Q6YHK3 (CD109_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 76.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: CD109 antigen Alternative name(s): 150 kDa TGF-beta-1-binding protein C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7 Platelet-specific Gov antigen p180 r150 CD_antigen=CD109 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1445 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Modulates negatively TGFB1 signaling in keratinocytes. Ref.3 |
| Subunit structure | Heterodimer; disulfide-linked. Interacts with TGFB1 and TGFBR1. Forms a heteromeric complex with TGFBR1, TGFBR2 and TGFBR3 in a ligand-independent manner. Ref.3 |
| Subcellular location | |
| Tissue specificity | Widely expressed with high level in uterus, aorta, heart, lung, trachea, placenta and in fetal heart, kidney, liver, spleen and lung. Expressed by CD34+ acute myeloid leukemia cell lines, T-cell lines, activated T-lymphoblasts, endothelial cells and activated platelets. Isoform 5 is expressed in placenta. Isoform 1 is expressed in keratinocytes and placenta. Ref.1 Ref.2 Ref.3 |
| Post-translational modification | N-glycosylated. Ref.9 2 forms of 150 (p150) and 120 kDa (p120) exist due to proteolytic degradation from a 180 kDa form. |
| Polymorphism | The Gov(b) variant in position 703 defines the Gov alloantigenic determinants. |
| Sequence similarities | Belongs to the protease inhibitor I39 (alpha-2-macroglobulin) family. [View classification] |
| Sequence caution | The sequence BAG53987.1 differs from that shown. Reason: Erroneous initiation. The sequence CAE46045.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence CAE46045.1 differs from that shown. Reason: Frameshift at position 1282. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Bait region Signal |
| Molecular function | Protease inhibitor Serine protease inhibitor |
| PTM | Disulfide bond GPI-anchor Glycoprotein Lipoprotein Thioester bond |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | negative regulation of endopeptidase activity Inferred from electronic annotation. Source: GOC |
| Cellular_component | anchored to membrane Inferred from electronic annotation. Source: UniProtKB-KW extracellular spaceInferred from electronic annotation. Source: InterPro plasma membraneInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular_function | serine-type endopeptidase inhibitor activity Inferred from electronic annotation. Source: UniProtKB-KW |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6YHK3-1) Also known as: CD109 180-kDa; This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q6YHK3-2) The sequence of this isoform differs from the canonical sequence as follows: 93-169: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q6YHK3-3) The sequence of this isoform differs from the canonical sequence as follows: 658-665: AEYAERFM → LFGTQEAL 666-1445: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 4 (identifier: Q6YHK3-4) Also known as: CD109S; The sequence of this isoform differs from the canonical sequence as follows: 1218-1234: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 21 | 21 | Ref.2 | ||||||||
| Chain | 22 – 1420 | 1399 | CD109 antigen | PRO_0000255945 | |||||||
| Propeptide | 1421 – 1445 | 25 | Removed in mature form Potential | PRO_0000255946 | |||||||
Regions | |||||||||||
| Region | 593 – 702 | 110 | Bait region (approximate) By similarity | ||||||||
Amino acid modifications | |||||||||||
| Lipidation | 1420 | 1 | GPI-anchor amidated alanine Potential | ||||||||
| Glycosylation | 68 | 1 | N-linked (GlcNAc...) Ref.10 Ref.13 | ||||||||
| Glycosylation | 118 | 1 | N-linked (GlcNAc...) Ref.10 Ref.13 | ||||||||
| Glycosylation | 247 | 1 | N-linked (GlcNAc...) Ref.10 Ref.11 | ||||||||
| Glycosylation | 279 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 365 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 419 | 1 | N-linked (GlcNAc...) Ref.10 Ref.12 | ||||||||
| Glycosylation | 645 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1086 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Cross-link | 921 ↔ 924 | Isoglutamyl cysteine thioester (Cys-Gln) By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 93 – 169 | 77 | Missing in isoform 2. | VSP_021312 | |||||||
| Alternative sequence | 658 – 665 | 8 | AEYAERFM → LFGTQEAL in isoform 3. | VSP_021313 | |||||||
| Alternative sequence | 666 – 1445 | 780 | Missing in isoform 3. | VSP_021314 | |||||||
| Alternative sequence | 1218 – 1234 | 17 | Missing in isoform 4. | VSP_021315 | |||||||
