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Q9NRM1

- ENAM_HUMAN

UniProt

Q9NRM1 - ENAM_HUMAN

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Protein

Enamelin

Gene
ENAM
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at transcript leveli

Functioni

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

GO - Biological processi

  1. amelogenesis Source: Ensembl
  2. biomineral tissue development Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Biomineralization

Names & Taxonomyi

Protein namesi
Recommended name:
Enamelin
Gene namesi
Name:ENAM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:3344. ENAM.

Subcellular locationi

GO - Cellular componenti

  1. proteinaceous extracellular matrix Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

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.2 Publications
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.1 Publication

Keywords - Diseasei

Amelogenesis imperfecta

Organism-specific databases

MIMi104500. phenotype.
204650. phenotype.
Orphaneti100031. Hypoplastic amelogenesis imperfecta.
PharmGKBiPA27781.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 3939 Reviewed predictionAdd
BLAST
Chaini40 – 11421103EnamelinPRO_0000021174Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi114 – 1141N-linked (GlcNAc...) Reviewed prediction
Glycosylationi126 – 1261N-linked (GlcNAc...) Reviewed prediction
Modified residuei191 – 1911Phosphoserine By similarity
Modified residuei216 – 2161Phosphoserine By similarity
Glycosylationi245 – 2451N-linked (GlcNAc...) Reviewed prediction
Glycosylationi252 – 2521N-linked (GlcNAc...) Reviewed prediction
Glycosylationi265 – 2651N-linked (GlcNAc...) Reviewed prediction
Glycosylationi296 – 2961N-linked (GlcNAc...) Reviewed prediction
Glycosylationi467 – 4671N-linked (GlcNAc...) Reviewed prediction
Glycosylationi534 – 5341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi934 – 9341N-linked (GlcNAc...) Reviewed prediction
Glycosylationi1040 – 10401N-linked (GlcNAc...) Reviewed prediction

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

PaxDbiQ9NRM1.
PRIDEiQ9NRM1.

PTM databases

PhosphoSiteiQ9NRM1.

Expressioni

Tissue specificityi

Expressed in tooth particularly in odontoblast, ameloblast and cementoblast.

Gene expression databases

ArrayExpressiQ9NRM1.
BgeeiQ9NRM1.
CleanExiHS_ENAM.
GenevestigatoriQ9NRM1.

Organism-specific databases

HPAiHPA037868.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000379383.

Structurei

3D structure databases

ProteinModelPortaliQ9NRM1.

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG41206.
HOGENOMiHOG000112367.
HOVERGENiHBG005585.
InParanoidiQ9NRM1.
OMAiYYSEEMF.
OrthoDBiEOG751NDP.
PhylomeDBiQ9NRM1.
TreeFamiTF337278.

Family and domain databases

InterProiIPR015673. Enamelin.
[Graphical view]
PANTHERiPTHR16784. PTHR16784. 1 hit.
PfamiPF15362. Enamelin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q9NRM1-1 [UniParc]FASTAAdd to Basket

