Q8NEZ3 (WDR19_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat-containing protein 19

Gene names

Name:	WDR19
Synonyms:	KIAA1638

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1342 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	May be involved in cilia function and/or assembly.
Subcellular location	Cell projection › cilium By similarity. Cytoplasm › cytoskeleton › cilium basal body By similarity. Note: Localizes to photoreceptor connecting cilia, to the base of motile cilia in brain ependymal cells and to the base of and along primary cilia in kidney cells By similarity.
Tissue specificity	Some isoforms are tissue-specific. Highly expressed in the prostate. Lower expression in the cerebellum, pituitary gland, fetal lung, and pancreas. In normal prostate, expressed in both basal and luminal epithelial cells. No expression detected in fibromuscular stromal cells, endothelial cells, or infiltrating lymphocytes. Uniformed expression in prostate adenocarcinoma cells. Ref.1
Developmental stage	Expressed in fetal lung.
Induction	By androgenic hormones. Expression increased 3-fold in an androgen-stimulated androgen-sensitive prostate adenocarcinoma cell line compared with androgen-deprived cells. Ref.1
Sequence similarities	Contains 6 TPR repeats. Contains 6 WD repeats.
Sequence caution	The sequence AAH32578.1 differs from that shown. Reason: Frameshift at position 421.

Ontologies

Keywords
Biological process	Cilium biogenesis/degradation
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat TPR repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	cell projection organization Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	microtubule basal body Inferred from electronic annotation. Source: UniProtKB-SubCell motile cilium Inferred from sequence or structural similarity. Source: UniProtKB photoreceptor connecting cilium Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NEZ3-1)

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: Q8NEZ3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     453-474: IESEILDAQEERETRLFPAVDD → KAKSWMLTKNVRLGFSQQWMISAVSYAMP
     475-1342: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1342	1342	WD repeat-containing protein 19		PRO_0000233156
Regions
	Repeat	11 – 51	41	WD 1
	Repeat	52 – 92	41	WD 2
	Repeat	95 – 134	40	WD 3
	Repeat	137 – 175	39	WD 4
	Repeat	273 – 311	39	WD 5
	Repeat	317 – 356	40	WD 6
	Repeat	736 – 769	34	TPR 1
	Repeat	775 – 808	34	TPR 2
	Repeat	840 – 873	34	TPR 3
	Repeat	895 – 928	34	TPR 4
	Repeat	951 – 984	34	TPR 5
	Repeat	1020 – 1053	34	TPR 6
Natural variations
	Alternative sequence	453 – 474	22	IESEI…PAVDD → KAKSWMLTKNVRLGFSQQWM ISAVSYAMP in isoform 2.		VSP_018073
	Alternative sequence	475 – 1342	868	Missing in isoform 2.		VSP_018074
	Natural variant	1084	1	G → S. Corresponds to variant rs16995209 [ dbSNP | Ensembl ].		VAR_053424
Experimental info
	Sequence conflict	22	1	Q → K in AAK38745. Ref.1
	Sequence conflict	122	1	L → V in BAB15550. Ref.2
	Sequence conflict	153	1	L → P in BAB15550. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 2, 2006. Version 2. Checksum: FF3DD302231CB5F6	FASTA	1,342	151,581
	10 20 30 40 50 60 MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE INLPGNCVAM 70 80 90 100 110 120 DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM SFLLWSKVGS FLAVGTVKGN 130 140 150 160 170 180 LLIYNHQTSR KIPVLGKHTK RITCGCWNAE NLLALGGEDK MITVSNQEGD TIRQTQVRSE 190 200 210 220 230 240 PSNMQFFLMK MDDRTSAAES MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY 250 260 270 280 290 300 GDGRIMIGFS CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI 310 320 330 340 350 360 QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL PILGDACSTR 370 380 390 400 410 420 IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL AVGMNNRAWF YVLGENAVKK 430 440 450 460 470 480 LKDMEYLGTV ASICLHSDYA AALFEGKVQL HLIESEILDA QEERETRLFP AVDDKCRILC 490 500 510 520 530 540 HALTSDFLIY GTDTGVVQYF YIEDWQFVND YRHPVSVKKI FPDPNGTRLV FIDEKSDGFV 550 560 570 580 590 600 YCPVNDATYE IPDFSPTIKG VLWENWPMDK GVFIAYDDDK VYTYVFHKDT IQGAKVILAG 610 620 630 640 650 660 STKVPFAHKP LLLYNGELTC QTQSGKVNNI YLSTHGFLSN LKDTGPDELR PMLAQNLMLK 670 680 690 700 710 720 RFSDAWEMCR ILNDEAAWNE LARACLHHME VEFAIRVYRR IGNVGIVMSL EQIKGIEDYN 730 740 750 760 770 780 LLAGHLAMFT NDYNLAQDLY LASSCPIAAL EMRRDLQHWD SALQLAKHLA PDQIPFISKE 790 800 810 820 830 840 YAIQLEFAGD YVNALAHYEK GITGDNKEHD EACLAGVAQM SIRMGDIRRG VNQALKHPSR 850 860 870 880 890 900 VLKRDCGAIL ENMKQFSEAA QLYEKGLYYD KAASVYIRSK NWAKVGDLLP HVSSPKIHLQ 910 920 930 940 950 960 YAKAKEADGR YKEAVVAYEN AKQWQSVIRI YLDHLNNPEK AVNIVRETQS LDGAKMVARF 970 980 990 1000 1010 1020 FLQLGDYGSA IQFLVMSKCN NEAFTLAQQH NKMEIYADII GSEDTTNEDY QSIALYFEGE 1030 1040 1050 1060 1070 1080 KRYLQAGKFF LLCGQYSRAL KHFLKCPSSE DNVAIEMAIE TVGQAKDELL TNQLIDHLLG 1090 1100 1110 1120 1130 1140 ENDGMPKDAK YLFRLYMALK QYREAAQTAI IIAREEQSAG NYRNAHDVLF SMYAELKSQK 1150 1160 1170 1180 1190 1200 IKIPSEMATN LMILHSYILV KIHVKNGDHM KGARMLIRVA NNISKFPSHI VPILTSTVIE 1210 1220 1230 1240 1250 1260 CHRAGLKNSA FSFAAMLMRP EYRSKIDAKY KKKIEGMVRR PDISEIEEAT TPCPFCKFLL 1270 1280 1290 1300 1310 1320 PECELLCPGC KNSIPYCIAT GRHMLKDDWT VCPHCDFPAL YSELKIMLNT ESTCPMCSER 1330 1340 LNAAQLKKIS DCTQYLRTEE EL
	Isoform 2 [UniParc]. Checksum: 5258635611B2B67A	FASTA	481	53,573
	10 20 30 40 50 60 MKRIFSLLEK TWLGAPIQFA WQKTSGNYLA VTGADYIVKI FDRHGQKRSE INLPGNCVAM 70 80 90 100 110 120 DWDKDGDVLA VIAEKSSCIY LWDANTNKTS QLDNGMRDQM SFLLWSKVGS FLAVGTVKGN 130 140 150 160 170 180 LLIYNHQTSR KIPVLGKHTK RITCGCWNAE NLLALGGEDK MITVSNQEGD TIRQTQVRSE 190 200 210 220 230 240 PSNMQFFLMK MDDRTSAAES MISVVLGKKT LFFLNLNEPD NPADLEFQQD FGNIVCYNWY 250 260 270 280 290 300 GDGRIMIGFS CGHFVVISTH TGELGQEIFQ ARNHKDNLTS IAVSQTLNKV ATCGDNCIKI 310 320 330 340 350 360 QDLVDLKDMY VILNLDEENK GLGTLSWTDD GQLLALSTQR GSLHVFLTKL PILGDACSTR 370 380 390 400 410 420 IAYLTSLLEV TVANPVEGEL PITVSVDVEP NFVAVGLYHL AVGMNNRAWF YVLGENAVKK 430 440 450 460 470 480 LKDMEYLGTV ASICLHSDYA AALFEGKVQL HLKAKSWMLT KNVRLGFSQQ WMISAVSYAM P

