Q9UG01 · IF172_HUMAN
- ProteinIntraflagellar transport protein 172 homolog
- GeneIFT172
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids1749 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
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).
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameIntraflagellar transport protein 172 homolog
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9UG01
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Note: Localized to the axoneme and around the base of the cilium.
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)
- Note
- DescriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
- See alsoMIM:615630
Natural variants in SRTD10
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_070956 | 296 | R>W | in SRTD10; dbSNP:rs145541911 | |
VAR_070957 | 411 | I>N | in SRTD10; dbSNP:rs587777085 | |
VAR_070958 | 464-465 | missing | in SRTD10 | |
VAR_070959 | 1536 | L>P | in SRTD10; dbSNP:rs587777080 | |
VAR_070960 | 1544 | R>C | in SRTD10; dbSNP:rs587777079 | |
VAR_070961 | 1727 | C>R | in SRTD10; dbSNP:rs149614625 |
Retinitis pigmentosa 71 (RP71)
- Note
- DescriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
- See alsoMIM:616394
Natural variants in RP71
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_073800 | 257 | L>P | in RP71; represents a null allele; dbSNP:rs786205857 | |
VAR_073802 | 1605 | D>E | in RP71; hypomorphic mutation; dbSNP:rs786205856 |
Bardet-Biedl syndrome 20 (BBS20)
- Note
- DescriptionA form of Bardet-Biedl syndrome, a syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
- See alsoMIM:619471
Natural variants in BBS20
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_086152 | 493 | L>R | in BBS20; uncertain significance; dbSNP:rs1282056614 | |
VAR_086153 | 719 | H>Y | in BBS20; uncertain significance; dbSNP:rs144645349 | |
VAR_073801 | 1567 | H>Q | in BBS20; hypomorphic mutation; dbSNP:rs786205855 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_073800 | 257 | in RP71; represents a null allele; dbSNP:rs786205857 | |||
Sequence: L → P | ||||||
Natural variant | VAR_070956 | 296 | in SRTD10; dbSNP:rs145541911 | |||
Sequence: R → W | ||||||
Natural variant | VAR_070957 | 411 | in SRTD10; dbSNP:rs587777085 | |||
Sequence: I → N | ||||||
Natural variant | VAR_070958 | 464-465 | in SRTD10 | |||
Sequence: Missing | ||||||
Natural variant | VAR_086152 | 493 | in BBS20; uncertain significance; dbSNP:rs1282056614 | |||
Sequence: L → R | ||||||
Natural variant | VAR_086153 | 719 | in BBS20; uncertain significance; dbSNP:rs144645349 | |||
Sequence: H → Y | ||||||
Natural variant | VAR_042581 | 953 | in dbSNP:rs704793 | |||
Sequence: R → H | ||||||
Natural variant | VAR_070959 | 1536 | in SRTD10; dbSNP:rs587777080 | |||
Sequence: L → P | ||||||
Natural variant | VAR_070960 | 1544 | in SRTD10; dbSNP:rs587777079 | |||
Sequence: R → C | ||||||
Natural variant | VAR_073801 | 1567 | in BBS20; hypomorphic mutation; dbSNP:rs786205855 | |||
Sequence: H → Q | ||||||
Natural variant | VAR_073802 | 1605 | in RP71; hypomorphic mutation; dbSNP:rs786205856 | |||
Sequence: D → E | ||||||
Natural variant | VAR_070961 | 1727 | in SRTD10; dbSNP:rs149614625 | |||
Sequence: C → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 1,924 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for modified residue, chain, cross-link.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Modified residue | 1 | N-acetylmethionine | ||||
Sequence: M | ||||||
Chain | PRO_0000328941 | 1-1749 | Intraflagellar transport protein 172 homolog | |||
Sequence: MHLKHLRTLLSPQDGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKFSTKPADMKYGRKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKKVICNKFIQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTIYGTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQGKLVNHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFDYSRDPQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEAKPKEITNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYKNKFELTYVGPSQVIVKNLSSGTRVVLKSHYGYEVEEVKILGKERYLVAHTSETLLLGDLNTNRLSEIAWQGSGGNEKYFFENENVCMIFNAGELTLVEYGNNDTLGSVRTEFMNPHLISVRINERCQRGTEDNKKLAYLIDIKTIAIVDLIGGYNIGTVSHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKTMILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVTMFTIRGDVIGLERGGGKTEVMVMEGVTTVAYTLDEGLIEFGTAIDDGNYIRATAFLETLEMTPETEAMWKTLSKLALEARQLHIAERCFSALGQVAKARFLHETNEIADQVSREYGGEGTDFYQVRARLAMLEKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECIAVAEAKGHPALEKLRRSYYQWLMDTQQEERAGELQESQGDGLAAISLYLKAGLPAKAARLVLTREELLANTELVEHITAALIKGELYERAGDLFEKIHNPQKALECYRKGNAFMKAVELARLAFPVEVVKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAIEAALGARQWKKAIYILDLQDRNTASKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAIDMYTQAGRWEQAHKLAMKCMRPEDVSVLYITQAQEMEKQGKYREAERLYVTVQEPDLAITMYKKHKLYDDMIRLVGKHHPDLLSDTHLHLGKELEAEGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAYRVARTQGGANAHKHVAYLWAKSLGGEAAVRLLNKLGLLEAAVDHAADNCSFEFAFELSRLALKHKTPEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAVLMFVHNQDWEAAQRVAEAHDPDSVAEVLVGQARGALEEKDFQKAEGLLLRAQRPGLALNYYKEAGLWSDALRICKDYVPSQLEALQEEYEREATKKGARGVEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSGLAEKCWMKAAELSIKFLPPQRNMEVVLAVGPQLIGIGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAKRVAKELDPRYEDYVDQHYKEFLKNQGKVDSLVGVDVIAALDLYVEQGQWDKCIETATKQNYKILHKYVALYATHLIREGSSAQALALYVQHGAPANPQNFNIYKRIFTDMVSSPGTNCAEAYHSWADLRDVLFNLCENLVKSSEANSPAHEEFKTMLLIAHYYATRSAAQSVKQLETVAARLSVSLLRHTQLLPVDKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAIEEGTLDGLDHSDFQDTDIPFEVPLPAKQHVPEAEREEVRDWVLTVSMDQRLEQVLPRDERGAYEASLVAASTGVRALPCLITGYPILRNKIEFKRPGKAANKDNWNKFLMAIKTSHSPVCQDVLKFISQWCGGLPSTSFSFQ | ||||||
Cross-link | 4 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1) | ||||
Sequence: K | ||||||
Modified residue | 672 | Omega-N-methylarginine | ||||
Sequence: R |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Interaction
Subunit
Interacts with IFT88 (By similarity).
Interacts with IFT57 (By similarity).
Interacts with RABL2/RABL2A; binds preferentially to GDP-bound RABL2 (By similarity).
Interacts with IFT57 (By similarity).
Interacts with RABL2/RABL2A; binds preferentially to GDP-bound RABL2 (By similarity).
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for repeat.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Repeat | 14-53 | WD 1 | ||||
Sequence: DGAAKVTCMAWSQNNAKFAVCTVDRVVLLYDEHGERRDKF | ||||||
Repeat | 64-103 | WD 2 | ||||
Sequence: RKSYMVKGMAFSPDSTKIAIGQTDNIIYVYKIGEDWGDKK | ||||||
Repeat | 110-148 | WD 3 | ||||
Sequence: IQTSAVTCLQWPAEYIIVFGLAEGKVRLANTKTNKSSTI | ||||||
Repeat | 150-191 | WD 4 | ||||
Sequence: GTESYVVSLTTNCSGKGILSGHADGTIVRYFFDDEGSGESQG | ||||||
Repeat | 195-233 | WD 5 | ||||
Sequence: NHPCPPYALAWATNSIVAAGCDRKIVAYGKEGHMLQTFD | ||||||
Repeat | 238-278 | WD 6 | ||||
Sequence: PQEREFTTAVSSPGGQSVVLGSYDRLRVFNWIPRRSIWEEA | ||||||
Repeat | 284-323 | WD 7 | ||||
Sequence: TNLYTITALAWKRDGSRLCVGTLCGGVEQFDCCLRRSIYK | ||||||
Repeat | 483-520 | WD 8 | ||||
Sequence: SHESRVDWLELNETGHKLLFRDRKLRLHLYDIESCSKT | ||||||
Repeat | 521-559 | WD 9 | ||||
Sequence: MILNFCSYMQWVPGSDVLVAQNRNSLCVWYNIEAPERVT | ||||||
Repeat | 593-624 | TPR 1 | ||||
Sequence: DEGLIEFGTAIDDGNYIRATAFLETLEMTPET | ||||||
Repeat | 692-725 | TPR 2 | ||||
Sequence: EKNYKLAEMIFLEQNAVEEAMGMYQELHRWDECI | ||||||
Repeat | 809-842 | TPR 3 | ||||
Sequence: GELYERAGDLFEKIHNPQKALECYRKGNAFMKAV | ||||||
Repeat | 854-887 | TPR 4 | ||||
Sequence: VKLEEAWGDHLVQQKQLDAAINHYIEARCSIKAI | ||||||
Repeat | 912-945 | TPR 5 | ||||
Sequence: SKYYPLVAQHYASLQEYEIAEELYTKGDRTKDAI | ||||||
Repeat | 947-970 | TPR 6 | ||||
Sequence: MYTQAGRWEQAHKLAMKCMRPEDV | ||||||
Repeat | 971-1004 | TPR 7 | ||||
Sequence: SVLYITQAQEMEKQGKYREAERLYVTVQEPDLAI | ||||||
Repeat | 1042-1075 | TPR 8 | ||||
Sequence: EGRLQEAEYHYLEAQEWKATVNMYRASGLWEEAY | ||||||
Repeat | 1142-1175 | TPR 9 | ||||
Sequence: PEVHLKYAMFLEDEGKFEEAEAEFIRAGKPKEAV | ||||||
Repeat | 1276-1309 | TPR 10 | ||||
Sequence: VEGFVEQARHWEQAGEYSRAVDCYLKVRDSGNSG | ||||||
Repeat | 1345-1378 | TPR 11 | ||||
Sequence: IGKHSAAAELYLNLDLVKEAIDAFIEGEEWNKAK | ||||||
Repeat | 1411-1445 | TPR 12 | ||||
Sequence: GVDVIAALDLYVEQGQWDKCIETATKQNYKILHKY | ||||||
Repeat | 1447-1477 | TPR 13 | ||||
Sequence: ALYATHLIREGSSAQALALYVQHGAPANPQN | ||||||
Repeat | 1574-1607 | TPR 14 | ||||
Sequence: DKAFYEAGIAAKAVGWDNMAFIFLNRFLDLTDAI |
Sequence similarities
Belongs to the IFT172 family.
