Homo sapiens (human): 147372
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Entry
147372 CDS
T01001
Symbol
CCBE1, HKLLS1
Name
(RefSeq) collagen and calcium binding EGF domains 1
KO
K19638
collagen and calcium-binding EGF domain-containing protein 1
Organism
hsa
Homo sapiens (human)
Disease
H02169
Hennekam lymphangiectasia-lymphedema syndrome
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09190 Not Included in Pathway or Brite
09193 Unclassified: signaling and cellular processes
99995 Signaling proteins
147372 (CCBE1)
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Gene cluster
GFIT
Motif
Pfam:
Collagen
cEGF
EGF_CA
FXa_inhibition
EGF
Plasmod_Pvs28
hEGF
EGF_Tme5
EGF_3
Motif
Other DBs
NCBI-GeneID:
147372
NCBI-ProteinID:
NP_597716
OMIM:
612753
HGNC:
29426
Ensembl:
ENSG00000183287
UniProt:
Q6UXH8
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Position
18:complement(59430939..59697721)
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AA seq
406 aa
AA seq
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MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCL
KSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYD
RERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKY
PNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLA
SNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQG
RRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHR
THSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP
NT seq
1221 nt
NT seq
+upstream
nt +downstream
nt
atggtgccgccgcctccgagccggggaggagctgccaggggccagctgggcaggagcctg
ggtccgctgctgctgctcctggcgttgggacacacgtggacctacagagaggagccggag
gacggcgacagagaaatctgctcagagagcaaaatcgcgacgactaaatacccgtgtctg
aagtcttcaggcgagctcaccacatgctacaggaaaaagtgctgcaaaggatataaattt
gttcttggacaatgcatcccagaagattacgacgtttgtgccgaggctccctgtgaacag
cagtgcacggacaactttggccgagtgctgtgtacttgttatccgggataccgatatgac
cgggagagacaccggaagcgggagaagccatactgtctggatattgatgagtgtgccagc
agcaatgggacgctgtgtgcccacatctgcatcaataccttgggcagctaccgctgcgag
tgccgggaaggctacatccgggaagatgatgggaagacatgtaccaggggagacaaatat
cccaatgacactggccatgagaagtctgagaacatggtgaaagccggaacttgctgtgcc
acatgcaaggagttctaccagatgaagcagaccgtgctgcagctgaagcaaaagattgct
ctgctccccaacaatgcagctgacctgggcaagtatatcactggtgacaaggtgctggcc
tcaaacacctaccttccaggacctcctggcctgcctgggggccagggccctcccggctca
ccaggaccaaagggaagcccaggcttccccggtatgccaggccctcctgggcagcccggc
ccacggggctcaatgggacccatgggaccatctcctgatctgtcccacattaagcaaggc
cggaggggccctgtgggtccaccaggggcaccaggaagagatggttctaagggggagaga
ggagcgcctgggcccagagggtctccaggaccccctggttctttcgacttcctgctactt
atgctggctgacatccgcaatgacatcactgagctgcaggaaaaggtgttcgggcaccgg
actcactcttcagcagaggagttccctttacctcaggaatttcccagctacccagaagcc
atggacctgggctctggagatgaccatccaagaagaactgagacaagagacttgagagcc
cccagagacttctacccatag
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