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Q9NRM1

- ENAM_HUMAN

UniProt

Q9NRM1 - ENAM_HUMAN

Protein

Enamelin

Gene

ENAM

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 112 (01 Oct 2014)
      Sequence version 3 (04 Nov 2008)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ9NRM1.
    BgeeiQ9NRM1.
    CleanExiHS_ENAM.
    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.
    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

    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:
    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

    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 1, 2014
    This is version 112 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