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Protein

WD repeat-containing protein 17

Gene

WDR17

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

SignaLinkiQ8IZU2.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 17
Gene namesi
Name:WDR17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:16661. WDR17.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA38181.

Polymorphism and mutation databases

BioMutaiWDR17.
DMDMi215273912.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 13221322WD repeat-containing protein 17PRO_0000051364Add
BLAST

Proteomic databases

EPDiQ8IZU2.
MaxQBiQ8IZU2.
PaxDbiQ8IZU2.
PRIDEiQ8IZU2.

PTM databases

PhosphoSiteiQ8IZU2.

Expressioni

Gene expression databases

BgeeiQ8IZU2.
CleanExiHS_WDR17.
ExpressionAtlasiQ8IZU2. baseline and differential.
GenevisibleiQ8IZU2. HS.

Organism-specific databases

HPAiHPA042766.

Interactioni

Protein-protein interaction databases

IntActiQ8IZU2. 1 interaction.
STRINGi9606.ENSP00000280190.

Structurei

3D structure databases

ProteinModelPortaliQ8IZU2.
SMRiQ8IZU2. Positions 378-763.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati81 – 12141WD 1Add
BLAST
Repeati123 – 16442WD 2Add
BLAST
Repeati171 – 21141WD 3Add
BLAST
Repeati221 – 26141WD 4Add
BLAST
Repeati266 – 30742WD 5Add
BLAST
Repeati391 – 43141WD 6Add
BLAST
Repeati434 – 47441WD 7Add
BLAST
Repeati478 – 51841WD 8Add
BLAST
Repeati519 – 55941WD 9Add
BLAST
Repeati564 – 60441WD 10Add
BLAST
Repeati607 – 64741WD 11Add
BLAST
Repeati650 – 69041WD 12Add
BLAST

