KEGG   Homo sapiens (human): 55112
Entry
55112             CDS       T01001                                 
Symbol
DYNC2I1, CFAP163, DIC6, FAP163, SRPS6, SRTD8, WDR60
Name
(RefSeq) dynein 2 intermediate chain 1
  KO
K22869  WD repeat-containing protein 60
Organism
hsa  Homo sapiens (human)
Disease
H00511  Short rib-polydactyly syndrome
H02157  Short-rib thoracic dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    55112 (DYNC2I1)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Dynein and associated proteins
   55112 (DYNC2I1)
SSDB
Motif
Pfam: WD40
Other DBs
NCBI-GeneID: 55112
NCBI-ProteinID: NP_060521
OMIM: 615462
HGNC: 21862
Ensembl: ENSG00000126870
UniProt: Q8WVS4 A0A140VK66
Structure
Position
7:158839245..158958698
AA seq 1066 aa
MEPGKRRTKDDTWKADDLRKHLWAIQSGGSKEERKHREKKLRKESEMDLPEHKEPRCRDP
DQDARSRDRVAEVHTAKESPRGERDRDRQRERRRDAKDREKEKLKEKHREAEKSHSRGKD
REKEKDRRARKEELRQTVAHHNLLGQETRDRQLLERAERKGRSVSKVRSEEKDEDSERGD
EDRERRYRERKLQYGDSKDNPLKYWLYKEEGERRHRKPREPDRDNKHREKSSTREKREKY
SKEKSNSFSDKGEERHKEKRHKEGFHFDDERHQSNVDRKEKSAKDEPRKRESQNGEHRNR
GASSKRDGTSSQHAENLVRNHGKDKDSRRKHGHEEGSSVWWKLDQRPGGEETVEIEKEET
DLENARADAYTASCEDDFEDYEDDFEVCDGDDDESSNEPESREKLEELPLAQKKEIQEIQ
RAINAENERIGELSLKLFQKRGRTEFEKEPRTDTNSSPSRASVCGIFVDFASASHRQKSR
TQALKQKMRSTKLLRLIDLDFSFTFSLLDLPPVNEYDMYIRNFGKKNTKQAYVQCNEDNV
ERDIQTEEIETREVWTQHPGESTVVSGGSEQRDTSDAVVMPKIDTPRLCSFLRAACQVMA
VLLEEDRLAAEPSWNLRAQDRALYFSDSSSQLNTSLPFLQNRKVSSLHTSRVQRQMVVSV
HDLPEKSFVPLLDSKYVLCVWDIWQPSGPQKVLICESQVTCCCLSPLKAFLLFAGTAHGS
VVVWDLREDSRLHYSVTLSDGFWTFRTATFSTDGILTSVNHRSPLQAVEPISTSVHKKQS
FVLSPFSTQEEMSGLSFHIASLDESGVLNVWVVVELPKADIAGSISDLGLMPGGRVKLVH
SALIQLGDSLSHKGNEFWGTTQTLNVKFLPSDPNHFIIGTDMGLISHGTRQDLRVAPKLF
KPQQHGIRPVKVNVIDFSPFGEPIFLAGCSDGSIRLHQLSSAFPLLQWDSSTDSHAVTGL
QWSPTRPAVFLVQDDTSNIYIWDLLQSDLGPVAKQQVSPNRLVAMAAVGEPEKAGGSFLA
LVLARASGSIDIQHLKRRWAAPEVDECNRLRLLLQEALWPEGKLHK
NT seq 3201 nt   +upstreamnt  +downstreamnt
atggagcccgggaagagaagaaccaaagatgatacctggaaagcagatgacctcagaaaa
catctctgggccatacagtcaggtggttccaaggaagaaagaaagcacagagagaagaag
ctgcgtaaggagtctgagatggaccttcctgaacataaggagccgaggtgcagggatccc
gaccaggatgccaggagcagagacagggtggccgaagtccacaccgctaaggagagtcct
cgtggggagagggacagagacagacagagggagaggagaagagacgcaaaagaccgggag
aaagaaaagctgaaggagaaacatcgagaggcagaaaagtctcacagcagaggaaaggac
agggaaaaagaaaaagacagaagggcccggaaggaagagctccggcagaccgtggcccac
cacaacctgctgggccaggagacacgcgaccggcagctcctggagcgggcggagaggaaa
ggccgctcagtaagtaaagtaagaagtgaagagaaagatgaagactctgaaagaggagat
gaagatagagaaagaagataccgagaaagaaagctgcagtacggagacagcaaggacaac
cctctcaagtactggctttataaagaagaaggcgagaggagacacaggaagcccagagag
ccagatcgagacaacaaacaccgagaaaaaagcagcacaagggaaaaaagagagaaatat
