Q9UKF5 (ADA29_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 121.
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: Disintegrin and metalloproteinase domain-containing protein 29 Short name=ADAM 29 Alternative name(s): Cancer/testis antigen 73 Short name=CT73 | ||
| 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 | 820 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 | May be involved in spermatogenesis and fertilization. Seems to be a non catalytic metalloprotease-like protein. |
| Subcellular location | |
| Tissue specificity | Expressed specifically in testes. |
| Involvement in disease | Has been found to be frequently mutated in melanoma. ADAM7 mutations may play a role in melanoma progression and metastasis. |
| Sequence similarities | Contains 1 disintegrin domain. Contains 1 EGF-like domain. Contains 1 peptidase M12B domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | EGF-like domain Repeat Signal Transmembrane Transmembrane helix |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | proteolysis Inferred from electronic annotation. Source: InterPro spermatogenesisTraceable author statement Ref.1. Source: ProtInc |
| Cellular_component | integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc |
| Molecular_function | metalloendopeptidase activity Inferred from electronic annotation. Source: InterPro metallopeptidase activityTraceable author statement Ref.1. Source: ProtInc zinc ion bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Alpha (identifier: Q9UKF5-1) 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 Beta (identifier: Q9UKF5-2) The sequence of this isoform differs from the canonical sequence as follows: 750-803: Missing. | ||||||
| Isoform Gamma (identifier: Q9UKF5-3) The sequence of this isoform differs from the canonical sequence as follows: 763-787: VTPSQSQPRVMPSQSQPPVMPSQSH → QNLFLFSFSISDCVLNFRLLYLQAT 788-820: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 18 | 18 | Potential | ||||||||
| Propeptide | 19 – 193 | 175 | By similarity | PRO_0000029134 | |||||||
| Chain | 194 – 820 | 627 | Disintegrin and metalloproteinase domain-containing protein 29 | PRO_0000029135 | |||||||
Regions | |||||||||||
| Topological domain | 194 – 674 | 481 | Extracellular Potential | ||||||||
| Transmembrane | 675 – 695 | 21 | Helical; Potential | ||||||||
| Topological domain | 696 – 820 | 125 | Cytoplasmic Potential | ||||||||
| Domain | 198 – 390 | 193 | Peptidase M12B | ||||||||
| Domain | 397 – 483 | 87 | Disintegrin | ||||||||
| Domain | 625 – 654 | 30 | EGF-like | ||||||||
| Repeat | 739 – 747 | 9 | 1 | ||||||||
| Repeat | 748 – 756 | 9 | 2 | ||||||||
| Repeat | 757 – 765 | 9 | 3 | ||||||||
| Repeat | 766 – 774 | 9 | 4 | ||||||||
| Repeat | 775 – 783 | 9 | 5 | ||||||||
| Repeat | 784 – 792 | 9 | 6 | ||||||||
| Repeat | 793 – 801 | 9 | 7 | ||||||||
| Repeat | 802 – 810 | 9 | 8 | ||||||||
| Repeat | 811 – 819 | 9 | 9 | ||||||||
| Region | 739 – 819 | 81 | 9 X 9 AA approximate repeats | ||||||||
| Compositional bias | 484 – 624 | 141 | Cys-rich | ||||||||
| Compositional bias | 669 – 675 | 7 | Poly-Lys | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 217 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 320 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 368 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 428 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 469 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 538 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 545 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 558 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 564 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 307 ↔ 384 | By similarity | |||||||||
| Disulfide bond | 347 ↔ 369 | By similarity | |||||||||
| Disulfide bond | 349 ↔ 354 | By similarity | |||||||||
