Q8NI36 (WDR36_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat-containing protein 36

Alternative name(s):
T-cell activation WD repeat-containing protein
Short name=TA-WDRP

Gene names

Name:

WDR36

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	951 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in T cell activation and highly co-regulated with IL2.
Tissue specificity	Expressed in heart, placenta, liver, skeletal muscle, kidney and pancreas. In ocular tissues, strong expression in iris, sclera, ciliary muscle, ciliary body, retina and optic nerve. Ref.4
Involvement in disease	Defects in WDR36 are the cause of primary open angle glaucoma type 1G (GLC1G) [MIM:609887]. Primary open angle glaucoma (POAG) is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. The disease is asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. Ref.4
Sequence similarities	Contains 9 WD repeats.
Sequence caution	The sequence BAC04527.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Coding sequence diversity	Polymorphism
Disease	Disease mutation Glaucoma
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	rRNA processing Inferred from electronic annotation. Source: InterPro response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	small-subunit processome Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 951	951	WD repeat-containing protein 36		PRO_0000051386
Regions
	Repeat	160 – 197	38	WD 1
	Repeat	201 – 242	42	WD 2
	Repeat	287 – 327	41	WD 3
	Repeat	331 – 370	40	WD 4
	Repeat	377 – 417	41	WD 5
	Repeat	492 – 531	40	WD 6
	Repeat	537 – 576	40	WD 7
	Repeat	620 – 661	42	WD 8
	Repeat	663 – 701	39	WD 9
Natural variations
	Natural variant	25	1	L → P Possible disease-susceptibility mutation. Ref.4		VAR_025963
	Natural variant	163	1	A → V Possible disease-susceptibility mutation. Ref.4		VAR_025964
	Natural variant	216	1	Y → P Possible disease-susceptibility mutation; requires 2 nucleotide substitutions. Ref.4		VAR_025965
	Natural variant	264	1	I → V. Ref.3 Ref.4 Corresponds to variant rs11241095 [ dbSNP | Ensembl ].		VAR_024700
	Natural variant	355	1	N → S in GLC1G. Ref.4		VAR_025966
	Natural variant	449	1	A → T in GLC1G. Ref.4 Corresponds to variant rs35703638 [ dbSNP | Ensembl ].		VAR_025967
	Natural variant	454	1	E → Q. Corresponds to variant rs17623803 [ dbSNP | Ensembl ].		VAR_053430
	Natural variant	529	1	R → Q in GLC1G. Ref.4		VAR_025968
	Natural variant	658	1	D → G in GLC1G. Ref.4 Corresponds to variant rs34595252 [ dbSNP | Ensembl ].		VAR_025969
	Natural variant	671	1	M → V. Ref.4 Corresponds to variant rs11956837 [ dbSNP | Ensembl ].		VAR_025970

Sequences

	Sequence		Length	Mass (Da)
	Q8NI36 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 7C65FCB65BE91951	FASTA	951	105,322
	10 20 30 40 50 60 MCCTEGSLRK RDSQRAPEAV LCLQLWQRTV PLDTLKGLGT CFPSGPELRG AGIAAAMERA 70 80 90 100 110 120 SERRTASALF AGFRALGLFS NDIPHVVRFS ALKRRFYVTT CVGKSFHTYD VQKLSLVAVS 130 140 150 160 170 180 NSVPQDICCM AADGRLVFAA YGNVFSAFAR NKEIVHTFKG HKAEIHFLQP FGDHIISVDT 190 200 210 220 230 240 DGILIIWHIY SEEEYLQLTF DKSVFKISAI LHPSTYLNKI LLGSEQGSLQ LWNVKSNKLL 250 260 270 280 290 300 YTFPGWKVGV TALQQAPAVD VVAIGLMSGQ VIIHNIKFNE TLMKFRQDWG PITSISFRTD 310 320 330 340 350 360 GHPVMAAGSP CGHIGLWDLE DKKLINQMRN AHSTAIAGLT FLHREPLLVT NGADNALRIW 370 380 390 400 410 420 IFDGPTGEGR LLRFRMGHSA PLTNIRYYGQ NGQQILSASQ DGTLQSFSTV HEKFNKSLGH 430 440 450 460 470 480 GLINKKRVKR KGLQNTMSVR LPPITKFAAE EARESDWDGI IACHQGKLSC STWNYQKSTI 490 500 510 520 530 540 GAYFLKPKEL KKDDITATAV DITSCGNFAV IGLSSGTVDV YNMQSGIHRG SFGKDQAHKG 550 560 570 580 590 600 SVRGVAVDGL NQLTVTTGSE GLLKFWNFKN KILIHSVSLS SSPNIMLLHR DSGILGLALD 610 620 630 640 650 660 DFSISVLDIE TRKIVREFSG HQGQINDMAF SPDGRWLISA AMDCSIRTWD LPSGCLIDCF 670 680 690 700 710 720 LLDSAPLNVS MSPTGDFLAT SHVDHLGIYL WSNISLYSVV SLRPLPADYV PSIVMLPGTC 730 740 750 760 770 780 QTQDVEVSEE TVEPSDELIE YDSPEQLNEQ LVTLSLLPES RWKNLLNLDV IKKKNKPKEP 790 800 810 820 830 840 PKVPKSAPFF IPTIPGLVPR YAAPEQNNDP QQSKVVNLGV LAQKSDFCLK LEEGLVNNKY 850 860 870 880 890 900 DTALNLLKES GPSGIETELR SLSPDCGGSI EVMQSFLKMI GMMLDRKRDF ELAQAYLALF 910 920 930 940 950 LKLHLKMLPS EPVLLEEITN LSSQVEENWT HLQSLFNQSM CILNYLKSAL L

