Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    CD109 CD109 molecule [ Homo sapiens (human) ]

    Gene ID: 135228, updated on 24-Aug-2015
    Official Symbol
    CD109provided by HGNC
    Official Full Name
    CD109 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:21685
    See related
    Ensembl:ENSG00000156535; HPRD:10590; MIM:608859; Vega:OTTHUMG00000015040
    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
    p180; r150; CPAMD7
    Summary
    This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
    Orthologs
    See CD109 in Epigenomics, MapViewer
    Location:
    6q13
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (73672182..73828317)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (74405508..74538041)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377857 Neighboring gene solute carrier family 17 (acidic sugar transporter), member 5 Neighboring gene ribosomal protein S27 pseudogene 15 Neighboring gene uncharacterized LOC101928489 Neighboring gene uncharacterized LOC101928516 Neighboring gene family with sequence similarity 136, member A pseudogene Neighboring gene uncharacterized LOC105377858

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
    NHGRI GWA Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD109 PubMed
    Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD109 PubMed

    Go to the HIV-1, Human Interaction Database

    Markers

    Homology

    Clone Names

    • FLJ38569, FLJ41966, DKFZp762L1111

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    serine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    transforming growth factor beta binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of keratinocyte proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of wound healing IDA
    Inferred from Direct Assay
    more info
    PubMed 
    osteoclast fusion IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    anchored component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    CD109 antigen
    Names
    150 kDa TGF-beta-1-binding protein
    C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7
    Gov platelet alloantigens
    activated T-cell marker CD109
    platelet-specific Gov 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_033971.1 RefSeqGene

      Range
      5301..137533
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001159587.2NP_001153059.1  CD109 antigen isoform 2 preproprotein

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF410459, AK095888, AK130104, AL834478, AY788891, BM722643, BP351448, BX107999, BX646244, CB529476, CB853216
      Consensus CDS
      CCDS55038.1
      UniProtKB/Swiss-Prot
      Q6YHK3
      Related
      ENSP00000388062, ENST00000437994
      Conserved Domains (8) summary
      COG2373
      Location:661000
      YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
      cd02897
      Location:9071194
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:693782
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:130221
      A2M_N; MG2 domain
      pfam07677
      Location:12941378
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:9591196
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:468599
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam11974
      Location:15111
      MG1; Alpha-2-macroglobulin MG1 domain
    2. NM_001159588.2NP_001153060.1  CD109 antigen isoform 3 preproprotein

      See identical proteins and their annotated locations for NP_001153060.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AK130104, AL834478, BM722643, BP351448, BX107999, BX641095, BX646244, CB529476, CB853216
      Consensus CDS
      CCDS55039.1
      UniProtKB/Swiss-Prot
      Q6YHK3
      Related
      ENSP00000404475, ENST00000422508
      Conserved Domains (7) summary
      cd02897
      Location:8301117
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:616705
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:93144
      A2M_N; MG2 domain
      pfam07677
      Location:12341318
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:8821119
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:391522
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam11974
      Location:1591
      MG1; Alpha-2-macroglobulin MG1 domain
    3. NM_133493.4NP_598000.2  CD109 antigen isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_598000.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF410459, AK095888, AK130104, AL834478, BM722643, BP279681, BX107999, BX646244, CB529476, CB853216
      Consensus CDS
      CCDS4982.1
      UniProtKB/Swiss-Prot
      Q6YHK3
      Related
      ENSP00000287097, OTTHUMP00000016748, ENST00000287097, OTTHUMT00000041230
      Conserved Domains (8) summary
      COG2373
      Location:661000
      YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
      cd02897
      Location:9071194
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:693782
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:130221
      A2M_N; MG2 domain
      pfam07677
      Location:13111395
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:9591196
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:468599
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam11974
      Location:15111
      MG1; Alpha-2-macroglobulin MG1 domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

      Range
      73672182..73828317
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011535474.1XP_011533776.1  

      Conserved Domains (5) summary
      cd02897
      Location:667954
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:453542
      A2M; Alpha-2-macroglobulin family
      pfam07677
      Location:10711155
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:719956
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:228359
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    2. XM_011535473.1XP_011533775.1  

      Conserved Domains (8) summary
      COG2373
      Location:53987
      YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
      cd02897
      Location:8941181
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:680769
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:117208
      A2M_N; MG2 domain
      pfam07677
      Location:12981382
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:9461183
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:455586
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam11974
      Location:1298
      MG1; Alpha-2-macroglobulin MG1 domain
    3. XM_005248659.2XP_005248716.1  

      See identical proteins and their annotated locations for XP_005248716.1

      UniProtKB/Swiss-Prot
      Q6YHK3
      Conserved Domains (8) summary
      COG2373
      Location:661000
      YfaS; Uncharacterized conserved protein YfaS, alpha-2-macroglobulin family [General function prediction only]
      cd02897
      Location:9071194
      A2M_2; Proteins similar to alpha2-macroglobulin (alpha (2)-M). This group also contains the pregnancy zone protein (PZP). Alpha(2)-M and PZP are broadly specific proteinase inhibitors. Alpha (2)-M is a major carrier protein in serum. The structural thioester ...
      pfam00207
      Location:693782
      A2M; Alpha-2-macroglobulin family
      pfam01835
      Location:130221
      A2M_N; MG2 domain
      pfam07677
      Location:13111395
      A2M_recep; A-macroglobulin receptor
      pfam07678
      Location:9591196
      A2M_comp; A-macroglobulin complement component
      pfam07703
      Location:468599
      A2M_N_2; Alpha-2-macroglobulin family N-terminal region
      pfam11974
      Location:15111
      MG1; Alpha-2-macroglobulin MG1 domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      74572228..74704279
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)