P15529
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  2. XM_011509563.1XP_011507865.1  membrane cofactor protein isoform X1

    See identical proteins and their annotated locations for XP_011507865.1

    UniProtKB/Swiss-Prot
    P15529
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  3. XM_017001309.1XP_016856798.1  membrane cofactor protein isoform X4

    UniProtKB/Swiss-Prot
    P15529
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  4. XM_011509564.1XP_011507866.1  membrane cofactor protein isoform X3

    See identical proteins and their annotated locations for XP_011507866.1

    UniProtKB/Swiss-Prot
    P15529
    Related
    ENSP00000418471.1, OTTHUMP00000216787, ENST00000480003.5, OTTHUMT00000357801
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
  5. XM_017001310.1XP_016856799.1  membrane cofactor protein isoform X5

    UniProtKB/Swiss-Prot
    P15529
    Conserved Domains (2) summary
    cd00033
    Location:99158
    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:3588
    CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)

RNA

  1. XR_001737177.1 RNA Sequence

  2. XR_001737178.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    209197783..209241259
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_172354.1: Suppressed sequence

    Description
    NM_172354.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  2. NM_172355.1: Suppressed sequence

    Description
    NM_172355.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_172356.1: Suppressed sequence

    Description
    NM_172356.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  4. NM_172357.1: Suppressed sequence

    Description
    NM_172357.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  5. NM_172358.1: Suppressed sequence

    Description
    NM_172358.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  6. NM_172360.1: Suppressed sequence

    Description
    NM_172360.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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