Q8TBZ3 (WDR20_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat-containing protein 20

Alternative name(s):
Protein DMR

Gene names

Name:

WDR20

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	569 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Sequence similarities	Contains 5 WD repeats.
Sequence caution	The sequence AAL56014.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat WD repeat
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8TBZ3-1)

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.

Isoform 2 (identifier: Q8TBZ3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     565-569: VSFNP → GSLSSPSQASSPGGTVV

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8TBZ3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     145-195: RLIDKSRVTC...TAPHYQLLKQ → NSCQHLWKVD...RMQGVLQDQN
     196-569: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q8TBZ3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-9: Missing.
     84-144: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 569	569	WD repeat-containing protein 20		PRO_0000051366
Regions
	Repeat	147 – 187	41	WD 1
	Repeat	218 – 257	40	WD 2
	Repeat	260 – 299	40	WD 3
	Repeat	347 – 391	45	WD 4
	Repeat	531 – 568	38	WD 5
Amino acid modifications
	Modified residue	432	1	Phosphoserine Ref.6 Ref.9
	Modified residue	434	1	Phosphoserine Ref.6 Ref.7
Natural variations
	Alternative sequence	1 – 9	9	Missing in isoform 4.		VSP_045225
	Alternative sequence	84 – 144	61	Missing in isoform 4.		VSP_045226
	Alternative sequence	145 – 195	51	RLIDK…QLLKQ → NSCQHLWKVDWNEERQNEGS KTSEEALVTVQPAEHFCRQE DRMQGVLQDQN in isoform 3.		VSP_043412
	Alternative sequence	196 – 569	374	Missing in isoform 3.		VSP_043413
	Alternative sequence	565 – 569	5	VSFNP → GSLSSPSQASSPGGTVV in isoform 2.		VSP_024387
	Natural variant	159	1	P → H. Ref.3 Corresponds to variant rs17852545 [ dbSNP | Ensembl ].		VAR_031580
	Natural variant	444	1	G → C. Corresponds to variant rs12888595 [ dbSNP | Ensembl ].		VAR_053425
Experimental info
	Sequence conflict	195	1	Q → H in AAL56014. Ref.4
	Sequence conflict	299	1	R → K in AAL56014. Ref.4
	Sequence conflict	474	1	H → L in CAB63713. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 3, 2007. Version 2. Checksum: 5779A68D94C34CAF	FASTA	569	62,893
	10 20 30 40 50 60 MATEGGGKEM NEIKTQFTTR EGLYKLLPHS EYSRPNRVPF NSQGSNPVRV SFVNLNDQSG 70 80 90 100 110 120 NGDRLCFNVG RELYFYIYKG VRKAADLSKP IDKRIYKGTQ PTCHDFNHLT ATAESVSLLV 130 140 150 160 170 180 GFSAGQVQLI DPIKKETSKL FNEERLIDKS RVTCVKWVPG SESLFLVAHS SGNMYLYNVE 190 200 210 220 230 240 HTCGTTAPHY QLLKQGESFA VHTCKSKSTR NPLLKWTVGE GALNEFAFSP DGKFLACVSQ 250 260 270 280 290 300 DGFLRVFNFD SVELHGTMKS YFGGLLCVCW SPDGKYIVTG GEDDLVTVWS FVDCRVIARG 310 320 330 340 350 360 HGHKSWVSVV AFDPYTTSVE EGDPMEFSGS DEDFQDLLHF GRDRANSTQS RLSKRNSTDS 370 380 390 400 410 420 RPVSVTYRFG SVGQDTQLCL WDLTEDILFP HQPLSRARTH TNVMNATSPP AGSNGNSVTT 430 440 450 460 470 480 PGNSVPPPLP RSNSLPHSAV SNAGSKSSVM DGAIASGVSK FATLSLHDRK ERHHEKDHKR 490 500 510 520 530 540 NHSMGHISSK SSDKLNLVTK TKTDPAKTLG TPLCPRMEDV PLLEPLICKK IAHERLTVLI 550 560 FLEDCIVTAC QEGFICTWGR PGKVVSFNP
	Isoform 2 [UniParc]. Checksum: BBCBE3C8CBEF8F75	FASTA	581	63,848
	10 20 30 40 50 60 MATEGGGKEM NEIKTQFTTR EGLYKLLPHS EYSRPNRVPF NSQGSNPVRV SFVNLNDQSG 70 80 90 100 110 120 NGDRLCFNVG RELYFYIYKG VRKAADLSKP IDKRIYKGTQ PTCHDFNHLT ATAESVSLLV 130 140 150 160 170 180 GFSAGQVQLI DPIKKETSKL FNEERLIDKS RVTCVKWVPG SESLFLVAHS SGNMYLYNVE 190 200 210 220 230 240 HTCGTTAPHY QLLKQGESFA VHTCKSKSTR NPLLKWTVGE GALNEFAFSP DGKFLACVSQ 250 260 270 280 290 300 DGFLRVFNFD SVELHGTMKS YFGGLLCVCW SPDGKYIVTG GEDDLVTVWS FVDCRVIARG 310 320 330 340 350 360 HGHKSWVSVV AFDPYTTSVE EGDPMEFSGS DEDFQDLLHF GRDRANSTQS RLSKRNSTDS 370 380 390 400 410 420 RPVSVTYRFG SVGQDTQLCL WDLTEDILFP HQPLSRARTH TNVMNATSPP AGSNGNSVTT 430 440 450 460 470 480 PGNSVPPPLP RSNSLPHSAV SNAGSKSSVM DGAIASGVSK FATLSLHDRK ERHHEKDHKR 490 500 510 520 530 540 NHSMGHISSK SSDKLNLVTK TKTDPAKTLG TPLCPRMEDV PLLEPLICKK IAHERLTVLI 550 560 570 580 FLEDCIVTAC QEGFICTWGR PGKVGSLSSP SQASSPGGTV V
	Isoform 3 [UniParc]. Checksum: F21E71C2C629E6CB	FASTA	195	22,205
	10 20 30 40 50 60 MATEGGGKEM NEIKTQFTTR EGLYKLLPHS EYSRPNRVPF NSQGSNPVRV SFVNLNDQSG 70 80 90 100 110 120 NGDRLCFNVG RELYFYIYKG VRKAADLSKP IDKRIYKGTQ PTCHDFNHLT ATAESVSLLV 130 140 150 160 170 180 GFSAGQVQLI DPIKKETSKL FNEENSCQHL WKVDWNEERQ NEGSKTSEEA LVTVQPAEHF 190 CRQEDRMQGV LQDQN
	Isoform 4 [UniParc]. Checksum: A8E7A7927C37544A	FASTA	499	55,348
	10 20 30 40 50 60 MNEIKTQFTT REGLYKLLPH SEYSRPNRVP FNSQGSNPVR VSFVNLNDQS GNGDRLCFNV 70 80 90 100 110 120 GRELYFYIYK GVRKRLIDKS RVTCVKWVPG SESLFLVAHS SGNMYLYNVE HTCGTTAPHY 130 140 150 160 170 180 QLLKQGESFA VHTCKSKSTR NPLLKWTVGE GALNEFAFSP DGKFLACVSQ DGFLRVFNFD 190 200 210 220 230 240 SVELHGTMKS YFGGLLCVCW SPDGKYIVTG GEDDLVTVWS FVDCRVIARG HGHKSWVSVV 250 260 270 280 290 300 AFDPYTTSVE EGDPMEFSGS DEDFQDLLHF GRDRANSTQS RLSKRNSTDS RPVSVTYRFG 310 320 330 340 350 360 SVGQDTQLCL WDLTEDILFP HQPLSRARTH TNVMNATSPP AGSNGNSVTT PGNSVPPPLP 370 380 390 400 410 420 RSNSLPHSAV SNAGSKSSVM DGAIASGVSK FATLSLHDRK ERHHEKDHKR NHSMGHISSK 430 440 450 460 470 480 SSDKLNLVTK TKTDPAKTLG TPLCPRMEDV PLLEPLICKK IAHERLTVLI FLEDCIVTAC 490 QEGFICTWGR PGKVVSFNP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Full-length cDNA libraries and normalization." Li W.B., Gruber C., Jessee J., Polayes D. Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Neuroblastoma.
[2]	"The DNA sequence and analysis of human chromosome 14." Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H. , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J. Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT HIS-159. Tissue: Testis.
[4]	Li N., Chen T., Wan T., Zhang W., Cao X. Submitted (DEC-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-569 (ISOFORM 2).
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 232-569 (ISOFORM 1). Tissue: Testis.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432 AND SER-434, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-434, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[8]	"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[9]	"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation." Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B. Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-432, MASS SPECTROMETRY.

