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Protein

Protein inturned

Gene

INTU

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164066-MONOMER.
ReactomeiR-HSA-5610787. Hedgehog 'off' state.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein inturned
Alternative name(s):
Inturned planar cell polarity effector homolog
PDZ domain-containing protein 6
Gene namesi
Name:INTU
Synonyms:KIAA1284, PDZD6, PDZK6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:29239. INTU.

Subcellular locationi

GO - Cellular componenti

  • cell surface Source: UniProtKB-SubCell
  • ciliary basal body Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • motile cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

DisGeNETi27152.
OpenTargetsiENSG00000164066.
PharmGKBiPA162392193.

Polymorphism and mutation databases

BioMutaiINTU.
DMDMi73621379.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000582961 – 942Protein inturnedAdd BLAST942

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei674PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9ULD6.
PaxDbiQ9ULD6.
PeptideAtlasiQ9ULD6.
PRIDEiQ9ULD6.

PTM databases

iPTMnetiQ9ULD6.
PhosphoSitePlusiQ9ULD6.

Expressioni

Gene expression databases

BgeeiENSG00000164066.
CleanExiHS_INTU.
ExpressionAtlasiQ9ULD6. baseline and differential.
GenevisibleiQ9ULD6. HS.

Organism-specific databases

HPAiHPA036714.
HPA036715.

Interactioni

Subunit structurei

Interacts with C5orf42/JBTS17. 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

Binary interactionsi

WithEntry#Exp.IntActNotes
DAAM1Q9Y4D13EBI-11762696,EBI-2817289
NPHP4O751612EBI-11762696,EBI-4281852

Protein-protein interaction databases

BioGridi118034. 19 interactors.
IntActiQ9ULD6. 24 interactors.
STRINGi9606.ENSP00000334003.

Structurei

3D structure databases

ProteinModelPortaliQ9ULD6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini185 – 263PDZPROSITE-ProRule annotationAdd BLAST79

Sequence similaritiesi

Belongs to the inturned family.Curated
Contains 1 PDZ (DHR) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IHJH. Eukaryota.
ENOG410XR9C. LUCA.
GeneTreeiENSGT00390000001301.
HOGENOMiHOG000169273.
HOVERGENiHBG079907.
InParanoidiQ9ULD6.
OMAiKFMYGSL.
OrthoDBiEOG091G01NC.
PhylomeDBiQ9ULD6.
TreeFamiTF323932.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
[Graphical view]
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS50106. PDZ. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

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
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

Sequence cautioni

The sequence BAA86598 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076782452A → T in a patient with nephronophtisis; unknown pathological significance. 1 Publication1
Natural variantiVAR_076783500E → A in a patient with short-rib polydactyly syndrome, impairs recruitment of IFT43 to the basal body; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:
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.

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]

Keywords - Coding sequence diversityi

Alternative splicing

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. 19 interactors.
IntActiQ9ULD6. 24 interactors.
STRINGi9606.ENSP00000334003.

PTM databases

iPTMnetiQ9ULD6.
PhosphoSitePlusiQ9ULD6.

Polymorphism and mutation databases

BioMutaiINTU.
DMDMi73621379.

Proteomic databases

EPDiQ9ULD6.
PaxDbiQ9ULD6.
PeptideAtlasiQ9ULD6.
PRIDEiQ9ULD6.

Protocols and materials databases

DNASUi27152.
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

CTDi27152.
DisGeNETi27152.
GeneCardsiINTU.
HGNCiHGNC:29239. INTU.
HPAiHPA036714.
HPA036715.
MIMi610621. gene.
neXtProtiNX_Q9ULD6.
OpenTargetsiENSG00000164066.
PharmGKBiPA162392193.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IHJH. Eukaryota.
ENOG410XR9C. LUCA.
GeneTreeiENSGT00390000001301.
HOGENOMiHOG000169273.
HOVERGENiHBG079907.
InParanoidiQ9ULD6.
OMAiKFMYGSL.
OrthoDBiEOG091G01NC.
PhylomeDBiQ9ULD6.
TreeFamiTF323932.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164066-MONOMER.
ReactomeiR-HSA-5610787. Hedgehog 'off' state.

Miscellaneous databases

GenomeRNAii27152.
PROiQ9ULD6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164066.
CleanExiHS_INTU.
ExpressionAtlasiQ9ULD6. baseline and differential.
GenevisibleiQ9ULD6. HS.

Family and domain databases

Gene3Di2.30.42.10. 1 hit.
InterProiIPR001478. PDZ.
[Graphical view]
SMARTiSM00228. PDZ. 1 hit.
[Graphical view]
SUPFAMiSSF50156. SSF50156. 1 hit.
PROSITEiPS50106. PDZ. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiINTU_HUMAN
AccessioniPrimary (citable) accession number: Q9ULD6
Secondary accession number(s): A1L4N5
, D6RAE6, D6RBT4, Q4W5I8, Q86V55
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2005
Last sequence update: August 16, 2005
Last modified: November 30, 2016
This is version 122 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.