Sequence similaritiesi

Contains 12 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IQU0. Eukaryota.
ENOG410Z2VH. LUCA.
GeneTreeiENSGT00810000125459.
HOGENOMiHOG000067976.
HOVERGENiHBG070328.
InParanoidiQ8IZU2.
OMAiIQRYCEL.
OrthoDBiEOG71ZP0S.
PhylomeDBiQ8IZU2.
TreeFamiTF323190.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR024977. Apc4_WD40_dom.
IPR020472. G-protein_beta_WD-40_rep.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF00400. WD40. 4 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 11 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
SSF50998. SSF50998. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IZU2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAWMTYISNW FEQDDWYEGL QRANMSQVRQ VGLLAAGCQP WNKDVCAASG
60 70 80 90 100
DRFAYCATLA IYIYQLDHRY NEFKLHAIMS EHKKTITAIS WCPHNPDLFA
110 120 130 140 150
SGSTDNLVII WNVAEQKVIA KLDSTKGIPA SLSWCWNAED VVAFVSHRGP
160 170 180 190 200
LFIWTISGPD SGVIVHKDAH SFLSDICMFR WHTHQKGKVV FGHIDGSLSI
210 220 230 240 250
FHPGNKNQKH VLRPESLEGT DEEDPVTALE WDPLSTDYLL VVNLHYGIRL
260 270 280 290 300
VDSESLSCIT TFNLPSAAAS VQCLAWVPSA PGMFITGDSQ VGVLRIWNVS
310 320 330 340 350
RTTPIDNLKL KKTGFHCLHV LNSPPRKKFS VQSPTKNHYT SSTSEAVPPP
360 370 380 390 400
TLTQNQAFSL PPGHAVCCFL DGGVGLYDMG AKKWDFLRDL GHVETIFDCK
410 420 430 440 450
FKPDDPNLLA TASFDGTIKV WDINTLTAVY TSPGNEGVIY SLSWAPGGLN
460 470 480 490 500
CIAGGTSRNG AFIWNVQKGK IIQRFNEHGT NGIFCIAWSH KDSKRIATCS
510 520 530 540 550
SDGFCIIRTI DGKVLHKYKH PAAVFGCDWS QNNKDMIATG CEDTNVRVYY
560 570 580 590 600
VATSSDQPLK VFSGHTAKVF HVKWSPLREG ILCSGSDDGT VRIWDYTQDA
610 620 630 640 650
CINILNGHTA PVRGLMWNTE IPYLLISGSW DYTIKVWDTR EGTCVDTVYD
660 670 680 690 700
HGADVYGLTC HPSRPFTMAS CSRDSTVRLW SLTALVTPVQ INILADRSWE
710 720 730 740 750
EIIGNTDYAI EPGTPPLLCG KVSRDIRQEI EKLTANSQVK KLRWFSECLS
760 770 780 790 800
PPGGSDNLWN LVAVIKGQDD SLLPQNYCKG IMHLKHLIKF RTSEAQELTT
810 820 830 840 850
VKMSKFGGGI GVPAKEERLK EAAEIHLRLG QIQRYCELMV ELGEWDKALS
860 870 880 890 900
IAPGVSVKYW KKLMQRRADQ LIQEDKDDVI PYCIAIGDVK KLVHFFMSRG
910 920 930 940 950
QLKEALLVAQ AACEGNMQPL HVSVPKGASY SDDIYKEDFN ELLHKVSKEL
960 970 980 990 1000
AEWYFQDGRA VLAACCHLAI DNIELAMAYL IRGNELELAV CVGTVLGESA
1010 1020 1030 1040 1050
APATHYALEL LARKCMMISV CFPCVGYSVP FCYVNRNLAA DLLLMIPDNE
1060 1070 1080 1090 1100
LHLIKLCAFY PGCTEEINDL HDKCKLPTVE ECMQLAETAR ADDNIFETVK
1110 1120 1130 1140 1150
YYLLSQEPEK ALPIGISFVK EYISSSDWTL DTIYPVLDLL SYIRTEKLLL
1160 1170 1180 1190 1200
HTCTEARNEL LILCGYIGAL LAIRRQYQSI VPALYEYTSQ LLKRREVSVP
1210 1220 1230 1240 1250
LKIEYLSEEL DAWRACTQST NRSLEDSPYT PPSDSQRMIY ATLLKRLKEE
1260 1270 1280 1290 1300
SLKGIIGPDY VTGSNLPSHS DIHISCLTGL KIQGPVFFLE DGKSAISLND
1310 1320
ALMWAKVNPF SPLGTGIRLN PF
Length:1,322
Mass (Da):147,703
Last modified:November 25, 2008 - v2
Checksum:i99FFCE51B9EA8175
GO
Isoform 2 (identifier: Q8IZU2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: Missing.
     1021-1036: CFPCVGYSVPFCYVNR → W

Note: No experimental confirmation available.
Show »
Length:1,283
Mass (Da):143,016
Checksum:i805643CB01B5A6B8
GO

Sequence cautioni

The sequence BC146812 differs from that shown. Reason: Frameshift at position 268. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti213 – 2131R → S in BC146812 (PubMed:15489334).Curated
Sequence conflicti783 – 7831H → Q in BC146812 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti418 – 4181I → V.
Corresponds to variant rs59567138 [ dbSNP | Ensembl ].
VAR_062101
Natural varianti814 – 8141A → T.1 Publication
Corresponds to variant rs4690661 [ dbSNP | Ensembl ].
VAR_047399
Natural varianti913 – 9131C → S.1 Publication
Corresponds to variant rs7693453 [ dbSNP | Ensembl ].
VAR_047400
Natural varianti952 – 9521E → K.
Corresponds to variant rs6810394 [ dbSNP | Ensembl ].
VAR_047401
Natural varianti1215 – 12151A → T.1 Publication
Corresponds to variant rs17625943 [ dbSNP | Ensembl ].
VAR_047402
Natural varianti1295 – 12951A → T.1 Publication
Corresponds to variant rs11736872 [ dbSNP | Ensembl ].
VAR_047403

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2424Missing in isoform 2. 2 PublicationsVSP_047201Add
BLAST
Alternative sequencei1021 – 103616CFPCV…CYVNR → W in isoform 2. 2 PublicationsVSP_047202Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF492460 mRNA. Translation: AAN64030.1.
AC093605 Genomic DNA. No translation available.
BC146812 mRNA. No translation available.
DQ426895 mRNA. Translation: ABD90546.1.
DQ426896 mRNA. Translation: ABD90547.1.
CCDSiCCDS3825.1. [Q8IZU2-1]
CCDS43284.2. [Q8IZU2-2]
RefSeqiNP_733828.2. NM_170710.4. [Q8IZU2-1]
NP_851782.3. NM_181265.3. [Q8IZU2-2]
UniGeneiHs.532056.
Hs.693278.

