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Protein

WD repeat-containing protein 41

Gene

WDR41

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

Functioni

Enzyme and pathway databases

SignaLinkiQ9HAD4.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 41
Gene namesi
Name:WDR41
ORF Names:MSTP048
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:25601. WDR41.

Subcellular locationi

GO - Cellular componenti

  • lysosomal membrane Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

DisGeNETi55255.
OpenTargetsiENSG00000164253.
PharmGKBiPA134906058.

Polymorphism and mutation databases

BioMutaiWDR41.
DMDMi134047969.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000513901 – 459WD repeat-containing protein 41Add BLAST459

Proteomic databases

EPDiQ9HAD4.
MaxQBiQ9HAD4.
PaxDbiQ9HAD4.
PeptideAtlasiQ9HAD4.
PRIDEiQ9HAD4.

PTM databases

iPTMnetiQ9HAD4.
PhosphoSitePlusiQ9HAD4.

Expressioni

Gene expression databases

BgeeiENSG00000164253.
CleanExiHS_WDR41.
ExpressionAtlasiQ9HAD4. baseline and differential.
GenevisibleiQ9HAD4. HS.

Organism-specific databases

HPAiHPA043124.

Interactioni

Protein-protein interaction databases

BioGridi120546. 11 interactors.
IntActiQ9HAD4. 8 interactors.
MINTiMINT-8329991.
STRINGi9606.ENSP00000296679.

Structurei

3D structure databases

ProteinModelPortaliQ9HAD4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati40 – 79WD 1Add BLAST40
Repeati82 – 128WD 2Add BLAST47
Repeati131 – 168WD 3Add BLAST38
Repeati220 – 258WD 4Add BLAST39
Repeati321 – 359WD 5Add BLAST39
Repeati403 – 441WD 6Add BLAST39

Sequence similaritiesi

Contains 6 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IGNH. Eukaryota.
ENOG410ZZCU. LUCA.
GeneTreeiENSGT00390000017026.
HOGENOMiHOG000060322.
HOVERGENiHBG079768.
InParanoidiQ9HAD4.
OMAiVVVWNAQ.
OrthoDBiEOG091G0RQL.
PhylomeDBiQ9HAD4.
TreeFamiTF332914.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 3 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 3 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: Q9HAD4-1) [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
MLRWLIGGGR EPQGLAEKSP LQTIGEEQTQ NPYTELLVLK AHHDIVRFLV
60 70 80 90 100
QLDDYRFASA GDDGIVVVWN AQTGEKLLEL NGHTQKITAI ITFPSLESCE
110 120 130 140 150
EKNQLILTAS ADRTVIVWDG DTTRQVQRIS CFQSTVKCLT VLQRLDVWLS
160 170 180 190 200
GGNDLCVWNR KLDLLCKTSH LSDTGISALV EIPKNCVVAA VGKELIIFRL
210 220 230 240 250
VAPTEGSLEW DILEVKRLLD HQDNILSLIN VNDLSFVTGS HVGELIIWDA
260 270 280 290 300
LDWTMQAYER NFWDPSPQLD TQQEIKLCQK SNDISIHHFT CDEENVFAAV
310 320 330 340 350
GRGLYVYSLQ MKRVIACQKT AHDSNVLHVA RLPNRQLISC SEDGSVRIWE
360 370 380 390 400
LREKQQLAAE PVPTGFFNMW GFGRVSKQAS QPVKKQQENA TSCSLELIGD
410 420 430 440 450
LIGHSSSVEM FLYFEDHGLV TCSADHLIIL WKNGERESGL RSLRLFQKLE

ENGDLYLAV
Length:459
Mass (Da):51,728
Last modified:March 20, 2007 - v3
Checksum:iAADC0725E29B5B84
GO
Isoform 2 (identifier: Q9HAD4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     18-72: Missing.

