KEGG   Homo sapiens (human): 2006Help
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]
 Organismal Systems
  Digestive system
   04974 Protein digestion and absorption
    2006 (ELN)
BRITE hierarchy
SSDB OrthologParalogGFIT
Other DBs
NCBI-GeneID: 2006
NCBI-ProteinID: NP_001265844
OMIM: 130160
HGNC: 3327
Ensembl: ENSG00000049540
Vega: OTTHUMG00000150229
Pharos: P15502(Tbio)
UniProt: P15502
Position
7q11.23
AA seq 730 aa AA seqDB search
MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGG
KPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGG
LGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAP
GVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG
KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGT
PAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIP
GAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV
PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGVGTPAAAAAKAAAKAAQFALLNLAGLV
PGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSAAKV
AAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAVPGALAAAKAAK
YGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGG
LGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGAC
LGKACGRKRK
NT seq 2193 nt NT seq  +upstreamnt  +downstreamnt
atggcgggtctgacggcggcggccccgcggcccggagtcctcctgctcctgctgtccatc
ctccacccctctcggcctggaggggtccctggggccattcctggtggagttcctggagga
gtcttttatccaggggctggtctcggagcccttggaggaggagcgctggggcctggaggc
aaacctcttaagccagttcccggagggcttgcgggtgctggccttggggcagggctcggc
gccttccccgcagttacctttccgggggctctggtgcctggtggagtggctgacgctgct
gcagcctataaagctgctaaggctggcgctgggcttggtggtgtcccaggagttggtggc
ttaggagtgtctgcaggtgcggtggttcctcagcctggagccggagtgaagcctgggaaa
gtgccgggtgtggggctgccaggtgtatacccaggtggcgtgctcccaggagctcggttc
cccggtgtgggggtgctccctggagttcccactggagcaggagttaagcccaaggctcca
ggtgtaggtggagcttttgctggaatcccaggagttggaccctttgggggaccgcaacct
ggagtcccactggggtatcccatcaaggcccccaagctgcctggtggctatggactgccc
tacaccacagggaaactgccctatggctatgggcccggaggagtggctggtgcagcgggc
aaggctggttacccaacagggacaggggttggcccccaggcagcagcagcagcggcagct
aaagcagcagcaaagttcggtgctggagcagccggagtcctccctggtgttggaggggct
ggtgttcctggcgtgcctggggcaattcctggaattggaggcatcgcaggcgttgggact
ccagctgcagctgcagctgcagcagcagccgctaaggcagccaagtatggagctgctgca
ggcttagtgcctggtgggccaggctttggcccgggagtagttggtgtcccaggagctggc
gttccaggtgttggtgtcccaggagctgggattccagttgtcccaggtgctgggatccca
ggtgctgcggttccaggggttgtgtcaccagaagcagctgctaaggcagctgcaaaggca
gccaaatacggggccaggcccggagtcggagttggaggcattcctacttacggggttgga
gctgggggctttcccggctttggtgtcggagtcggaggtatccctggagtcgcaggtgtc
cctggtgtcggaggtgttcccggagtcggaggtgtcccgggagttggcatttcccccgaa
gctcaggcagcagctgccgccaaggctgccaagtacggagtggggaccccagcagctgca
gctgctaaagcagccgccaaagccgcccagtttgctcttctcaatcttgcagggttagtt
cctggtgtcggcgtggctcctggagttggcgtggctcctggtgtcggtgtggctcctgga
gttggcttggctcctggagttggcgtggctcctggagttggtgtggctcctggcgttggc
gtggctcccggcattggccctggtggagttgcagctgcagcaaaatccgctgccaaggtg
gctgccaaagcccagctccgagctgcagctgggcttggtgctggcatccctggacttgga
gttggtgtcggcgtccctggacttggagttggtgctggtgttcctggacttggagttggt
gctggtgttcctggcttcggggcagtacctggagccctggctgccgctaaagcagccaaa
tatggagcagcagtgcctggggtccttggagggctcggggctctcggtggagtaggcatc
ccaggcggtgtggtgggagccggacccgccgccgccgctgccgcagccaaagctgctgcc
aaagccgcccagtttggcctagtgggagccgctgggctcggaggactcggagtcggaggg
cttggagttccaggtgttgggggccttggaggtatacctccagctgcagccgctaaagca
gctaaatacggtgctgctggccttggaggtgtcctagggggtgccgggcagttcccactt
ggaggagtggcagcaagacctggcttcggattgtctcccattttcccaggtggggcctgc
ctggggaaagcttgtggccggaagagaaaatga

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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 (48)   
   KEGG ORTHOLOGY (1)   
   RefGene (35)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   UniGene (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 (162)   

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