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Q9NRM1 (ENAM_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Enamelin
Gene names
Name:ENAM
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1142 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation.

Subcellular location

Secretedextracellular spaceextracellular matrix.

Tissue specificity

Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Involvement in disease

Amelogenesis imperfecta 1B (AI1B) [MIM:104500]: An autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and widely spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Amelogenesis imperfecta 1C (AI1C) [MIM:204650]: An autosomal recessive defect of dental enamel formation. Teeth show local hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Ontologies

Keywords
   Biological processBiomineralization
   Cellular componentExtracellular matrix
Secreted
   Coding sequence diversityPolymorphism
   DiseaseAmelogenesis imperfecta
   DomainSignal
   PTMGlycoprotein
Phosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processamelogenesis

Inferred from electronic annotation. Source: Ensembl

biomineral tissue development

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentproteinaceous extracellular matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3939 Potential
Chain40 – 11421103Enamelin
PRO_0000021174

Amino acid modifications

Modified residue1911Phosphoserine By similarity
Modified residue2161Phosphoserine By similarity
Glycosylation1141N-linked (GlcNAc...) Potential
Glycosylation1261N-linked (GlcNAc...) Potential
Glycosylation2451N-linked (GlcNAc...) Potential
Glycosylation2521N-linked (GlcNAc...) Potential
Glycosylation2651N-linked (GlcNAc...) Potential
Glycosylation2961N-linked (GlcNAc...) Potential
Glycosylation4671N-linked (GlcNAc...) Potential
Glycosylation5341N-linked (GlcNAc...) Potential
Glycosylation9341N-linked (GlcNAc...) Potential
Glycosylation10401N-linked (GlcNAc...) Potential

Natural variations

Natural variant5761F → L.
Corresponds to variant rs2609428 [ dbSNP | Ensembl ].
VAR_024311
Natural variant6481I → T. Ref.1
Corresponds to variant rs7671281 [ dbSNP | Ensembl ].
VAR_024312
Natural variant7241P → L.
Corresponds to variant rs3796703 [ dbSNP | Ensembl ].
VAR_020105
Natural variant7631R → Q. Ref.1
Corresponds to variant rs3796704 [ dbSNP | Ensembl ].
VAR_024313
Natural variant7671D → G.
Corresponds to variant rs3796705 [ dbSNP | Ensembl ].
VAR_047076

Experimental info

Sequence conflict2841P → S in AAG43242. Ref.2
Sequence conflict2861Q → R in AAG43242. Ref.2
Sequence conflict9481D → G in AAG43242. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Q9NRM1 [UniParc].

Last modified November 4, 2008. Version 3.
Checksum: 28274A71BE947EB1

FASTA1,142128,785
        10         20         30         40         50         60 
MLVLRCRLGT SFPKLDNLVP KGKMKILLVF LGLLGNSVAM PMHMPRMPGF SSKSEEMMRY 

        70         80         90        100        110        120 
NQFNFMNGPH MAHLGPFFGN GLPQQFPQYQ MPMWPQPPPN TWHPRKSSAP KRHNKTDQTQ 

       130        140        150        160        170        180 
ETQKPNQTQS KKPPQKRPLK QPSHNQPQPE EEAQPPQAFP PFGNGLFPYQ QPPWQIPQRL 

       190        200        210        220        230        240 
PPPGYGRPPI SNEEGGNPYF GYFGYHGFGG RPPYYSEEMF EQDFEKPKEE DPPKAESPGT 

       250        260        270        280        290        300 
EPTANSTVTE TNSTQPNPKG SQGGNDTSPT GNSTPGLNTG NNPPAQNGIG PLPAVNASGQ 

       310        320        330        340        350        360 
GGPGSQIPWR PSQPNIRENH PYPNIRNFPS GRQWYFTGTV MGHRQNRPFY RNQQVQRGPR 

       370        380        390        400        410        420 
WNFFAWERKQ VARPGNPVYH KAYPPTSRGN YPNYAGNPAN LRRKPQGPNK HPVGTTVAPL 

       430        440        450        460        470        480 
GPKPGPVVRN EKIQNPKEKP LGPKEQIIVP TKNPTSPWRN SQQYEVNKSN YKLPHSEGYM 

       490        500        510        520        530        540 
PVPNFNSVDQ HENSYYPRGD SRKVPNSDGQ TQSQNLPKGI VLGSRRMPYE SETNQSELKH 

       550        560        570        580        590        600 
SSYQPAVYPE EIPSPAKEHF PAGRNTWDHQ EISPPFKEDP GRQEEHLPHP SHGSRGSVFY 

       610        620        630        640        650        660 
PEYNPYDPRE NSPYLRGNTW DERDDSPNTM GQKESPLYPI NTPDQKEIVP YNEEDPVDPT 

       670        680        690        700        710        720 
GDEVFPGQNR WGEELSFKGG PTVRHYEGEQ YTSNQPKEYL PYSLDNPSKP REDFYYSEFY 

