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Protein

WD repeat-containing protein 44

Gene

WDR44

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

Functioni

Downstream effector for RAB11. May be involved in vesicle recycling (By similarity).By similarity

Enzyme and pathway databases

SignaLinkiQ5JSH3.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 44
Alternative name(s):
Rabphilin-11
Gene namesi
Name:WDR44
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:30512. WDR44.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Endosome, Golgi apparatus, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000131725.
PharmGKBiPA128394668.

Polymorphism and mutation databases

BioMutaiWDR44.
DMDMi74762196.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00002627692 – 913WD repeat-containing protein 44Add BLAST912

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei3PhosphoserineCombined sources1
Modified residuei11PhosphotyrosineCombined sources1
Modified residuei27PhosphoserineCombined sources1
Modified residuei50PhosphoserineCombined sources1
Modified residuei66PhosphoserineCombined sources1
Modified residuei71PhosphoserineCombined sources1
Modified residuei81PhosphoserineCombined sources1
Modified residuei96PhosphoserineCombined sources1
Modified residuei126PhosphoserineCombined sources1
Modified residuei158PhosphothreonineCombined sources1
Modified residuei219PhosphothreonineCombined sources1
Modified residuei262PhosphoserineCombined sources1
Modified residuei271PhosphothreonineCombined sources1
Modified residuei342PhosphoserineCombined sources1
Modified residuei344PhosphoserineCombined sources1
Modified residuei349PhosphothreonineCombined sources1
Modified residuei403PhosphoserineCombined sources1
Modified residuei470PhosphoserineCombined sources1
Modified residuei471PhosphoserineCombined sources1
Modified residuei472PhosphoserineCombined sources1
Modified residuei479PhosphotyrosineBy similarity1
Modified residuei561PhosphoserineCombined sources1
Modified residuei565PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ5JSH3.
MaxQBiQ5JSH3.
PaxDbiQ5JSH3.
PeptideAtlasiQ5JSH3.
PRIDEiQ5JSH3.

PTM databases

iPTMnetiQ5JSH3.
PhosphoSitePlusiQ5JSH3.

Expressioni

Gene expression databases

BgeeiENSG00000131725.
CleanExiHS_WDR44.
ExpressionAtlasiQ5JSH3. baseline and differential.
GenevisibleiQ5JSH3. HS.

Organism-specific databases

HPAiHPA038084.
HPA046719.

Interactioni

Subunit structurei

Interacts with the GTP-bound form of RAB11 when membrane-associated. Does not bind to other Rab and Rho small G proteins (By similarity).By similarity

Protein-protein interaction databases

BioGridi120014. 35 interactors.
IntActiQ5JSH3. 4 interactors.
MINTiMINT-4650026.
STRINGi9606.ENSP00000254029.

Structurei

3D structure databases

ProteinModelPortaliQ5JSH3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati509 – 548WD 1Add BLAST40
Repeati605 – 643WD 2Add BLAST39
Repeati645 – 685WD 3Add BLAST41
Repeati690 – 729WD 4Add BLAST40
Repeati740 – 779WD 5Add BLAST40
Repeati784 – 823WD 6Add BLAST40
Repeati876 – 913WD 7Add BLAST38

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 170Binding activityAdd BLAST169

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili119 – 184Sequence analysisAdd BLAST66

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi211 – 257Pro-richAdd BLAST47

Sequence similaritiesi

Contains 7 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0283. Eukaryota.
ENOG410XQPJ. LUCA.
GeneTreeiENSGT00530000063479.
HOGENOMiHOG000267152.
HOVERGENiHBG080376.
InParanoidiQ5JSH3.
KOiK20241.
OMAiKTDHTEV.
OrthoDBiEOG091G0290.
PhylomeDBiQ5JSH3.
TreeFamiTF329226.