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"T lymphocyte activation gene identification by coregulated expression on DNA microarrays." Mao M., Biery M.C., Kobayashi S.V., Ward T., Schimmack G., Burchard J., Schelter J.M., Dai H., He Y.D., Linsley P.S. Genomics 83:989-999(2004) [PubMed: 15177553] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"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].
[3]	"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] OF 10-951, VARIANT VAL-264. Tissue: Tongue.
[4]	"Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1." Monemi S., Spaeth G., DaSilva A., Popinchalk S., Ilitchev E., Liebmann J., Ritch R., Heon E., Crick R.P., Child A., Sarfarazi M. Hum. Mol. Genet. 14:725-733(2005) [PubMed: 15677485] [Abstract] Cited for: VARIANTS GLC1G SER-355; THR-449; GLN-529 AND GLY-658, VARIANTS PRO-25; VAL-163; PRO-216; VAL-264 AND VAL-671, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF385437 mRNA. Translation: AAM43838.1. BC133025 mRNA. Translation: AAI33026.1. BC136517 mRNA. Translation: AAI36518.1. AK095312 mRNA. Translation: BAC04527.1. Different initiation.
IPI	IPI00169325.
RefSeq	NP_644810.1. NM_139281.2.
UniGene	Hs.533237.
3D structure databases
ProteinModelPortal	Q8NI36.
SMR	Q8NI36. Positions 158-190, 207-409, 506-533, 573-694.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NI36. 5 interactions.
STRING	Q8NI36.
Polymorphism databases
DMDM	46577504.
Proteomic databases
PeptideAtlas	Q8NI36.
PRIDE	Q8NI36.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000323652; ENSP00000319771; ENSG00000134987.
GeneID	134430.
KEGG	hsa:134430.
UCSC	uc003kpd.1. human.
Organism-specific databases
CTD	134430.
GeneCards	GC05P110427.
H-InvDB	HIX0005079.
HGNC	HGNC:30696. WDR36.
HPA	HPA037797.
MIM	609669. gene. 609887. phenotype.
neXtProt	NX_Q8NI36.
Orphanet	359. Hereditary glaucoma.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG04229.
GeneTree	ENSGT00390000004976.
HOGENOM	HBG735132.
HOVERGEN	HBG059718.
InParanoid	Q8NI36.
OMA	LQLWNIK.
PhylomeDB	Q8NI36.
Gene expression databases
ArrayExpress	Q8NI36.
Bgee	Q8NI36.
CleanEx	HS_WDR36.
Genevestigator	Q8NI36.
GermOnline	ENSG00000134987. Homo sapiens.
Family and domain databases
InterPro	IPR011047. Quinonprotein_ADH-like. IPR007319. SSU_processome_Utp21. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view]
Gene3D	G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 3 hits.
KO	K14554.
Pfam	PF04192. Utp21. 1 hit. PF00400. WD40. 4 hits. [Graphical view]
SMART	SM00320. WD40. 8 hits. [Graphical view]
SUPFAM	SSF50998. Quin_alc_DH_like. 1 hit. SSF50978. WD40_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 3 hits. PS50294. WD_REPEATS_REGION. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	83377.
SOURCE	Search...

Entry information

Entry name

WDR36_HUMAN

Accession

Primary (citable) accession number: Q8NI36
Secondary accession number(s): A2RUS4, Q8N1Q2

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 26, 2004
Last sequence update:	October 1, 2002
Last modified:	January 25, 2012
This is version 81 of the entry and version 1 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.