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Entry version 143 (31 Jul 2019)
Sequence version 2 (08 Apr 2008)
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Protein

Intraflagellar transport protein 172 homolog

Gene

IFT172

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9UG01

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Intraflagellar transport protein 172 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:IFT172
Synonyms:KIAA1179
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:30391 IFT172

Online Mendelian Inheritance in Man (OMIM)

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MIMi
607386 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9UG01

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070956296R → W in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs145541911EnsemblClinVar.1
Natural variantiVAR_070957411I → N in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs587777085EnsemblClinVar.1
Natural variantiVAR_070958464 – 465Missing in SRTD10. 1 Publication2
Natural variantiVAR_0709591536L → P in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs587777080EnsemblClinVar.1
Natural variantiVAR_0709601544R → C in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs587777079EnsemblClinVar.1
Natural variantiVAR_0709611727C → R in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs149614625EnsemblClinVar.1
Retinitis pigmentosa 71 (RP71)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073800257L → P in RP71; represents a null allele. 1 PublicationCorresponds to variant dbSNP:rs786205857EnsemblClinVar.1
Natural variantiVAR_0738011567H → Q in RP71; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs786205855EnsemblClinVar.1
Natural variantiVAR_0738021605D → E in RP71; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs786205856EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...
DisGeNETi
26160

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
IFT172

MalaCards human disease database

More...
MalaCardsi
IFT172
MIMi615630 phenotype
616394 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138002

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
110 Bardet-Biedl syndrome
474 Jeune syndrome
791 Retinitis pigmentosa
140969 Saldino-Mainzer syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671666

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
IFT172

Domain mapping of disease mutations (DMDM)

More...
DMDMi
182662418

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003289411 – 1749Intraflagellar transport protein 172 homologAdd BLAST1749

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1N-acetylmethionine1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki4Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Modified residuei672Omega-N-methylarginineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q9UG01

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9UG01

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q9UG01

PeptideAtlas

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PeptideAtlasi
Q9UG01

PRoteomics IDEntifications database

More...
PRIDEi
Q9UG01

ProteomicsDB human proteome resource

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ProteomicsDBi
726
84196 [Q9UG01-1]
84197 [Q9UG01-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UG01

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9UG01

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000138002 Expressed in 176 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UG01 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UG01 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA044893

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with IFT88.

Interacts with RABL2/RABL2A; binds preferentially to GDP-bound RABL2.

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
117589, 33 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9UG01

Protein interaction database and analysis system

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IntActi
Q9UG01, 27 interactors

Molecular INTeraction database

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MINTi
Q9UG01

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000260570

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati14 – 53WD 1Add BLAST40
Repeati64 – 103WD 2Add BLAST40
Repeati110 – 148WD 3Add BLAST39
Repeati150 – 191WD 4Add BLAST42
Repeati195 – 233WD 5Add BLAST39
Repeati238 – 278WD 6Add BLAST41
Repeati284 – 323WD 7Add BLAST40
Repeati483 – 520WD 8Add BLAST38
Repeati521 – 559WD 9Add BLAST39
Repeati593 – 624TPR 1Add BLAST32
Repeati692 – 725TPR 2Add BLAST34
Repeati809 – 842TPR 3Add BLAST34
Repeati854 – 887TPR 4Add BLAST34
Repeati912 – 945TPR 5Add BLAST34
Repeati947 – 970TPR 6Add BLAST24
Repeati971 – 1004TPR 7Add BLAST34
Repeati1042 – 1075TPR 8Add BLAST34
Repeati1142 – 1175TPR 9Add BLAST34
Repeati1276 – 1309TPR 10Add BLAST34
Repeati1345 – 1378TPR 11Add BLAST34
Repeati1411 – 1445TPR 12Add BLAST35
Repeati1447 – 1477TPR 13Add BLAST31
Repeati1574 – 1607TPR 14Add BLAST34

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the IFT172 family.Curated

Keywords - Domaini

Repeat, TPR repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3616 Eukaryota
ENOG410XR2C LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000153417

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000286003

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UG01

KEGG Orthology (KO)

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KOi
K19676

Identification of Orthologs from Complete Genome Data

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OMAi
RLSEVAW

Database of Orthologous Groups

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OrthoDBi
30851at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UG01