| Natural variant | 45 | 1 | G → V. Corresponds to variant rs9446983 [ dbSNP | Ensembl ]. | VAR_028875 | |||||||
| Natural variant | 377 | 1 | G → D. Corresponds to variant rs7741152 [ dbSNP | Ensembl ]. | VAR_048105 | |||||||
| Natural variant | 641 | 1 | L → F. Corresponds to variant rs7742662 [ dbSNP | Ensembl ]. | VAR_048106 | |||||||
| Natural variant | 703 | 1 | Y → S in allele Gov(b). Ref.2 Ref.3 Ref.4 Ref.5 Ref.8 Corresponds to variant rs10455097 [ dbSNP | Ensembl ]. | VAR_028876 | |||||||
| Natural variant | 797 | 1 | N → S. Ref.2 Ref.3 Ref.4 Ref.5 Corresponds to variant rs2351528 [ dbSNP | Ensembl ]. | VAR_028877 | |||||||
| Natural variant | 845 | 1 | V → I. Ref.2 Ref.3 Ref.4 Ref.5 Corresponds to variant rs5023688 [ dbSNP | Ensembl ]. | VAR_028878 | |||||||
| Natural variant | 1007 | 1 | Q → E in a colorectal cancer sample; somatic mutation. Ref.15 | VAR_036236 | |||||||
| Natural variant | 1009 | 1 | V → M. Corresponds to variant rs35630075 [ dbSNP | Ensembl ]. | VAR_048107 | |||||||
| Natural variant | 1065 | 1 | N → K in a colorectal cancer sample; somatic mutation. Ref.15 | VAR_036237 | |||||||
| Natural variant | 1241 | 1 | T → M. Ref.1 Ref.5 Corresponds to variant rs2917862 [ dbSNP | Ensembl ]. | VAR_028879 | |||||||
| Natural variant | 1296 | 1 | H → R. Corresponds to variant rs13207595 [ dbSNP | Ensembl ]. | VAR_048108 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 627 | 1 | M → I in AAN78483. Ref.2 | ||||||||
| Sequence conflict | 789 | 1 | K → E in BAG36395. Ref.4 | ||||||||
| Sequence conflict | 803 | 1 | G → S in AAN78483. Ref.2 | ||||||||
| Sequence conflict | 1046 | 1 | V → A in ABQ66266. Ref.5 | ||||||||
| Sequence conflict | 1418 | 1 | D → N in BAG53987. Ref.4 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cell surface antigen CD109 is a novel member of the alpha(2) macroglobulin/C3, C4, C5 family of thioester-containing proteins." Lin M., Sutherland D.R., Horsfall W., Totty N., Yeo E., Nayar R., Wu X.-F., Schuh A.C. Blood 99:1683-1691(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 86-98; 127-137; 170-183; 185-196; 355-374; 413-425; 444-451; 465-471; 478-491; 494-510; 573-589; 649-655; 666-672; 677-683; 698-709 AND 791-806, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT MET-1241. |
| [2] | "CD109 represents a novel branch of the alpha2-macroglobulin/complement gene family." Solomon K.R., Sharma P., Chan M., Morrison P.T., Finberg R.W. Gene 327:171-183(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 22-50 (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS SER-703; SER-797 AND ILE-845. |
| [3] | "Identification of CD109 as part of the TGF-beta receptor system in human keratinocytes." Finnson K.W., Tam B.Y.Y., Liu K., Marcoux A., Lepage P., Roy S., Bizet A.A., Philip A. FASEB J. 20:1525-1527(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), PROTEIN SEQUENCE OF 173-191, FUNCTION, INTERACTION WITH TGFB1 AND TGFBR1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PROTEOLYTIC CLEAVAGE, VARIANTS SER-703; SER-797 AND ILE-845. Tissue: Placenta. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANTS SER-703; SER-797 AND ILE-845. Tissue: Chondrocyte, Trachea and Vascular endothelial cell. |
| [5] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS SER-703; SER-797; ILE-845 AND MET-1241. Tissue: Colon endothelium. |
| [6] | "The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. Beck S.Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "CD109 defines an ancient branch of the alpha2M/C3, C4, C5 family." Prosper J.Y.A., Wu X.-F., Sutherland D.R., Irwin D.M., Schuh A.C. Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 370-444 AND 922-959. |
| [8] | "A tyrosine703serine polymorphism of CD109 defines the Gov platelet alloantigens." Schuh A.C., Watkins N.A., Nguyen Q., Harmer N.J., Lin M., Prosper J.Y.A., Campbell K., Sutherland D.R., Metcalfe P., Horsfall W., Ouwehand W.H. Blood 99:1692-1698(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 703-741, VARIANT GOV(B) SER-703. |
| [9] | "Identification of a cell-surface antigen associated with activated T lymphoblasts and activated platelets." Sutherland D.R., Yeo E., Ryan A., Mills G.B., Bailey D., Baker M.A. Blood 77:84-93(1991) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEOLYTIC CLEAVAGE, GLYCOSYLATION. |
| [10] | "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry." Liu T., Qian W.-J., Gritsenko M.A., Camp D.G. II, Monroe M.E., Moore R.J., Smith R.D. J. Proteome Res. 4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-68; ASN-118; ASN-247 AND ASN-419, MASS SPECTROMETRY. Tissue: Plasma. |
