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
UniProt: P57679
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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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Network (4)   
   KEGG NETWORK (4)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (12)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (93)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (91)   
DNA sequence (106)   
   RefSeq(nuc) (92)   
   GenBank (7)   
   EMBL (7)   
Protein domain (1)   
   Pfam (1)   
All databases (233)   

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