       730        740        750        760        770        780 
PWSPDENFPS YNTASTMPPP IESRGYYVNN AAGPEESTLF PSRNSWDHRI QAQGQRERRP 

       790        800        810        820        830        840 
YFNRNIWDQA THLQKAPARP PDQKGNQPYY SNTPAGLQKN PIWHEGENLN YGMQITRMNS 

       850        860        870        880        890        900 
PEREHSSFPN FIPPSYPSGQ KEAHLFHLSQ RGSCCAGSST GPKDNPLALQ DYTPSYGLAP 

       910        920        930        940        950        960 
GENQDTSPLY TDGSHTKQTR DIISPTSILP GQRNSSEKRE SQNPFRDDVS TLRRNTPCSI 

       970        980        990       1000       1010       1020 
KNQLGQKEIM PFPEASSLQS KNTPCLKNDL GGDGNNILEQ VFEDNQLNER TVDLTPEQLV 

      1030       1040       1050       1060       1070       1080 
IGTPDEGSNP EGIQSQVQEN ESERQQQRPS NILHLPCFGS KLAKHHSSTT GTPSSDGRQS 

      1090       1100       1110       1120       1130       1140 
PFDGDSITPT ENPNTLVELA TEEQFKSINV DPLDADEHSP FEFLQRGTNV QDQVQDCLLL 


QA 

« Hide

References

« Hide 'large scale' references
[1]"Dietary change and adaptive evolution of enamelin in humans and among primates."
Kelley J.L., Swanson W.J.
Genetics 178:1595-1603(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS THR-648 AND GLN-763.
[2]"cDNA sequence of human enamelin."
Hu C.-C., Qian Q., Zhang C., Fukae M., Uchida T., Simmer J.P.
Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[3]Mural R.J., Istrail S., Sutton G.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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus."
Dong J., Gu T.T., Simmons D., MacDougall M.
Eur. J. Oral Sci. 108:353-358(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1014-1142.
[6]"Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta."
Rajpar M.H., Harley K., Laing C., Davies R.M., Dixon M.J.
Hum. Mol. Genet. 10:1673-1677(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN AI1B.
[7]"A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)."
Mardh C.K., Backman B., Holmgren G., Hu J.C., Simmer J.P., Forsman-Semb K.
Hum. Mol. Genet. 11:1069-1074(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN AI1B.
[8]"Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects."
Hart T.C., Hart P.S., Gorry M.C., Michalec M.D., Ryu O.H., Uygur C., Ozdemir D., Firatli S., Aren G., Firatli E.
J. Med. Genet. 40:900-906(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN AI1C.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
EU482096 Genomic DNA. Translation: ACA43029.1.
AF125373 mRNA. Translation: AAG43242.1.
CH471057 Genomic DNA. Translation: EAX05625.1.
BC117308 mRNA. Translation: AAI17309.1.
BC117310 mRNA. Translation: AAI17311.1.
AF210247 mRNA. Translation: AAF73847.1.
RefSeqNP_114095.2. NM_031889.2.
UniGeneHs.667018.

3D structure databases

ProteinModelPortalQ9NRM1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000379383.

PTM databases

PhosphoSiteQ9NRM1.

Polymorphism databases

DMDM212276506.

Proteomic databases

PaxDbQ9NRM1.
PRIDEQ9NRM1.

Protocols and materials databases

DNASU10117.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000396073; ENSP00000379383; ENSG00000132464.
GeneID10117.
KEGGhsa:10117.
UCSCuc011caw.1. human.

Organism-specific databases

CTD10117.
GeneCardsGC04P071494.
HGNCHGNC:3344. ENAM.
HPAHPA037868.
MIM104500. phenotype.
204650. phenotype.
606585. gene.
neXtProtNX_Q9NRM1.
Orphanet100031. Hypoplastic amelogenesis imperfecta.
PharmGKBPA27781.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG41206.
HOGENOMHOG000112367.
HOVERGENHBG005585.
InParanoidQ9NRM1.
OMAYYSEEMF.
OrthoDBEOG751NDP.
PhylomeDBQ9NRM1.
TreeFamTF337278.

Gene expression databases

ArrayExpressQ9NRM1.
BgeeQ9NRM1.
CleanExHS_ENAM.
GenevestigatorQ9NRM1.

Family and domain databases

InterProIPR015673. Enamelin.
[Graphical view]
PANTHERPTHR16784. PTHR16784. 1 hit.
PfamPF15362. Enamelin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiENAM.
GenomeRNAi10117.
NextBio38273.
PROQ9NRM1.
SOURCESearch...

Entry information

Entry nameENAM_HUMAN
AccessionPrimary (citable) accession number: Q9NRM1
Secondary accession number(s): Q17RI5, Q9H3D1
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 4, 2008
Last modified: March 19, 2014
This is version 109 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 4

Human chromosome 4: entries, gene names and cross-references to MIM