Names & Taxonomy

Uniprot ID:
Q9UG01
Entry Name:
IF172_HUMAN
Status:
reviewed
Protein Names:
Intraflagellar transport protein 172 homolog
Gene Names:
IFT172 KIAA1179
Gene Names Primary:
IFT172
Organism:
Homo sapiens (Human)

Structure

Length:
1749
Sequence:
MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMKAVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDFQDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTGVRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGGLPSTSFSFQ
Proteomes:
UP000005640

Subcellular location

Subcellular Location:
Cell projection, cilium

Function

Function:
Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).
Gene Ontology Go:
axoneme
ciliary basal body
ciliary tip
cilium
extracellular vesicle
intraciliary transport particle B
primary cilium
sperm cytoplasmic droplet
sperm midpiece
sperm principal piece
bone development
brain development
cilium assembly
cytoplasmic microtubule organization
dorsal/ventral pattern formation
epidermis development
heart looping
hindgut development
left/right axis specification
limb development
negative regulation of epithelial cell proliferation
neural tube closure
Notch signaling pathway
organelle organization
palate development
positive regulation of smoothened signaling pathway
protein processing
smoothened signaling pathway
spinal cord motor neuron differentiation
Gene Ontology Biological Process:
bone development
brain development
cilium assembly
cytoplasmic microtubule organization
dorsal/ventral pattern formation
epidermis development
heart looping
hindgut development
left/right axis specification
limb development
negative regulation of epithelial cell proliferation
neural tube closure
Notch signaling pathway
organelle organization
palate development
positive regulation of smoothened signaling pathway
protein processing
smoothened signaling pathway
spinal cord motor neuron differentiation
Gene Ontology Cellular Component:
axoneme
ciliary basal body
ciliary tip
cilium
extracellular vesicle
intraciliary transport particle B
primary cilium
sperm cytoplasmic droplet
sperm midpiece
sperm principal piece
Keywords:
Acetylation
Alternative splicing
Cell projection
Ciliopathy
Cilium
Complete proteome
Developmental protein
Disease mutation
Isopeptide bond
Polymorphism
Reference proteome
Repeat
Retinitis pigmentosa
TPR repeat
Ubl conjugation
WD repeat

Publication

PubMed ID:
15815621 15489334 17974005 10574461 20388717 24140113 25168386