KEGG   Homo sapiens (human): 147372
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)
SSDB
Motif
Pfam: Collagen cEGF EGF_CA FXa_inhibition EGF Plasmod_Pvs28 hEGF EGF_Tme5 EGF_3
Other DBs
NCBI-GeneID: 147372
NCBI-ProteinID: NP_597716
OMIM: 612753
HGNC: 29426
Ensembl: ENSG00000183287
UniProt: Q6UXH8
Position
18:complement(59430939..59697721)
AA seq 406 aa
MVPPPPSRGGAARGQLGRSLGPLLLLLALGHTWTYREEPEDGDREICSESKIATTKYPCL
KSSGELTTCYRKKCCKGYKFVLGQCIPEDYDVCAEAPCEQQCTDNFGRVLCTCYPGYRYD
RERHRKREKPYCLDIDECASSNGTLCAHICINTLGSYRCECREGYIREDDGKTCTRGDKY
PNDTGHEKSENMVKAGTCCATCKEFYQMKQTVLQLKQKIALLPNNAADLGKYITGDKVLA
SNTYLPGPPGLPGGQGPPGSPGPKGSPGFPGMPGPPGQPGPRGSMGPMGPSPDLSHIKQG
RRGPVGPPGAPGRDGSKGERGAPGPRGSPGPPGSFDFLLLMLADIRNDITELQEKVFGHR
THSSAEEFPLPQEFPSYPEAMDLGSGDDHPRRTETRDLRAPRDFYP
NT seq 1221 nt   +upstreamnt  +downstreamnt
atggtgccgccgcctccgagccggggaggagctgccaggggccagctgggcaggagcctg
ggtccgctgctgctgctcctggcgttgggacacacgtggacctacagagaggagccggag
gacggcgacagagaaatctgctcagagagcaaaatcgcgacgactaaatacccgtgtctg
aagtcttcaggcgagctcaccacatgctacaggaaaaagtgctgcaaaggatataaattt
gttcttggacaatgcatcccagaagattacgacgtttgtgccgaggctccctgtgaacag
cagtgcacggacaactttggccgagtgctgtgtacttgttatccgggataccgatatgac
cgggagagacaccggaagcgggagaagccatactgtctggatattgatgagtgtgccagc
agcaatgggacgctgtgtgcccacatctgcatcaataccttgggcagctaccgctgcgag
tgccgggaaggctacatccgggaagatgatgggaagacatgtaccaggggagacaaatat
cccaatgacactggccatgagaagtctgagaacatggtgaaagccggaacttgctgtgcc
acatgcaaggagttctaccagatgaagcagaccgtgctgcagctgaagcaaaagattgct
ctgctccccaacaatgcagctgacctgggcaagtatatcactggtgacaaggtgctggcc
tcaaacacctaccttccaggacctcctggcctgcctgggggccagggccctcccggctca
ccaggaccaaagggaagcccaggcttccccggtatgccaggccctcctgggcagcccggc
ccacggggctcaatgggacccatgggaccatctcctgatctgtcccacattaagcaaggc
cggaggggccctgtgggtccaccaggggcaccaggaagagatggttctaagggggagaga
ggagcgcctgggcccagagggtctccaggaccccctggttctttcgacttcctgctactt
atgctggctgacatccgcaatgacatcactgagctgcaggaaaaggtgttcgggcaccgg
actcactcttcagcagaggagttccctttacctcaggaatttcccagctacccagaagcc
atggacctgggctctggagatgaccatccaagaagaactgagacaagagacttgagagcc
cccagagacttctacccatag

  All links  
Disease (2)   
   OMIM (2)   
Gene (11)   
   RefGene (5)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (12)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (10)   
DNA sequence (30)   
   RefSeq(nuc) (10)   
   GenBank (10)   
   EMBL (10)   
Protein domain (9)   
   Pfam (9)   
All databases (64)   

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