KEGG   Homo sapiens (human): 55081
Entry
55081             CDS       T01001                                 

Gene name
IFT57, ESRRBL1, HIPPI, MHS4R2, OFD18
Definition
(RefSeq) intraflagellar transport 57
  KO
K04638  intraflagellar transport protein 57
Organism
hsa  Homo sapiens (human)
Pathway
hsa05016  Huntington disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06414  Apoptosis
nt06461  Huntington disease
  Element
N00983  Mutation-caused aberrant Htt to extrinsic apoptotic pathway
Disease
H00454  Oral-facial-digital syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09164 Neurodegenerative disease
   05016 Huntington disease
    55081 (IFT57)
   05022 Pathways of neurodegeneration - multiple diseases
    55081 (IFT57)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    55081 (IFT57)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Centrosome formation and ciliogenesis proteins
   Intraflagellar transport (IFT) complex B
    55081 (IFT57)
SSDB
Motif
Pfam: IFT57 MCPsignal Sec34 Exonuc_VII_L DUF1664
Other DBs
NCBI-GeneID: 55081
NCBI-ProteinID: NP_060480
OMIM: 606621
HGNC: 17367
Ensembl: ENSG00000114446
Vega: OTTHUMG00000159223
Pharos: Q9NWB7(Tbio)
UniProt: Q9NWB7
LinkDB
Position
3q13.12-q13.13
AA seq 429 aa
MTAALAVVTTSGLEDGVPRSRGEGTGEVVLERGPGAAYHMFVVMEDLVEKLKLLRYEEEF
LRKSNLKAPSRHYFALPTNPGEQFYMFCTLAAWLINKAGRPFEQPQEYDDPNATISNILS
ELRSFGRTADFPPSKLKSGYGEHVCYVLDCFAEEALKYIGFTWKRPIYPVEELEEESVAE
DDAELTLNKVDEEFVEEETDNEENFIDLNVLKAQTYHLDMNETAKQEDILESTTDAAEWS
LEVERVLPQLKVTIRTDNKDWRIHVDQMHQHRSGIESALKETKGFLDKLHNEITRTLEKI
SSREKYINNQLENLVQEYRAAQAQLSEAKERYQQGNGGVTERTRLLSEVMEELEKVKQEM
EEKGSSMTDGAPLVKIKQSLTKLKQETVEMDIRIGIVEHTLLQSKLKEKSNMTRNMHATV
IPEPATGFY
NT seq 1290 nt   +upstreamnt  +downstreamnt
atgactgctgctctggccgtcgtcacgacgtcgggtttggaagatggggtgcctaggtcc
cgtggcgaagggaccggggaagtggtcttggagcgggggcccggcgcggcctaccacatg
ttcgtggtgatggaggacttggtggagaagctgaagctgctccgctacgaggaggagttc
ctccggaagagcaacctgaaggccccgtccagacactattttgcactgcctaccaaccct
ggcgaacagttctacatgttttgtactcttgctgcttggttgattaataaagcgggacgt
ccctttgagcagcctcaagaatatgatgaccctaatgcaacaatatctaacatactatcc
gagcttcggtcatttggaagaactgcagattttcctccttcaaaattaaagtcaggttat
ggagaacatgtatgctatgttcttgattgcttcgctgaagaagcattgaaatatattggt
ttcacctggaaaaggccaatatacccagtagaagaattagaagaagaaagcgttgcagaa
gatgatgcagaattaacattaaataaagtggatgaagaatttgtggaagaagagacagat
aatgaagaaaactttattgatctcaacgttttaaaggcccagacatatcacttggatatg
aacgagactgccaaacaagaagatattttggaatccacaacagatgctgcagaatggagc
ctagaagtggaacgtgtactaccgcaactgaaagtcacgattaggactgacaataaggat
tggagaatccatgttgaccaaatgcaccagcacagaagtggaattgaatctgctctaaag
gagaccaagggatttttggacaaactccataatgaaattactaggactttggaaaagatc
agcagccgagaaaagtacatcaacaatcagcttgagaatttggttcaagaatatcgtgca
gctcaagcccagctgagtgaggcaaaggagcgataccagcagggaaatggaggagtgacg
gaaagaaccagactcctctctgaggttatggaagaattagaaaaggtaaaacaagaaatg
gaagaaaagggcagcagcatgactgatggtgctcctttggtgaagattaaacagagctta
acaaaactgaagcaagaaactgtagagatggacattagaattggcattgtggaacacaca
ctactccaatcaaagctgaaggagaagtccaacatgactaggaacatgcatgccacagtt
attccagaaccagcaacaggcttttattaa

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