TreeFam database of animal gene trees

More...
TreeFami
TF312901

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.10, 1 hit
2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016024 ARM-type_fold
IPR011990 TPR-like_helical_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00400 WD40, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00320 WD40, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371 SSF48371, 1 hit
SSF48452 SSF48452, 1 hit
SSF50978 SSF50978, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UG01-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR
60 70 80 90 100
DKFSTKPADM KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG
110 120 130 140 150
DKKVICNKFI QTSAVTCLQW PAEYIIVFGL AEGKVRLANT KTNKSSTIYG
160 170 180 190 200
TESYVVSLTT NCSGKGILSG HADGTIVRYF FDDEGSGESQ GKLVNHPCPP
210 220 230 240 250
YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE REFTTAVSSP
260 270 280 290 300
GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR
310 320 330 340 350
LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK
360 370 380 390 400
SHYGYEVEEV KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK
410 420 430 440 450
YFFENENVCM IFNAGELTLV EYGNNDTLGS VRTEFMNPHL ISVRINERCQ
460 470 480 490 500
RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG TVSHESRVDW LELNETGHKL
510 520 530 540 550
LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA QNRNSLCVWY
560 570 580 590 600
NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG
610 620 630 640 650
TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA
660 670 680 690 700
LGQVAKARFL HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM
710 720 730 740 750
IFLEQNAVEE AMGMYQELHR WDECIAVAEA KGHPALEKLR RSYYQWLMDT
760 770 780 790 800
QQEERAGELQ ESQGDGLAAI SLYLKAGLPA KAARLVLTRE ELLANTELVE
810 820 830 840 850
HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK AVELARLAFP
860 870 880 890 900
VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI
910 920 930 940 950
YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ
960 970 980 990 1000
AGRWEQAHKL AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP
1010 1020 1030 1040 1050
DLAITMYKKH KLYDDMIRLV GKHHPDLLSD THLHLGKELE AEGRLQEAEY
1060 1070 1080 1090 1100
HYLEAQEWKA TVNMYRASGL WEEAYRVART QGGANAHKHV AYLWAKSLGG
1110 1120 1130 1140 1150
EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK TPEVHLKYAM
1160 1170 1180 1190 1200
FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA
1210 1220 1230 1240 1250
EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK
1260 1270 1280 1290 1300
DYVPSQLEAL QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL
1310 1320 1330 1340 1350
KVRDSGNSGL AEKCWMKAAE LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA
1360 1370 1380 1390 1400
AAELYLNLDL VKEAIDAFIE GEEWNKAKRV AKELDPRYED YVDQHYKEFL
1410 1420 1430 1440 1450
KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK ILHKYVALYA
1460 1470 1480 1490 1500
THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY
1510 1520 1530 1540 1550
HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV
1560 1570 1580 1590 1600
KQLETVAARL SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF
1610 1620 1630 1640 1650
LDLTDAIEEG TLDGLDHSDF QDTDIPFEVP LPAKQHVPEA EREEVRDWVL
1660 1670 1680 1690 1700
TVSMDQRLEQ VLPRDERGAY EASLVAASTG VRALPCLITG YPILRNKIEF
1710 1720 1730 1740
KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG LPSTSFSFQ
Length:1,749
Mass (Da):197,576
Last modified:April 8, 2008 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i78AA83802D79E3CE
GO
Isoform 2 (identifier: Q9UG01-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1514-1525: CENLVKSSEANS → AVLSPSSSVKTW
     1526-1749: Missing.

Note: No experimental confirmation available.
Show »
Length:1,525
Mass (Da):172,438
Checksum:i0F5C5D89B95F6B0F
GO
Isoform 3 (identifier: Q9UG01-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     509-532: LHLYDIESCSKTMILNFCSYMQWV → VRRATKALGIGWPTEGVRQAATRD
     533-1749: Missing.

Note: No experimental confirmation available.
Show »
Length:532
Mass (Da):59,659
Checksum:i73321ACEDA74FF52
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5GZ56F5GZ56_HUMAN
Intraflagellar transport protein 17...
IFT172
511Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YAI8H0YAI8_HUMAN
Intraflagellar transport protein 17...
IFT172
324Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C252H7C252_HUMAN
Intraflagellar transport protein 17...
IFT172
196Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C186H7C186_HUMAN
Intraflagellar transport protein 17...
IFT172
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C161H7C161_HUMAN
Intraflagellar transport protein 17...
IFT172
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1475P → L in CAB55914 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073800257L → P in RP71; represents a null allele. 1 PublicationCorresponds to variant dbSNP:rs786205857EnsemblClinVar.1
Natural variantiVAR_070956296R → W in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs145541911EnsemblClinVar.1
Natural variantiVAR_070957411I → N in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs587777085EnsemblClinVar.1
Natural variantiVAR_070958464 – 465Missing in SRTD10. 1 Publication2
Natural variantiVAR_042581953R → H. Corresponds to variant dbSNP:rs704793EnsemblClinVar.1
Natural variantiVAR_0709591536L → P in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs587777080EnsemblClinVar.1
Natural variantiVAR_0709601544R → C in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs587777079EnsemblClinVar.1
Natural variantiVAR_0738011567H → Q in RP71; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs786205855EnsemblClinVar.1
Natural variantiVAR_0738021605D → E in RP71; hypomorphic mutation. 1 PublicationCorresponds to variant dbSNP:rs786205856EnsemblClinVar.1
Natural variantiVAR_0709611727C → R in SRTD10. 1 PublicationCorresponds to variant dbSNP:rs149614625EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_054428509 – 532LHLYD…YMQWV → VRRATKALGIGWPTEGVRQA ATRD in isoform 3. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_054429533 – 1749Missing in isoform 3. 1 PublicationAdd BLAST1217
Alternative sequenceiVSP_0328481514 – 1525CENLV…SEANS → AVLSPSSSVKTW in isoform 2. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_0328491526 – 1749Missing in isoform 2. 1 PublicationAdd BLAST224

