Homo sapiens (human): 2006
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Entry
2006 CDS
T01001
Symbol
ELN, ADCL1, SVAS, WBS, WS
Name
(RefSeq) elastin
KO
K14211
elastin
Organism
hsa
Homo sapiens (human)
Pathway
hsa04820
Cytoskeleton in muscle cells
hsa04974
Protein digestion and absorption
Network
nt06528
Calcium signaling
Element
N01646
Regulation of SERCA
Disease
H00553
Congenital supravalvular aortic stenosis
H00557
Cutis laxa
H01439
Williams-Beuren syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09142 Cell motility
04820 Cytoskeleton in muscle cells
2006 (ELN)
09150 Organismal Systems
09154 Digestive system
04974 Protein digestion and absorption
2006 (ELN)
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NCBI-GeneID:
2006
NCBI-ProteinID:
NP_001265868
OMIM:
130160
HGNC:
3327
Ensembl:
ENSG00000049540
UniProt:
P15502
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Position
7:74028173..74069907
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AA seq
786 aa
AA seq
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MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGG
KPLKPVPGGLAGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGG
LGVSAGAVVPQPGAGVKPGKVPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAP
GVGGAFAGIPGVGPFGGPQPGVPLGYPIKAPKLPGGYGLPYTTGKLPYGYGPGGVAGAAG
KAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGAGVPGVPGAIPGIGGIAGVGT
PAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAGIPVVPGAGIP
GAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV
PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGAPGAVPGVPGTGGV
PGVGTPAAAAAKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAP
GVGVAPGIGPGGVAAAAKSAAKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGL
GVGAGVPGFGAGADEGVRRSLSPELREGDPSSSQHLPSTPSSPRVPGALAAAKAAKYGAA
VPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQFGLVGAAGLGGLGVGGLGVP
GVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPIFPGGACLGKA
CGRKRK
NT seq
2361 nt
NT seq
+upstream
nt +downstream
nt
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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