Genome annotation databases

EnsembliENST00000280190; ENSP00000280190; ENSG00000150627. [Q8IZU2-1]
ENST00000508596; ENSP00000422763; ENSG00000150627. [Q8IZU2-2]
GeneIDi116966.
KEGGihsa:116966.
UCSCiuc003iuj.4. human. [Q8IZU2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF492460 mRNA. Translation: AAN64030.1.
AC093605 Genomic DNA. No translation available.
BC146812 mRNA. No translation available.
DQ426895 mRNA. Translation: ABD90546.1.
DQ426896 mRNA. Translation: ABD90547.1.
CCDSiCCDS3825.1. [Q8IZU2-1]
CCDS43284.2. [Q8IZU2-2]
RefSeqiNP_733828.2. NM_170710.4. [Q8IZU2-1]
NP_851782.3. NM_181265.3. [Q8IZU2-2]
UniGeneiHs.532056.
Hs.693278.

3D structure databases

ProteinModelPortaliQ8IZU2.
SMRiQ8IZU2. Positions 378-763.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ8IZU2. 1 interaction.
STRINGi9606.ENSP00000280190.

PTM databases

PhosphoSiteiQ8IZU2.

Polymorphism and mutation databases

BioMutaiWDR17.
DMDMi215273912.

Proteomic databases

EPDiQ8IZU2.
MaxQBiQ8IZU2.
PaxDbiQ8IZU2.
PRIDEiQ8IZU2.

Protocols and materials databases

DNASUi116966.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000280190; ENSP00000280190; ENSG00000150627. [Q8IZU2-1]
ENST00000508596; ENSP00000422763; ENSG00000150627. [Q8IZU2-2]
GeneIDi116966.
KEGGihsa:116966.
UCSCiuc003iuj.4. human. [Q8IZU2-1]

Organism-specific databases

CTDi116966.
GeneCardsiWDR17.
H-InvDBHIX0004647.
HGNCiHGNC:16661. WDR17.
HPAiHPA042766.
MIMi609005. gene.
neXtProtiNX_Q8IZU2.
PharmGKBiPA38181.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IQU0. Eukaryota.
ENOG410Z2VH. LUCA.
GeneTreeiENSGT00810000125459.
HOGENOMiHOG000067976.
HOVERGENiHBG070328.
InParanoidiQ8IZU2.
OMAiIQRYCEL.
OrthoDBiEOG71ZP0S.
PhylomeDBiQ8IZU2.
TreeFamiTF323190.

Enzyme and pathway databases

SignaLinkiQ8IZU2.

Miscellaneous databases

GenomeRNAii116966.
NextBioi80040.
PROiQ8IZU2.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IZU2.
CleanExiHS_WDR17.
ExpressionAtlasiQ8IZU2. baseline and differential.
GenevisibleiQ8IZU2. HS.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiIPR024977. Apc4_WD40_dom.
IPR020472. G-protein_beta_WD-40_rep.
IPR011047. Quinoprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF12894. ANAPC4_WD40. 1 hit.
PF00400. WD40. 4 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 11 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
SSF50998. SSF50998. 1 hit.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 5 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of WDR17, a novel WD repeat-containing gene on chromosome 4q34."
    Stohr H., Mohr N., Frohlich S., Mehdi S.Q., Bhattacharya S.S., Weber B.H.F.
    Biochim. Biophys. Acta 1579:18-25(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-1295.
    Tissue: Retina.
  2. "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.
    , 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].
  3. "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), VARIANTS THR-814; SER-913 AND THR-1215.
  4. "Mapping of transcription start sites of human retina expressed genes."
    Roni V., Carpio R., Wissinger B.
    BMC Genomics 8:42-42(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-20 (ISOFORM 2).
    Tissue: Retina.

Entry informationi

Entry nameiWDR17_HUMAN
AccessioniPrimary (citable) accession number: Q8IZU2
Secondary accession number(s): E7EQX0, Q0QD35
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: November 25, 2008
Last modified: May 11, 2016
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.