KEGG   Homo sapiens (human): 2006
Entry
2006              CDS       T01001                                 

Gene name
ELN, ADCL1, SVAS, WBS, WS
Definition
(RefSeq) elastin
  KO
K14211  elastin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04974  Protein digestion and absorption
Disease
H00553  Congenital supravalvar aortic stenosis
H00557  Cutis laxa
H01439  Williams-Beuren syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    2006 (ELN)
SSDB
Other DBs
NCBI-GeneID: 2006
NCBI-ProteinID: NP_001265868
OMIM: 130160
HGNC: 3327
Ensembl: ENSG00000049540
Vega: OTTHUMG00000150229
Pharos: P15502(Tbio)
UniProt: P15502
Position
7q11.23
AA seq 786 aa
MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGG
KPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGG
LGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAP
GVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG
KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGT
PAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIP
GAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV
PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGV
PGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAP
GVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGL
GVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAA
VPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVP
GVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKA
CGRKRK
NT seq 2361 nt   +upstreamnt  +downstreamnt
atggcgggtctgacggcggcggccccgcggcccggagtcctcctgctcctgctgtccatc
ctccacccctctcggcctggaggggtccctggggccattcctggtggagttcctggagga
gtcttttatccaggggctggtctcggagcccttggaggaggagcgctggggcctggaggc
aaacctcttaagccagttcccggagggcttgcgggtgctggccttggggcagggctcggc
gccttccccgcagttacctttccgggggctctggtgcctggtggagtggctgacgctgct
gcagcctataaagctgctaaggctggcgctgggcttggtggtgtcccaggagttggtggc
ttaggagtgtctgcaggtgcggtggttcctcagcctggagccggagtgaagcctgggaaa
gtgccgggtgtggggctgccaggtgtatacccaggtggcgtgctcccaggagctcggttc
cccggtgtgggggtgctccctggagttcccactggagcaggagttaagcccaaggctcca
ggtgtaggtggagcttttgctggaatcccaggagttggaccctttgggggaccgcaacct
ggagtcccactggggtatcccatcaaggcccccaagctgcctggtggctatggactgccc
tacaccacagggaaactgccctatggctatgggcccggaggagtggctggtgcagcgggc
aaggctggttacccaacagggacaggggttggcccccaggcagcagcagcagcggcagct
aaagcagcagcaaagttcggtgctggagcagccggagtcctccctggtgttggaggggct
ggtgttcctggcgtgcctggggcaattcctggaattggaggcatcgcaggcgttgggact
ccagctgcagctgcagctgcagcagcagccgctaaggcagccaagtatggagctgctgca
ggcttagtgcctggtgggccaggctttggcccgggagtagttggtgtcccaggagctggc
gttccaggtgttggtgtcccaggagctgggattccagttgtcccaggtgctgggatccca
ggtgctgcggttccaggggttgtgtcaccagaagcagctgctaaggcagctgcaaaggca
gccaaatacggggccaggcccggagtcggagttggaggcattcctacttacggggttgga
gctgggggctttcccggctttggtgtcggagtcggaggtatccctggagtcgcaggtgtc
cctggtgtcggaggtgttcccggagtcggaggtgtcccgggagttggcatttcccccgaa
gctcaggcagcagctgccgccaaggctgccaagtacggtgctgcaggagcaggagtgctg
ggtgggctagtgccaggtgccccaggcgcagtcccaggtgtgccgggcacgggaggagtg
ccaggagtggggaccccagcagctgcagctgctaaagcagccgccaaagccgcccagttt
gggttagttcctggtgtcggcgtggctcctggagttggcgtggctcctggtgtcggtgtg
gctcctggagttggcttggctcctggagttggcgtggctcctggagttggtgtggctcct
ggcgttggcgtggctcccggcattggccctggtggagttgcagctgcagcaaaatccgct
gccaaggtggctgccaaagcccagctccgagctgcagctgggcttggtgctggcatccct
ggacttggagttggtgtcggcgtccctggacttggagttggtgctggtgttcctggactt
ggagttggtgctggtgttcctggcttcggggcaggtgcagatgagggagttaggcggagc
ctgtcccctgagctcagggaaggagatccctcctcctctcagcacctccccagcaccccc
tcatcacccagggtacctggagccctggctgccgctaaagcagccaaatatggagcagca
gtgcctggggtccttggagggctcggggctctcggtggagtaggcatcccaggcggtgtg
gtgggagccggacccgccgccgccgctgccgcagccaaagctgctgccaaagccgcccag
tttggcctagtgggagccgctgggctcggaggactcggagtcggagggcttggagttcca
ggtgttgggggccttggaggtatacctccagctgcagccgctaaagcagctaaatacggt
gctgctggccttggaggtgtcctagggggtgccgggcagttcccacttggaggagtggca
gcaagacctggcttcggattgtctcccattttcccaggtggggcctgcctggggaaagct
tgtggccggaagagaaaatga

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (47)   
   KEGG ORTHOLOGY (1)   
   RefGene (35)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (29)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (27)   
DNA sequence (75)   
   RefSeq(nuc) (27)   
   GenBank (24)   
   EMBL (24)   
All databases (161)   

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