KEGG   Homo sapiens (human): 2121
Entry
2121              CDS       T01001                                 
Symbol
EVC, DWF-1, EVC1, EVCL
Name
(RefSeq) EvC ciliary complex subunit 1
  KO
K19605  ellis van creveld syndrome protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04340  Hedgehog signaling pathway
Network
nt06217  HH signaling (cancer)
nt06269  Basal cell carcinoma
nt06501  HH signaling
  Element
N00062  Hedgehog signaling pathway
Disease
H00503  Ellis-van Creveld syndrome
H01376  Acrofacial dysostosis
H02158  Weyers acrofacial dysostosis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04340 Hedgehog signaling pathway
    2121 (EVC)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    2121 (EVC)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  EVC complex
   2121 (EVC)
SSDB
Motif
Pfam: BORCS6
Other DBs
NCBI-GeneID: 2121
NCBI-ProteinID: NP_714928
OMIM: 604831
HGNC: 3497
Ensembl: ENSG00000072840
Pharos: P57679(Tbio)
UniProt: P57679
LinkDB
Position
4:5711201..5829057
AA seq 992 aa
MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGLWLGCRAGRQRTRHQKD
DTQNLLKNLESNAQTPSETGSPSRRRKREVQMSKDKEAVDECEPPSNSNITAFALKAKVI
YPINQKFRPLADGSSNPSLHENLKQAVLPHQPVEASPSSSLGSLSQGEKDDCSSSSSVHS
ATSDDRFLSRTFLRVNAFPEVLACESVDVDLCIYSLHLKDLLHLDTALRQEKHMMFIQIF
KMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGLQVKLSNTEMSGAGDSEYITLADVE
KKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKCSSSKARQLMMTLTERMIAAEGLLCDS
QELQALDALERTMGRAHMAKVIEFLKLQVQEETRCRLAAISHGLELLAGEGKLSGRQKEE
LLTQQHKAFWQEAERFSREFVQRGKDLVTASLAHQVEGTAKLTLAQEEEQRSFLAEAQPT
ADPEKFLEAFHEVLERQRLMQCDLEEEENVRATEAVVALCQELYFSTVDTFQKFVDALFL
QTLPGMTGLPPEECDYLRQEVQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECAL
SSVLQTHLREDHEGTIRGVLGRLGGLTEESTRCVLQGHDLLLRSALRRLALRGNALATLT
QMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALEARVLEEASRLEEEAQQTRLQ
LQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRTLMEAAVESVY
VTSAGVSRLVQAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRT
AGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQ
NFISELAALARVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQT
SGSLSSKRLSQQESEAGDSGNSKKMLKRRSNL
NT seq 2979 nt   +upstreamnt  +downstreamnt
atggcccgcggcggggcggcctgcaagagcgacgcgcggctgctgctggggcgggacgcg
ctgcggccggcgcccgccctgctggcccccgccgtgctgctgggcgccgcgctcggcctc
ggcctcggcctttggcttggctgccgcgcgggccgccagcgcacgcgacaccagaaagac
gacactcaaaatctgctcaagaatttggagtctaatgcgcagaccccctcggaaactggc
tccccatcaaggaggaggaagagagaagtgcagatgtcgaaggacaaggaagctgttgat
gaatgtgagccgccttccaacagcaatatcacagcattcgccctgaaggccaaagtcatc
taccccatcaatcagaagttccggcctctggccgatggctcctccaacccgtctctgcat
