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O43379 (WDR62_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 115. 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 62
Gene names
Name:WDR62
Synonyms:C19orf14
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1518 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for cerebral cortical development. Plays a role in neuronal proliferation and migration. Ref.10 Ref.11

Subcellular location

Nucleus. Cytoplasmcytoskeletonspindle pole. Note: Shows cell cycle-dependent localization. Accumulates to the spindle pole during mitosis. Ref.9 Ref.10 Ref.11 Ref.13

Tissue specificity

Present in fetal brain, enriched within the ventricular and subventricular zone (at protein level). In the embryonic brain it is expressed in mitotic neural precursor cells. Ref.9

Involvement in disease

Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (MCPH2) [MIM:604317]: A disease characterized by microcephaly, moderate to severe mental retardation, and various type of cortical malformations in most patients. Microcephaly is defined as a head circumference more than 3 standard deviations below the age-related mean. Cortical malformations include pachygyria with cortical thickening, microgyria, lissencephaly, hypoplasia of the corpus callosum, schizencephaly. All affected individuals have delayed psychomotor development. Some patients have seizures.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9 Ref.10 Ref.11 Ref.13

Sequence similarities

Contains 15 WD repeats.

Sequence caution

The sequence AAC27979.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence AAH17261.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43379-1)

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: O43379-2)

The sequence of this isoform differs from the canonical sequence as follows:
     458-483: TLLKVVYVENDIQHLQDMSHFPDRGS → LAPALQMCGRGHSRQPNTPSPGEIAS
     484-1518: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: O43379-3)

The sequence of this isoform differs from the canonical sequence as follows:
     412-414: VYP → ALS
     415-1518: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: O43379-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1073-1073: R → RELFPA

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.7
Chain2 – 15181517WD repeat-containing protein 62
PRO_0000281879

Regions

Repeat109 – 15042WD 1
Repeat153 – 19442WD 2
Repeat196 – 23439WD 3
Repeat291 – 33040WD 4
Repeat357 – 39640WD 5
Repeat402 – 45049WD 6
Repeat490 – 52940WD 7
Repeat532 – 57443WD 8
Repeat578 – 61841WD 9
Repeat626 – 66540WD 10
Repeat671 – 71343WD 11
Repeat714 – 75239WD 12
Repeat803 – 84644WD 13
Repeat1132 – 117342WD 14
Repeat1255 – 129339WD 15

Amino acid modifications

Modified residue21N-acetylalanine Ref.7 Ref.15
Modified residue461Phosphothreonine Ref.14
Modified residue491Phosphoserine Ref.6 Ref.12 Ref.14
Modified residue501Phosphothreonine Ref.6
Modified residue521Phosphoserine Ref.6
Modified residue5011Phosphoserine Ref.6 Ref.12
Modified residue10531Phosphothreonine Ref.6
Modified residue10931Phosphoserine Ref.12
Modified residue11011Phosphoserine Ref.12
Modified residue11231Phosphoserine Ref.6
Modified residue12281Phosphoserine Ref.6
Modified residue12481Phosphoserine Ref.8
Modified residue12491Phosphoserine Ref.8
Modified residue12681Phosphothreonine Ref.6

