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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-KW
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).2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

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 – 3939Sequence AnalysisAdd
BLAST
Chaini40 – 11421103EnamelinPRO_0000021174Add
BLAST

Amino acid modifications

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

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

BgeeiQ9NRM1.
CleanExiHS_ENAM.
ExpressionAtlasiQ9NRM1. baseline and differential.
GenevestigatoriQ9NRM1.

Organism-specific databases

HPAiHPA037868.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000379383.

Structurei

3D structure databases

ProteinModelPortaliQ9NRM1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG41206.
GeneTreeiENSGT00440000037826.
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

        10         20         30         40         50
MLVLRCRLGT SFPKLDNLVP KGKMKILLVF LGLLGNSVAM PMHMPRMPGF
60 70 80 90 100
SSKSEEMMRY NQFNFMNGPH MAHLGPFFGN GLPQQFPQYQ MPMWPQPPPN
110 120 130 140 150
TWHPRKSSAP KRHNKTDQTQ ETQKPNQTQS KKPPQKRPLK QPSHNQPQPE
160 170 180 190 200
EEAQPPQAFP PFGNGLFPYQ QPPWQIPQRL PPPGYGRPPI SNEEGGNPYF
210 220 230 240 250
GYFGYHGFGG RPPYYSEEMF EQDFEKPKEE DPPKAESPGT EPTANSTVTE
260 270 280 290 300
TNSTQPNPKG SQGGNDTSPT GNSTPGLNTG NNPPAQNGIG PLPAVNASGQ
310 320 330 340 350
GGPGSQIPWR PSQPNIRENH PYPNIRNFPS GRQWYFTGTV MGHRQNRPFY
360 370 380 390 400
RNQQVQRGPR WNFFAWERKQ VARPGNPVYH KAYPPTSRGN YPNYAGNPAN
410 420 430 440 450
LRRKPQGPNK HPVGTTVAPL GPKPGPVVRN EKIQNPKEKP LGPKEQIIVP
460 470 480 490 500
TKNPTSPWRN SQQYEVNKSN YKLPHSEGYM PVPNFNSVDQ HENSYYPRGD
510 520 530 540 550
SRKVPNSDGQ TQSQNLPKGI VLGSRRMPYE SETNQSELKH SSYQPAVYPE
560 570 580 590 600
EIPSPAKEHF PAGRNTWDHQ EISPPFKEDP GRQEEHLPHP SHGSRGSVFY
610 620 630 640 650
PEYNPYDPRE NSPYLRGNTW DERDDSPNTM GQKESPLYPI NTPDQKEIVP
660 670 680 690 700
YNEEDPVDPT GDEVFPGQNR WGEELSFKGG PTVRHYEGEQ YTSNQPKEYL
710 720 730 740 750
PYSLDNPSKP REDFYYSEFY PWSPDENFPS YNTASTMPPP IESRGYYVNN
760 770 780 790 800
AAGPEESTLF PSRNSWDHRI QAQGQRERRP YFNRNIWDQA THLQKAPARP
810 820 830 840 850
PDQKGNQPYY SNTPAGLQKN PIWHEGENLN YGMQITRMNS PEREHSSFPN
860 870 880 890 900
FIPPSYPSGQ KEAHLFHLSQ RGSCCAGSST GPKDNPLALQ DYTPSYGLAP
910 920 930 940 950
GENQDTSPLY TDGSHTKQTR DIISPTSILP GQRNSSEKRE SQNPFRDDVS
960 970 980 990 1000
TLRRNTPCSI KNQLGQKEIM PFPEASSLQS KNTPCLKNDL GGDGNNILEQ
1010 1020 1030 1040 1050
VFEDNQLNER TVDLTPEQLV IGTPDEGSNP EGIQSQVQEN ESERQQQRPS
1060 1070 1080 1090 1100
NILHLPCFGS KLAKHHSSTT GTPSSDGRQS PFDGDSITPT ENPNTLVELA
1110 1120 1130 1140
TEEQFKSINV DPLDADEHSP FEFLQRGTNV QDQVQDCLLL QA
Length:1,142
Mass (Da):128,785
Last modified:November 4, 2008 - v3
Checksum:i28274A71BE947EB1
GO

Experimental Info

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

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 databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00440000037826.
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

Bgeei Q9NRM1.
CleanExi HS_ENAM.
ExpressionAtlasi Q9NRM1. baseline and differential.
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: October 29, 2014
This is version 113 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