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0  structures 199  species 0  interactions 250  sequences 2  architectures

Family: Enamelin (PF15362)

Summary: Enamelin

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This is the Wikipedia entry entitled "ENAM". More...

ENAM Edit Wikipedia article

Enamelin
Identifiers
Symbols ENAM; ADAI; AI1C; AIH2
External IDs OMIM606585 MGI1333772 HomoloGene9698 GeneCards: ENAM Gene
Orthologs
Species Human Mouse
Entrez 10117 13801
Ensembl ENSG00000132464 ENSMUSG00000029286
UniProt Q9NRM1 O55196
RefSeq (mRNA) NM_031889 NM_017468
RefSeq (protein) NP_114095 NP_059496
Location (UCSC) Chr 4:
71.49 – 71.55 Mb
Chr 5:
88.49 – 88.51 Mb
PubMed search [1] [2]
Enamelin
Identifiers
Symbol Enamelin
Pfam PF15362

Enamelin is a protein that in humans is encoded by the ENAM gene.[1][2]

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][2]

Mutations in the ENAM gene can give rise to autosomal dominant Amelogenesis imperfecta,[1][3] indicating a role in Amelogenesis.

References[edit]

  1. ^ a b 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. 
  2. ^ a b "Entrez Gene: ENAM enamelin". 
  3. ^ 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.  edit

Further reading[edit]

External links[edit]


This page is based on a Wikipedia article. The text is available under the Creative Commons Attribution/Share-Alike License.

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.

Literature references

  1. 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

  2. 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

  3. 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

  4. Kelley JL, Swanson WJ;, Genetics. 2008;178:1595-1603.: Dietary change and adaptive evolution of enamelin in humans and among primates. PUBMED:18245370 EPMC:18245370


External database links

This tab holds annotation information from the InterPro database.

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Full
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Representative proteomes NCBI
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RP35
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RP75
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  Seed
(36)
Full
(250)
Representative proteomes NCBI
(246)
Meta
(0)
RP15
(1)
RP35
(1)
RP55
(6)
RP75
(21)
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  Seed
(36)
Full
(250)
Representative proteomes NCBI
(246)
Meta
(0)
RP15
(1)
RP35
(1)
RP55
(6)
RP75
(21)
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You can also download a FASTA format file containing the full-length sequences for all sequences in the full alignment.

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This family is new in this Pfam release.

Seed source: Jackhmmer:Q9NRM1
Previous IDs: none
Type: Family
Author: Coggill P
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 information View help on HMM parameters

HMM build commands:
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 23193494 -E 1000 --cpu 4 HMM pfamseq
Model details:
Parameter Sequence Domain
Gathering cut-off 27.0 27.0
Trusted cut-off 34.5 34.5
Noise cut-off 16.3 16.2
Model length: 906
Family (HMM) version: 1
Download: download the raw HMM for this family

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