Q6UX39 (AMTN_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 62.
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: Amelotin | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 209 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 | Could be a cell adhesion protein involved in the maturation of tooth enamel. |
| Subcellular location | Secreted Probable. |
| Post-translational modification | O-glycosylated By similarity. |
| Sequence similarities | Belongs to the amelotin family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Biomineralization Cell adhesion |
| Cellular component | Secreted |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Signal |
| PTM | Glycoprotein |
| Technical term | Complete proteome Direct protein sequencing Reference proteome |
| Gene Ontology (GO) | |
| Biological process | biomineral tissue development Inferred from electronic annotation. Source: UniProtKB-KW cell adhesionInferred from electronic annotation. Source: UniProtKB-KW odontogenesis of dentin-containing toothInferred from sequence or structural similarity. Source: HGNC |
| Cellular component | basal lamina Inferred from sequence or structural similarity. Source: HGNC cell-cell junctionInferred from sequence or structural similarity. Source: HGNC |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6UX39-1) 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 2 (identifier: Q6UX39-2) The sequence of this isoform differs from the canonical sequence as follows: 19-19: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 16 | 16 | Ref.3 | ||||||
| Chain | 17 – 209 | 193 | Amelotin | PRO_0000022613 | |||||
Natural variations | |||||||||
| Alternative sequence | 19 | 1 | Missing in isoform 2. | VSP_023919 | |||||
| Natural variant | 45 | 1 | N → S. Corresponds to variant rs7660807 [ dbSNP | Ensembl ]. | VAR_050661 | |||||
| Natural variant | 50 | 1 | S → P. Corresponds to variant rs34803339 [ dbSNP | Ensembl ]. | VAR_050662 | |||||
| Natural variant | 78 | 1 | G → S in a colorectal cancer sample; somatic mutation. Ref.4 | VAR_035791 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. Gray A.M.Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). |
| [3] | "Signal peptide prediction based on analysis of experimentally verified cleavage sites." Zhang Z., Henzel W.J. Protein Sci. 13:2819-2824(2004) [PubMed: 15340161] [Abstract] Cited for: PROTEIN SEQUENCE OF 17-31. |
| [4] | "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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] SER-78. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY358528 mRNA. Translation: AAQ88892.1. BC121812 mRNA. Translation: AAI21813.1. BC121817 mRNA. Translation: AAI21818.1. |
| IPI | IPI00401058. IPI00830012. |
| RefSeq | NP_997722.1. NM_212557.2. |
| UniGene | Hs.453069. |
3D structure databases | |
| ProteinModelPortal | Q6UX39. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q6UX39. |
Polymorphism databases | |
| DMDM | 55976710. |
Proteomic databases | |
| PRIDE | Q6UX39. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000339336; ENSP00000341013; ENSG00000187689. |
| GeneID | 401138. |
| KEGG | hsa:401138. |
| NMPDR | fig|9606.3.peg.24210. |
| UCSC | uc003hfk.1. human. uc010ihy.1. human. |
Organism-specific databases | |
| CTD | 401138. |
| GeneCards | GC04P071419. |
| H-InvDB | HIX0031413. |
| HGNC | HGNC:33188. AMTN. |
| HPA | HPA036137. |
| MIM | 610912. gene. |
| neXtProt | NX_Q6UX39. |
| PharmGKB | PA162376390. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG16581. |
| GeneTree | ENSGT00390000006715. |
| HOGENOM | HBG126577. |
| HOVERGEN | HBG080837. |
| InParanoid | Q6UX39. |
| OMA | CLLGSTQ. |
| OrthoDB | EOG42RD8P. |
| PhylomeDB | Q6UX39. |
Gene expression databases | |
| Bgee | Q6UX39. |
| CleanEx | HS_AMTN. |
| Genevestigator | Q6UX39. |
Family and domain databases | |
| ProtoNet | Search... |
Other | |
| NextBio | 106549. |
| SOURCE | Search... |
Entry information
| Entry name | AMTN_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6UX39 Secondary accession number(s): Q0P503, Q0P506 | ||||||||
| Entry history |
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| 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 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 |

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