Natural variations

Alternative sequence412 – 4143VYP → ALS in isoform 3.
VSP_024077
Alternative sequence415 – 15181104Missing in isoform 3.
VSP_024078
Alternative sequence458 – 48326TLLKV…PDRGS → LAPALQMCGRGHSRQPNTPS PGEIAS in isoform 2.
VSP_024079
Alternative sequence484 – 15181035Missing in isoform 2.
VSP_024080
Alternative sequence10731R → RELFPA in isoform 4.
VSP_039906
Natural variant651V → M in MCPH2. Ref.9 Ref.10
VAR_065843
Natural variant2241W → S in MCPH2. Ref.11
VAR_063702
Natural variant2891K → R.
Corresponds to variant rs12327568 [ dbSNP | Ensembl ].
VAR_055014
Natural variant4381R → H in MCPH2; the mutant protein does not localize to the spindle pole during mitosis. Ref.9
VAR_065844
Natural variant5111D → N in MCPH2. Ref.9
VAR_065845
Natural variant5261E → K in MCPH2. Ref.11
VAR_063703
Natural variant8501L → S. Ref.3 Ref.4
Corresponds to variant rs2285745 [ dbSNP | Ensembl ].
VAR_031299
Natural variant13051Q → L. Ref.2 Ref.4
Corresponds to variant rs2074435 [ dbSNP | Ensembl ].
VAR_055015
Natural variant13111Q → E.
Corresponds to variant rs35811023 [ dbSNP | Ensembl ].
VAR_057629
Natural variant13701G → S. Ref.4
Corresponds to variant rs17851503 [ dbSNP | Ensembl ].
VAR_031300
Natural variant13851L → F. Ref.2 Ref.3 Ref.4
Corresponds to variant rs1008328 [ dbSNP | Ensembl ].
VAR_031301
Isoform 4:
Natural variant10781A → T in MCPH2, uncertain pathological significance.

Experimental info

Sequence conflict3701I → T in BAC03488. Ref.1
Sequence conflict11741Missing in CAH56390. Ref.2

Sequences

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

Last modified October 5, 2010. Version 4.
Checksum: 6E60A95B5774EF18

FASTA1,518165,954
        10         20         30         40         50         60 
MAAVGSGGYA RNDAGEKLPS VMAGVPARRG QSSPPPAPPI CLRRRTRLST ASEETVQNRV 

        70         80         90        100        110        120 
SLEKVLGITA QNSSGLTCDP GTGHVAYLAG CVVVILDPKE NKQQHIFNTA RKSLSALAFS 

       130        140        150        160        170        180 
PDGKYIVTGE NGHRPAVRIW DVEEKNQVAE MLGHKYGVAC VAFSPNMKHI VSMGYQHDMV 

       190        200        210        220        230        240 
LNVWDWKKDI VVASNKVSCR VIALSFSEDS SYFVTVGNRH VRFWFLEVST ETKVTSTVPL 

       250        260        270        280        290        300 
VGRSGILGEL HNNIFCGVAC GRGRMAGSTF CVSYSGLLCQ FNEKRVLEKW INLKVSLSSC 

       310        320        330        340        350        360 
LCVSQELIFC GCTDGIVRIF QAHSLHYLAN LPKPHYLGVD VAQGLEPSFL FHRKAEAVYP 

       370        380        390        400        410        420 
DTVALTFDPI HQWLSCVYKD HSIYIWDVKD INRVGKVWSE LFHSSYVWNV EVYPEFEDQR 

       430        440        450        460        470        480 
ACLPSGSFLT CSSDNTIRFW NLDSSPDSHW QKNIFSNTLL KVVYVENDIQ HLQDMSHFPD 

       490        500        510        520        530        540 
RGSENGTPMD VKAGVRVMQV SPDGQHLASG DRSGNLRIHE LHFMDELVKV EAHDAEVLCL 

       550        560        570        580        590        600 
EYSKPETGLT LLASASRDRL IHVLNVEKNY NLEQTLDDHS SSITAIKFAG NRDIQMISCG 

       610        620        630        640        650        660 
ADKSIYFRSA QQGSDGLHFV RTHHVAEKTT LYDMDIDITQ KYVAVACQDR NVRVYNTVNG 

       670        680        690        700        710        720 
KQKKCYKGSQ GDEGSLLKVH VDPSGTFLAT SCSDKSISVI DFYSGECIAK MFGHSEIITS 

       730        740        750        760        770        780 
MKFTYDCHHL ITVSGDSCVF IWHLGPEITN CMKQHLLEID HRQQQQHTND KKRSGHPRQD 

       790        800        810        820        830        840 
TYVSTPSEIH SLSPGEQTED DLEEECEPEE MLKTPSKDSL DPDPRCLLTN GKLPLWAKRL 

       850        860        870        880        890        900 
LGDDDVADGL AFHAKRSYQP HGRWAERAGQ EPLKTILDAQ DLDCYFTPMK PESLENSILD 

       910        920        930        940        950        960 
SLEPQSLASL LSESESPQEA GRGHPSFLPQ QKESSEASEL ILYSLEAEVT VTGTDSQYCR 