« Hide

MLVLRCRLGT SFPKLDNLVP KGKMKILLVF LGLLGNSVAM PMHMPRMPGF     50
SSKSEEMMRY NQFNFMNGPH MAHLGPFFGN GLPQQFPQYQ MPMWPQPPPN 100
TWHPRKSSAP KRHNKTDQTQ ETQKPNQTQS KKPPQKRPLK QPSHNQPQPE 150
EEAQPPQAFP PFGNGLFPYQ QPPWQIPQRL PPPGYGRPPI SNEEGGNPYF 200
GYFGYHGFGG RPPYYSEEMF EQDFEKPKEE DPPKAESPGT EPTANSTVTE 250
TNSTQPNPKG SQGGNDTSPT GNSTPGLNTG NNPPAQNGIG PLPAVNASGQ 300
GGPGSQIPWR PSQPNIRENH PYPNIRNFPS GRQWYFTGTV MGHRQNRPFY 350
RNQQVQRGPR WNFFAWERKQ VARPGNPVYH KAYPPTSRGN YPNYAGNPAN 400
LRRKPQGPNK HPVGTTVAPL GPKPGPVVRN EKIQNPKEKP LGPKEQIIVP 450
TKNPTSPWRN SQQYEVNKSN YKLPHSEGYM PVPNFNSVDQ HENSYYPRGD 500
SRKVPNSDGQ TQSQNLPKGI VLGSRRMPYE SETNQSELKH SSYQPAVYPE 550
EIPSPAKEHF PAGRNTWDHQ EISPPFKEDP GRQEEHLPHP SHGSRGSVFY 600
PEYNPYDPRE NSPYLRGNTW DERDDSPNTM GQKESPLYPI NTPDQKEIVP 650
YNEEDPVDPT GDEVFPGQNR WGEELSFKGG PTVRHYEGEQ YTSNQPKEYL 700
PYSLDNPSKP REDFYYSEFY PWSPDENFPS YNTASTMPPP IESRGYYVNN 750
AAGPEESTLF PSRNSWDHRI QAQGQRERRP YFNRNIWDQA THLQKAPARP 800
PDQKGNQPYY SNTPAGLQKN PIWHEGENLN YGMQITRMNS PEREHSSFPN 850
FIPPSYPSGQ KEAHLFHLSQ RGSCCAGSST GPKDNPLALQ DYTPSYGLAP 900
GENQDTSPLY TDGSHTKQTR DIISPTSILP GQRNSSEKRE SQNPFRDDVS 950
TLRRNTPCSI KNQLGQKEIM PFPEASSLQS KNTPCLKNDL GGDGNNILEQ 1000
VFEDNQLNER TVDLTPEQLV IGTPDEGSNP EGIQSQVQEN ESERQQQRPS 1050
NILHLPCFGS KLAKHHSSTT GTPSSDGRQS PFDGDSITPT ENPNTLVELA 1100
TEEQFKSINV DPLDADEHSP FEFLQRGTNV QDQVQDCLLL QA 1142
Length:1,142
Mass (Da):128,785
Last modified:November 4, 2008 - v3
Checksum:i28274A71BE947EB1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti576 – 5761F → L.
Corresponds to variant rs2609428 [ dbSNP | Ensembl ].
VAR_024311
Natural varianti648 – 6481I → T.1 Publication
Corresponds to variant rs7671281 [ dbSNP | Ensembl ].
VAR_024312
Natural varianti724 – 7241P → L.
Corresponds to variant rs3796703 [ dbSNP | Ensembl ].
VAR_020105
Natural varianti763 – 7631R → Q.1 Publication
Corresponds to variant rs3796704 [ dbSNP | Ensembl ].
VAR_024313
Natural varianti767 – 7671D → G.
Corresponds to variant rs3796705 [ dbSNP | Ensembl ].
VAR_047076

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti284 – 2841P → S in AAG43242. 1 Publication
Sequence conflicti286 – 2861Q → R in AAG43242. 1 Publication
Sequence conflicti948 – 9481D → G in AAG43242. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS3544.2.
RefSeqiNP_114095.2. NM_031889.2.
XP_006714119.1. XM_006714056.1.
UniGeneiHs.667018.

Genome annotation databases

EnsembliENST00000396073; ENSP00000379383; ENSG00000132464.
GeneIDi10117.
KEGGihsa:10117.
UCSCiuc011caw.1. human.

Polymorphism databases

DMDMi212276506.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS3544.2.
RefSeqi NP_114095.2. NM_031889.2.
XP_006714119.1. XM_006714056.1.
UniGenei Hs.667018.

3D structure databases

ProteinModelPortali Q9NRM1.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000379383.

PTM databases

PhosphoSitei Q9NRM1.

Polymorphism databases

DMDMi 212276506.

Proteomic databases

PaxDbi Q9NRM1.
PRIDEi Q9NRM1.

Protocols and materials databases

DNASUi 10117.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000396073 ; ENSP00000379383 ; ENSG00000132464 .
GeneIDi 10117.
KEGGi hsa:10117.
UCSCi uc011caw.1. human.

Organism-specific databases

CTDi 10117.
GeneCardsi GC04P071494.
HGNCi HGNC:3344. ENAM.
HPAi HPA037868.
MIMi 104500. phenotype.
204650. phenotype.
606585. gene.
neXtProti NX_Q9NRM1.
Orphaneti 100031. Hypoplastic amelogenesis imperfecta.
PharmGKBi PA27781.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG41206.
HOGENOMi HOG000112367.
HOVERGENi HBG005585.
InParanoidi Q9NRM1.
OMAi YYSEEMF.
OrthoDBi EOG751NDP.
PhylomeDBi Q9NRM1.
TreeFami TF337278.

Miscellaneous databases

GeneWikii ENAM.
GenomeRNAii 10117.
NextBioi 38273.
PROi Q9NRM1.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9NRM1.
Bgeei Q9NRM1.
CleanExi HS_ENAM.
Genevestigatori Q9NRM1.

Family and domain databases

InterProi IPR015673. Enamelin.
[Graphical view ]
PANTHERi PTHR16784. PTHR16784. 1 hit.
Pfami PF15362. Enamelin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiENAM_HUMAN
AccessioniPrimary (citable) accession number: Q9NRM1
Secondary accession number(s): Q17RI5, Q9H3D1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 4, 2008
Last modified: July 9, 2014
This is version 111 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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