Note: No experimental confirmation available.
Show »
Length:404
Mass (Da):45,506
Checksum:i0DADE0C3D695AEA8
GO

Sequence cautioni

The sequence AAO06948 differs from that shown. Reason: Frameshift at position 188.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti365G → D in BAB13915 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03121561G → D.Corresponds to variant rs389319dbSNPEnsembl.1
Natural variantiVAR_031216260R → C.Corresponds to variant rs17751013dbSNPEnsembl.1
Natural variantiVAR_023777329V → I.2 PublicationsCorresponds to variant rs33204dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_05401418 – 72Missing in isoform 2. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF115511 mRNA. Translation: AAO06948.1. Frameshift.
AK001766 mRNA. Translation: BAA91895.1.
AK021855 mRNA. Translation: BAB13915.1.
AK023977 mRNA. Translation: BAB14749.1.
AK300058 mRNA. Translation: BAG61867.1.
AC010234 Genomic DNA. No translation available.
AC108173 Genomic DNA. No translation available.
BC040241 mRNA. Translation: AAH40241.1.
AL834138 mRNA. Translation: CAD38853.2.
CCDSiCCDS4038.1. [Q9HAD4-1]
RefSeqiNP_060738.2. NM_018268.3. [Q9HAD4-1]
UniGeneiHs.482573.
Hs.594265.

Genome annotation databases

EnsembliENST00000296679; ENSP00000296679; ENSG00000164253. [Q9HAD4-1]
ENST00000507029; ENSP00000424287; ENSG00000164253. [Q9HAD4-2]
GeneIDi55255.
KEGGihsa:55255.
UCSCiuc003kff.2. human. [Q9HAD4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF115511 mRNA. Translation: AAO06948.1. Frameshift.
AK001766 mRNA. Translation: BAA91895.1.
AK021855 mRNA. Translation: BAB13915.1.
AK023977 mRNA. Translation: BAB14749.1.
AK300058 mRNA. Translation: BAG61867.1.
AC010234 Genomic DNA. No translation available.
AC108173 Genomic DNA. No translation available.
BC040241 mRNA. Translation: AAH40241.1.
AL834138 mRNA. Translation: CAD38853.2.
CCDSiCCDS4038.1. [Q9HAD4-1]
RefSeqiNP_060738.2. NM_018268.3. [Q9HAD4-1]
UniGeneiHs.482573.
Hs.594265.

3D structure databases

ProteinModelPortaliQ9HAD4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120546. 11 interactors.
IntActiQ9HAD4. 8 interactors.
MINTiMINT-8329991.
STRINGi9606.ENSP00000296679.

PTM databases

iPTMnetiQ9HAD4.
PhosphoSitePlusiQ9HAD4.

Polymorphism and mutation databases

BioMutaiWDR41.
DMDMi134047969.

Proteomic databases

EPDiQ9HAD4.
MaxQBiQ9HAD4.
PaxDbiQ9HAD4.
PeptideAtlasiQ9HAD4.
PRIDEiQ9HAD4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000296679; ENSP00000296679; ENSG00000164253. [Q9HAD4-1]
ENST00000507029; ENSP00000424287; ENSG00000164253. [Q9HAD4-2]
GeneIDi55255.
KEGGihsa:55255.
UCSCiuc003kff.2. human. [Q9HAD4-1]

Organism-specific databases

CTDi55255.
DisGeNETi55255.
GeneCardsiWDR41.
HGNCiHGNC:25601. WDR41.
HPAiHPA043124.
neXtProtiNX_Q9HAD4.
OpenTargetsiENSG00000164253.
PharmGKBiPA134906058.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGNH. Eukaryota.
ENOG410ZZCU. LUCA.
GeneTreeiENSGT00390000017026.
HOGENOMiHOG000060322.
HOVERGENiHBG079768.
InParanoidiQ9HAD4.
OMAiVVVWNAQ.
OrthoDBiEOG091G0RQL.
PhylomeDBiQ9HAD4.
TreeFamiTF332914.

Enzyme and pathway databases

SignaLinkiQ9HAD4.

Miscellaneous databases

ChiTaRSiWDR41. human.
GenomeRNAii55255.
PROiQ9HAD4.

Gene expression databases

BgeeiENSG00000164253.
CleanExiHS_WDR41.
ExpressionAtlasiQ9HAD4. baseline and differential.
GenevisibleiQ9HAD4. HS.

Family and domain databases

Gene3Di2.130.10.10. 2 hits.
InterProiIPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 3 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 3 hits.
PROSITEiPS00678. WD_REPEATS_1. 2 hits.
PS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWDR41_HUMAN
AccessioniPrimary (citable) accession number: Q9HAD4
Secondary accession number(s): B4DT55
, Q7Z792, Q8IWG3, Q8IXA9, Q8NDA7, Q9NV62
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: March 20, 2007
Last modified: November 2, 2016
This is version 129 of the entry and version 3 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 5
    Human chromosome 5: 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. 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.