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Protein

Protein TALPID3

Gene

KIAA0586

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

Functioni

Required for ciliogenesis and sonic hedgehog/SHH signaling. Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1. May play a role in early ciliogenesis in the disappearance of centriolar satellites that preceeds ciliary vesicle formation (PubMed:24421332). Involved in regulation of cell intracellular organization. Involved in regulation of cell polarity (By similarity). Required for asymmetrical localization of CEP120 to daughter centrioles (By similarity).By similarity1 Publication

GO - Biological processi

  • cilium assembly Source: MGI
  • cilium morphogenesis Source: UniProtKB
  • regulation of establishment of protein localization Source: MGI
  • smoothened signaling pathway Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100578-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein TALPID3
Gene namesi
Name:KIAA0586
Synonyms:TALPID3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:19960. KIAA0586.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: GO_Central
  • centrosome Source: UniProtKB
  • ciliary basal body Source: MGI
  • photoreceptor inner segment Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Joubert syndrome 23 (JBTS23)4 Publications
The disease is caused by mutations affecting the gene represented in this entry. Some patients with biallelic KIAA0586 mutations manifest a disease phenotype with features of Joubert syndrome and additional findings of a small thorax and respiratory problems consistent with Jeune syndrome (Joubert-Jeune ciliopathy).1 Publication
Disease descriptionA mild form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly.
See also OMIM:616490
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076328403R → K in JBTS23; unknown pathological significance. 1 Publication1
Natural variantiVAR_074596566D → V in JBTS23. 1 Publication1
Short-rib thoracic dysplasia 14 with polydactyly (SRTD14)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:616546

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNETi9786.
MIMi616490. phenotype.
616546. phenotype.
OpenTargetsiENSG00000100578.
PharmGKBiPA134992213.

Polymorphism and mutation databases

BioMutaiKIAA0586.
DMDMi327478601.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507661 – 1533Protein TALPID3Add BLAST1533

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei406PhosphoserineCombined sources1
Modified residuei1042PhosphothreonineBy similarity1
Modified residuei1046PhosphothreonineBy similarity1
Modified residuei1050PhosphoserineBy similarity1
Modified residuei1063PhosphothreonineBy similarity1
Modified residuei1066PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9BVV6.
PeptideAtlasiQ9BVV6.
PRIDEiQ9BVV6.

PTM databases

iPTMnetiQ9BVV6.
PhosphoSitePlusiQ9BVV6.

Expressioni

Tissue specificityi

Ubiquitously expressed (PubMed:26386044). Expressed in photoreceptor cells (at protein level) (PubMed:26386247).2 Publications

Developmental stagei

Expressed as early as 6 weeks of gestation (Carnegie stage 16). Ubiquitously expressed during fetal development and postnatally in all adult tissues tested.1 Publication

Gene expression databases

BgeeiENSG00000100578.
CleanExiHS_KIAA0586.
ExpressionAtlasiQ9BVV6. baseline and differential.
GenevisibleiQ9BVV6. HS.

Organism-specific databases

HPAiHPA000846.
HPA050249.

Interactioni

Subunit structurei

Interacts with CCP110, CEP290, CEP97, KIF24.1 Publication

Protein-protein interaction databases

BioGridi115130. 11 interactors.
IntActiQ9BVV6. 4 interactors.

Structurei

3D structure databases

ProteinModelPortaliQ9BVV6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni467 – 554Required for centrosomal localizationBy similarityAdd BLAST88

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili182 – 223Sequence analysisAdd BLAST42
Coiled coili467 – 501Sequence analysisAdd BLAST35

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi247 – 250Poly-Gln4
Compositional biasi1180 – 1187Poly-Pro8

Sequence similaritiesi

Belongs to the TALPID3 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

GeneTreeiENSGT00390000012397.
HOGENOMiHOG000168599.
HOVERGENiHBG052187.
InParanoidiQ9BVV6.
OMAiIQWVEQE.
OrthoDBiEOG091G04HJ.
PhylomeDBiQ9BVV6.
TreeFamiTF332939.