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.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 4 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
PROSITEiPS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5JSH3-1) [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
MASESDTEEF YDAPEDVHLG GGYPVGSPGK VGLSTFKETE NTAYKVGNES
60 70 80 90 100
PVQELKQDVS KKIIESIIEE SQKVLQLEDD SLDSKGKELS DQATASPIVA
110 120 130 140 150
RTDLSNIPGL LAIDQVLPEE SQKAESQNTF EETELELKKC FPSDETCEKP
160 170 180 190 200
VDETTKLTQT SSTEQLNVLE TETEVLNKEA VEVKGGGDVL EPVSSDSLST
210 220 230 240 250
KDFAAVEEVA PAKPPRHLTP EPDIVASTKK PVPARPPPPT NFPPPRPPPP
260 270 280 290 300
SRPAPPPRKR KSELEFETLK TPDIDVPKEN ITSDSLLTAS MASESTVKDS
310 320 330 340 350
QPSLDLASAT SGDKIVTAQE NGKAPDGQTV AGEVMGPQRP RSNSGRELTD
360 370 380 390 400
EEILASVMIK NLDTGEEIPL SLAEEKLPTG INPLTLHIMR RTKEYVSNDA
410 420 430 440 450
AQSDDEEKLQ SQPTDTDGGR LKQKTTQLKK FLGKSVKRAK HLAEEYGERA
460 470 480 490 500
INKVKSVRDE VFHTDQDDPS SSDDEGMPYT RPVKFKAAHG FKGPYDFDQI
510 520 530 540 550
KVVQDLSGEH MGAVWTMKFS HCGRLLASAG QDNVVRIWAL KNAFDYFNNM
560 570 580 590 600
RMKYNTEGRV SPSPSQESLS SSKSDTDTGV CSGTDEDPDD KNAPFRQRPF
610 620 630 640 650
CKYKGHTADL LDLSWSKNYF LLSSSMDKTV RLWHISRREC LCCFQHIDFV
660 670 680 690 700
TAIAFHPRDD RYFLSGSLDG KLRLWNIPDK KVALWNEVDG QTKLITAANF
710 720 730 740 750
CQNGKYAVIG TYDGRCIFYD TEHLKYHTQI HVRSTRGRNK VGRKITGIEP
760 770 780 790 800
LPGENKILVT SNDSRIRLYD LRDLSLSMKY KGYVNSSSQI KASFSHDFTY
810 820 830 840 850
LVSGSEDKYV YIWSTYHDLS KFTSVRRDRN DFWEGIKAHN AVVTSAIFAP
860 870 880 890 900
NPSLMLSLDV QSEKSEGNEK SEDAEVLDAT PSGIMKTDNT EVLLSADFTG
910
AIKVFVNKRK NVS
Length:913
Mass (Da):101,366
Last modified:February 15, 2005 - v1
Checksum:i8E43761C542DD6B9
GO
Isoform 2 (identifier: Q5JSH3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     796-803: Missing.

Note: No experimental confirmation available.
Show »
Length:905
Mass (Da):100,403
Checksum:i81A8AAA300D4FE9F
GO
Isoform 3 (identifier: Q5JSH3-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-473: Missing.
     474-477: DEGM → MVNV
     884-913: IMKTDNTEVLLSADFTGAIKVFVNKRKNVS → AVAHACNPSTLGGRGRRIT

Note: No experimental confirmation available.
Show »
Length:429
Mass (Da):48,565
Checksum:iB6AA91342F478464
GO
Isoform 4 (identifier: Q5JSH3-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     37-61: Missing.
     659-722: Missing.

Note: No experimental confirmation available.
Show »
Length:824
Mass (Da):91,272
Checksum:i015DB327476F0083
GO

