Details for: ENAM

Gene ID: 10117

Symbol: ENAM

Ensembl ID: ENSG00000132464

Description: enamelin

Associated with

Other Information

Genular Protein ID: 4102300501

Symbol: ENAM_HUMAN

Name: Enamelin

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 18245370

Title: Dietary change and adaptive evolution of enamelin in humans and among primates.

PubMed ID: 18245370

DOI: 10.1534/genetics.107.077123

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11037750

Title: Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus.

PubMed ID: 11037750

DOI: 10.1034/j.1600-0722.2000.108005353.x

PubMed ID: 11487571

Title: Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

PubMed ID: 11487571

DOI: 10.1093/hmg/10.16.1673

PubMed ID: 11978766

Title: A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

PubMed ID: 11978766

DOI: 10.1093/hmg/11.9.1069

PubMed ID: 14684688

Title: Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

PubMed ID: 14684688

DOI: 10.1136/jmg.40.12.900

PubMed ID: 25789606

Title: A secretory kinase complex regulates extracellular protein phosphorylation.

PubMed ID: 25789606

DOI: 10.7554/elife.06120

PubMed ID: 20439930

Title: Altered enamelin phosphorylation site causes amelogenesis imperfecta.

PubMed ID: 20439930

DOI: 10.1177/0022034510365662

Sequence Information:

  • Length: 1142
  • Mass: 128785
  • Checksum: 28274A71BE947EB1
  • Sequence:
  • MLVLRCRLGT SFPKLDNLVP KGKMKILLVF LGLLGNSVAM PMHMPRMPGF SSKSEEMMRY 
    NQFNFMNGPH MAHLGPFFGN GLPQQFPQYQ MPMWPQPPPN TWHPRKSSAP KRHNKTDQTQ 
    ETQKPNQTQS KKPPQKRPLK QPSHNQPQPE EEAQPPQAFP PFGNGLFPYQ QPPWQIPQRL 
    PPPGYGRPPI SNEEGGNPYF GYFGYHGFGG RPPYYSEEMF EQDFEKPKEE DPPKAESPGT 
    EPTANSTVTE TNSTQPNPKG SQGGNDTSPT GNSTPGLNTG NNPPAQNGIG PLPAVNASGQ 
    GGPGSQIPWR PSQPNIRENH PYPNIRNFPS GRQWYFTGTV MGHRQNRPFY RNQQVQRGPR 
    WNFFAWERKQ VARPGNPVYH KAYPPTSRGN YPNYAGNPAN LRRKPQGPNK HPVGTTVAPL 
    GPKPGPVVRN EKIQNPKEKP LGPKEQIIVP TKNPTSPWRN SQQYEVNKSN YKLPHSEGYM 
    PVPNFNSVDQ HENSYYPRGD SRKVPNSDGQ TQSQNLPKGI VLGSRRMPYE SETNQSELKH 
    SSYQPAVYPE EIPSPAKEHF PAGRNTWDHQ EISPPFKEDP GRQEEHLPHP SHGSRGSVFY 
    PEYNPYDPRE NSPYLRGNTW DERDDSPNTM GQKESPLYPI NTPDQKEIVP YNEEDPVDPT 
    GDEVFPGQNR WGEELSFKGG PTVRHYEGEQ YTSNQPKEYL PYSLDNPSKP REDFYYSEFY 
    PWSPDENFPS YNTASTMPPP IESRGYYVNN AAGPEESTLF PSRNSWDHRI QAQGQRERRP 
    YFNRNIWDQA THLQKAPARP PDQKGNQPYY SNTPAGLQKN PIWHEGENLN YGMQITRMNS 
    PEREHSSFPN FIPPSYPSGQ KEAHLFHLSQ RGSCCAGSST GPKDNPLALQ DYTPSYGLAP 
    GENQDTSPLY TDGSHTKQTR DIISPTSILP GQRNSSEKRE SQNPFRDDVS TLRRNTPCSI 
    KNQLGQKEIM PFPEASSLQS KNTPCLKNDL GGDGNNILEQ VFEDNQLNER TVDLTPEQLV 
    IGTPDEGSNP EGIQSQVQEN ESERQQQRPS NILHLPCFGS KLAKHHSSTT GTPSSDGRQS 
    PFDGDSITPT ENPNTLVELA TEEQFKSINV DPLDADEHSP FEFLQRGTNV QDQVQDCLLL 
    QA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.