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Protein

WD repeat domain phosphoinositide-interacting protein 4

Gene

WDR45

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

Functioni

Plays an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.1 Publication

GO - Molecular functioni

GO - Biological processi

  • autophagy Source: UniProtKB
  • autophagy of mitochondrion Source: GO_Central
  • autophagy of nucleus Source: GO_Central
  • protein lipidation Source: GO_Central
  • protein localization to phagophore assembly site Source: GO_Central

Keywordsi

Biological processAutophagy

Enzyme and pathway databases

ReactomeiR-HSA-1632852 Macroautophagy
SignaLinkiQ9Y484

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat domain phosphoinositide-interacting protein 4
Short name:
WIPI-4
Alternative name(s):
WD repeat-containing protein 45
Gene namesi
Name:WDR45
Synonyms:WDRX1, WDRXI4, WIPI4
ORF Names:JM5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000196998.16
HGNCiHGNC:28912 WDR45
MIMi300526 gene
neXtProtiNX_Q9Y484

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

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration with brain iron accumulation 5 (NBIA5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA5 is characterized by global developmental delay in early childhood that is essentially static, with slow motor and cognitive gains until adolescence or early adulthood. In young adulthood, affected individuals develop progressive dystonia, parkinsonism, extrapyramidal signs, and dementia resulting in severe disability.
See also OMIM:300894
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0786457 – 360Missing in NBIA5. 1 PublicationAdd BLAST354

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNETi11152
MalaCardsiWDR45
MIMi300894 phenotype
OpenTargetsiENSG00000196998
Orphaneti329284 Beta-propeller protein-associated neurodegeneration
PharmGKBiPA134927673

Polymorphism and mutation databases

BioMutaiWDR45
DMDMi74762056

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000514521 – 360WD repeat domain phosphoinositide-interacting protein 4Add BLAST360

Proteomic databases

EPDiQ9Y484
PaxDbiQ9Y484
PeptideAtlasiQ9Y484
PRIDEiQ9Y484

PTM databases

iPTMnetiQ9Y484
PhosphoSitePlusiQ9Y484
SwissPalmiQ9Y484

Expressioni

Tissue specificityi

Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors.1 Publication

Gene expression databases

BgeeiENSG00000196998
CleanExiHS_WDR45
ExpressionAtlasiQ9Y484 baseline and differential
GenevisibleiQ9Y484 HS

Organism-specific databases

HPAiHPA027562

Interactioni

Protein-protein interaction databases

BioGridi116323, 20 interactors
IntActiQ9Y484, 10 interactors
STRINGi9606.ENSP00000348848

Structurei

3D structure databases

ProteinModelPortaliQ9Y484
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati1 – 34WD 1Add BLAST34
Repeati40 – 84WD 2Add BLAST45
Repeati92 – 128WD 3Add BLAST37
Repeati133 – 174WD 4Add BLAST42
Repeati183 – 222WD 5Add BLAST40
Repeati227 – 266WD 6Add BLAST40
Repeati284 – 329WD 7Add BLAST46

Sequence similaritiesi

Belongs to the WD repeat SVP1 family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2111 Eukaryota
ENOG410XQZ6 LUCA
GeneTreeiENSGT00730000110940
HOGENOMiHOG000217543
HOVERGENiHBG053275
InParanoidiQ9Y484
OMAiTVPPECA
PhylomeDBiQ9Y484
TreeFamiTF314859

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR036322 WD40_repeat_dom_sf
IPR032910 WIPI4
PANTHERiPTHR11227:SF44 PTHR11227:SF44, 1 hit
PfamiView protein in Pfam
PF00400 WD40, 1 hit
SMARTiView protein in SMART
SM00320 WD40, 4 hits
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y484-1) [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
MTQQPLRGVT SLRFNQDQSC FCCAMETGVR IYNVEPLMEK GHLDHEQVGS
60 70 80 90 100
MGLVEMLHRS NLLALVGGGS SPKFSEISVL IWDDAREGKD SKEKLVLEFT
110 120 130 140 150
FTKPVLSVRM RHDKIVIVLK NRIYVYSFPD NPRKLFEFDT RDNPKGLCDL
160 170 180 190 200
CPSLEKQLLV FPGHKCGSLQ LVDLASTKPG TSSAPFTINA HQSDIACVSL
210 220 230 240 250
NQPGTVVASA SQKGTLIRLF DTQSKEKLVE LRRGTDPATL YCINFSHDSS
260 270 280 290 300
FLCASSDKGT VHIFALKDTR LNRRSALARV GKVGPMIGQY VDSQWSLASF
310 320 330 340 350
TVPAESACIC AFGRNTSKNV NSVIAICVDG TFHKYVFTPD GNCNREAFDV
360
YLDICDDDDF
Length:360
Mass (Da):39,868
Last modified:November 1, 1999 - v1
Checksum:iE1A6746277182AF9
GO
Isoform 2 (identifier: Q9Y484-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     145-145: K → KAAHPTPHLHTL

Note: No experimental confirmation available.
Show »
Length:371
Mass (Da):41,044
Checksum:i2837B845913E4BD1
GO
Isoform 3 (identifier: Q9Y484-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     78-78: S → SA

Note: No experimental confirmation available.
Show »
Length:361
Mass (Da):39,939
Checksum:i780640AF2B1D2A63
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti217I → T in CAG33006 (Ref. 3) Curated1
Sequence conflicti300 – 302FTV → YTA in AAV80764 (PubMed:15602573).Curated3

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0786457 – 360Missing in NBIA5. 1 PublicationAdd BLAST354

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_01697578S → SA in isoform 3. 1 Publication1
Alternative sequenceiVSP_016976145K → KAAHPTPHLHTL in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY691428 mRNA Translation: AAV80764.1
AJ005897 mRNA Translation: CAA06754.1
CR456725 mRNA Translation: CAG33006.1
AF196779 Genomic DNA No translation available.
CH471224 Genomic DNA Translation: EAW50697.1
CH471224 Genomic DNA Translation: EAW50702.1
BC000464 mRNA Translation: AAH00464.1
BC003037 mRNA Translation: AAH03037.1
BC009027 mRNA Translation: AAH09027.1
BC069206 mRNA Translation: AAH69206.1
CCDSiCCDS14318.1 [Q9Y484-3]
CCDS35250.1 [Q9Y484-1]
RefSeqiNP_001025067.1, NM_001029896.1 [Q9Y484-1]
NP_009006.2, NM_007075.3 [Q9Y484-3]
UniGeneiHs.632807

Genome annotation databases

EnsembliENST00000322995; ENSP00000365543; ENSG00000196998 [Q9Y484-2]
ENST00000356463; ENSP00000348848; ENSG00000196998 [Q9Y484-3]
ENST00000376368; ENSP00000365546; ENSG00000196998 [Q9Y484-3]
ENST00000376372; ENSP00000365551; ENSG00000196998 [Q9Y484-1]
ENST00000634944; ENSP00000488972; ENSG00000196998 [Q9Y484-1]
GeneIDi11152
KEGGihsa:11152
UCSCiuc004dmk.2 human [Q9Y484-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiWIPI4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y484
Secondary accession number(s): A6NGH5
, B7WPI2, Q5MNZ5, Q6IBS7, Q6NT94, Q96H03
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: November 1, 1999
Last modified: May 23, 2018
This is version 145 of the entry and version 1 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

Documents

  1. Human chromosome X
    Human chromosome X: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. SIMILARITY comments
    Index of protein domains and families

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