Sequence cautioni

The sequence BAA92015 differs from that shown. Reason: Frameshift at position 792.Curated
The sequence BAC03799 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti89L → P in CAD97788 (PubMed:17974005).Curated1
Sequence conflicti96S → G in CAL38210 (PubMed:17974005).Curated1
Sequence conflicti194S → P in AAH28697 (PubMed:15489334).Curated1
Sequence conflicti206V → A in CAL38662 (PubMed:17974005).Curated1
Sequence conflicti250P → L in CAL38662 (PubMed:17974005).Curated1
Sequence conflicti276V → A in BAG61611 (PubMed:14702039).Curated1
Sequence conflicti331A → P in CAD98010 (PubMed:17974005).Curated1
Sequence conflicti380G → D in CAL38210 (PubMed:17974005).Curated1
Sequence conflicti473D → N in CAL38662 (PubMed:17974005).Curated1
Sequence conflicti534V → A in CAD97788 (PubMed:17974005).Curated1
Sequence conflicti539A → L in CAD97788 (PubMed:17974005).Curated1
Sequence conflicti547F → L in BAG61611 (PubMed:14702039).Curated1
Sequence conflicti586E → G in CAD97788 (PubMed:17974005).Curated1
Sequence conflicti613L → P in CAL38662 (PubMed:17974005).Curated1
Sequence conflicti649 – 650Missing in BAA92015 (PubMed:14702039).Curated2
Sequence conflicti740K → R in CAL38210 (PubMed:17974005).Curated1
Sequence conflicti740K → R in CAL38662 (PubMed:17974005).Curated1
Sequence conflicti858L → S in CAL38662 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_029538289A → T.1 PublicationCorresponds to variant rs17271416dbSNPEnsembl.1
Natural variantiVAR_029539296T → A.1 PublicationCorresponds to variant rs17855531dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0218071 – 473Missing in isoform 3. 1 PublicationAdd BLAST473
Alternative sequenceiVSP_04663737 – 61Missing in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_021808474 – 477DEGM → MVNV in isoform 3. 1 Publication4
Alternative sequenceiVSP_046638659 – 722Missing in isoform 4. 1 PublicationAdd BLAST64
Alternative sequenceiVSP_021809796 – 803Missing in isoform 2. 1 Publication8
Alternative sequenceiVSP_021810884 – 913IMKTD…RKNVS → AVAHACNPSTLGGRGRRIT in isoform 3. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001978 mRNA. Translation: BAA92015.1. Sequence problems.
AK092077 mRNA. Translation: BAC03799.1. Different initiation.
AK127556 mRNA. Translation: BAC87033.1.
AK299711 mRNA. Translation: BAG61611.1.
AM393332 mRNA. Translation: CAL38210.1.
AM393787 mRNA. Translation: CAL38662.1.
BX537578 mRNA. Translation: CAD97788.1.
BX538087 mRNA. Translation: CAD98010.1.
AL391474, AL391803, AL391830 Genomic DNA. Translation: CAI41402.1.
AL391474, AL391803, AL391830 Genomic DNA. Translation: CAI41403.1.
AL391803, AL391474, AL391830 Genomic DNA. Translation: CAI41482.1.
AL391803, AL391474, AL391830 Genomic DNA. Translation: CAI41483.1.
AL391830, AL391474, AL391803 Genomic DNA. Translation: CAI41512.1.
AL391830, AL391474, AL391803 Genomic DNA. Translation: CAI41513.1.
BC028697 mRNA. Translation: AAH28697.3.
CCDSiCCDS14572.1. [Q5JSH3-1]
CCDS55482.1. [Q5JSH3-2]
CCDS55483.1. [Q5JSH3-4]
RefSeqiNP_001171894.1. NM_001184965.1. [Q5JSH3-2]
NP_001171895.1. NM_001184966.1. [Q5JSH3-4]
NP_061918.3. NM_019045.4. [Q5JSH3-1]
UniGeneiHs.98510.

