This is the Wikipedia entry entitled "ENAM". More...
The Wikipedia text that you see displayed here is a download from Wikipedia. This means that the information we display is a copy of the information from the Wikipedia database. The button next to the article title ("Edit Wikipedia article") takes you to the edit page for the article directly within Wikipedia. You should be aware you are not editing our local copy of this information. Any changes that you make to the Wikipedia article will not be displayed here until we next download the article from Wikipedia. We currently download new content on a nightly basis.
Does Pfam agree with the content of the Wikipedia entry ?
Pfam has chosen to link families to Wikipedia articles. In some case we have created or edited these articles but in many other cases we have not made any direct contribution to the content of the article. The Wikipedia community does monitor edits to try to ensure that (a) the quality of article annotation increases, and (b) vandalism is very quickly dealt with. However, we would like to emphasise that Pfam does not curate the Wikipedia entries and we cannot guarantee the accuracy of the information on the Wikipedia page.
Editing Wikipedia articles
Before you edit for the first time
Wikipedia is a free, online encyclopedia. Although anyone can edit or contribute to an article, Wikipedia has some strong editing guidelines and policies, which promote the Wikipedia standard of style and etiquette. Your edits and contributions are more likely to be accepted (and remain) if they are in accordance with this policy.
You should take a few minutes to view the following pages:
How your contribution will be recorded
Anyone can edit a Wikipedia entry. You can do this either as a new user or you can register with Wikipedia and log on. When you click on the "Edit Wikipedia article" button, your browser will direct you to the edit page for this entry in Wikipedia. If you are a registered user and currently logged in, your changes will be recorded under your Wikipedia user name. However, if you are not a registered user or are not logged on, your changes will be logged under your computer's IP address. This has two main implications. Firstly, as a registered Wikipedia user your edits are more likely seen as valuable contribution (although all edits are open to community scrutiny regardless). Secondly, if you edit under an IP address you may be sharing this IP address with other users. If your IP address has previously been blocked (due to being flagged as a source of 'vandalism') your edits will also be blocked. You can find more information on this and creating a user account at Wikipedia.
If you have problems editing a particular page, contact us at email@example.com and we will try to help.
The community annotation is a new facility of the Pfam web site. If you have problems editing or experience problems with these pages please contact us.
Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises approximately 5% of total enamel matrix protein.[supplied by OMIM]
- Mardh CK, Backman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K (Apr 2002). "A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)". Hum Mol Genet 11 (9): 1069–74. doi:10.1093/hmg/11.9.1069. PMID 11978766.
- "Entrez Gene: ENAM enamelin".
- Hu, J. C.; Yamakoshi, Y. (2003). "Enamelin and autosomal-dominant amelogenesis imperfecta". Critical reviews in oral biology and medicine : an official publication of the American Association of Oral Biologists 14 (6): 387–398. PMID 14656895.
- Gutierrez SJ, Chaves M, Torres DM, Briceño I (2007). "Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.". Arch. Oral Biol. 52 (5): 503–6. doi:10.1016/j.archoralbio.2006.09.014. PMID 17316551.
- Pavlic A, Petelin M, Battelino T (2007). "Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.". Arch. Oral Biol. 52 (3): 209–17. doi:10.1016/j.archoralbio.2006.10.010. PMID 17125728.
- Ballif BA, n J, Villé Beausoleil SA et al. (2005). "Phosphoproteomic analysis of the developing mouse brain.". Mol. Cell Proteomics 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
- Hart TC, Hart PS, Gorry MC et al. (2004). "Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects". J. Med. Genet. 40 (12): 900–6. doi:10.1136/jmg.40.12.900. PMC 1735344. PMID 14684688.
- Hart PS, Michalec MD, Seow WK et al. (2003). "Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature". Arch. Oral Biol. 48 (8): 589–96. doi:10.1016/S0003-9969(03)00114-6. PMID 12828988.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Kida M, Ariga T, Shirakawa T et al. (2002). "Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary". J. Dent. Res. 81 (11): 738–42. doi:10.1177/154405910208101103. PMID 12407086.