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AC074117 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00573.1
BC008024 mRNA Translation: AAH08024.1
BC047294 mRNA Translation: AAH47294.1
BC137126 mRNA Translation: AAI37127.1
BC142675 mRNA Translation: AAI42676.1
BC142729 mRNA Translation: AAI42730.1
AL110218 mRNA Translation: CAB53678.1
AL117421 mRNA Translation: CAB55914.2
AB033005 mRNA Translation: BAA86493.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS1755.1 [Q9UG01-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T14758
T17224

NCBI Reference Sequences

More...
RefSeqi
NP_056477.1, NM_015662.2 [Q9UG01-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000260570; ENSP00000260570; ENSG00000138002 [Q9UG01-1]
ENST00000359466; ENSP00000352443; ENSG00000138002 [Q9UG01-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
26160

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:26160

UCSC genome browser

More...
UCSCi
uc002rku.4 human [Q9UG01-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC074117 Genomic DNA No translation available.
CH471053 Genomic DNA Translation: EAX00573.1
BC008024 mRNA Translation: AAH08024.1
BC047294 mRNA Translation: AAH47294.1
BC137126 mRNA Translation: AAI37127.1
BC142675 mRNA Translation: AAI42676.1
BC142729 mRNA Translation: AAI42730.1
AL110218 mRNA Translation: CAB53678.1
AL117421 mRNA Translation: CAB55914.2
AB033005 mRNA Translation: BAA86493.1
CCDSiCCDS1755.1 [Q9UG01-1]
PIRiT14758
T17224
RefSeqiNP_056477.1, NM_015662.2 [Q9UG01-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi117589, 33 interactors
CORUMiQ9UG01
IntActiQ9UG01, 27 interactors
MINTiQ9UG01
STRINGi9606.ENSP00000260570

PTM databases

iPTMnetiQ9UG01
PhosphoSitePlusiQ9UG01

Polymorphism and mutation databases

BioMutaiIFT172
DMDMi182662418

Proteomic databases

EPDiQ9UG01
jPOSTiQ9UG01
PaxDbiQ9UG01
PeptideAtlasiQ9UG01
PRIDEiQ9UG01
ProteomicsDBi726
84196 [Q9UG01-1]
84197 [Q9UG01-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260570; ENSP00000260570; ENSG00000138002 [Q9UG01-1]
ENST00000359466; ENSP00000352443; ENSG00000138002 [Q9UG01-3]
GeneIDi26160
KEGGihsa:26160
UCSCiuc002rku.4 human [Q9UG01-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
26160
DisGeNETi26160

GeneCards: human genes, protein and diseases

More...
GeneCardsi
IFT172
GeneReviewsiIFT172
HGNCiHGNC:30391 IFT172
HPAiHPA044893
MalaCardsiIFT172
MIMi607386 gene
615630 phenotype
616394 phenotype
neXtProtiNX_Q9UG01
OpenTargetsiENSG00000138002
Orphaneti110 Bardet-Biedl syndrome
474 Jeune syndrome
791 Retinitis pigmentosa
140969 Saldino-Mainzer syndrome
PharmGKBiPA142671666

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3616 Eukaryota
ENOG410XR2C LUCA
GeneTreeiENSGT00940000153417
HOGENOMiHOG000286003
InParanoidiQ9UG01
KOiK19676
OMAiRLSEVAW
OrthoDBi30851at2759
PhylomeDBiQ9UG01
TreeFamiTF312901

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state
R-HSA-5620924 Intraflagellar transport
SIGNORiQ9UG01

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
IFT172 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
26160

Protein Ontology

More...
PROi
PR:Q9UG01

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138002 Expressed in 176 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9UG01 baseline and differential
GenevisibleiQ9UG01 HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR016024 ARM-type_fold
IPR011990 TPR-like_helical_dom_sf
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 7 hits
SUPFAMiSSF48371 SSF48371, 1 hit
SSF48452 SSF48452, 1 hit
SSF50978 SSF50978, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiIF172_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UG01
Secondary accession number(s): A5PKZ0
, B2RNU5, Q86X44, Q96HW4, Q9UFJ9, Q9ULP1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 8, 2008
Last sequence update: April 8, 2008
Last modified: July 31, 2019
This is version 143 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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