Genome annotation databases

EnsembliENST00000254029; ENSP00000254029; ENSG00000131725. [Q5JSH3-1]
ENST00000371822; ENSP00000360887; ENSG00000131725. [Q5JSH3-4]
ENST00000371825; ENSP00000360890; ENSG00000131725. [Q5JSH3-2]
GeneIDi54521.
KEGGihsa:54521.
UCSCiuc004eqn.4. human. [Q5JSH3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK001978 mRNA. Translation: BAA92015.1. Sequence problems.
AK092077 mRNA. Translation: BAC03799.1. Different initiation.
AK127556 mRNA. Translation: BAC87033.1.
AK299711 mRNA. Translation: BAG61611.1.
AM393332 mRNA. Translation: CAL38210.1.
AM393787 mRNA. Translation: CAL38662.1.
BX537578 mRNA. Translation: CAD97788.1.
BX538087 mRNA. Translation: CAD98010.1.
AL391474, AL391803, AL391830 Genomic DNA. Translation: CAI41402.1.
AL391474, AL391803, AL391830 Genomic DNA. Translation: CAI41403.1.
AL391803, AL391474, AL391830 Genomic DNA. Translation: CAI41482.1.
AL391803, AL391474, AL391830 Genomic DNA. Translation: CAI41483.1.
AL391830, AL391474, AL391803 Genomic DNA. Translation: CAI41512.1.
AL391830, AL391474, AL391803 Genomic DNA. Translation: CAI41513.1.
BC028697 mRNA. Translation: AAH28697.3.
CCDSiCCDS14572.1. [Q5JSH3-1]
CCDS55482.1. [Q5JSH3-2]
CCDS55483.1. [Q5JSH3-4]
RefSeqiNP_001171894.1. NM_001184965.1. [Q5JSH3-2]
NP_001171895.1. NM_001184966.1. [Q5JSH3-4]
NP_061918.3. NM_019045.4. [Q5JSH3-1]
UniGeneiHs.98510.

3D structure databases

ProteinModelPortaliQ5JSH3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120014. 35 interactors.
IntActiQ5JSH3. 4 interactors.
MINTiMINT-4650026.
STRINGi9606.ENSP00000254029.

PTM databases

iPTMnetiQ5JSH3.
PhosphoSitePlusiQ5JSH3.

Polymorphism and mutation databases

BioMutaiWDR44.
DMDMi74762196.

Proteomic databases

EPDiQ5JSH3.
MaxQBiQ5JSH3.
PaxDbiQ5JSH3.
PeptideAtlasiQ5JSH3.
PRIDEiQ5JSH3.

Protocols and materials databases

DNASUi54521.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000254029; ENSP00000254029; ENSG00000131725. [Q5JSH3-1]
ENST00000371822; ENSP00000360887; ENSG00000131725. [Q5JSH3-4]
ENST00000371825; ENSP00000360890; ENSG00000131725. [Q5JSH3-2]
GeneIDi54521.
KEGGihsa:54521.
UCSCiuc004eqn.4. human. [Q5JSH3-1]

Organism-specific databases

CTDi54521.
GeneCardsiWDR44.
H-InvDBHIX0017006.
HGNCiHGNC:30512. WDR44.
HPAiHPA038084.
HPA046719.
neXtProtiNX_Q5JSH3.
OpenTargetsiENSG00000131725.
PharmGKBiPA128394668.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0283. Eukaryota.
ENOG410XQPJ. LUCA.
GeneTreeiENSGT00530000063479.
HOGENOMiHOG000267152.
HOVERGENiHBG080376.
InParanoidiQ5JSH3.
KOiK20241.
OMAiKTDHTEV.
OrthoDBiEOG091G0290.
PhylomeDBiQ5JSH3.
TreeFamiTF329226.

Enzyme and pathway databases

SignaLinkiQ5JSH3.

Miscellaneous databases

GeneWikiiWDR44.
GenomeRNAii54521.
PROiQ5JSH3.

Gene expression databases

BgeeiENSG00000131725.
CleanExiHS_WDR44.
ExpressionAtlasiQ5JSH3. baseline and differential.
GenevisibleiQ5JSH3. 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.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 4 hits.
[Graphical view]
PRINTSiPR00320. GPROTEINBRPT.
SMARTiSM00320. WD40. 6 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 2 hits.
PROSITEiPS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiWDR44_HUMAN
AccessioniPrimary (citable) accession number: Q5JSH3
Secondary accession number(s): B4DSE9
, F8W913, Q0JS52, Q0JTF3, Q5JSH2, Q6ZSC1, Q7Z365, Q7Z3P6, Q8NAU8, Q8NHU5, Q9NUV4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: February 15, 2005
Last modified: November 2, 2016
This is version 125 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. 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.