gaaaacttaaagcaggctgttttgccacaccagccggtagaggcctctccttccagcagt
ctggggagcctgagccagggtgagaaggacgactgcagctcctcatccagcgtccactcg
gccaccagcgatgacaggtttctcagccgcaccttcctccgggtgaacgccttccctgaa
gtgctggcctgcgagagtgtagacgttgacctgtgtatctacagccttcacttaaaagac
ctgctgcatttggacacggcactgaggcaggaaaagcatatgatgtttattcagattttt
aaaatgtgcctccttgaccttcttcctaaaaagaagtcagatgatgaactataccagaag
atcctttcaaaacaagaaaaagatttggaggaactagaaaagggacttcaggtcaaactg
tcaaacacagaaatgtcgggggctggtgactctgagtacatcaccctggctgatgtggaa
aagaaggagagagaatactctgaacagctaatcgataatatggaagctttctggaaacag
atggcaaatatccagcactttcttgtggaccagtttaagtgttccagctccaaagcccga
cagctgatgatgactctgacggaaagaatgattgcagccgaagggctattgtgcgattct
caggagctgcaggctctggacgccctggagaggacgatggggcgggcgcacatggcaaaa
gtgattgagtttctgaagctgcaagtccaggaggagaccaggtgccggctggctgccatc
tcccacggcctggagctgctggctggtgaggggaagctgtccgggcggcagaaggaggag
ctgctcacgcagcagcacaaggccttctggcaggaggcagagcgcttcagccgggagttt
gtccagcgaggcaaagacctggtcacggcgtctctggctcaccaggtggagggaacggca
aaactcacgctggcccaagaggaggaacagagaagcttcctggctgaggcccagccgact
gctgacccggaaaagtttctcgaggcttttcatgaggtcctggagaggcagaggctgatg
cagtgtgacctggaggaagaggagaatgtcagagccaccgaggctgtggttgcactctgc
caggagctgtacttcagcaccgtggacactttccagaagttcgtggatgccctgttcctt
cagacgctccctggcatgactggcctccccccggaagagtgtgactacttgaggcaggaa
gtccaggagaacgctgcctggcagctggggaagtcaaatcgcttccggaggcagcagtgg
aaactcttccaggagctcctagagcaagaccagcaggtgtggatggaggagtgtgcgctg
tccagcgtgctgcagacacacctgcgggaggaccacgagggcaccatccgcggcgtcttg
ggccgactgggcggcctcactgaagagtccacgcggtgtgtcctgcaggggcatgacctg
ctgttgcgctcagccctccggaggctggcactccgcggcaacgccctggccaccctgacg
cagatgcggctatcggggaagaagcacctcctgcaggagctgcgggaacagcgtgcactg
gagcaggggtcctcccagtgcctggacgagcatcagtggcagctgctcagggccctggag
gcgcgtgtgctggaggaggccagccggctagaggaggaagcacagcagacacggctgcag
ctccagcagcggctcctggccgaggcccaggaggtggggcagcttctgcagcagcacatg
gagtgcgccattgggcaggcgctgctggtgcatgcacggaatgcagccaccaagagccgg
gccaaggacagggatgacttcaagaggacactgatggaggcggcagtggagagcgtctac
gtgaccagcgctggtgtcagccgcctggtgcaggcgtattaccagcaaatcggaaggatc
atggaggaccacgaggagagaaaactgcagcacctgaagaccctgcagggtgagaggatg
gaaaattacaaactgcggaaaaagcaagaactcagcaacccttcgtcgggcagcaggacg
gcaggtggcgctcatgagacctcccaggcggtccaccagaggatgctgtcccagcagaag
aggttcctggcccagttcccagtgcaccagcagatgcgtctgcacgcccagcagcagcag
gcaggagtcatggaccttctggaagcccagctggagacccagctacaggaagctgaacag
aacttcatctccgagctggcagccttggcccgagtgccccttgctgaaagcaaactgttg
cctgctaagcgtgggctgctagagaagcccctaaggactaaaaggaagaagcccctgccc
caggaaagaggggacctgggggtgcccaacaatgaggaccttgcctccggggaccagacc
tcaggctcactcagcagcaaaaggctgagtcagcaagaaagtgaagctggggacagtggg
aactcaaagaagatgctaaagagaagaagcaacttgtag

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