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Protein

WD repeat-containing protein 49

Gene

WDR49

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Functioni

Enzyme and pathway databases

SignaLinkiQ8IV35.

Names & Taxonomyi

Protein namesi
Recommended name:
WD repeat-containing protein 49
Gene namesi
Name:WDR49
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000174776.10.
HGNCiHGNC:26587. WDR49.

Pathology & Biotechi

Organism-specific databases

DisGeNETi151790.
OpenTargetsiENSG00000174776.
PharmGKBiPA134949512.

Polymorphism and mutation databases

BioMutaiWDR49.
DMDMi74762474.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002524281 – 697WD repeat-containing protein 49Add BLAST697

Proteomic databases

EPDiQ8IV35.
PaxDbiQ8IV35.
PeptideAtlasiQ8IV35.
PRIDEiQ8IV35.

PTM databases

iPTMnetiQ8IV35.
PhosphoSitePlusiQ8IV35.

Expressioni

Gene expression databases

BgeeiENSG00000174776.
CleanExiHS_WDR49.
ExpressionAtlasiQ8IV35. baseline and differential.
GenevisibleiQ8IV35. HS.

Organism-specific databases

HPAiHPA036225.
HPA036226.

Interactioni

Protein-protein interaction databases

BioGridi127402. 1 interactor.
STRINGi9606.ENSP00000311343.

Structurei

3D structure databases

ProteinModelPortaliQ8IV35.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati17 – 56WD 1Add BLAST40
Repeati60 – 99WD 2Add BLAST40
Repeati146 – 187WD 3Add BLAST42
Repeati190 – 229WD 4Add BLAST40
Repeati281 – 319WD 5Add BLAST39
Repeati367 – 414WD 6Add BLAST48
Repeati417 – 457WD 7Add BLAST41
Repeati473 – 514WD 8Add BLAST42

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiENOG410IE3U. Eukaryota.
ENOG410XTEG. LUCA.
GeneTreeiENSGT00530000063510.
HOGENOMiHOG000154848.
HOVERGENiHBG094159.
InParanoidiQ8IV35.
OMAiSADCSIC.
OrthoDBiEOG091G01RF.
PhylomeDBiQ8IV35.
TreeFamiTF324700.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiView protein in InterPro
IPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
PfamiView protein in Pfam
PF00400. WD40. 2 hits.
PRINTSiPR00320. GPROTEINBRPT.
SMARTiView protein in SMART
SM00320. WD40. 8 hits.
SUPFAMiSSF50978. SSF50978. 4 hits.
PROSITEiView protein in PROSITE
PS00678. WD_REPEATS_1. 3 hits.
PS50082. WD_REPEATS_2. 4 hits.
PS50294. WD_REPEATS_REGION. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8IV35-1) [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
MAWREKSKKR LNMTSFNIAQ GIHAFDYHSR LNLIATAGIN NKVCLWNPYV
60 70 80 90 100
VSKPVGVLWG HSASVIAVQF FVERKQLFSF SKDKVLRLWD IQHQLSIQRI
110 120 130 140 150
ACSFPKSQDF RCLFHFDEAH GRLFISFNNQ LALLAMKSEA SKRVKSHEKA
160 170 180 190 200
VTCVLYNSIL KQVISSDTGS TVSFWMIDTG QKIKQFTGCH GNAEISTMAL
210 220 230 240 250
DANETRLLTG STDGTVKIWD FNGYCHHTLN VGQDGAVDIS QILILKKKIL
260 270 280 290 300
VTGWERAITV FRPQNFNQFF IQPEEWKGGI QHHDDILCAA FLPPQTLVTG
310 320 330 340 350
SYDGEIVLWN NSTENAHHVL HPDYQRLLKS KLDTKPQKLL SAGRSQPSHP
360 370 380 390 400
MADHSTTGVR NFEIDTEGKN AVMRLCFLKA RKNTAVTGGA NLVSCGGSGY
410 420 430 440 450
VRFWDIYKKQ LLAEFLAHSG VGSIIMSTDK MNRYLTTGDL DGWLKIWNIE
460 470 480 490 500
EYCLNSSKNK ITKAPTLIRS FQPHEDRISS LEMCEPGGQL LIISSSADCS
510 520 530 540 550
ICVTGVCNAP VWIFGQAKHW HIENCLFLPK RDTNLVESEI QKEISLFSKE
560 570 580 590 600
ESCLDPTEHS LLNKKNKDDS TYNVRPSEDI NLDIKYKERS TCMKETQKPY
610 620 630 640 650
YGEVIKKSFS TFRSLNIGAL EELPEVNKPA FLLDPEKYFR KEPEEERPQI
660 670 680 690
LEAPSLFKTL KAVFDEKNLF PKEILHHERK AKQLCQEKSC EVKKNKK
Length:697
Mass (Da):79,295
Last modified:March 1, 2003 - v1
Checksum:i26B69950D315FF73
GO
Isoform 2 (identifier: Q8IV35-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-175: Missing.

Note: No experimental confirmation available.
Show »
Length:522
Mass (Da):59,231
Checksum:iC31E7B4E295E81DE
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03588910R → H in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs74903439Ensembl.1
Natural variantiVAR_027858651L → P. Corresponds to variant dbSNP:rs13060964Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0209621 – 175Missing in isoform 2. 1 PublicationAdd BLAST175

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK090939 mRNA. Translation: BAC03552.1.
BC035512 mRNA. Translation: AAH35512.1.
RefSeqiNP_849146.1. NM_178824.3.
UniGeneiHs.213762.

Genome annotation databases

EnsembliENST00000308378; ENSP00000311343; ENSG00000174776. [Q8IV35-1]
GeneIDi151790.
UCSCiuc003feu.2. human. [Q8IV35-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiWDR49_HUMAN
AccessioniPrimary (citable) accession number: Q8IV35
Secondary accession number(s): Q8N297
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 17, 2006
Last sequence update: March 1, 2003
Last modified: September 27, 2017
This is version 115 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 3
    Human chromosome 3: 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