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Q9P2L0 (WDR35_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 113. 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:
WD repeat-containing protein 35
Alternative name(s):
Intraflagellar transport protein 121 homolog
Gene names
Name:WDR35
Synonyms:IFT121, KIAA1336
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1181 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Required for ciliogenesis. May promote CASP3 activation and TNF-stimulated apoptosis. Ref.8 Ref.10

Subunit structure

Component of the IFT complex A (IFT-A). Interacts with IFT43. Ref.7 Ref.9

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity. Cytoplasmcytoskeletoncilium axoneme By similarity. Cytoplasmcytoskeletoncilium basal body By similarity.

Induction

By TNF. Ref.8

Involvement in disease

Cranioectodermal dysplasia 2 (CED2) [MIM:613610]: A disorder characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include short stature, dolichocephaly, craniosynostosis, narrow thorax with pectus excavatum, short limbs, brachydactyly, joint laxity, narrow palpebral fissures, telecanthus with hypertelorism, low-set simple ears, everted lower lip, and short neck. Teeth abnormalities include widely spaced, hypoplastic and fused teeth.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11

Short-rib thoracic dysplasia 7 with or without polydactyly (SRTD7) [MIM:614091]: A 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. SRTD7 hallmarks are acromesomelic hypomineralization, campomelia, polysyndactyly, laterality defects, and cystic kidneys.
Note: The disease is caused by mutations affecting the gene represented in this entry. WDR35 mutations cause short rib-polydactyly syndrome through impaired cilia formation. Primary fibroblasts from SRTD7 patients lacking WDR35 fail to produce cilia (Ref.10). Ref.10

Sequence similarities

Contains 5 WD repeats.

Sequence caution

The sequence BAA92574.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9P2L0-1)

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: Q9P2L0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     399-409: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11811181WD repeat-containing protein 35
PRO_0000051384

Regions

Repeat12 – 5140WD 1
Repeat69 – 10840WD 2
Repeat113 – 15240WD 3
Repeat154 – 19340WD 4
Repeat502 – 53938WD 5

Natural variations

Alternative sequence399 – 40911Missing in isoform 2.
VSP_009732
Natural variant181Q → R.
Corresponds to variant rs1060742 [ dbSNP | Ensembl ].
VAR_053428
Natural variant2611W → R in SRTD7. Ref.10
VAR_065955
Natural variant6261E → G in CED2. Ref.11
VAR_064581
Natural variant8751A → T in CED2. Ref.11
VAR_064582
Natural variant8781A → P.
Corresponds to variant rs2293669 [ dbSNP | Ensembl ].
VAR_062102
Natural variant8781A → T. Ref.6
Corresponds to variant rs2293669 [ dbSNP | Ensembl ].
VAR_062103
Natural variant9831E → G. Ref.3
Corresponds to variant rs1191778 [ dbSNP | Ensembl ].
VAR_053429

Experimental info

Sequence conflict10781S → G in AAH36659. Ref.6
Sequence conflict11711S → G in BAG53797. Ref.3

Sequences

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

Last modified March 29, 2004. Version 3.
Checksum: 1C0FFAAD0287F129

FASTA1,181133,547
        10         20         30         40         50         60 
MFFYLSKKIS IPNNVKLQCV SWNKEQGFIA CGGEDGLLKV LKLETQTDDA KLRGLAAPSN 

        70         80         90        100        110        120 
LSMNQTLEGH SGSVQVVTWN EQYQKLTTSD ENGLIIVWML YKGSWIEEMI NNRNKSVVRS 

       130        140        150        160        170        180 
MSWNADGQKI CIVYEDGAVI VGSVDGNRIW GKDLKGIQLS HVTWSADSKV LLFGMANGEI 

       190        200        210        220        230        240 
HIYDNQGNFM IKMKLSCLVN VTGAISIAGI HWYHGTEGYV EPDCPCLAVC FDNGRCQIMR 

