KEGG   Homo sapiens (human): 80173
Entry
80173             CDS       T01001                                 
Symbol
IFT74, BBS22, CCDC2, CMG-1, CMG1, JBTS40, SPGF58
Name
(RefSeq) intraflagellar transport 74
  KO
K19679  intraflagellar transport protein 74
Organism
hsa  Homo sapiens (human)
Disease
H00418  Bardet-Biedl syndrome
H00530  Joubert syndrome and related disorders
H01282  Spermatogenic failure
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   03037 Cilium and associated proteins [BR:hsa03037]
    80173 (IFT74)
Cilium and associated proteins [BR:hsa03037]
 Primary cilia and associated proteins
  Intraflagellar transport (IFT) complex B1
   80173 (IFT74)
SSDB
Motif
Pfam: Spectrin
Other DBs
NCBI-GeneID: 80173
NCBI-ProteinID: NP_001092692
OMIM: 608040
HGNC: 21424
Ensembl: ENSG00000096872
UniProt: Q96LB3
Position
9:26947110..27066134
AA seq 600 aa
MASNHKSSAARPVSRGGVGLTGRPPSGIRPLSGNIRVATAMPPGTARPGSRGCPIGTGGV
LSSQIKVAHRPVTQQGLTGMKTGTKGPQRQILDKSYYLGLLRSKISELTTEVNKLQKGIE
MYNQENSVYLSYEKRAETLAVEIKELQGQLADYNMLVDKLNTNTEMEEVMNDYNMLKAQN
DRETQSLDVIFTERQAKEKQIRSVEEEIEQEKQATDDIIKNMSFENQVKYLEMKTTNEKL
LQELDTLQQQLDSQNMKKESLEAEIAHSQVKQEAVLLHEKLYELESHRDQMIAEDKSIGS
PMEEREKLLKQIKDDNQEIASMERQLTDTKEKINQFIEEIRQLDMDLEEHQGEMNQKYKE
LKKREEHMDTFIETFEETKNQELKRKAQIEANIVALLEHCSRNINRIEQISSITNQELKM
MQDDLNFKSTEVQKSQSTAQNLTSDIQRLQLDLQKMELLESKMTEEQHSLKSKIKQMTTD
LEIYNDLPALKSSGEEKIKKLHQERMILSTHRNAFKKIMEKQNIEYEALKTQLQENETHS
QLTNLERKWQHLEQNNFAMKEFIATKSQESDYQPIKKNVTKQIAEYNKTIVDALHSTSGN
NT seq 1803 nt   +upstreamnt  +downstreamnt
atggccagcaatcacaaatcttcagcagctcgccctgtttcaagaggtggagttgggtta
acaggaaggcctccttctgggatacgacccctatcaggaaatattcgagtggcaactgca
atgccacctgggacagcaagaccaggttctcgtggttgtcccatagggactggtggagtt
ctgtcttctcaaatcaaagttgcccatcgccctgtaacacaacaaggtttgactggaatg
aaaactgggacgaaaggtccccagaggcaaattttagacaaatcttactatcttgggctt
cttagaagtaaaataagtgaacttacaactgaagttaataaacttcagaagggaatagaa
atgtacaatcaagagaattcagtatatttgtcatatgaaaagagggctgagactttagct
gttgagataaaagagcttcaaggacaactagcagactacaacatgttggtagataaactt
aataccaacactgaaatggaagaagtaatgaatgattacaatatgcttaaagctcaaaat
gatcgagaaacacaaagtttggatgtcatatttactgaaagacaagcgaaagaaaaacaa
atcagaagtgtcgaagaagaaattgaacaggaaaaacaagcaacagatgacattatcaaa
aatatgtcttttgaaaaccaagtcaagtacctagagatgaaaaccacaaatgagaaactg
ttacaggaattagatacacttcaacaacaattggattcacagaacatgaaaaaagagagc
ctggaagcagaaatagctcactcccaggtgaaacaggaggcggtattgctgcatgaaaaa
ctttatgagttggagtcccatcgagatcaaatgattgcagaagacaaaagcataggatct
ccaatggaagagagagagaaattacttaagcagattaaagatgataatcaggaaatagcc
agcatggaaagacagttaacagatacaaaagaaaagataaatcagtttattgaagaaatt
agacaacttgacatggatttagaggaacaccaaggtgaaatgaaccagaaatacaaggag
ctaaagaaaagggaggaacatatggacacttttattgagacttttgaggaaacaaagaat
caggaactgaaacgaaaggcacagatagaagccaacattgttgcactcttggagcactgc
agtcgaaatataaatcgtatagaacagatatcctctatcaccaatcaagagctaaagatg
atgcaggatgacctcaattttaaatctactgaagtgcagaaatcacaaagtacagctcag
aatttgacttcagacattcaacgtctgcagttggatctgcagaaaatggagcttctagaa
agtaagatgactgaagaacagcattctctaaaaagcaaaattaagcaaatgacaactgat
ctggagatatataatgatttgccagctttaaaatcatcaggtgaagaaaagataaagaaa
ttacatcaggagagaatgatattatcaacccacagaaatgcctttaagaaaataatggag
aagcaaaacatagagtatgaggcactaaaaacacaattgcaagaaaatgagacacattct
cagcttacaaatttggagagaaagtggcaacaccttgagcaaaataattttgcgatgaaa
gaattcatagcaaccaagagtcaagagagtgattaccagccaattaagaaaaatgtgacc
aagcagattgcagagtacaataaaaccatcgtggatgctttacatagcaccagcggaaac
tga

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Ontology (2)   
   KEGG BRITE (2)   
Disease (7)   
   KEGG DISEASE (3)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (39)   
   KEGG ORTHOLOGY (1)   
   RefGene (31)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (7)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (5)   
DNA sequence (41)   
   RefSeq(nuc) (5)   
   GenBank (18)   
   EMBL (18)   
Protein domain (1)   
   Pfam (1)   
All databases (98)   

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