KEGG   Homo sapiens (human): 10117
Entry
10117             CDS       T01001                                 

Gene name
ENAM, ADAI, AI1C, AIH2
Definition
(RefSeq) enamelin
  KO
K23444  enamelin
Organism
hsa  Homo sapiens (human)
Disease
H00615  Amelogenesis imperfecta
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09190 Not Included in Pathway or Brite
  09193 Unclassified: signaling and cellular processes
   99992 Structural proteins
    10117 (ENAM)
SSDB
Motif
Pfam: Enamelin
Other DBs
NCBI-GeneID: 10117
NCBI-ProteinID: NP_114095
OMIM: 606585
HGNC: 3344
Ensembl: ENSG00000132464
Vega: OTTHUMG00000129914
Pharos: Q9NRM1(Tbio)
UniProt: Q9NRM1
Position
4q13.3
AA seq 1142 aa
MLVLRCRLGTSFPKLDNLVPKGKMKILLVFLGLLGNSVAMPMHMPRMPGFSSKSEEMMRY
NQFNFMNGPHMAHLGPFFGNGLPQQFPQYQMPMWPQPPPNTWHPRKSSAPKRHNKTDQTQ
ETQKPNQTQSKKPPQKRPLKQPSHNQPQPEEEAQPPQAFPPFGNGLFPYQQPPWQIPQRL
PPPGYGRPPISNEEGGNPYFGYFGYHGFGGRPPYYSEEMFEQDFEKPKEEDPPKAESPGT
EPTANSTVTETNSTQPNPKGSQGGNDTSPTGNSTPGLNTGNNPPAQNGIGPLPAVNASGQ
GGPGSQIPWRPSQPNIRENHPYPNIRNFPSGRQWYFTGTVMGHRQNRPFYRNQQVQRGPR
WNFFAWERKQVARPGNPVYHKAYPPTSRGNYPNYAGNPANLRRKPQGPNKHPVGTTVAPL
GPKPGPVVRNEKIQNPKEKPLGPKEQIIVPTKNPTSPWRNSQQYEVNKSNYKLPHSEGYM
PVPNFNSVDQHENSYYPRGDSRKVPNSDGQTQSQNLPKGIVLGSRRMPYESETNQSELKH
SSYQPAVYPEEIPSPAKEHFPAGRNTWDHQEISPPFKEDPGRQEEHLPHPSHGSRGSVFY
PEYNPYDPRENSPYLRGNTWDERDDSPNTMGQKESPLYPINTPDQKEIVPYNEEDPVDPT
GDEVFPGQNRWGEELSFKGGPTVRHYEGEQYTSNQPKEYLPYSLDNPSKPREDFYYSEFY
PWSPDENFPSYNTASTMPPPIESRGYYVNNAAGPEESTLFPSRNSWDHRIQAQGQRERRP
YFNRNIWDQATHLQKAPARPPDQKGNQPYYSNTPAGLQKNPIWHEGENLNYGMQITRMNS
PEREHSSFPNFIPPSYPSGQKEAHLFHLSQRGSCCAGSSTGPKDNPLALQDYTPSYGLAP
GENQDTSPLYTDGSHTKQTRDIISPTSILPGQRNSSEKRESQNPFRDDVSTLRRNTPCSI
KNQLGQKEIMPFPEASSLQSKNTPCLKNDLGGDGNNILEQVFEDNQLNERTVDLTPEQLV
IGTPDEGSNPEGIQSQVQENESERQQQRPSNILHLPCFGSKLAKHHSSTTGTPSSDGRQS
PFDGDSITPTENPNTLVELATEEQFKSINVDPLDADEHSPFEFLQRGTNVQDQVQDCLLL
QA
NT seq 3429 nt   +upstreamnt  +downstreamnt
atgttggtgcttcggtgcaggcttggaacctcttttcctaaactagataacttggtacca
aaaggcaaaatgaagattctcctggtctttctagggcttcttggtaattctgttgctatg
ccaatgcacatgccccgaatgcctggatttagcagtaaaagtgaggagatgatgcggtat
aatcaattcaactttatgaacggcccacatatggcacacctggggcccttctttggaaac
ggtctccctcagcaatttccacagtaccagatgcccatgtggcctcagccaccacccaac
acatggcatccacggaaatcctcagcacccaaacgtcataacaagactgatcagacccaa
gaaacccagaaacccaaccagactcagtcaaaaaagccaccacaaaagcggcctttgaag
cagccatcacataatcaacctcagcccgaagaggaagctcaaccccctcaggcattccca
ccatttggaaatgggctattcccctatcaacaaccaccatggcaaattccacagaggtta
ccaccaccaggttatggacgcccaccaatcagcaatgaagaaggggggaatccttacttt
ggatattttggatatcatggctttgggggtcgccctccttattattcagaagaaatgttt
gaacaagattttgaaaaacccaaagaagaagatcctcctaaagcagaaagtccaggcaca
gaacccacagctaattcaacagtcactgagacgaattctacccaaccaaatcctaaaggg
agtcagggaggaaatgacaccagccccacaggaaacagtaccccaggactaaacactggg