       970        980        990       1000       1010       1020 
KEVEAGPGDQ QGDSYLRVSS DSPKDQSPPE DSGESEADLE CSFAAIHSPA PPPDPAPRFA 

      1030       1040       1050       1060       1070       1080 
TSLPHFPGCA GPTEDELSLP EGPSVPSSSL PQTPEQEKFL RHHFETLTES PCRALGDVEA 

      1090       1100       1110       1120       1130       1140 
SEAEDHFFNP RLSISTQFLS SLQKASRFTH TFPPRATQCL VKSPEVKLMD RGGSQPRAGT 

      1150       1160       1170       1180       1190       1200 
GYASPDRTHV LAAGKAEETL EAWRPPPPCL TSLASCVPAS SVLPTDRNLP TPTSAPTPGL 

      1210       1220       1230       1240       1250       1260 
AQGVHAPSTC SYMEATASSR ARISRSISLG DSEGPIVATL AQPLRRPSSV GELASLGQEL 

      1270       1280       1290       1300       1310       1320 
QAITTATTPS LDSEGQEPAL RSWGNHEARA NLRLTLSSAC DGLLQPPVDT QPGVTVPAVS 

      1330       1340       1350       1360       1370       1380 
FPAPSPVEES ALRLHGSAFR PSLPAPESPG LPAHPSNPQL PEARPGIPGG TASLLEPTSG 

      1390       1400       1410       1420       1430       1440 
ALGLLQGSPA RWSEPWVPVE ALPPSPLELS RVGNILHRLQ TTFQEALDLY RVLVSSGQVD 

      1450       1460       1470       1480       1490       1500 
TGQQQARTEL VSTFLWIHSQ LEAECLVGTS VAPAQALPSP GPPSPPTLYP LASPDLQALL 

      1510 
EHYSELLVQA VRRKARGH 

« Hide

Isoform 2 [UniParc].

Checksum: 39ED04847DFE1BE2
Show »

FASTA48353,449
Isoform 3 [UniParc].

Checksum: 598CF0B355B2F3EE
Show »

FASTA41445,740
Isoform 4 [UniParc].

Checksum: D970D15105708A8E
Show »

FASTA1,523166,511

References

« Hide 'large scale' references
[1]"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).
Tissue: Glial tumor.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 865-1518 (ISOFORM 1), VARIANTS LEU-1305 AND PHE-1385.
Tissue: Testis.
[3]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS SER-850 AND PHE-1385.
[4]"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 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 735-1518 (ISOFORM 1), VARIANTS SER-850; LEU-1305; SER-1370 AND PHE-1385.
Tissue: Muscle.
[5]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49; THR-50; SER-52; SER-501; THR-1053; SER-1123; SER-1228 AND THR-1268, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[8]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1248 AND SER-1249, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[9]"WDR62 is associated with the spindle pole and is mutated in human microcephaly."
Nicholas A.K., Khurshid M., Desir J., Carvalho O.P., Cox J.J., Thornton G., Kausar R., Ansar M., Ahmad W., Verloes A., Passemard S., Misson J.P., Lindsay S., Gergely F., Dobyns W.B., Roberts E., Abramowicz M., Woods C.G.
Nat. Genet. 42:1010-1014(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANTS MCPH2 MET-65; HIS-438 AND ASN-511, VARIANT MCPH2 THR-1078 (ISOFORM 4), CHARACTERIZATION OF VARIANT MCPH2 HIS-438.
[10]"Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture."
Yu T.W., Mochida G.H., Tischfield D.J., Sgaier S.K., Flores-Sarnat L., Sergi C.M., Topcu M., McDonald M.T., Barry B.J., Felie J.M., Sunu C., Dobyns W.B., Folkerth R.D., Barkovich A.J., Walsh C.A.
Nat. Genet. 42:1015-1020(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT MCPH2 MET-65.
[11]"Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations."
Bilguvar K., Ozturk A.K., Louvi A., Kwan K.Y., Choi M., Tatli B., Yalnizoglu D., Tuysuz B., Caglayan A.O., Gokben S., Kaymakcalan H., Barak T., Bakircioglu M., Yasuno K., Ho W., Sanders S., Zhu Y., Yilmaz S. expand/collapse author list , Dincer A., Johnson M.H., Bronen R.A., Kocer N., Per H., Mane S., Pamir M.N., Yalcinkaya C., Kumandas S., Topcu M., Ozmen M., Sestan N., Lifton R.P., State M.W., Gunel M.
Nature 467:207-210(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANTS MCPH2 SER-224 AND LYS-526.
[12]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49; SER-501; SER-1093 AND SER-1101, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[13]"Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations."
Bhat V., Girimaji S.C., Mohan G., Arvinda H.R., Singhmar P., Duvvari M.R., Kumar A.
Clin. Genet. 80:532-540(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN MCPH2, SUBCELLULAR LOCATION.
[14]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-46 AND SER-49, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK090617 mRNA. Translation: BAC03488.1.
BX647726 mRNA. Translation: CAH56191.1.
AL133651 mRNA. Translation: CAH56390.1.
AD000813 Genomic DNA. No translation available.
AC004144 Genomic DNA. Translation: AAC27979.1. Sequence problems.
BC017261 mRNA. Translation: AAH17261.1. Different initiation.
BC058939 mRNA. No translation available.
CCDSCCDS33001.1. [O43379-1]
CCDS46059.1. [O43379-4]
PIRT01437.
RefSeqNP_001077430.1. NM_001083961.1. [O43379-4]
NP_775907.4. NM_173636.4. [O43379-1]
UniGeneHs.116244.

