Homo sapiens (human): 80173
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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)
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Gene cluster
GFIT
Motif
Pfam:
Spectrin
Motif
Other DBs
NCBI-GeneID:
80173
NCBI-ProteinID:
NP_001092692
OMIM:
608040
HGNC:
21424
Ensembl:
ENSG00000096872
UniProt:
Q96LB3
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Position
9:26947110..27066134
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AA seq
600 aa
AA seq
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MASNHKSSAARPVSRGGVGLTGRPPSGIRPLSGNIRVATAMPPGTARPGSRGCPIGTGGV
LSSQIKVAHRPVTQQGLTGMKTGTKGPQRQILDKSYYLGLLRSKISELTTEVNKLQKGIE
MYNQENSVYLSYEKRAETLAVEIKELQGQLADYNMLVDKLNTNTEMEEVMNDYNMLKAQN
DRETQSLDVIFTERQAKEKQIRSVEEEIEQEKQATDDIIKNMSFENQVKYLEMKTTNEKL
LQELDTLQQQLDSQNMKKESLEAEIAHSQVKQEAVLLHEKLYELESHRDQMIAEDKSIGS
PMEEREKLLKQIKDDNQEIASMERQLTDTKEKINQFIEEIRQLDMDLEEHQGEMNQKYKE
LKKREEHMDTFIETFEETKNQELKRKAQIEANIVALLEHCSRNINRIEQISSITNQELKM
MQDDLNFKSTEVQKSQSTAQNLTSDIQRLQLDLQKMELLESKMTEEQHSLKSKIKQMTTD
LEIYNDLPALKSSGEEKIKKLHQERMILSTHRNAFKKIMEKQNIEYEALKTQLQENETHS
QLTNLERKWQHLEQNNFAMKEFIATKSQESDYQPIKKNVTKQIAEYNKTIVDALHSTSGN
NT seq
1803 nt
NT seq
+upstream
nt +downstream
nt
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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