Cross-references

Sequence databases
EMBL GenBank DDBJ	BX248274 mRNA. Translation: CAD62602.1. AL133223 Genomic DNA. No translation available. AL359402 Genomic DNA. No translation available. BC028387 mRNA. Translation: AAH28387.1. BC030654 mRNA. Translation: AAH30654.1. AF327354 mRNA. Translation: AAL56014.1. Different initiation. AL133558 mRNA. Translation: CAB63713.1.
IPI	IPI00168408. IPI00290950. IPI00844142. IPI01026150.
PIR	T43440.
RefSeq	NP_001229343.1. NM_001242414.1. NP_001229344.1. NM_001242415.1. NP_001229345.1. NM_001242416.1. NP_001229346.1. NM_001242417.1. NP_001229347.1. NM_001242418.1. NP_653175.2. NM_144574.3. NP_851808.1. NM_181291.2. NP_851825.1. NM_181308.2.
UniGene	Hs.36859.
3D structure databases
ProteinModelPortal	Q8TBZ3.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8TBZ3. 16 interactions.
STRING	9606.ENSP00000335434.
PTM databases
PhosphoSite	Q8TBZ3.
Polymorphism databases
DMDM	143811476.
Proteomic databases
PaxDb	Q8TBZ3.
PRIDE	Q8TBZ3.
Protocols and materials databases
DNASU	91833.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000322340; ENSP00000314209; ENSG00000140153. ENST00000335263; ENSP00000335434; ENSG00000140153. ENST00000342702; ENSP00000341037; ENSG00000140153.
GeneID	91833.
KEGG	hsa:91833.
UCSC	uc001yky.2. human. uc001yld.3. human.
Organism-specific databases
CTD	91833.
GeneCards	GC14P102606.
HGNC	HGNC:19667. WDR20.
HPA	HPA007720.
neXtProt	NX_Q8TBZ3.
PharmGKB	PA134936678.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000148775.
HOVERGEN	HBG011270.
Gene expression databases
ArrayExpress	Q8TBZ3.
Bgee	Q8TBZ3.
CleanEx	HS_WDR20.
Genevestigator	Q8TBZ3.
GermOnline	ENSG00000140153. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 3 hits.
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF00400. WD40. 2 hits. [Graphical view]
SMART	SM00320. WD40. 4 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 1 hit. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	91833.
NextBio	77478.

Entry information

Entry name

WDR20_HUMAN

Accession

Primary (citable) accession number: Q8TBZ3
Secondary accession number(s): H0YJJ1 , Q86TU2, Q8NCN7, Q8WXX2, Q9UF86

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 12, 2003
Last sequence update:	April 3, 2007
Last modified:	May 1, 2013
This is version 97 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.