Keywords
- Domain
Phylogenomic databases
Family and domain databases
Sequence & Isoforms
- Sequence statusComplete
This entry describes 3 isoforms produced by Alternative splicing.
Q9UG01-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- Length1,749
- Mass (Da)197,576
- Last updated2008-04-08 v2
- Checksum78AA83802D79E3CE
Q9UG01-2
- Name2
- Differences from canonical
- 1514-1525: CENLVKSSEANS → AVLSPSSSVKTW
- 1526-1749: Missing
Q9UG01-3
- Name3
Computationally mapped potential isoform sequences
There are 12 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A6Q8PFK2 | A0A6Q8PFK2_HUMAN | IFT172 | 536 | ||
A0A6Q8PFB6 | A0A6Q8PFB6_HUMAN | IFT172 | 191 | ||
A0A6Q8PFU9 | A0A6Q8PFU9_HUMAN | IFT172 | 98 | ||
A0A6Q8PG03 | A0A6Q8PG03_HUMAN | IFT172 | 715 | ||
A0A6Q8PGJ2 | A0A6Q8PGJ2_HUMAN | IFT172 | 1727 | ||
A0A6Q8PGK4 | A0A6Q8PGK4_HUMAN | IFT172 | 455 | ||
A0A6Q8PHF0 | A0A6Q8PHF0_HUMAN | IFT172 | 126 | ||
H0YAI8 | H0YAI8_HUMAN | IFT172 | 324 | ||
H7C252 | H7C252_HUMAN | IFT172 | 196 | ||
H7C161 | H7C161_HUMAN | IFT172 | 162 | ||
H7C186 | H7C186_HUMAN | IFT172 | 96 | ||
F5GZ56 | F5GZ56_HUMAN | IFT172 | 511 |
Features
Showing features for alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_054428 | 509-532 | in isoform 3 | |||
Sequence: LHLYDIESCSKTMILNFCSYMQWV → VRRATKALGIGWPTEGVRQAATRD | ||||||
Alternative sequence | VSP_054429 | 533-1749 | in isoform 3 | |||
Sequence: Missing | ||||||
Sequence conflict | 1475 | in Ref. 4; CAB55914 | ||||
Sequence: P → L | ||||||
Alternative sequence | VSP_032848 | 1514-1525 | in isoform 2 | |||
Sequence: CENLVKSSEANS → AVLSPSSSVKTW | ||||||
Alternative sequence | VSP_032849 | 1526-1749 | in isoform 2 | |||
Sequence: Missing |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AC074117 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471053 EMBL· GenBank· DDBJ | EAX00573.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC008024 EMBL· GenBank· DDBJ | AAH08024.1 EMBL· GenBank· DDBJ | mRNA | ||
BC047294 EMBL· GenBank· DDBJ | AAH47294.1 EMBL· GenBank· DDBJ | mRNA | ||
BC137126 EMBL· GenBank· DDBJ | AAI37127.1 EMBL· GenBank· DDBJ | mRNA | ||
BC142675 EMBL· GenBank· DDBJ | AAI42676.1 EMBL· GenBank· DDBJ | mRNA | ||
BC142729 EMBL· GenBank· DDBJ | AAI42730.1 EMBL· GenBank· DDBJ | mRNA | ||
AL110218 EMBL· GenBank· DDBJ | CAB53678.1 EMBL· GenBank· DDBJ | mRNA | ||
AL117421 EMBL· GenBank· DDBJ | CAB55914.2 EMBL· GenBank· DDBJ | mRNA | ||
AB033005 EMBL· GenBank· DDBJ | BAA86493.1 EMBL· GenBank· DDBJ | mRNA |