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Protein

WD repeat-containing protein 41

Gene

WDR41

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Non-catalytic component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex promotes the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27103069, PubMed:27617292).4 Publications

Caution

GO - Biological processi

  • autophagy Source: UniProtKB-KW
  • regulation of autophagy Source: UniProtKB
  • regulation of molecular function Source: GOC

Keywordsi

Biological processAutophagy

Enzyme and pathway databases

SignaLinkiQ9HAD4

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 41Curated
Gene namesi
Name:WDR41Imported
ORF Names:MSTP048
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000164253.12
HGNCiHGNC:25601 WDR41
MIMi617502 gene
neXtProtiNX_Q9HAD4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

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

Subunit structurei

Component of the C9orf72-SMCR8 complex, at least composed of C9orf72, SMCR8 and WDR41 (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex associates with the ATG1/ULK1 kinase complex (PubMed:27617292, PubMed:28195531).4 Publications

Protein-protein interaction databases

BioGridi12054613 interactors.
IntActiQ9HAD4 8 interactors.
MINTiQ9HAD4
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

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IGNH Eukaryota
ENOG410ZZCU LUCA
GeneTreeiENSGT00390000017026
HOGENOMiHOG000060322
HOVERGENiHBG079768
InParanoidiQ9HAD4
OMAiFFNMWGF
OrthoDBiEOG091G0RQL
PhylomeDBiQ9HAD4
TreeFamiTF332914

Family and domain databases

Gene3Di2.130.10.101 hit
InterProiView protein in InterPro
IPR020472 G-protein_beta_WD-40_rep
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR019775 WD40_repeat_CS
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 3 hits
PRINTSiPR00320 GPROTEINBRPT
SMARTiView protein in SMART
SM00320 WD40, 6 hits
SUPFAMiSSF50978 SSF50978, 3 hits
PROSITEiView protein in PROSITE
PS00678 WD_REPEATS_1, 2 hits
PS50082 WD_REPEATS_2, 3 hits
PS50294 WD_REPEATS_REGION, 2 hits

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 dbSNP:rs389319Ensembl.1
Natural variantiVAR_031216260R → C. Corresponds to variant dbSNP:rs17751013Ensembl.1
Natural variantiVAR_023777329V → I2 PublicationsCorresponds to variant dbSNP:rs33204Ensembl.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

Similar proteinsi

Entry informationi

Entry nameiWDR41_HUMAN
AccessioniPrimary (citable) accession number: Q9HAD4
Secondary accession number(s): B4DT55
, Q7Z792, Q8IWG3, Q8IXA9, Q8NDA7, Q9NV62
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 22, 2005
Last sequence update: March 20, 2007
Last modified: February 28, 2018
This is version 139 of the entry and version 3 of the sequence. See 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