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Protein

WD repeat domain phosphoinositide-interacting protein 4

Gene

WDR45

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

  • autophagosome assembly Source: GO_Central
  • autophagy Source: UniProtKB
  • mitophagy Source: GO_Central
  • nucleophagy Source: GO_Central
  • protein lipidation Source: GO_Central
  • protein localization to pre-autophagosomal structure Source: GO_Central
Complete GO annotation...

Keywords - Biological processi

Autophagy

Enzyme and pathway databases

BioCyciZFISH:G66-31617-MONOMER.
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

HGNCiHGNC:28912. WDR45.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Neurodegeneration with brain iron accumulation 5 (NBIA5)1 Publication
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

Keywords - Diseasei

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

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. 16 interactors.
IntActiQ9Y484. 9 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
Contains 7 WD repeats.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG2111. Eukaryota.
ENOG410XQZ6. LUCA.
GeneTreeiENSGT00730000110940.
HOGENOMiHOG000217543.
HOVERGENiHBG053275.
InParanoidiQ9Y484.
OMAiXLLCASS.
PhylomeDBiQ9Y484.
TreeFamiTF314859.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
IPR032910. WIPI4.
[Graphical view]
PANTHERiPTHR11227:SF29. PTHR11227:SF29. 1 hit.
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
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

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9Y484.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116323. 16 interactors.
IntActiQ9Y484. 9 interactors.
STRINGi9606.ENSP00000348848.

PTM databases

iPTMnetiQ9Y484.
PhosphoSitePlusiQ9Y484.
SwissPalmiQ9Y484.

Polymorphism and mutation databases

BioMutaiWDR45.
DMDMi74762056.

Proteomic databases

PaxDbiQ9Y484.
PeptideAtlasiQ9Y484.
PRIDEiQ9Y484.

Protocols and materials databases

DNASUi11152.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi11152.
DisGeNETi11152.
GeneCardsiWDR45.
HGNCiHGNC:28912. WDR45.
HPAiHPA027562.
MalaCardsiWDR45.
MIMi300526. gene.
300894. phenotype.
neXtProtiNX_Q9Y484.
OpenTargetsiENSG00000196998.
Orphaneti329284. Beta-propeller protein-associated neurodegeneration.
PharmGKBiPA134927673.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2111. Eukaryota.
ENOG410XQZ6. LUCA.
GeneTreeiENSGT00730000110940.
HOGENOMiHOG000217543.
HOVERGENiHBG053275.
InParanoidiQ9Y484.
OMAiXLLCASS.
PhylomeDBiQ9Y484.
TreeFamiTF314859.

Enzyme and pathway databases

BioCyciZFISH:G66-31617-MONOMER.
ReactomeiR-HSA-1632852. Macroautophagy.
SignaLinkiQ9Y484.

Miscellaneous databases

GeneWikiiWDR45.
GenomeRNAii11152.
PROiQ9Y484.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000196998.
CleanExiHS_WDR45.
ExpressionAtlasiQ9Y484. baseline and differential.
GenevisibleiQ9Y484. HS.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
IPR032910. WIPI4.
[Graphical view]
PANTHERiPTHR11227:SF29. PTHR11227:SF29. 1 hit.
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiWIPI4_HUMAN
AccessioniPrimary (citable) accession number: Q9Y484
Secondary accession number(s): A6NGH5
, B7WPI2, Q5MNZ5, Q6IBS7, Q6NT94, Q96H03
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 10, 2006
Last sequence update: November 1, 1999
Last modified: November 2, 2016
This is version 134 of the entry and version 1 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. 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.