tccaaagagaaaagtaattcattctctgacaaaggggaagaaagacataaagaaaagcga
cacaaagaaggttttcattttgatgatgagaggcaccaaagcaacgtggatagaaaagag
aaatcggcaaaagatgagcccaggaaaagggaatcccagaatggtgaacacagaaatcga
ggtgcaagctcaaaaagagatgggaccagcagccagcatgctgagaatttagtaaggaat
catggaaaagataaagattcaagacggaagcatggccacgaggaaggctcttctgtgtgg
tggaagctggaccagaggccgggaggcgaggaaaccgtggaaattgaaaaggaagaaact
gatttagaaaatgctagagctgatgcatatacagccagttgtgaagatgattttgaagac
tatgaagatgactttgaggtttgtgatggtgatgatgatgaaagcagtaatgaacctgag
tcaagagaaaaactggaagaacttcctctagctcaaaaaaaggaaatacaagaaattcaa
agagctattaatgcagaaaatgaaaggattggcgagttatctttgaaactgtttcagaag
cgaggtagaacagaatttgaaaaggagcccaggacagatacaaacagttccccttccaga
gcctctgtttgtggaatttttgtggattttgcctcagcttcacaccgtcaaaagagtcgg
actcaggcccttaagcaaaagatgcgaagtacaaaactgcttcggctcattgacttagat
ttttcatttactttctctctcttggatctaccaccagtaaatgaatatgacatgtatatc
agaaactttgggaaaaaaaataccaagcaggcatatgttcagtgtaacgaagataatgtt
gaaagagacattcaaacggaggaaatagagaccagggaagtgtggacccagcacccggga
gaaagtactgttgtatctggaggcagtgaacaaagagatacctctgatgctgtagttatg
ccaaagattgatactccaaggttatgtagctttctgcgggctgcttgtcaggtgatggcc
gttttgctggaagaggatcgcttggcagctgaacccagctggaatcttagggctcaagac
agggccctgtattttagtgacagctcatctcagctgaacaccagtctaccattccttcaa
aatcgaaaagtatcctccttgcacacctcccgagttcagaggcagatggtggtctccgtt
cacgacttacccgagaagagctttgtgcccctgctggacagcaaatacgtcctctgtgtg
tgggatatttggcagccttcagggccacagaaagttctgatatgtgagtcccaggtcacg
tgttgctgcttgagccctttgaaagcatttttactgtttgccggaacagcgcacggctca
gttgtcgtctgggatttgagagaagactcaaggctgcattactctgtgacgctgagcgat
ggcttctggacgttccggaccgccacgttttccaccgatggaatccttacctcagtaaac
caccgaagccctcttcaagcagtagaacctatctcaacgtccgtccacaaaaagcagagc
tttgtgctttcacccttttctactcaagaagaaatgtcaggtttgtccttccacatcgct
tccttggatgagagtggggttctcaatgtatgggtggttgttgaattaccaaaggcagac
atcgcaggttcaataagtgatttaggtctgatgcctggagggagggtcaagctggtacat
agtgctctgatccagttgggtgacagtctttcccataaaggtaatgaattttggggcact
acacaaacactgaatgttaaatttctgccttcagatcctaatcactttattattggcaca
gacatgggtctcataagccatggcacaagacaagatttgagagtggctcccaaactattc
aaacctcagcaacatggtataagaccagtgaaagttaatgtcattgatttttcaccattt
ggagaaccaatatttttggccggctgttcggacggaagcatcaggctgcaccagctgagc
tccgcgtttccgctcctgcagtgggacagcagcacggacagccatgcggtcaccggcctg
cagtggtccccaaccaggcctgccgtgttcctggtgcaggacgacacatccaacatctac
atctgggacctcctccagagcgatctgggtcctgtcgccaaacagcaggtctcccccaac
aggctggtggccatggctgcggtgggtgagcctgagaaggctggtggcagcttcctggcc
ctggtgctggccagggcgtctggctccatcgacatccagcacctgaagaggcggtgggcg
gccccggaggtggacgagtgcaacaggctgcgtctgcttttgcaggaagccctgtggcca
gagggaaaactgcacaagtag

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