3D structure databases

ProteinModelPortalO43379.
SMRO43379. Positions 201-227, 364-755.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129863. 12 interactions.
IntActO43379. 9 interactions.
MINTMINT-1376343.
STRING9606.ENSP00000384792.

PTM databases

PhosphoSiteO43379.

Proteomic databases

MaxQBO43379.
PaxDbO43379.
PRIDEO43379.

Protocols and materials databases

DNASU284403.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000270301; ENSP00000270301; ENSG00000075702. [O43379-1]
ENST00000388999; ENSP00000373651; ENSG00000075702. [O43379-2]
ENST00000401500; ENSP00000384792; ENSG00000075702. [O43379-4]
ENST00000587391; ENSP00000465525; ENSG00000075702. [O43379-2]
GeneID284403.
KEGGhsa:284403.
UCSCuc002odb.2. human. [O43379-3]
uc002odc.2. human. [O43379-1]
uc002odd.2. human. [O43379-4]

Organism-specific databases

CTD284403.
GeneCardsGC19P036545.
GeneReviewsWDR62.
HGNCHGNC:24502. WDR62.
HPACAB046468.
HPA043255.
HPA043639.
MIM604317. phenotype.
613583. gene.
neXtProtNX_O43379.
Orphanet2512. Autosomal recessive primary microcephaly.
PharmGKBPA134963627.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000010231.
HOVERGENHBG108669.
OMALASTFLW.
OrthoDBEOG74N5FW.
PhylomeDBO43379.
TreeFamTF323254.

Enzyme and pathway databases

SignaLinkO43379.

Gene expression databases

ArrayExpressO43379.
BgeeO43379.
CleanExHS_WDR62.
GenevestigatorO43379.

Family and domain databases

Gene3D2.130.10.10. 3 hits.
InterProIPR011047. Quinonprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF00400. WD40. 7 hits.
[Graphical view]
SMARTSM00320. WD40. 12 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 2 hits.
SSF50998. SSF50998. 3 hits.
PROSITEPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 3 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSWDR62. human.
GeneWikiWDR62.
GenomeRNAi284403.
NextBio94836.
PROO43379.
SOURCESearch...

Entry information

Entry nameWDR62_HUMAN
AccessionPrimary (citable) accession number: O43379
Secondary accession number(s): Q63HP9 expand/collapse secondary AC list , Q659D7, Q8NBF7, Q96AD9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: October 5, 2010
Last modified: July 9, 2014
This is version 115 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 19

Human chromosome 19: entries, gene names and cross-references to MIM