| [11] | "Elucidation of N-glycosylation sites on human platelet proteins: a glycoproteomic approach." Lewandrowski U., Moebius J., Walter U., Sickmann A. Mol. Cell. Proteomics 5:226-233(2006) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-247, MASS SPECTROMETRY. Tissue: Platelet. |
| [12] | "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry." Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H. J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-419, MASS SPECTROMETRY. Tissue: Liver. |
| [13] | "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins." Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D. Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract] Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-68 AND ASN-118, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [14] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [15] | "The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. Velculescu V.E.Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLU-1007 AND LYS-1065. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF410459 mRNA. Translation: AAL84159.1. AY149920 mRNA. Translation: AAN78483.1. AY788891 mRNA. Translation: AAX14639.1. AK095888 mRNA. Translation: BAC04642.1. AK123960 mRNA. Translation: BAG53987.1. Different initiation. AK313636 mRNA. Translation: BAG36395.1. AL834478 mRNA. Translation: CAD39137.1. BX641095 mRNA. Translation: CAE46045.1. Sequence problems. EF553520 mRNA. Translation: ABQ66266.1. AL590428, AL591480 Genomic DNA. Translation: CAI15636.1. AY736555 Genomic DNA. Translation: AAU94642.1. AY736557 Genomic DNA. Translation: AAU94644.1. AF410460 Genomic DNA. Translation: AAL84160.1. |
| IPI | IPI00152540. IPI00788676. IPI00795327. IPI00795801. |
| RefSeq | NP_001153059.1. NM_001159587.1. NP_001153060.1. NM_001159588.1. NP_598000.2. NM_133493.3. |
| UniGene | Hs.399891. |
3D structure databases | |
| HSSP | HSSP built from PDB template 2A73 based on UniProtKB P01024. |
| ProteinModelPortal | Q6YHK3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q6YHK3. 1 interaction. |
Protein family/group databases | |
| MEROPS | I39.006. |
PTM databases | |
| PhosphoSite | Q6YHK3. |
Polymorphism databases | |
| DMDM | 117949389. |
Proteomic databases | |
| PaxDb | Q6YHK3. |
| PRIDE | Q6YHK3. |
Protocols and materials databases | |
| DNASU | 135228. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000287097; ENSP00000287097; ENSG00000156535. ENST00000422508; ENSP00000404475; ENSG00000156535. ENST00000437994; ENSP00000388062; ENSG00000156535. |
| GeneID | 135228. |
| KEGG | hsa:135228. |
| UCSC | uc003php.3. human. uc003phq.3. human. uc010kba.3. human. |
Organism-specific databases | |
| CTD | 135228. |
| GeneCards | GC06P074462. |
| H-InvDB | HIX0006012. |
| HGNC | HGNC:21685. CD109. |
| HPA | HPA009292. HPA015113. |
| MIM | 608859. gene. |
| neXtProt | NX_Q6YHK3. |
| PharmGKB | PA134949237. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2373. |
| HOVERGEN | HBG097839. |
| InParanoid | Q6YHK3. |
| KO | K06530. |
| OMA | KPYKTSL. |
| OrthoDB | EOG4548XZ. |
| PhylomeDB | Q6YHK3. |
Gene expression databases | |
| ArrayExpress | Q6YHK3. |
| Bgee | Q6YHK3. |
| Genevestigator | Q6YHK3. |
| GermOnline | ENSG00000156535. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.40.690. 1 hit. |
| InterPro | IPR009048. A-macroglobulin_rcpt-bd. IPR011626. A2M_comp. IPR002890. A2M_N. IPR011625. A2M_N_2. IPR001599. Macroglobln_a2. IPR019742. MacrogloblnA2_CS. IPR019565. MacrogloblnA2_thiol-ester-bond. IPR008930. Terpenoid_cyclase/PrenylTrfase. [Graphical view] |
| Pfam | PF00207. A2M. 1 hit. PF07678. A2M_comp. 1 hit. PF01835. A2M_N. 1 hit. PF07703. A2M_N_2. 1 hit. PF07677. A2M_recep. 1 hit. PF10569. Thiol-ester_cl. 1 hit. [Graphical view] |
| SUPFAM | SSF49410. AM_receptor_bind. 1 hit. SSF48239. Terp_cyc_toroid. 1 hit. |
| PROSITE | PS00477. ALPHA_2_MACROGLOBULIN. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | CD109. human. |
| GenomeRNAi | 135228. |
| NextBio | 83469. |
| SOURCE | Search... |
Entry information
| Entry name | CD109_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6YHK3 Secondary accession number(s): A5YKK4 Q8TDJ3 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human cell differentiation molecules CD nomenclature of surface proteins of human leucocytes and list of entries |
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