| Disulfide bond | 455 ↔ 475 | By similarity | |||||||||
| Disulfide bond | 625 ↔ 636 | By similarity | |||||||||
| Disulfide bond | 630 ↔ 642 | By similarity | |||||||||
| Disulfide bond | 644 ↔ 653 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 750 – 803 | 54 | Missing in isoform Beta. | VSP_005491 | |||||||
| Alternative sequence | 763 – 787 | 25 | VTPSQ…PSQSH → QNLFLFSFSISDCVLNFRLL YLQAT in isoform Gamma. | VSP_005492 | |||||||
| Alternative sequence | 788 – 820 | 33 | Missing in isoform Gamma. | VSP_005493 | |||||||
| Natural variant | 31 | 1 | P → L in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_036148 | |||||||
| Natural variant | 72 | 1 | L → F in a melanoma cell line. Ref.6 | VAR_066322 | |||||||
| Natural variant | 89 | 1 | I → M in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066323 | |||||||
| Natural variant | 111 | 1 | E → K in a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV. Ref.6 | VAR_066324 | |||||||
| Natural variant | 112 | 1 | S → F in a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV. Ref.6 | VAR_066325 | |||||||
| Natural variant | 115 | 1 | S → F in a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV. Ref.6 | VAR_066326 | |||||||
| Natural variant | 131 | 1 | D → N in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066327 | |||||||
| Natural variant | 176 | 1 | E → K in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066328 | |||||||
| Natural variant | 205 | 1 | V → I in a colorectal cancer sample; somatic mutation. Ref.7 | VAR_036149 | |||||||
| Natural variant | 234 | 1 | S → F in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066329 | |||||||
| Natural variant | 257 | 1 | I → F in a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV. Ref.6 | VAR_066330 | |||||||
| Natural variant | 305 | 1 | G → E in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066331 | |||||||
| Natural variant | 345 | 1 | D → N in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066332 | |||||||
| Natural variant | 403 | 1 | G → D in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066333 | |||||||
| Natural variant | 434 | 1 | G → D in a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV. Ref.6 | VAR_066334 | |||||||
| Natural variant | 503 | 1 | E → K in a cutaneous metastatic melanoma sample; somatic mutation; increases the adhesion of melanoma cells to collagens I and IV. Ref.6 | VAR_066335 | |||||||
| Natural variant | 533 | 1 | H → Y in a cutaneous metastatic melanoma sample; somatic mutation. Ref.6 | VAR_066336 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 196 | 1 | H → Y in AAF22163. Ref.2 | ||||||||
| Sequence conflict | 744 | 1 | P → H in AAF22163. Ref.2 | ||||||||
| Sequence conflict | 748 | 1 | S → Y in AAF22163. Ref.2 | ||||||||
| Sequence conflict | 753 | 1 | Q → R in AAF03777. Ref.1 | ||||||||
| Sequence conflict | 764 | 1 | T → M in AAF03777. Ref.1 | ||||||||
| Sequence conflict | 769 – 773 | 5 | QPRVM → HPQLT in AAF03777. Ref.1 | ||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Isolation of two novel metalloproteinase-disintegrin (ADAM) cDNAs that show testis-specific gene expression." Cerretti D.P., DuBose R.F., Black R.A., Nelson N. Biochem. Biophys. Res. Commun. 263:810-815(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS ALPHA; BETA AND GAMMA). Tissue: Testis. |
| [2] | "Molecular cloning and mapping of a novel ADAM gene (ADAM29) to human chromosome 4." Xu R., Cai J., Xu T., Zhou W., Ying B., Deng K., Zhao S., Li C. Genomics 62:537-539(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA). Tissue: Testis. |
| [3] | "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] (ISOFORM ALPHA). Tissue: Testis. |