aacaaccctccagctcaaaatgggattggcccactccctgcagtcaacgcttcaggccag
ggagggccaggaagtcaaatcccatggagaccaagtcagccaaatattcgtgaaaatcat
ccatatcctaatataagaaattttccttcaggaagacagtggtatttcactggtactgtc
atggggcacagacagaataggcctttttacagaaatcaacaagttcaaaggggtcctcgg
tggaacttctttgcttgggaacgtaaacaagtagctcgtccaggaaatccagtttatcac
aaagcttaccctcctacttcaagaggcaattatcccaattatgcaggaaatccagcaaat
ctcagaagaaagcctcaggggccaaataaacaccctgtaggaactactgttgccccactg
ggtcccaaacctggccctgttgttcgcaatgaaaaaatccaaaatccaaaggagaagccc
ctgggtccaaaagaacaaataatagttcctacaaagaatccaaccagcccctggagaaac
tctcaacagtatgaagttaataaatcaaattataaactgcctcactctgagggttatatg
ccagtcccaaattttaattctgttgatcaacatgaaaactcctattacccaagaggagat
tccagaaaagtcccaaattctgatggacaaacccaaagccagaatttgcccaaagggatt
gttttagggtcaagaaggatgccatatgaatcagaaactaatcagtcagaattaaagcac
agctcatatcagcctgctgtataccctgaggaaatcccttctcctgcaaaagaacatttt
cctgctggaagaaatacttgggaccaccaagaaatctctccaccttttaaggaagatcca
gggaggcaagaagaacatttaccccatccttcccatggttctagaggaagtgttttctac
cctgaatataacccatatgatcccagggaaaactcaccataccttagaggcaatacatgg
gatgagagagatgattctcccaatactatggggcaaaaagaaagtccactctaccccata
aataccccagaccagaaggagatagtcccttataatgaagaggacccagttgatccaact
ggagatgaagtctttcctggacaaaatagatggggtgaagagttgagcttcaaaggaggc
ccaacagttaggcactatgaaggtgaacaatatacctcaaatcagccaaaggaatatctt
ccctattctttagataatccatcaaaaccaagggaggatttttattacagtgaattttac
ccatggagcccggatgagaattttccatcatataatacagcttctactatgccaccacct
atagagagcaggggctactacgttaataatgccgctggaccagaagaaagcactctattt
ccttcacggaattcctgggaccacaggatacaagcccaagggcagagagaaagaaggccg
tattttaacagaaatatctgggatcaggcaacacatttacaaaaagccccagctaggcca
ccagaccagaaaggtaaccagccctattacagtaacaccccagctgggcttcagaaaaat
ccaatatggcatgaaggtgagaatttgaactatggcatgcaaataactaggatgaattct
ccagagagagaacattcatctttccctaacttcatcccaccaagttacccatcaggtcaa
aaagaagcacatttatttcacctaagccagagaggctcttgctgtgctggtagctccaca
gggcccaaggacaatccactagctctacaagactacactccatcctatggtcttgcacct
ggggagaaccaagacaccagtcctctgtatacagacggtagtcataccaagcagacaaga
gatatcatctccccaacaagcatcctaccaggccaaagaaacagctcagagaagagggaa
agccaaaacccttttagagatgatgtgtccacgctgaggaggaacacaccatgttctata
aagaatcaactgggccaaaaggaaattatgccctttcctgaagccagttcccttcaatca
aagaatacaccttgtctcaaaaatgatcttggaggagatgggaacaacattctggaacaa
gtttttgaagacaaccagctcaatgaaagaactgttgaccttactcctgagcagcttgtt
attggtacacctgatgaaggctccaatccagaaggcatccaaagtcaagtccaagaaaat
gagagtgagaggcaacagcaaagaccatctaacattctgcatttgccatgctttggctcc
aaattagcaaagcatcactcttccaccaccggaactccatctagcgatggaaggcaaagc
ccatttgatggggattcaattacgcctactgaaaatcctaacacattggttgagttagct
actgaggaacaatttaagagtataaatgtagacccacttgatgcagatgaacacagtcca
tttgaattccttcaaagagggaccaatgtacaggaccaggtacaagactgcttactactt
caggcctag

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