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Entry version 139 (13 Feb 2019)
Sequence version 2 (16 Aug 2005)
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Protein

Protein inturned

Gene

INTU

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

Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essential for the normal orientation of elongating ciliary microtubules. Plays a key role in definition of cell polarity via its role in ciliogenesis but not via conversion extension. Has an indirect effect on hedgehog signaling (By similarity). Proposed to function as core component of the CPLANE (ciliogenesis and planar polarity effectors) complex involved in the recruitment of peripheral IFT-A proteins to basal bodies (PubMed:27158779).By similarity1 Publication

<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
Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5610787 Hedgehog 'off' state

<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:
Protein inturned
Alternative name(s):
Inturned planar cell polarity effector homolog
PDZ domain-containing protein 6
<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:INTU
Synonyms:KIAA1284, PDZD6, PDZK6
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000164066.12

Human Gene Nomenclature Database

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HGNCi
HGNC:29239 INTU

Online Mendelian Inheritance in Man (OMIM)

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MIMi
610621 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9ULD6

<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; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

<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 20 with polydactyly (SRTD20)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.
See also OMIM:617925
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_080711355 – 942Missing in SRTD20; loss of subcellular location to cilium basal body, when tested in a heterologous system. 1 PublicationAdd BLAST588
Natural variantiVAR_076783500E → A in SRTD20; unknown pathological significance; impairs recruitment of IFT43 to the basal body, but no effect on subcellular location, when tested in a heterologous system. 1 PublicationCorresponds to variant dbSNP:rs1360128571Ensembl.1
Orofaciodigital syndrome 17 (OFD17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD17 inheritance is autosomal recessive.
See also OMIM:617926
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic (SRTD7/20)
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. SRTD7/20 can be caused by co-occurrence of WDR35 variant p.Trp311Leu and INTU p.Gln276Ter. One such patient has been reported.1 Publication
Disease descriptionA digenic form of short-rib thoracic dysplasia caused by double heterozygosity for a mutation in the WDR35 gene and a mutation in the INTU gene. Short-rib thoracic dysplasia is part of a group of 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 also OMIM:614091
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080710276 – 942Missing in SRTD7/20; in an SRTD7/20 patient who also carries variant WDR35 L-311. 1 PublicationAdd BLAST667

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
27152

MalaCards human disease database

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MalaCardsi
INTU
MIMi614091 phenotype
617925 phenotype
617926 phenotype

Open Targets

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OpenTargetsi
ENSG00000164066

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA162392193

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
INTU

Domain mapping of disease mutations (DMDM)

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DMDMi
73621379

<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_00000582961 – 942Protein inturnedAdd BLAST942

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 residuei670PhosphoserineBy similarity1
Modified residuei674PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9ULD6

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

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PaxDbi
Q9ULD6

PeptideAtlas

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PeptideAtlasi
Q9ULD6

PRoteomics IDEntifications database

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PRIDEi
Q9ULD6

ProteomicsDB human proteome resource

More...
ProteomicsDBi
84999
85000 [Q9ULD6-2]
85001 [Q9ULD6-3]
85002 [Q9ULD6-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9ULD6

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

More...
PhosphoSitePlusi
Q9ULD6

<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
ENSG00000164066 Expressed in 170 organ(s), highest expression level in right uterine tube

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9ULD6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9ULD6 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA036714
HPA036715

<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 CPLANE1. Interacts with FUZ and WDPCP; FUZ, INTU and WDPCP probably form the core CPLANE (ciliogenesis and planar polarity effectors) complex (By similarity). Interacts with NPHP4 and DAAM1; INTU is mediating the interaction between NPHP4 and DAAM1 (PubMed:26644512).By similarity1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
118034, 48 interactors

Protein interaction database and analysis system

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IntActi
Q9ULD6, 24 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000334003

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9ULD6

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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 <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini185 – 263PDZPROSITE-ProRule annotationAdd BLAST79

<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 inturned family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IHJH Eukaryota
ENOG410XR9C LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000001301

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000169273

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG079907

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9ULD6

KEGG Orthology (KO)

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KOi
K22862

Identification of Orthologs from Complete Genome Data

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OMAi
YIRFSLP

Database of Orthologous Groups

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OrthoDBi
898612at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9ULD6

TreeFam database of animal gene trees

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TreeFami
TF323932

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR039151 INTU
IPR001478 PDZ
IPR036034 PDZ_sf

