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Protein

WD repeat-containing protein 78

Gene

WDR78

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

Functioni

GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

SignaLinkiQ5VTH9

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 78
Gene namesi
Name:WDR78
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000152763.16
HGNCiHGNC:26252 WDR78
neXtProtiNX_Q5VTH9

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

Organism-specific databases

DisGeNETi79819
OpenTargetsiENSG00000152763
PharmGKBiPA142670582

Polymorphism and mutation databases

BioMutaiWDR78
DMDMi74756797

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002627731 – 848WD repeat-containing protein 78Add BLAST848

Proteomic databases

EPDiQ5VTH9
PaxDbiQ5VTH9
PeptideAtlasiQ5VTH9
PRIDEiQ5VTH9
ProteomicsDBi65329
65330 [Q5VTH9-2]
65331 [Q5VTH9-3]

PTM databases

iPTMnetiQ5VTH9
PhosphoSitePlusiQ5VTH9

Expressioni

Gene expression databases

BgeeiENSG00000152763
CleanExiHS_WDR78
ExpressionAtlasiQ5VTH9 baseline and differential
GenevisibleiQ5VTH9 HS

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ5VTH9, 1 interactor
STRINGi9606.ENSP00000360065

Structurei

3D structure databases

ProteinModelPortaliQ5VTH9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati534 – 574WD 1Add BLAST41
Repeati583 – 631WD 2Add BLAST49
Repeati658 – 698WD 3Add BLAST41
Repeati702 – 742WD 4Add BLAST41
Repeati745 – 784WD 5Add BLAST40
Repeati790 – 829WD 6Add BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili438 – 468Sequence analysisAdd BLAST31

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi431 – 465Glu-richAdd BLAST35

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IU36 Eukaryota
ENOG410YJ9J LUCA
GeneTreeiENSGT00730000110228
HOVERGENiHBG059084
InParanoidiQ5VTH9
OMAiPSMLGQF
OrthoDBiEOG091G07ZY
PhylomeDBiQ5VTH9
TreeFamiTF300553

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR001680 WD40_repeat
IPR017986 WD40_repeat_dom
IPR036322 WD40_repeat_dom_sf
PfamiView protein in Pfam
PF00400 WD40, 2 hits
SMARTiView protein in SMART
SM00320 WD40, 5 hits
SUPFAMiSSF50978 SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50082 WD_REPEATS_2, 2 hits
PS50294 WD_REPEATS_REGION, 1 hit

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q5VTH9-1) [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
MTPGKHSGAS ARAANGGAWG YRDFRGGQKK GWCTTPQLVA TMPVSPAGSH
60 70 80 90 100
KQQNFGLNNA TQPKKSISFF ATMKATSVKG YTGANQSRMA VSKTVLIPPE
110 120 130 140 150
LKTVEKPNPN IKTTQVFDIN GTDVTPRPLY HPDPLTGTAK PSKLLTSQEG
160 170 180 190 200
SLGSEFISSY SLYQNTINPS TLGQFTRSVL GSSTVSKSSV SASESIAEDL
210 220 230 240 250
EEPSYKRERL TSFTDLQVIR AAPEKIVTKE DLEKNIEIIL TETETLRFFD
260 270 280 290 300
LPTVMVSVES EEAEKVTQRN KNYEVLCRNR LGNDLYVERM MQTFNGAPKN
310 320 330 340 350
KDVQCDKIIM EDKGIMSTAW DLYDSYNAME LVSLSVKQSV VESSSKANVL
360 370 380 390 400
PKDQDQRLPG STTEKNSETS SLMDIENVIL AKIHEDEEDH SDAILKSDKF
410 420 430 440 450
HQDLFFMERV LMENIFQPKL AAYRQLPVLK EPEPEEPEDV LESAKHEEVE
460 470 480 490 500
EESKKEEEEE IHAEESTIPA NLERLWSFSC DLTKGLNVSS LAWNKTNPDL
510 520 530 540 550
LAVGYGHFGF KEQKRGLACC WSIKNPMWPE RIYQSPYGVT AVDFSIGAPN
560 570 580 590 600
LLAVGYHNGT IAIYNVRSNS NVPVLDSSES PQKHLGPVWQ LQWIEQDRGT
610 620 630 640 650
TGDGKREILV SISADGRISK WVIRKGLDCY DLMRLKRTTA ASNKKGGEKE
660 670 680 690 700
KKDEALISRQ APGMCFAFHP KDTNIYLAGT EEGHIHKCSC SYNEQYLDTY
710 720 730 740 750
RGHKGPVYKV TWNPFCHDVF LSCSADWGVI IWQQENVKPS LSFYPATSVV
760 770 780 790 800
YDVAWSPKSS YIFAAANENR VEIWDLHIST LDPLIVNTAN PGIKFTTILF
810 820 830 840
AKQTDCLLVG DSDGQVSVYE LRNMPTVLET GRGDIMDTLL GSKSNQSA
Length:848
Mass (Da):94,573
Last modified:December 7, 2004 - v1
Checksum:iED3E0BA7272E67AE
GO
Isoform 2 (identifier: Q5VTH9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     528-545: WPERIYQSPYGVTAVDFS → VTQTRIRSIFIWLLTKFS
     546-848: Missing.

