KEGG   Homo sapiens (human): 112752
Entry
112752            CDS       T01001                                 
Symbol
IFT43, C14orf179, CED3, RP81, SRTD18
Name
(RefSeq) intraflagellar transport 43
  KO
K19675  intraflagellar transport protein 43
Organism
hsa  Homo sapiens (human)
Disease
H00527  Retinitis pigmentosa
H00529  Cranioectodermal dysplasia
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]
    112752 (IFT43)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Intraflagellar transport (IFT) complex A
   112752 (IFT43)
SSDB
Motif
Pfam: IFT43
Other DBs
NCBI-GeneID: 112752
NCBI-ProteinID: NP_001096034
OMIM: 614068
HGNC: 29669
Ensembl: ENSG00000119650
UniProt: Q96FT9
Structure
Position
14:75985763..76084073
AA seq 208 aa
MEDLLDLDEELRYSLATSRAKMGRRAQQESAQAENHLNGKNSSLTLTGETSSAKLPRCRQ
GGWAGDSVKASKFRRKASEEIEDFRLRPQSLNGSDYGGDIPIIPDLEEVQEEDFVLQVAA
PPSIQIKRVMTYRDLDNDLMKYSAIQTLDGEIDLKLLTKVLAPEHEVREDDVGWDWDHLF
TEVSSEVLTEWDPLQTEKEDPAGQARHT
NT seq 627 nt   +upstreamnt  +downstreamnt
atggaggatttgctcgacttggacgaggagcttcgctacagcttggctacctccagggcc
aagatgggtcgccgagctcaacaggagtcagcgcaggccgagaatcacctcaatggcaag
aattcctctttgactctgactggagagacttcctctgctaaattacctcgctgccgacag
ggaggctgggcaggtgattccgtgaaggcttcgaagtttaggaggaaggcttctgaagaa
atagaagatttccgcctcagaccacagagcctgaatggatcagattatggaggagatatt
cctatcattccggatctggaggaagtacaggaagaagactttgttttgcaggtggcagcc
cctcccagcatccagataaagcgggtgatgacctaccgtgacctggacaatgacctcatg
aagtactcagccattcagacactggatggggagatcgacctgaaactcctcaccaaagtg
ctcgcgccggagcacgaagtccgggaggatgatgtcggctgggactgggaccatctgttc
actgaggtgtcctcagaggtcctcactgagtgggacccactgcagacggagaaggaggac
cctgcggggcaggccaggcacacctga

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