The PANTHER Classification System

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PANTHERi
PTHR21082 PTHR21082, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00228 PDZ, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50156 SSF50156, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50106 PDZ, 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>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)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 4 <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 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9ULD6-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MASVASCDSR PSSDELPGDP SSQEEDEDYD FEDRVSDSGS YSSASSDYDD
60 70 80 90 100
LEPEWLDSVQ KNGELFYLEL SEDEEESLLP ETPTVNHVRF SENEIIIEDD
110 120 130 140 150
YKERKKYEPK LKQFTKILRR KRLLPKRCNK KNSNDNGPVS ILKHQSNQKT
160 170 180 190 200
GVIVQQRYKD VNVYVNPKKL TVIKAKEQLK LLEVLVGIIH QTKWSWRRTG
210 220 230 240 250
KQGDGERLVV HGLLPGGSAM KSGQVLIGDV LVAVNDVDVT TENIERVLSC
260 270 280 290 300
IPGPMQVKLT FENAYDVKRE TSHPRQKKTQ SNTSDLVKLL WGEEVEGIQQ
310 320 330 340 350
SGLNTPHIIM YLTLQLDSET SKEEQEILYH YPMSEASQKL KSVRGIFLTL
360 370 380 390 400
CDMLENVTGT QVTSSSLLLN GKQIHVAYWK ESDKLLLIGL PAEEVPLPRL
410 420 430 440 450
RNMIENVIQT LKFMYGSLDS AFCQIENVPR LDHFFNLFFQ RALQPAKLHS
460 470 480 490 500
SASPSAQQYD ASSAVLLDNL PGVRWLTLPL EIKMELDMAL SDLEAADFAE
510 520 530 540 550
LSEDYYDMRR LYTILGSSLF YKGYLICSHL PKDDLIDIAV YCRHYCLLPL
560 570 580 590 600
AAKQRIGQLI IWREVFPQHH LRPLADSSTE VFPEPEGRYF LLVVGLKHYM
610 620 630 640 650
LCVLLEAGGC ASKAIGSPGP DCVYVDQVKT TLHQLDGVDS RIDERLASSP
660 670 680 690 700
VPCLSCADWF LTGSREKTDS LTTSPILSRL QGTSKVATSP TCRRTLFGDY
710 720 730 740 750
SLKTRKPSPS CSSGGSDNGC EGGEDDGFSP HTTPDAVRKQ RESQGSDGLE
760 770 780 790 800
ESGTLLKVTK KKSTLPNPFH LGNLKKDLPE KELEIYNTVK LTSGPENTLF
810 820 830 840 850
HYVALETVQG IFITPTLEEV AQLSGSIHPQ LIKNFHQCCL SIRAVFQQTL
860 870 880 890 900
VEEKKKGLNS GDHSDSAKSV SSLNPVKEHG VLFECSPGNW TDQKKAPPVM
910 920 930 940
AYWVVGRLFL HPKPQELYVC FHDSVTEIAI EIAFKLFFGL TL
Length:942
Mass (Da):105,648
Last modified:August 16, 2005 - 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:iF21BF6BC0EF7A8F8
GO
Isoform 2 (identifier: Q9ULD6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     395-408: VPLPRLRNMIENVI → IELPSSAHTHGERN
     409-942: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:408
Mass (Da):46,188
Checksum:i6F91408DA6823013
GO
Isoform 3 (identifier: Q9ULD6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     421-435: AFCQIENVPRLDHFF → IMKEFSVIVSSGKII
     436-942: Missing.

Note: No experimental confirmation available.
Show »
Length:435
Mass (Da):49,309
Checksum:i8E60B2641716C7D6
GO
Isoform 4 (identifier: Q9ULD6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MASVASCDSR...SYSSASSDYD → MFQVGRSSIPKPAPRSLEDLDSVQRVLLHS

Show »
Length:923
Mass (Da):103,737
Checksum:iE02A25EB04349A75
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QTA5J3QTA5_HUMAN
Protein inturned
INTU
201Annotation 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>
H0YA54H0YA54_HUMAN
Protein inturned
INTU
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>
H0YAI1H0YAI1_HUMAN
Protein inturned
INTU
93Annotation 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>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA86598 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080710276 – 942Missing in SRTD7/20; in an SRTD7/20 patient who also carries variant WDR35 L-311. 1 PublicationAdd BLAST667
Natural variantiVAR_080711355 – 942Missing in SRTD20; loss of subcellular location to cilium basal body, when tested in a heterologous system. 1 PublicationAdd BLAST588
Natural variantiVAR_076782452A → T1 PublicationCorresponds to variant dbSNP:rs150681845EnsemblClinVar.1
Natural variantiVAR_076783500E → A in SRTD20; unknown pathological significance; impairs recruitment of IFT43 to the basal body, but no effect on subcellular location, when tested in a heterologous system. 1 PublicationCorresponds to variant dbSNP:rs1360128571Ensembl.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_0425851 – 49MASVA…SSDYD → MFQVGRSSIPKPAPRSLEDL DSVQRVLLHS in isoform 4. CuratedAdd BLAST49
Alternative sequenceiVSP_015073395 – 408VPLPR…IENVI → IELPSSAHTHGERN in isoform 2. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_015074409 – 942Missing in isoform 2. 1 PublicationAdd BLAST534
Alternative sequenceiVSP_042586421 – 435AFCQI…LDHFF → IMKEFSVIVSSGKII in isoform 3. CuratedAdd BLAST15
Alternative sequenceiVSP_042587436 – 942Missing in isoform 3. CuratedAdd BLAST507