Family and domain databases

InterProiIPR029246. TALPID3.
[Graphical view]
PANTHERiPTHR15721. PTHR15721. 1 hit.
PfamiPF15324. TALPID3. 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: Q9BVV6-1) [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
MPVKRLREVV SQNHGDHLVL LKDELPCVPP ALSANKRLPV GTGTSLNGTS
60 70 80 90 100
RGSSDLTSAR NCYQPLLENP MVSESDFSKD VAVQVLPLDK IEENNKQKAN
110 120 130 140 150
DIFISQYTMG QKDALRTVLK QKAQSMPVFK EVKVHLLEDA GIEKDAVTQE
160 170 180 190 200
TRISPSGIDS ATTVAAATAA AIATAAPLIK VQSDLEAKVN SVTELLSKLQ
210 220 230 240 250
ETDKHLQRVT EQQTSIQRKQ EKLHCHDHEK QMNVFMEQHI RHLEKLQQQQ
260 270 280 290 300
IDIQTHFISA ALKTSSFQPV SMPSSRAVEK YSVKPEHPNL GSCNPSLYNT
310 320 330 340 350
FASKQAPLKE VEDTSFDKQK SPLETPAPRR FAPVPVSRDD ELSKRENLLE
360 370 380 390 400
EKENMEVSCH RGNVRLLEQI LNNNDSLTRK SESSNTTSLT RSKIGWTPEK
410 420 430 440 450
TNRFPSCEEL ETTKVTMQKS DDVLHDLGQK EKETNSMVQP KESLSMLKLP
460 470 480 490 500
DLPQNSVKLQ TTNTTRSVLK DAEKILRGVQ NNKKVLEENL EAIIRAKDGA
510 520 530 540 550
AMYSLINALS TNREMSEKIR IRKTVDEWIK TISAEIQDEL SRTDYEQKRF
560 570 580 590 600
DQKNQRTKKG QNMTKDIRTN TQDKTVNKSV IPRKHSQKQI EEHFRNLPMR
610 620 630 640 650
GMPASSLQKE RKEGLLKATT VIQDEDYMLQ VYGKPVYQGH RSTLKKGPYL
660 670 680 690 700
RFNSPSPKSR PQRPKVIERV KGTKVKSIRT QTDFYATKPK KMDSKMKHSV
710 720 730 740 750
PVLPHGDQQY LFSPSREMPT FSGTLEGHLI PMAILLGQTQ SNSDTMPPAG
760 770 780 790 800
VIVSKPHPVT VTTSIPPSSR KVETGVKKPN IAIVEMKSEK KDPPQLTVQV
810 820 830 840 850
LPSVDIDSIS NSSADVLSPL SSPKEASLPP VQTWIKTPEI MKVDEEEVKF
860 870 880 890 900
PGTNFDEIID VIQEEEKCDE IPDSEPILEF NRSVKADSTK YNGPPFPPVA
910 920 930 940 950
STFQPTADIL DKVIERKETL ENSLIQWVEQ EIMSRIISGL FPVQQQIAPS
960 970 980 990 1000
ISVSVSETSE PLTSDIVEGT SSGALQLFVD AGVPVNSNVI KHFVNEALAE
1010 1020 1030 1040 1050
TIAVMLGDRE AKKQGPVATG VSGDASTNET YLPARVCTPL PTPQPTPPCS
1060 1070 1080 1090 1100
PSSPAKECVL VKTPDSSPCD SDHDMAFPVK EICAEKGDDM PAIMLVNTPT
1110 1120 1130 1140 1150
VTPTTTPPPA AAVFTPTLSD ISIDKLKVSS PELPKPWGDG DLPLEEENPN
1160 1170 1180 1190 1200
SPQEELHPRA IVMSVAKDEE PESMDFPAQP PPPEPVPFMP FPAGTKAPSP
1210 1220 1230 1240 1250
SQMPGSDSST LESTLSVTVT ETETLDKPIS EGEILFSCGQ KLAPKILEDI
1260 1270 1280 1290 1300
GLYLTNLNDS LSSTLHDAVE MEDDPPSEGQ VIRMSHKKFH ADAILSFAKQ
1310 1320 1330 1340 1350
NQESAVSQQA VYHSEDLENS VGELSEGQRP QLTAAAENIL MGHSLYMQPP
1360 1370 1380 1390 1400
VTNTQSLDQQ CDPKPLSRQF DTVSGSIYED SCASHGPMSL GELELEPNSK
1410 1420 1430 1440 1450
LVLPTTLLTA QENDVNLPVA AEDFSQYQLK QNQDVKQVEH KPSQSYLRVR
1460 1470 1480 1490 1500
NKSDIAPSQQ QVSPGDMDRT QIELNPYLTC VFSGGKAVPL SASQMPPAKM
1510 1520 1530
SVMLPSVNLE DCSQSLSLST MQEDMESSGA DTF
Length:1,533
Mass (Da):169,307
Last modified:April 5, 2011 - v4
Checksum:i031F5F28D63FD612
GO
Isoform 2 (identifier: Q9BVV6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKGSEVSLEKKKKIKM
     538-613: Missing.

