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Q9BVV6 (TALD3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein TALPID3
Gene names
Name:KIAA0586
Synonyms:TALPID3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1533 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for ciliogenesis and sonic hedgehog/SHH signaling By similarity.

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome Ref.6 Ref.9.

Sequence similarities

Belongs to the TALPID3 family.

Sequence caution

The sequence BAA25512.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BVV6-1)

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.
Isoform 2 (identifier: Q9BVV6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MKGSEVSLEKKKKIKM
     538-613: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q9BVV6-3)

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.
Isoform 4 (identifier: Q9BVV6-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 15331533Protein TALPID3
PRO_0000050766

Regions

Region467 – 55488Required for centrosomal localization By similarity
Coiled coil182 – 22342 Potential
Coiled coil467 – 50135 Potential
Compositional bias247 – 2504Poly-Gln
Compositional bias1180 – 11878Poly-Pro

Amino acid modifications

Cross-link380Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin) Ref.8

Natural variations

Alternative sequence1 – 7070Missing in isoform 4.
VSP_046387
Alternative sequence11M → MKGSEVSLEKKKKIKM in isoform 2.
VSP_040642
Alternative sequence11M → MFWCGTCFVTNNMKGSEVSL EKKKKIKM in isoform 3.
VSP_046005
Alternative sequence1221K → NVSLCLTGWSDHSGVITTHC SLYLLRLMRSSHLSLPSSWD YR in isoform 3 and isoform 4.
VSP_046006
Alternative sequence538 – 61376Missing in isoform 2.
VSP_040643
Alternative sequence1485 – 153248GKAVP…SGADT → LGVHVKKVSCIGKLGLWRFV IQIISSPRWESSATLRFTDA PCQDVSDAAVSEPRGLLSVS ESQHNAGGHGVFGGRYLLNG KRQPAQCLCHW in isoform 3.
VSP_046007
Natural variant8281L → P. Ref.1 Ref.2 Ref.3 Ref.5 Ref.7
Corresponds to variant rs1748986 [ dbSNP | Ensembl ].
VAR_069108

Experimental info

Sequence conflict10411P → A in BAA25512. Ref.2
Sequence conflict10411P → A in BAG64028. Ref.3
Sequence conflict10411P → A in EAW80740. Ref.5
Sequence conflict10411P → A in AAH66647. Ref.7
Isoform 3:
Sequence conflict15681L → P in BAG64028. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 5, 2011. Version 4.
Checksum: 031F5F28D63FD612

FASTA1,533169,307
        10         20         30         40         50         60 
MPVKRLREVV SQNHGDHLVL LKDELPCVPP ALSANKRLPV GTGTSLNGTS RGSSDLTSAR 

        70         80         90        100        110        120 
NCYQPLLENP MVSESDFSKD VAVQVLPLDK IEENNKQKAN DIFISQYTMG QKDALRTVLK 

       130        140        150        160        170        180 
QKAQSMPVFK EVKVHLLEDA GIEKDAVTQE TRISPSGIDS ATTVAAATAA AIATAAPLIK 

       190        200        210        220        230        240 
VQSDLEAKVN SVTELLSKLQ ETDKHLQRVT EQQTSIQRKQ EKLHCHDHEK QMNVFMEQHI 

       250        260        270        280        290        300 
RHLEKLQQQQ IDIQTHFISA ALKTSSFQPV SMPSSRAVEK YSVKPEHPNL GSCNPSLYNT 

       310        320        330        340        350        360 
FASKQAPLKE VEDTSFDKQK SPLETPAPRR FAPVPVSRDD ELSKRENLLE EKENMEVSCH 

       370        380        390        400        410        420 
RGNVRLLEQI LNNNDSLTRK SESSNTTSLT RSKIGWTPEK TNRFPSCEEL ETTKVTMQKS 

       430        440        450        460        470        480 
DDVLHDLGQK EKETNSMVQP KESLSMLKLP DLPQNSVKLQ TTNTTRSVLK DAEKILRGVQ 

       490        500        510        520        530        540 
NNKKVLEENL EAIIRAKDGA AMYSLINALS TNREMSEKIR IRKTVDEWIK TISAEIQDEL 

       550        560        570        580        590        600 
SRTDYEQKRF DQKNQRTKKG QNMTKDIRTN TQDKTVNKSV IPRKHSQKQI EEHFRNLPMR 

       610        620        630        640        650        660 
GMPASSLQKE RKEGLLKATT VIQDEDYMLQ VYGKPVYQGH RSTLKKGPYL RFNSPSPKSR 

       670        680        690        700        710        720 
PQRPKVIERV KGTKVKSIRT QTDFYATKPK KMDSKMKHSV PVLPHGDQQY LFSPSREMPT 

       730        740        750        760        770        780 
FSGTLEGHLI PMAILLGQTQ SNSDTMPPAG VIVSKPHPVT VTTSIPPSSR KVETGVKKPN 

       790        800        810        820        830        840 
IAIVEMKSEK KDPPQLTVQV LPSVDIDSIS NSSADVLSPL SSPKEASLPP VQTWIKTPEI 

       850        860        870        880        890        900 
MKVDEEEVKF PGTNFDEIID VIQEEEKCDE IPDSEPILEF NRSVKADSTK YNGPPFPPVA 

       910        920        930        940        950        960 
STFQPTADIL DKVIERKETL ENSLIQWVEQ EIMSRIISGL FPVQQQIAPS ISVSVSETSE 

       970        980        990       1000       1010       1020 
PLTSDIVEGT SSGALQLFVD AGVPVNSNVI KHFVNEALAE TIAVMLGDRE AKKQGPVATG 