Note: No experimental confirmation available.
Show »
Length:545
Mass (Da):60,992
Checksum:iFB9ABEE1EA73DFEC
GO
Isoform 3 (identifier: Q5VTH9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-254: Missing.
     672-704: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:561
Mass (Da):63,213
Checksum:iBBBD30590E7295AD
GO

Sequence cautioni

Isoform 3 : The sequence BAB15551 differs from that shown. Reason: Frameshift at positions 513 and 765.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05763516G → A1 PublicationCorresponds to variant dbSNP:rs1886686Ensembl.1
Natural variantiVAR_05763633C → W. Corresponds to variant dbSNP:rs3008858Ensembl.1
Natural variantiVAR_057637832R → Q1 PublicationCorresponds to variant dbSNP:rs482082Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0218121 – 254Missing in isoform 3. 1 PublicationAdd BLAST254
Alternative sequenceiVSP_021816528 – 545WPERI…AVDFS → VTQTRIRSIFIWLLTKFS in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_021817546 – 848Missing in isoform 2. 1 PublicationAdd BLAST303
Alternative sequenceiVSP_021815672 – 704Missing in isoform 3. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK026782 mRNA Translation: BAB15551.1 Frameshift.
AK292830 mRNA Translation: BAF85519.1
AL139216 Genomic DNA No translation available.
AL354978 Genomic DNA No translation available.
AL592161 Genomic DNA No translation available.
BC032406 mRNA Translation: AAH32406.2
AL133617 mRNA Translation: CAB63744.3
CCDSiCCDS44157.1 [Q5VTH9-2]
CCDS635.1 [Q5VTH9-1]
PIRiT43473
RefSeqiNP_079039.4, NM_024763.4 [Q5VTH9-1]
NP_996897.2, NM_207014.2 [Q5VTH9-2]
UniGeneiHs.49421

Genome annotation databases

EnsembliENST00000371023; ENSP00000360062; ENSG00000152763 [Q5VTH9-2]
ENST00000371026; ENSP00000360065; ENSG00000152763 [Q5VTH9-1]
GeneIDi79819
KEGGihsa:79819
UCSCiuc001dcx.5 human [Q5VTH9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiWDR78_HUMAN
AccessioniPrimary (citable) accession number: Q5VTH9
Secondary accession number(s): A8K9W5
, B5MDT3, H7BY80, Q5VTI0, Q8N5G5, Q9H5R9, Q9UF44
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: December 7, 2004
Last modified: June 20, 2018
This is version 130 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 1
    Human chromosome 1: 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

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