Reviewed,
UniProtKB/Swiss-Prot Q99217 (AMELX_HUMAN)
Last modified
November 24, 2009.
Version 98.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Amelogenin, X isoform | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Complete 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 | 191 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 | Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel. |
| Subcellular location | |
| Developmental stage | Transiently but abundantly expressed by ameloblasts during tooth development. Amelogenin is the predominant protein in developing dental enamel. |
| Involvement in disease | Defects in AMELX are the cause of amelogenesis imperfecta hypoplastic type 1 (AIH1) [MIM:301200]. AIH1 is a X-linked defect of dental enamel formation. Teeth have only a thin layer of enamel with normal hardness. The thinness of the enamel makes the teeth appear small. Ref.9 Ref.10 Ref.11 Ref.12 Ref.13 |
| Miscellaneous | This isoform is encoded on the X chromosome. |
| Sequence similarities | Belongs to the amelogenin family. |
Ontologies
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: Q99217-1) 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: Q99217-2) The sequence of this isoform differs from the canonical sequence as follows: 19-34: Missing. | ||||||
| Isoform 3 (identifier: Q99217-3) Also known as: Rare; The sequence of this isoform differs from the canonical sequence as follows: 34-34: E → ENSHSQAINVDRTAL |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 16 | 16 | Ref.5 | ||||||
| Chain | 17 – 191 | 175 | Amelogenin, X isoform | PRO_0000001199 | |||||
Amino acid modifications | |||||||||
| Modified residue | 32 | 1 | Phosphoserine By similarity | ||||||
Natural variations | |||||||||
| Alternative sequence | 19 – 34 | 16 | Missing in isoform 2. | VSP_000228 | |||||
| Alternative sequence | 34 | 1 | E → ENSHSQAINVDRTAL in isoform 3. | VSP_000229 | |||||
| Natural variant | 4 | 1 | W → S in AIH1. Ref.13 | VAR_037581 | |||||
| Natural variant | 5 – 8 | 4 | ILFA → T in AIH1. | VAR_000559 | |||||
| Natural variant | 37 | 1 | T → I in AIH1. Ref.10 | VAR_037582 | |||||
| Natural variant | 56 | 1 | P → T in AIH1. Ref.11 Ref.12 | VAR_037583 | |||||
Experimental info | |||||||||
| Sequence conflict | 50 – 51 | 2 | PS → SP AA sequence Ref.5 | ||||||
| Sequence conflict | 173 | 1 | D → H AA sequence Ref.8 | ||||||
| Sequence conflict | 191 | 1 | D → VSIF in AAA62826. Ref.7 | ||||||
| Sequence conflict | 191 | 1 | D → VSIF in CAA32613. Ref.7 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes." Salido E.C., Yen P.H., Koprivnikar K., Yu L.-C., Shapiro L.J. Am. J. Hum. Genet. 50:303-316(1992) [PubMed: 1734713] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Tooth bud. |
| [2] | "A nomenclature for X-linked amelogenesis imperfecta." Hart P.S., Hart T.C., Simmer J.P., Wright J.T. Arch. Oral Biol. 47:255-260(2002) [PubMed: 11922868] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3). |
| [3] | "The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. Bentley D.R.Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "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] (ISOFORM 1). |
| [5] | "Human amelogenins: sequences of 'TRAP' molecules." Fincham A.G., Hu Y., Pavlova Z., Slavkin H.C., Snead M.L. Calcif. Tissue Int. 45:243-250(1989) [PubMed: 2509010] [Abstract] Cited for: PROTEIN SEQUENCE OF 17-60. |
| [6] | "Production of a monoclonal antibody against human amelogenin." Catalano-Sherman J., Laskov R., Palmon A., David S., Deutsch D. Calcif. Tissue Int. 54:76-80(1994) [PubMed: 8118759] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 17-37. |
| [7] | "A human X-Y homologous region encodes 'amelogenin'." Nakahori Y., Takenaka O., Nakagome Y. Genomics 9:264-269(1991) [PubMed: 2004775] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 19-191 (ISOFORM 1). |