      1030       1040       1050       1060       1070       1080 
VSGDASTNET YLPARVCTPL PTPQPTPPCS PSSPAKECVL VKTPDSSPCD SDHDMAFPVK 

      1090       1100       1110       1120       1130       1140 
EICAEKGDDM PAIMLVNTPT VTPTTTPPPA AAVFTPTLSD ISIDKLKVSS PELPKPWGDG 

      1150       1160       1170       1180       1190       1200 
DLPLEEENPN SPQEELHPRA IVMSVAKDEE PESMDFPAQP PPPEPVPFMP FPAGTKAPSP 

      1210       1220       1230       1240       1250       1260 
SQMPGSDSST LESTLSVTVT ETETLDKPIS EGEILFSCGQ KLAPKILEDI GLYLTNLNDS 

      1270       1280       1290       1300       1310       1320 
LSSTLHDAVE MEDDPPSEGQ VIRMSHKKFH ADAILSFAKQ NQESAVSQQA VYHSEDLENS 

      1330       1340       1350       1360       1370       1380 
VGELSEGQRP QLTAAAENIL MGHSLYMQPP VTNTQSLDQQ CDPKPLSRQF DTVSGSIYED 

      1390       1400       1410       1420       1430       1440 
SCASHGPMSL GELELEPNSK LVLPTTLLTA QENDVNLPVA AEDFSQYQLK QNQDVKQVEH 

      1450       1460       1470       1480       1490       1500 
KPSQSYLRVR NKSDIAPSQQ QVSPGDMDRT QIELNPYLTC VFSGGKAVPL SASQMPPAKM 

      1510       1520       1530 
SVMLPSVNLE DCSQSLSLST MQEDMESSGA DTF 

« Hide

Isoform 2 [UniParc].

Checksum: 63C425B27AC49E13
Show »

FASTA1,472161,895
Isoform 3 [UniParc].

Checksum: A1E4498F393D0822
Show »

FASTA1,644182,002
Isoform 4 [UniParc].

Checksum: 1AD93094E18A3F5D
Show »

FASTA1,504166,422

References

« Hide 'large scale' references
[1]"Cloning an isoform of KIAA0586 gene related to spermatogenesis."
Zhen Y., Huo R., Lu L., Xu M., Yin L.L., Xu Z.Y., Li J.M., Zhou Z.M., Sha J.H.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), VARIANT PRO-828.
[2]"Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:31-39(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT PRO-828.
Tissue: Brain.
[3]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT PRO-828.
Tissue: Testis.
[4]"The DNA sequence and analysis of human chromosome 14."
Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. expand/collapse author list , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT PRO-828.
[6]"Proteomic characterization of the human centrosome by protein correlation profiling."
Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
Tissue: Lymphoblast.
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT PRO-828.
Tissue: Placenta and Skin.
[8]"Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry."
Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.
Proteomics 7:868-874(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: UBIQUITINATION [LARGE SCALE ANALYSIS] AT LYS-380.
Tissue: Mammary cancer.
[9]"The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation."
Yin Y., Bangs F., Paton I.R., Prescott A., James J., Davey M.G., Whitley P., Genikhovich G., Technau U., Burt D.W., Tickle C.
Development 136:655-664(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
PIRT00344.
RefSeqNP_001231118.1. NM_001244189.1.
NP_001231119.1. NM_001244190.1.
NP_001231120.1. NM_001244191.1.
NP_001231121.1. NM_001244192.1.
NP_001231122.1. NM_001244193.1.
NP_055564.3. NM_014749.3.
UniGeneHs.232532.

3D structure databases

ProteinModelPortalQ9BVV6.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115130. 3 interactions.
STRING9606.ENSP00000261244.

PTM databases

PhosphoSiteQ9BVV6.

Polymorphism databases

DMDM327478601.

Proteomic databases

PaxDbQ9BVV6.
PRIDEQ9BVV6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261244; ENSP00000261244; ENSG00000100578. [Q9BVV6-2]
ENST00000354386; ENSP00000346359; ENSG00000100578. [Q9BVV6-3]
ENST00000423743; ENSP00000399427; ENSG00000100578. [Q9BVV6-4]
ENST00000556134; ENSP00000452351; ENSG00000100578. [Q9BVV6-1]
GeneID9786.
KEGGhsa:9786.
UCSCuc001xdu.4. human. [Q9BVV6-1]
uc001xdv.4. human. [Q9BVV6-2]

Organism-specific databases

CTD9786.
GeneCardsGC14P058894.
HGNCHGNC:19960. KIAA0586.
HPAHPA000846.
HPA050249.
MIM610178. gene.
neXtProtNX_Q9BVV6.
PharmGKBPA134992213.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG40443.
HOGENOMHOG000168599.
HOVERGENHBG052187.
InParanoidQ9BVV6.
OMAIQWVEQE.
OrthoDBEOG7SXW2T.
PhylomeDBQ9BVV6.
TreeFamTF332939.

Gene expression databases

ArrayExpressQ9BVV6.
BgeeQ9BVV6.
CleanExHS_KIAA0586.
GenevestigatorQ9BVV6.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi9786.
NextBio35535343.
SOURCESearch...

Entry information

Entry nameTALD3_HUMAN
AccessionPrimary (citable) accession number: Q9BVV6
Secondary accession number(s): B4DZB6 expand/collapse secondary AC list , E7EWM8, J3KQH9, O60328, Q6NYC6, Q6UV20
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2002
Last sequence update: April 5, 2011
Last modified: April 16, 2014
This is version 90 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM