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CD109 CD109 molecule [ Homo sapiens (human) ]

Gene ID: 135228, updated on 24-Nov-2020

Summary

Official Symbol
CD109provided by HGNC
Official Full Name
CD109 moleculeprovided by HGNC
Primary source
HGNC:HGNC:21685
See related
Ensembl:ENSG00000156535 MIM:608859
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]
Expression
Broad expression in skin (RPKM 9.8), endometrium (RPKM 7.6) and 21 other tissues See more
Orthologs

Genomic context

See CD109 in Genome Data Viewer
Location:
6q13
Exon count:
33
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (73696203..73828313)
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 solute carrier family 17 member 5 Neighboring gene ribosomal protein S27 pseudogene 15 Neighboring gene uncharacterized LOC101928489 Neighboring gene Sharpr-MPRA regulatory region 9272 Neighboring gene uncharacterized LOC101928516 Neighboring gene thioredoxin pseudogene 7 Neighboring gene family with sequence similarity 136 member A pseudogene

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
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
GeneReviews: Not available
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
platelet degranulation TAS
Traceable Author Statement
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 HDA PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
platelet alpha granule membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5419..137529
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001159587.3NP_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, BX107999, BX646244, CB529476, CB853216
    Consensus CDS
    CCDS55038.1
    UniProtKB/Swiss-Prot
    Q6YHK3
    Related
    ENSP00000388062.2, ENST00000437994.6
    Conserved Domains (7) 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:470596
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
  2. NM_001159588.3NP_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, BX107999, BX641095, BX646244, CB529476, CB853216
    Consensus CDS
    CCDS55039.1
    UniProtKB/Swiss-Prot
    Q6YHK3
    Related
    ENSP00000404475.2, ENST00000422508.6
    Conserved Domains (6) 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
    pfam07677
    Location:12341318
    A2M_recep; A-macroglobulin receptor
    pfam07678
    Location:8821119
    A2M_comp; A-macroglobulin complement component
    pfam07703
    Location:393519
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region
    cl19929
    Location:87144
    A2M_N; MG2 domain
  3. NM_133493.5NP_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, BX107999, BX646244, CB529476, CB853216
    Consensus CDS
    CCDS4982.1
    UniProtKB/Swiss-Prot
    Q6YHK3
    Related
    ENSP00000287097.4, ENST00000287097.6
    Conserved Domains (7) 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:470596
    A2M_N_2; Alpha-2-macroglobulin family N-terminal region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    73696203..73828313
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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