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
AB033110 mRNA Translation: BAA86598.1 Different initiation.
AK291481 mRNA Translation: BAF84170.1
AC093591 Genomic DNA No translation available.
AC097462 Genomic DNA Translation: AAY41002.1
AC110797 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX05202.1
BC051698 mRNA Translation: AAH51698.1
BC130611 mRNA Translation: AAI30612.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34061.1 [Q9ULD6-1]

NCBI Reference Sequences

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RefSeqi
NP_056508.2, NM_015693.3 [Q9ULD6-1]
XP_011530148.1, XM_011531846.1 [Q9ULD6-4]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.391481

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000335251; ENSP00000334003; ENSG00000164066 [Q9ULD6-1]
ENST00000503626; ENSP00000426287; ENSG00000164066 [Q9ULD6-2]
ENST00000503952; ENSP00000421995; ENSG00000164066 [Q9ULD6-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
27152

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:27152

UCSC genome browser

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UCSCi
uc003ifk.3 human [Q9ULD6-1]

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
AB033110 mRNA Translation: BAA86598.1 Different initiation.
AK291481 mRNA Translation: BAF84170.1
AC093591 Genomic DNA No translation available.
AC097462 Genomic DNA Translation: AAY41002.1
AC110797 Genomic DNA No translation available.
CH471056 Genomic DNA Translation: EAX05202.1
BC051698 mRNA Translation: AAH51698.1
BC130611 mRNA Translation: AAI30612.1
CCDSiCCDS34061.1 [Q9ULD6-1]
RefSeqiNP_056508.2, NM_015693.3 [Q9ULD6-1]
XP_011530148.1, XM_011531846.1 [Q9ULD6-4]
UniGeneiHs.391481

3D structure databases

ProteinModelPortaliQ9ULD6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118034, 48 interactors
IntActiQ9ULD6, 24 interactors
STRINGi9606.ENSP00000334003

PTM databases

iPTMnetiQ9ULD6
PhosphoSitePlusiQ9ULD6

Polymorphism and mutation databases

BioMutaiINTU
DMDMi73621379

Proteomic databases

EPDiQ9ULD6
PaxDbiQ9ULD6
PeptideAtlasiQ9ULD6
PRIDEiQ9ULD6
ProteomicsDBi84999
85000 [Q9ULD6-2]
85001 [Q9ULD6-3]
85002 [Q9ULD6-4]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
27152
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000335251; ENSP00000334003; ENSG00000164066 [Q9ULD6-1]
ENST00000503626; ENSP00000426287; ENSG00000164066 [Q9ULD6-2]
ENST00000503952; ENSP00000421995; ENSG00000164066 [Q9ULD6-3]
GeneIDi27152
KEGGihsa:27152
UCSCiuc003ifk.3 human [Q9ULD6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
27152
DisGeNETi27152
EuPathDBiHostDB:ENSG00000164066.12

GeneCards: human genes, protein and diseases

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GeneCardsi
INTU
HGNCiHGNC:29239 INTU
HPAiHPA036714
HPA036715
MalaCardsiINTU
MIMi610621 gene
614091 phenotype
617925 phenotype
617926 phenotype
neXtProtiNX_Q9ULD6
OpenTargetsiENSG00000164066
PharmGKBiPA162392193

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHJH Eukaryota
ENOG410XR9C LUCA
GeneTreeiENSGT00390000001301
HOGENOMiHOG000169273
HOVERGENiHBG079907
InParanoidiQ9ULD6
KOiK22862
OMAiYIRFSLP
OrthoDBi898612at2759
PhylomeDBiQ9ULD6
TreeFamiTF323932

Enzyme and pathway databases

ReactomeiR-HSA-5610787 Hedgehog 'off' state

Miscellaneous databases

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

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ChiTaRSi
INTU human

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

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GenomeRNAii
27152

Protein Ontology

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PROi
PR:Q9ULD6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164066 Expressed in 170 organ(s), highest expression level in right uterine tube
ExpressionAtlasiQ9ULD6 baseline and differential
GenevisibleiQ9ULD6 HS

Family and domain databases

InterProiView protein in InterPro
IPR039151 INTU
IPR001478 PDZ
IPR036034 PDZ_sf
PANTHERiPTHR21082 PTHR21082, 1 hit
SMARTiView protein in SMART
SM00228 PDZ, 1 hit
SUPFAMiSSF50156 SSF50156, 1 hit
PROSITEiView protein in PROSITE
PS50106 PDZ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<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 nameiINTU_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: Q9ULD6
Secondary accession number(s): A1L4N5
, D6RAE6, D6RBT4, Q4W5I8, Q86V55
<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: August 16, 2005
Last sequence update: August 16, 2005
Last modified: February 13, 2019
This is version 139 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 4
    Human chromosome 4: 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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