KEGG   Homo sapiens (human): 258
Entry
258               CDS       T01001                                 

Gene name
AMBN, AI1F
Definition
(RefSeq) ameloblastin
  KO
K23442  ameloblastin
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
    258 (AMBN)
SSDB
Motif
Pfam: Amelin
Other DBs
NCBI-GeneID: 258
NCBI-ProteinID: NP_057603
OMIM: 601259
HGNC: 452
Ensembl: ENSG00000178522
Vega: OTTHUMG00000129913
Pharos: Q9NP70(Tbio)
UniProt: Q9NP70 Q546D7
Position
4q13.3
AA seq 447 aa
MSASKIPLFKMKDLILILCLLEMSFAVPFFPQQSGTPGMASLSLETMRQLGSLQRLNTLS
QYSRYGFGKSFNSLWMHGLLPPHSSLPWMRPREHETQQYEYSLPVHPPPLPSQPSLKPQQ
PGLKPFLQSAAATTNQATALKEALQPPIHLGHLPLQEGELPLVQQQVAPSDKPPKPELPG
VDFADPQGPSLPGMDFPDPQGPSLPGLDFADPQGSTIFQIARLISHGPMPQNKQSPLYPG
MLYVPFGANQLNAPARLGIMSSEEVAGGREDPMAYGAMFPGFGGMRPGFEGMPHNPAMGG
DFTLEFDSPVAATKGPENEEGGAQGSPMPEANPDNLENPAFLTELEPAPHAGLLALPKDD
IPGLPRSPSGKMKGLPSVTPAAADPLMTPELADVYRTYDADMTTSVDFQEEATMDTTMAP
NSLQTSMPGNKAQEPEMMHDAWHFQEP
NT seq 1344 nt   +upstreamnt  +downstreamnt
atgtcagcatctaagattccacttttcaaaatgaaggacctgatactgatcctatgcctc
ctggaaatgagttttgcagtgccgttctttcctcagcaatctggaacaccgggtatggct
agtttgagccttgagacaatgagacagttgggaagtctgcagagattaaacacactttct
cagtattctagatacggctttggaaaatcatttaattctttgtggatgcacggtctcctc
ccaccacattcctctcttccatggatgaggccaagagaacatgaaactcaacagtatgaa
tattctttgcctgtgcatcccccacctctcccatcacagccatccttgaagcctcaacag
ccaggactgaaaccttttctccagtctgctgctgcaaccaccaaccaggccacagcactg
aaagaagcacttcagcctccaattcacctgggacatctgcccttgcaggaaggagaactg
cctctggttcagcagcaggtggcaccatcagataagccaccaaagcctgagctcccagga
gtagattttgctgatccacaaggtccatcactcccaggaatggattttcctgatccacaa
ggtccatcactcccaggattggattttgctgatccacaaggttcaacaattttccaaata
gcccgtttgatttctcacggaccaatgccacaaaataaacaatctccactttatccagga
atgttgtacgtgccttttggagcaaatcaattgaatgcccctgccagacttggcatcatg
agttcagaagaagtggcaggcgggagagaagacccaatggcctatggagccatgtttcca
ggatttggaggcatgaggcccggctttgagggaatgccccacaacccagctatgggcggt
gacttcactctggaatttgactccccagtggctgccaccaaaggccctgagaacgaagaa
ggaggtgcacaaggctcccctatgccggaggccaacccagacaatctagaaaacccagct
ttccttacagagctagaacctgctccccacgcagggctccttgctctccctaaggatgac
attcccggcctgccaaggagcccttcagggaagatgaagggactccccagcgtcacccca
gcagctgctgacccactgatgacccctgaattagctgatgtttataggacctacgatgct
gacatgaccacatccgtggatttccaggaagaagcaaccatggataccacgatggcccca
aactctctgcaaacatccatgccaggaaacaaagcccaggagcccgagatgatgcatgac
gcatggcatttccaagagccctga

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