Note: No experimental confirmation available.
Show »
Length:1,472
Mass (Da):161,895
Checksum:i63C425B27AC49E13
GO
Isoform 3 (identifier: Q9BVV6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MFWCGTCFVTNNMKGSEVSLEKKKKIKM
     122-122: K → NVSLCLTGWSDHSGVITTHCSLYLLRLMRSSHLSLPSSWDYR
     1485-1532: GKAVPLSASQ...EDMESSGADT → LGVHVKKVSC...RQPAQCLCHW

Note: No experimental confirmation available.Curated
Show »
Length:1,644
Mass (Da):182,002
Checksum:iA1E4498F393D0822
GO
Isoform 4 (identifier: Q9BVV6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-70: Missing.
     122-122: K → NVSLCLTGWSDHSGVITTHCSLYLLRLMRSSHLSLPSSWDYR

Show »
Length:1,504
Mass (Da):166,422
Checksum:i1AD93094E18A3F5D
GO

Sequence cautioni

The sequence BAA25512 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1041P → A in BAA25512 (PubMed:9628581).Curated1
Sequence conflicti1041P → A in BAG64028 (PubMed:14702039).Curated1
Sequence conflicti1041P → A in EAW80740 (Ref. 5) Curated1
Sequence conflicti1041P → A in AAH66647 (PubMed:15489334).Curated1
Isoform 3 (identifier: Q9BVV6-3)
Sequence conflicti1568L → P in BAG64028 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076328403R → K in JBTS23; unknown pathological significance. 1 Publication1
Natural variantiVAR_074596566D → V in JBTS23. 1 Publication1
Natural variantiVAR_069108828L → P.5 PublicationsCorresponds to variant rs1748986dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0463871 – 70Missing in isoform 4. 1 PublicationAdd BLAST70
Alternative sequenceiVSP_0406421M → MKGSEVSLEKKKKIKM in isoform 2. 1 Publication1
Alternative sequenceiVSP_0460051M → MFWCGTCFVTNNMKGSEVSL EKKKKIKM in isoform 3. 1 Publication1
Alternative sequenceiVSP_046006122K → NVSLCLTGWSDHSGVITTHC SLYLLRLMRSSHLSLPSSWD YR in isoform 3 and isoform 4. 2 Publications1
Alternative sequenceiVSP_040643538 – 613Missing in isoform 2. 1 PublicationAdd BLAST76
Alternative sequenceiVSP_0460071485 – 1532GKAVP…SGADT → LGVHVKKVSCIGKLGLWRFV IQIISSPRWESSATLRFTDA PCQDVSDAAVSEPRGLLSVS ESQHNAGGHGVFGGRYLLNG KRQPAQCLCHW in isoform 3. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY359881 mRNA. Translation: AAQ63404.1.
AB011158 mRNA. Translation: BAA25512.2. Different initiation.
AK302836 mRNA. Translation: BAG64028.1.
AL135752 Genomic DNA. No translation available.
AL139021 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80740.1.
BC000900 mRNA. Translation: AAH00900.1.
BC066647 mRNA. Translation: AAH66647.2.
CCDSiCCDS45115.1. [Q9BVV6-2]
CCDS58320.1. [Q9BVV6-3]
CCDS58321.1. [Q9BVV6-1]
CCDS58322.1. [Q9BVV6-4]
PIRiT00344.
RefSeqiNP_001231118.1. NM_001244189.1. [Q9BVV6-3]
NP_001231119.1. NM_001244190.1. [Q9BVV6-1]
NP_001231120.1. NM_001244191.1.
NP_001231121.1. NM_001244192.1. [Q9BVV6-4]
NP_001231122.1. NM_001244193.1.
NP_055564.3. NM_014749.4. [Q9BVV6-2]
UniGeneiHs.232532.

Genome annotation databases

EnsembliENST00000261244; ENSP00000261244; ENSG00000100578. [Q9BVV6-2]
ENST00000354386; ENSP00000346359; ENSG00000100578. [Q9BVV6-3]
ENST00000423743; ENSP00000399427; ENSG00000100578. [Q9BVV6-4]
ENST00000556134; ENSP00000452351; ENSG00000100578. [Q9BVV6-4]
ENST00000619416; ENSP00000478083; ENSG00000100578. [Q9BVV6-1]
GeneIDi9786.
KEGGihsa:9786.
UCSCiuc001xdt.5. human. [Q9BVV6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY359881 mRNA. Translation: AAQ63404.1.
AB011158 mRNA. Translation: BAA25512.2. Different initiation.
AK302836 mRNA. Translation: BAG64028.1.
AL135752 Genomic DNA. No translation available.
AL139021 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80740.1.
BC000900 mRNA. Translation: AAH00900.1.
BC066647 mRNA. Translation: AAH66647.2.
CCDSiCCDS45115.1. [Q9BVV6-2]
CCDS58320.1. [Q9BVV6-3]
CCDS58321.1. [Q9BVV6-1]
CCDS58322.1. [Q9BVV6-4]
PIRiT00344.
RefSeqiNP_001231118.1. NM_001244189.1. [Q9BVV6-3]
NP_001231119.1. NM_001244190.1. [Q9BVV6-1]
NP_001231120.1. NM_001244191.1.
NP_001231121.1. NM_001244192.1. [Q9BVV6-4]
NP_001231122.1. NM_001244193.1.
NP_055564.3. NM_014749.4. [Q9BVV6-2]
UniGeneiHs.232532.

3D structure databases

ProteinModelPortaliQ9BVV6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115130. 11 interactors.
IntActiQ9BVV6. 4 interactors.

PTM databases

iPTMnetiQ9BVV6.
PhosphoSitePlusiQ9BVV6.

Polymorphism and mutation databases

BioMutaiKIAA0586.
DMDMi327478601.

Proteomic databases

MaxQBiQ9BVV6.
PeptideAtlasiQ9BVV6.
PRIDEiQ9BVV6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261244; ENSP00000261244; ENSG00000100578. [Q9BVV6-2]
ENST00000354386; ENSP00000346359; ENSG00000100578. [Q9BVV6-3]
ENST00000423743; ENSP00000399427; ENSG00000100578. [Q9BVV6-4]
ENST00000556134; ENSP00000452351; ENSG00000100578. [Q9BVV6-4]
ENST00000619416; ENSP00000478083; ENSG00000100578. [Q9BVV6-1]
GeneIDi9786.
KEGGihsa:9786.
UCSCiuc001xdt.5. human. [Q9BVV6-1]

Organism-specific databases

CTDi9786.
DisGeNETi9786.
GeneCardsiKIAA0586.
HGNCiHGNC:19960. KIAA0586.
HPAiHPA000846.
HPA050249.
MIMi610178. gene.
616490. phenotype.
616546. phenotype.
neXtProtiNX_Q9BVV6.
OpenTargetsiENSG00000100578.
PharmGKBiPA134992213.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000012397.
HOGENOMiHOG000168599.
HOVERGENiHBG052187.
InParanoidiQ9BVV6.
OMAiIQWVEQE.
OrthoDBiEOG091G04HJ.
PhylomeDBiQ9BVV6.
TreeFamiTF332939.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100578-MONOMER.

Miscellaneous databases

GenomeRNAii9786.
PROiQ9BVV6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100578.
CleanExiHS_KIAA0586.
ExpressionAtlasiQ9BVV6. baseline and differential.
GenevisibleiQ9BVV6. HS.

Family and domain databases

InterProiIPR029246. TALPID3.
[Graphical view]
PANTHERiPTHR15721. PTHR15721. 1 hit.
PfamiPF15324. TALPID3. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTALD3_HUMAN
AccessioniPrimary (citable) accession number: Q9BVV6
Secondary accession number(s): B4DZB6
, E7EWM8, J3KQH9, O60328, Q6NYC6, Q6UV20
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: April 5, 2011
Last modified: November 30, 2016
This is version 115 of the entry and version 4 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 14
    Human chromosome 14: 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.