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and characterization of human and mouse WDR19,a novel WD-repeat protein exhibiting androgen-regulated expression in prostate epithelium." Lin B., White J.T., Utleg A.G., Wang S., Ferguson C., True L.D., Vessella R., Hood L., Nelson P.S. Genomics 82:331-342(2003) [PubMed: 12906858] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, TISSUE SPECIFICITY, INDUCTION.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Lung.
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Eye.
[6]	"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed: 10997877] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 335-1239. Tissue: Brain.
[7]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY029257 mRNA. Translation: AAK38745.1. AK026780 mRNA. Translation: BAB15550.1. AC093855 Genomic DNA. No translation available. CH471069 Genomic DNA. Translation: EAW92921.1. BC032578 mRNA. Translation: AAH32578.1. Frameshift. AB046858 mRNA. Translation: BAB13464.1.
IPI	IPI00396243. IPI00743099.
RefSeq	NP_079408.3. NM_025132.3.
UniGene	Hs.438482.
3D structure databases
ProteinModelPortal	Q8NEZ3.
SMR	Q8NEZ3. Positions 136-177, 485-511, 894-921.
ModBase	Search...
Protein-protein interaction databases
STRING	Q8NEZ3.
PTM databases
PhosphoSite	Q8NEZ3.
Polymorphism databases
DMDM	94730676.
Proteomic databases
PRIDE	Q8NEZ3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000399820; ENSP00000382717; ENSG00000157796.
GeneID	57728.
KEGG	hsa:57728.
UCSC	uc003gtu.1. human. uc003gtv.1. human.
Organism-specific databases
CTD	57728.
GeneCards	GC04P039184.
H-InvDB	HIX0004161.
HGNC	HGNC:18340. WDR19.
HPA	HPA039616.
MIM	608151. gene.
neXtProt	NX_Q8NEZ3.
PharmGKB	PA38317.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG17350.
GeneTree	ENSGT00590000083165.
HOGENOM	HBG315239.
HOVERGEN	HBG094157.
InParanoid	Q8NEZ3.
OMA	DWQFVND.
OrthoDB	EOG4JQ3WP.
PhylomeDB	Q8NEZ3.
Gene expression databases
ArrayExpress	Q8NEZ3.
Bgee	Q8NEZ3.
CleanEx	HS_WDR19.
Genevestigator	Q8NEZ3.
GermOnline	ENSG00000157796. Homo sapiens.
Family and domain databases
InterPro	IPR011990. TPR-like_helical. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR017986. WD40_repeat_dom. [Graphical view]
Gene3D	G3DSA:1.25.40.10. TPR-like_helical. 1 hit. G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 3 hits.
Pfam	PF00400. WD40. 2 hits. [Graphical view]
SMART	SM00320. WD40. 5 hits. [Graphical view]
SUPFAM	SSF50978. WD40_like. 2 hits.
PROSITE	PS50005. TPR. False negative. PS50293. TPR_REGION. False negative. PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. False negative. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	64676.
SOURCE	Search...

Entry information

Entry name

WDR19_HUMAN

Accession

Primary (citable) accession number: Q8NEZ3
Secondary accession number(s): B5MEF2 , Q8N5B4, Q9H5S0, Q9HCD4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 2, 2006
Last sequence update:	May 2, 2006
Last modified:	January 25, 2012
This is version 79 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.