| [4] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma." Wei X., Moncada-Pazos A., Cal S., Soria-Valles C., Gartner J., Rudloff U., Lin J.C., Rosenberg S.A., Lopez-Otin C., Samuels Y. Hum. Mutat. 32:E2148-E2175(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CUTANEOUS MELANOMA, VARIANTS PHE-72; MET-89; LYS-111; PHE-112; PHE-115; ASN-131; LYS-176; PHE-234; PHE-257; GLU-305; ASN-345; ASP-403; ASP-434; LYS-503 AND TYR-533, CHARACTERIZATION OF VARIANTS LYS-111; PHE-112; PHE-115; PHE-257; ASP-434 AND LYS-503. |
| [7] | "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] LEU-31 AND ILE-205. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF171929 mRNA. Translation: AAF03777.1. AF171930 mRNA. Translation: AAF03778.1. AF171931 mRNA. Translation: AAF03779.1. AF134708 mRNA. Translation: AAF22163.1. AK292410 mRNA. Translation: BAF85099.1. AC105914 Genomic DNA. Translation: AAY41055.1. CH471056 Genomic DNA. Translation: EAX04727.1. CH471056 Genomic DNA. Translation: EAX04728.1. |
| IPI | IPI00029112. IPI00029113. IPI00289829. |
| RefSeq | NP_001124175.1. NM_001130703.1. NP_001124176.1. NM_001130704.1. NP_001124177.1. NM_001130705.1. NP_055084.3. NM_014269.4. |
| UniGene | Hs.126838. |
3D structure databases | |
| ProteinModelPortal | Q9UKF5. |
| ModBase | Search... |
Protein-protein interaction databases | |
| MINT | MINT-252736. |
| STRING | 9606.ENSP00000352177. |
Protein family/group databases | |
| MEROPS | M12.981. |
PTM databases | |
| PhosphoSite | Q9UKF5. |
Polymorphism databases | |
| DMDM | 145559438. |
Proteomic databases | |
| PaxDb | Q9UKF5. |
| PRIDE | Q9UKF5. |
Protocols and materials databases | |
| DNASU | 11086. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000359240; ENSP00000352177; ENSG00000168594. ENST00000404450; ENSP00000384229; ENSG00000168594. ENST00000445694; ENSP00000414544; ENSG00000168594. ENST00000514159; ENSP00000423517; ENSG00000168594. |
| GeneID | 11086. |
| KEGG | hsa:11086. |
| UCSC | uc003iuc.3. human. |
Organism-specific databases | |
| CTD | 11086. |
| GeneCards | GC04P175751. |
| HGNC | HGNC:207. ADAM29. |
| HPA | HPA014159. |
| MIM | 604778. gene. |
| neXtProt | NX_Q9UKF5. |
| PharmGKB | PA24524. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG297875. |
| HOGENOM | HOG000230883. |
| HOVERGEN | HBG006978. |
| InParanoid | Q9UKF5. |
| KO | K16069. |
| OMA | SCAIVTF. |
| OrthoDB | EOG4XWFX8. |
| PhylomeDB | Q9UKF5. |
Gene expression databases | |
| ArrayExpress | Q9UKF5. |
| Bgee | Q9UKF5. |
| CleanEx | HS_ADAM29. |
| Genevestigator | Q9UKF5. |
| GermOnline | ENSG00000168594. Homo sapiens. |
Family and domain databases | |
| Gene3D | 3.40.390.10. 1 hit. 4.10.70.10. 1 hit. |
| InterPro | IPR006586. ADAM_Cys-rich. IPR001762. Blood-coag_inhib_Disintegrin. IPR018358. Disintegrin_CS. IPR024079. MetalloPept_cat_dom. IPR001590. Peptidase_M12B. IPR002870. Peptidase_M12B_N. [Graphical view] |
| Pfam | PF08516. ADAM_CR. 1 hit. PF00200. Disintegrin. 1 hit. PF01562. Pep_M12B_propep. 1 hit. PF01421. Reprolysin. 1 hit. [Graphical view] |
| PRINTS | PR00289. DISINTEGRIN. |
| SMART | SM00608. ACR. 1 hit. SM00050. DISIN. 1 hit. [Graphical view] |
| SUPFAM | SSF57552. Disintegrin. 1 hit. |
| PROSITE | PS50215. ADAM_MEPRO. 1 hit. PS00427. DISINTEGRIN_1. 1 hit. PS50214. DISINTEGRIN_2. 1 hit. PS00022. EGF_1. False negative. PS01186. EGF_2. False negative. PS50026. EGF_3. False negative. PS00142. ZINC_PROTEASE. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | ADAM29. human. |
| GenomeRNAi | 11086. |
| NextBio | 42152. |
| SOURCE | Search... |
Entry information
| Entry name | ADA29_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UKF5 Secondary accession number(s): Q4W5F3 Q9UKF4 | ||||||||
| 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
| Peptidase families Classification of peptidase families and list of entries |
| Human chromosome 4 Human chromosome 4: 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