| [8] | "Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing." Catalano-Sherman J., Palmon A., Burstein Y., Deutsch D. J. Dent. Res. 72:1566-1572(1993) [PubMed: 8254123] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 49-190, PARTIAL PROTEIN SEQUENCE. Tissue: Tooth bud. |
| [9] | "Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta." Lagerstroem-Fermer M., Nilddon M., Baeckman B., Salido E., Shapiro L., Pettersson U., Landergren U. Genomics 26:159-162(1995) [PubMed: 7782077] [Abstract] Cited for: VARIANT AIH1 5-ILE--ALA-8 DELINS THR. |
| [10] | "Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1)." Lench N.J., Winter G.B. Hum. Mutat. 5:251-259(1995) [PubMed: 7599636] [Abstract] Cited for: VARIANT AIH1 ILE-37. |
| [11] | "Mutational analysis of X-linked amelogenesis imperfecta in multiple families." Hart S., Hart T., Gibson C., Wright J.T. Arch. Oral Biol. 45:79-86(2000) [PubMed: 10669095] [Abstract] Cited for: VARIANT AIH1 THR-56. |
| [12] | "An amelogenin gene defect associated with human X-linked amelogenesis imperfecta." Collier P.M., Sauk J.J., Rosenbloom S.J., Yuan Z.A., Gibson C.W. Arch. Oral Biol. 42:235-242(1997) [PubMed: 9188994] [Abstract] Cited for: VARIANT AIH1 THR-56. |
| [13] | "Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta." Kim J.-W., Simmer J.P., Hu Y.Y., Lin B.P.-L., Boyd C., Wright J.T., Yamada C.J.M., Rayes S.K., Feigal R.J., Hu J.C.-C. J. Dent. Res. 83:378-383(2004) [PubMed: 15111628] [Abstract] Cited for: VARIANT AIH1 SER-4. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| M86932 mRNA. Translation: AAA51717.1. AF436849 mRNA. Translation: AAL30432.1. AY040206 Genomic DNA. Translation: AAK77213.1. AC002366 Genomic DNA. Translation: AAC21581.1. BC074951 mRNA. Translation: AAH74951.1. M55418 Genomic DNA. Translation: AAA62826.1. X14440 Genomic DNA. Translation: CAA32613.1. S67147 mRNA. Translation: AAB29184.1. | |
| IPI | IPI00013959. IPI00220033. IPI00220034. |
| PIR | A41816. B41816. |
| RefSeq | NP_001133.1. NP_872621.1. NP_872622.1. |
| UniGene | Hs.654436 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | Q99217. |
Proteomic databases | |
| PRIDE | Q99217. |
Genome annotation databases | |
| Ensembl | ENST00000380714; ENSP00000370090; ENSG00000125363; Homo sapiens. [Genome view] |
| GeneID | 265. |
| KEGG | hsa:265. |
| UCSC | uc004cus.1. human. uc004cut.1. human. uc004cuu.1. human. |
Organism-specific databases | |
| CTD | 265. |
| GeneCards | GC0XP011221. |
| H-InvDB | HIX0056174. |
| HGNC | HGNC:461. AMELX. |
| HPA | HPA005988. |
| MIM | 300391. gene. 301200. phenotype. |
| Orphanet | 88661. Amelogenesis imperfecta. 100033. Amelogenesis imperfecta, hypomaturation type. |
| PharmGKB | PA24766. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOVERGEN | Q99217. |
| OMA | WYQNMIR. |
Gene expression databases | |
| ArrayExpress | Q99217. |
| Bgee | Q99217. |
| CleanEx | HS_AMELX. |
| Genevestigator | Q99217. |
| GermOnline | ENSG00000125363. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004116. Amelogenin. [Graphical view] |
| Pfam | PF02948. Amelogenin. 1 hit. [Graphical view] |
| PRINTS | PR01757. AMELOGENIN. |
| SMART | SM00818. Amelogenin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 1037. |
| PMAP-CutDB | Q99217. |
| SOURCE | Search... |
Entry information
| Entry name | AMELX_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q99217 Secondary accession number(s): Q96NW6, Q9UCA7 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
| 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 X Human chromosome X: 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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