       250        260        270        280        290        300 
HENDQNPVLI DTGMYVVGIQ WNHMGSVLAV AGFQKAAMQD KDVNIVQFYT PFGEHLGTLK 

       310        320        330        340        350        360 
VPGKEISALS WEGGGLKIAL AVDSFIYFAN IRPNYKWGYC SNTVVYAYTR PDRPEYCVVF 

       370        380        390        400        410        420 
WDTKNNEKYV KYVKGLISIT TCGDFCILAT KADENHPQEE NEMETFGATF VLVLCNSIGT 

       430        440        450        460        470        480 
PLDPKYIDIV PLFVAMTKTH VIAASKEAFY TWQYRVAKKL TALEINQITR SRKEGRERIY 

       490        500        510        520        530        540 
HVDDTPSGSM DGVLDYSKTI QGTRDPICAI TASDKILIVG RESGTIQRYS LPNVGLIQKY 

       550        560        570        580        590        600 
SLNCRAYQLS LNCNSSRLAI IDISGVLTFF DLDARVTDST GQQVVGELLK LERRDVWDMK 

       610        620        630        640        650        660 
WAKDNPDLFA MMEKTRMYVF RNLDPEEPIQ TSGYICNFED LEIKSVLLDE ILKDPEHPNK 

       670        680        690        700        710        720 
DYLINFEIRS LRDSRALIEK VGIKDASQFI EDNPHPRLWR LLAEAALQKL DLYTAEQAFV 

       730        740        750        760        770        780 
RCKDYQGIKF VKRLGKLLSE SMKQAEVVGY FGRFEEAERT YLEMDRRDLA IGLRLKLGDW 

       790        800        810        820        830        840 
FRVLQLLKTG SGDADDSLLE QANNAIGDYF ADRQKWLNAV QYYVQGRNQE RLAECYYMLE 

       850        860        870        880        890        900 
DYEGLENLAI SLPENHKLLP EIAQMFVRVG MCEQAVTAFL KCSQPKAAVD TCVHLNQWNK 

       910        920        930        940        950        960 
AVELAKNHSM KEIGSLLARY ASHLLEKNKT LDAIELYRKA NYFFDAAKLM FKIADEEAKK 

       970        980        990       1000       1010       1020 
GSKPLRVKKL YVLSALLIEQ YHEQMKNAQR GKVKGKSSEA TSALAGLLEE EVLSTTDRFT 

      1030       1040       1050       1060       1070       1080 
DNAWRGAEAY HFFILAQRQL YEGCVDTALK TALHLKDYED IIPPVEIYSL LALCACASRA 

      1090       1100       1110       1120       1130       1140 
FGTCSKAFIK LKSLETLSSE QKQQYEDLAL EIFTKHTSKD NRKPELDSLM EGGEGKLPTC 

      1150       1160       1170       1180 
VATGSPITEY QFWMCSVCKH GVLAQEISHY SFCPLCHSPV G 

« Hide

Isoform 2 [UniParc].

Checksum: 24A1BABB959DF302
Show »

