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UniProtKB - Q9BVV6 (TALD3_HUMAN)

Entry version 144 (12 Aug 2020)
Sequence version 4 (05 Apr 2011)
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Protein

Protein TALPID3

Gene

KIAA0586

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 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

<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

Complete GO annotation on QuickGO ...

<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

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BVV6

<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%5Fand%5Ftaxonomy%5Fsection">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 TALPID3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:KIAA0586
Synonyms:TALPID3
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000100578.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:19960, KIAA0586

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610178, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BVV6

<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, 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

Joubert syndrome 23 (JBTS23)5 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.
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_076328403R → K in JBTS23; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs772739103Ensembl.1
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.
Related information in OMIM

Keywords - Diseasei

Ciliopathy, Disease mutation, Joubert syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		9786

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

More...GeneReviewsi		KIAA0586

MalaCards human disease database

More...MalaCardsi		KIAA0586
MIMi616490, phenotype
616546, phenotype

Open Targets

More...OpenTargetsi		ENSG00000100578

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

More...Orphaneti		475, Joubert syndrome
397715, Joubert syndrome with Jeune asphyxiating thoracic dystrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134992213

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BVV6, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KIAA0586

Domain mapping of disease mutations (DMDM)

More...DMDMi		327478601

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000507661 – 1533Protein TALPID3Add BLAST1533

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 residuei406PhosphoserineCombined sources1
Modified residuei1042PhosphothreonineBy similarity1
Modified residuei1046PhosphothreonineBy similarity1
Modified residuei1050PhosphoserineBy similarity1
Modified residuei1063PhosphothreonineBy similarity1
Modified residuei1066PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BVV6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BVV6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BVV6

PeptideAtlas

More...PeptideAtlasi		Q9BVV6

PRoteomics IDEntifications database

More...PRIDEi		Q9BVV6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		18876
79236 [Q9BVV6-1]
79237 [Q9BVV6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BVV6

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

More...PhosphoSitePlusi		Q9BVV6

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100578, Expressed in testis and 205 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BVV6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BVV6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100578, Low tissue specificity

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CCP110, CEP290, CEP97, KIF24.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115130, 16 interactors

Protein interaction database and analysis system

More...IntActi		Q9BVV6, 8 interactors

Molecular INTeraction database

More...MINTi		Q9BVV6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000346359

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BVV6, protein

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni467 – 554Required for centrosomal localizationBy similarityAdd BLAST88

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili182 – 223Sequence analysisAdd BLAST42
Coiled coili467 – 501Sequence analysisAdd BLAST35

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi247 – 250Poly-Gln4
Compositional biasi1180 – 1187Poly-Pro8

<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 TALPID3 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QUXJ, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012397

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BVV6

KEGG Orthology (KO)

More...KOi		K22865

Identification of Orthologs from Complete Genome Data

More...OMAi		HLPARVC

Database of Orthologous Groups

More...OrthoDBi		66287at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BVV6

TreeFam database of animal gene trees

More...TreeFami		TF332939

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029246, TALPID3

The PANTHER Classification System

More...PANTHERi		PTHR15721, PTHR15721, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15324, TALPID3, 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%5Flength">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 (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BVV6-1) [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
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
<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: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.

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

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

<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 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WYM5A0A087WYM5_HUMAN
Protein TALPID3
KIAA0586
1,463Annotation 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>
A0A494C0M8A0A494C0M8_HUMAN
Protein TALPID3
KIAA0586
1,521Annotation 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>
A0A494C075A0A494C075_HUMAN
Protein TALPID3
KIAA0586
958Annotation 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>
A0A494C0Z1A0A494C0Z1_HUMAN
Protein TALPID3
KIAA0586
570Annotation 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>
H0YJF0H0YJF0_HUMAN
Protein TALPID3
KIAA0586
208Annotation 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>
A0A494C058A0A494C058_HUMAN
Protein TALPID3
KIAA0586
854Annotation 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>
A0A494C1C3A0A494C1C3_HUMAN
Protein TALPID3
KIAA0586
764Annotation 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>
A0A494C133A0A494C133_HUMAN
Protein TALPID3
KIAA0586
254Annotation 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>
G3V2T5G3V2T5_HUMAN
Protein TALPID3
KIAA0586
234Annotation 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>
G3V4J0G3V4J0_HUMAN
Protein TALPID3
KIAA0586
132Annotation 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>
There are more potential isoformsShow all