- Rajpar MH, Harley K, Laing C et al. (2001). "Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta". Hum. Mol. Genet. 10 (16): 1673–7. doi:10.1093/hmg/10.16.1673. PMID 11487571.
- Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Dong J, Gu TT, Simmons D, MacDougall M (2001). "Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus". Eur. J. Oral Sci. 108 (5): 353–8. doi:10.1034/j.1600-0722.2000.108005353.x. PMID 11037750.
- Hu CC, Hart TC, Dupont BR et al. (2000). "Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development". J. Dent. Res. 79 (4): 912–9. doi:10.1177/00220345000790040501. PMID 10831092.
- Forsman K, Lind L, Bäckman B et al. (1995). "Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q". Hum. Mol. Genet. 3 (9): 1621–5. doi:10.1093/hmg/3.9.1621. PMID 7833920.
- ENAM human gene location in the UCSC Genome Browser.
- ENAM human gene details in the UCSC Genome Browser.
|This article on a gene on chromosome 4 is a stub. You can help Wikipedia by expanding it.|
This tab holds the annotation information that is stored in the Pfam database. As we move to using Wikipedia as our main source of annotation, the contents of this tab will be gradually replaced by the Wikipedia tab.
Enamelin Provide feedback
ENAMELIN is involved in the mineralisation and structural organisation of enamel. It is necessary for the extension of enamel during the secretory stage of dental enamel formation. The proteins are expressed in teeth, particularly in odontoblasts, ameloblasts and cementoblasts.
Dong J, Gu TT, Simmons D, MacDougall M;, Eur J Oral Sci. 2000;108:353-358.: Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. PUBMED:11037750 EPMC:11037750
Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ;, Hum Mol Genet. 2001;10:1673-1677.: Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. PUBMED:11487571 EPMC:11487571
Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E;, J Med Genet. 2003;40:900-906.: Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. PUBMED:14684688 EPMC:14684688
External database links
This tab holds annotation information from the InterPro database.
No InterPro data for this Pfam family.
- the number of sequences which exhibit this architecture
a textual description of the architecture, e.g. Gla, EGF x 2, Trypsin.
This example describes an architecture with one
Gladomain, followed by two consecutive
EGFdomains, and finally a single
- the UniProt description of the protein sequence
- the number of residues in the sequence
- the Pfam graphic itself.
Loading domain graphics...
We make a range of alignments for each Pfam-A family:
- the curated alignment from which the HMM for the family is built
- the alignment generated by searching the sequence database using the HMM
- Representative Proteomes (RPs) at 15%, 35%, 55% and 75% co-membership thresholds
- alignment generated by searching the NCBI sequence database using the family HMM
- alignment generated by searching the metagenomics sequence database using the family HMM
You can see the alignments as HTML or in three different sequence viewers:
- Pfam viewer
- an HTML-based viewer that uses DAS to retrieve alignment fragments on request
1Cannot generate PP/Heatmap alignments for seeds; no PP data available
Key: available, not generated, — not available.
Format an alignment
If you find these logos useful in your own work, please consider citing the following article:
Note: You can also download the data file for the tree.
Curation and family details
This family is new in this Pfam release.
|Number in seed:||36|
|Number in full:||250|
|Average length of the domain:||720.00 aa|
|Average identity of full alignment:||60 %|
|Average coverage of the sequence by the domain:||93.29 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||1|
|Download:||download the raw HMM for this family|
Weight segments by...
Change the size of the sunburst
selected sequences to HMM
a FASTA-format file
- 0 sequences
- 0 species
How the sunburst is generated
Colouring and labels
Anomalies in the taxonomy tree
Missing taxonomic levels
Unmapped species names
Too many species/sequences
The tree shows the occurrence of this domain across different species. More...
You can use the tree controls to manipulate how the interactive tree is displayed:
- show/hide the summary boxes
- highlight species that are represented in the seed alignment
- expand/collapse the tree or expand it to a given depth
- select a sub-tree or a set of species within the tree and view them graphically or as an alignment
- save a plain text representation of the tree