FASTA1,170132,308

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[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 2), VARIANT GLY-983.
Tissue: Testis.
[4]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"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] (ISOFORM 2), VARIANT THR-878.
Tissue: Testis.
[7]"SnapShot: Intraflagellar transport."
Cole D.G., Snell W.J.
Cell 137:784-784(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH IFT43.
[8]"Naofen, a novel WD40-repeat protein, mediates spontaneous and tumor necrosis factor-induced apoptosis."
Feng G.G., Li C., Huang L., Tsunekawa K., Sato Y., Fujiwara Y., Komatsu T., Honda T., Fan J.H., Goto H., Koide T., Hasegawa T., Ishikawa N.
Biochem. Biophys. Res. Commun. 394:153-157(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INDUCTION.
[9]"TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia."
Mukhopadhyay S., Wen X., Chih B., Nelson C.D., Lane W.S., Scales S.J., Jackson P.K.
Genes Dev. 24:2180-2193(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION IN THE IFT-A COMPLEX.
[10]"Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis."
Mill P., Lockhart P.J., Fitzpatrick E., Mountford H.S., Hall E.A., Reijns M.A., Keighren M., Bahlo M., Bromhead C.J., Budd P., Aftimos S., Delatycki M.B., Savarirayan R., Jackson I.J., Amor D.J.
Am. J. Hum. Genet. 88:508-515(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, VARIANT SRTD7 ARG-261.
[11]"Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome."
Gilissen C., Arts H.H., Hoischen A., Spruijt L., Mans D.A., Arts P., van Lier B., Steehouwer M., van Reeuwijk J., Kant S.G., Roepman R., Knoers N.V., Veltman J.A., Brunner H.G.
Am. J. Hum. Genet. 87:418-423(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CED2 GLY-626 AND THR-875.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB037757 mRNA. Translation: BAA92574.2. Different initiation.
AK122917 mRNA. Translation: BAG53797.1.
AC079145 Genomic DNA. Translation: AAX88936.1.
CH471053 Genomic DNA. Translation: EAX00841.1.
BC036659 mRNA. Translation: AAH36659.1.
CCDSCCDS1695.1. [Q9P2L0-2]
CCDS33152.1. [Q9P2L0-1]
RefSeqNP_001006658.1. NM_001006657.1. [Q9P2L0-1]
NP_065830.2. NM_020779.3. [Q9P2L0-2]
UniGeneHs.205427.

3D structure databases

ProteinModelPortalQ9P2L0.
SMRQ9P2L0. Positions 20-186, 295-331.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121598. 3 interactions.
IntActQ9P2L0. 1 interaction.
STRING9606.ENSP00000314444.

PTM databases

PhosphoSiteQ9P2L0.

Polymorphism databases

DMDM48474987.

Proteomic databases

MaxQBQ9P2L0.
PaxDbQ9P2L0.
PRIDEQ9P2L0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000281405; ENSP00000281405; ENSG00000118965. [Q9P2L0-2]
ENST00000345530; ENSP00000314444; ENSG00000118965. [Q9P2L0-1]
GeneID57539.
KEGGhsa:57539.
UCSCuc002rdi.3. human. [Q9P2L0-1]
uc002rdj.3. human. [Q9P2L0-2]

Organism-specific databases

CTD57539.
GeneCardsGC02M020110.
GeneReviewsWDR35.
HGNCHGNC:29250. WDR35.
HPAHPA044147.
MIM613602. gene.
613610. phenotype.
614091. phenotype.
neXtProtNX_Q9P2L0.
Orphanet1515. Cranioectodermal dysplasia.
93271. Short rib-polydactyly syndrome, Verma-Naumoff type.
PharmGKBPA134928987.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG263340.
HOGENOMHOG000255527.
HOVERGENHBG079343.
InParanoidQ9P2L0.
OMADENHPQE.
OrthoDBEOG7QRQT6.
PhylomeDBQ9P2L0.
TreeFamTF314076.

Enzyme and pathway databases

SignaLinkQ9P2L0.

Gene expression databases

ArrayExpressQ9P2L0.
BgeeQ9P2L0.
CleanExHS_WDR35.
GenevestigatorQ9P2L0.

Family and domain databases

Gene3D2.130.10.10. 3 hits.
InterProIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
IPR017233. WD_repeat_p35.
[Graphical view]
PfamPF00400. WD40. 1 hit.
[Graphical view]
PIRSFPIRSF037536. WD_repeat_p35. 1 hit.
SMARTSM00320. WD40. 5 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
PROSITEPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi57539.
NextBio63968.
PROQ9P2L0.
SOURCESearch...

Entry information

Entry nameWDR35_HUMAN
AccessionPrimary (citable) accession number: Q9P2L0
Secondary accession number(s): B3KVI5, Q4ZG01, Q8NE11
Entry history
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: March 29, 2004
Last modified: July 9, 2014
This is version 113 of the entry and version 3 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 2

Human chromosome 2: entries, gene names and cross-references to MIM