<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 BAA25512 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

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 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 PublicationCorresponds to variant dbSNP:rs772739103Ensembl.1
Natural variantiVAR_074596566D → V in JBTS23. 1 Publication1
Natural variantiVAR_069108828L → P5 PublicationsCorresponds to variant dbSNP:rs1748986Ensembl.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_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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS45115.1 [Q9BVV6-2]
CCDS58320.1 [Q9BVV6-3]
CCDS58321.1 [Q9BVV6-1]
CCDS58322.1 [Q9BVV6-4]

Protein sequence database of the Protein Information Resource

More...PIRi		T00344

NCBI Reference Sequences

More...RefSeqi		NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000261244; ENSP00000261244; ENSG00000100578 [Q9BVV6-2]
ENST00000354386; ENSP00000346359; ENSG00000100578 [Q9BVV6-3]
ENST00000423743; ENSP00000399427; ENSG00000100578 [Q9BVV6-4]
ENST00000556134; ENSP00000452351; ENSG00000100578 [Q9BVV6-4]
ENST00000619416; ENSP00000478083; ENSG00000100578 [Q9BVV6-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9786

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9786

UCSC genome browser

More...UCSCi		uc001xdt.5, human [Q9BVV6-1]

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
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]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi115130, 16 interactors
IntActiQ9BVV6, 8 interactors
MINTiQ9BVV6
STRINGi9606.ENSP00000346359

PTM databases

iPTMnetiQ9BVV6
PhosphoSitePlusiQ9BVV6

Polymorphism and mutation databases

BioMutaiKIAA0586
DMDMi327478601

Proteomic databases

jPOSTiQ9BVV6
MassIVEiQ9BVV6
MaxQBiQ9BVV6
PeptideAtlasiQ9BVV6
PRIDEiQ9BVV6
ProteomicsDBi18876
79236 [Q9BVV6-1]
79237 [Q9BVV6-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		21, 13 antibodies

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

Comparative Toxicogenomics Database

More...CTDi		9786
DisGeNETi9786
EuPathDBiHostDB:ENSG00000100578.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		KIAA0586
GeneReviewsiKIAA0586
HGNCiHGNC:19960, KIAA0586
HPAiENSG00000100578, Low tissue specificity
MalaCardsiKIAA0586
MIMi610178, gene
616490, phenotype
616546, phenotype
neXtProtiNX_Q9BVV6
OpenTargetsiENSG00000100578
Orphaneti475, Joubert syndrome
397715, Joubert syndrome with Jeune asphyxiating thoracic dystrophy
PharmGKBiPA134992213

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QUXJ, Eukaryota
GeneTreeiENSGT00390000012397
InParanoidiQ9BVV6
KOiK22865
OMAiHLPARVC
OrthoDBi66287at2759
PhylomeDBiQ9BVV6
TreeFamiTF332939

Enzyme and pathway databases

PathwayCommonsiQ9BVV6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9786, 6 hits in 875 CRISPR screens

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

More...ChiTaRSi		KIAA0586, human

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

More...GenomeRNAii		9786
PharosiQ9BVV6, Tbio

Protein Ontology

More...PROi		PR:Q9BVV6
RNActiQ9BVV6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100578, Expressed in testis and 205 other tissues
ExpressionAtlasiQ9BVV6, baseline and differential
GenevisibleiQ9BVV6, HS

Family and domain databases

InterProiView protein in InterPro
IPR029246, TALPID3
PANTHERiPTHR15721, PTHR15721, 1 hit
PfamiView protein in Pfam
PF15324, TALPID3, 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 nameiTALD3_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: Q9BVV6
Secondary accession number(s): B4DZB6
, E7EWM8, J3KQH9, O60328, Q6NYC6, Q6UV20
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: April 5, 2011
Last modified: August 12, 2020
This is version 144 of the entry and version 4 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

Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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