Q9Y484 (WIPI4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
WD repeat domain phosphoinositide-interacting protein 4
Short name=WIPI-4

Alternative name(s):
WD repeat-containing protein 45

Gene names

Name:	WDR45
Synonyms:	WDRX1, WDRXI4, WIPI4
ORF Names:	JM5

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	360 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Tissue specificity	Ubiquitously expressed, with high expression in skeletal muscle and heart. Weakly expressed in liver and placenta. Expression is down-regulated in pancreatic and in kidney tumors. Ref.1
Sequence similarities	Belongs to the WD repeat SVP1 family. Contains 3 WD repeats.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	autophagy Inferred from Biological aspect of Ancestor. Source: RefGenome response to starvation Inferred from Biological aspect of Ancestor. Source: RefGenome
Cellular component	organelle membrane Inferred from Biological aspect of Ancestor. Source: RefGenome
Molecular function	phosphatidylinositol-3,5-bisphosphate binding Inferred from Biological aspect of Ancestor. Source: RefGenome
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y484-1)

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: Q9Y484-2)

The sequence of this isoform differs from the canonical sequence as follows:
     145-145: K → KAAHPTPHLHTL

Note: No experimental confirmation available.

Isoform 3 (identifier: Q9Y484-3)

The sequence of this isoform differs from the canonical sequence as follows:
     78-78: S → SA

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 360	360	WD repeat domain phosphoinositide-interacting protein 4		PRO_0000051452
Regions
	Repeat	4 – 42	39	WD 1
	Repeat	190 – 230	41	WD 2
	Repeat	235 – 274	40	WD 3
Natural variations
	Alternative sequence	78	1	S → SA in isoform 3.		VSP_016975
	Alternative sequence	145	1	K → KAAHPTPHLHTL in isoform 2.		VSP_016976
Experimental info
	Sequence conflict	217	1	I → T in CAG33006. Ref.3
	Sequence conflict	300 – 302	3	FTV → YTA in AAV80764. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: E1A6746277182AF9	FASTA	360	39,868
	10 20 30 40 50 60 MTQQPLRGVT SLRFNQDQSC FCCAMETGVR IYNVEPLMEK GHLDHEQVGS MGLVEMLHRS 70 80 90 100 110 120 NLLALVGGGS SPKFSEISVL IWDDAREGKD SKEKLVLEFT FTKPVLSVRM RHDKIVIVLK 130 140 150 160 170 180 NRIYVYSFPD NPRKLFEFDT RDNPKGLCDL CPSLEKQLLV FPGHKCGSLQ LVDLASTKPG 190 200 210 220 230 240 TSSAPFTINA HQSDIACVSL NQPGTVVASA SQKGTLIRLF DTQSKEKLVE LRRGTDPATL 250 260 270 280 290 300 YCINFSHDSS FLCASSDKGT VHIFALKDTR LNRRSALARV GKVGPMIGQY VDSQWSLASF 310 320 330 340 350 360 TVPAESACIC AFGRNTSKNV NSVIAICVDG TFHKYVFTPD GNCNREAFDV YLDICDDDDF
	Isoform 2 [UniParc]. Checksum: 2837B845913E4BD1	FASTA	371	41,044
	10 20 30 40 50 60 MTQQPLRGVT SLRFNQDQSC FCCAMETGVR IYNVEPLMEK GHLDHEQVGS MGLVEMLHRS 70 80 90 100 110 120 NLLALVGGGS SPKFSEISVL IWDDAREGKD SKEKLVLEFT FTKPVLSVRM RHDKIVIVLK 130 140 150 160 170 180 NRIYVYSFPD NPRKLFEFDT RDNPKAAHPT PHLHTLGLCD LCPSLEKQLL VFPGHKCGSL 190 200 210 220 230 240 QLVDLASTKP GTSSAPFTIN AHQSDIACVS LNQPGTVVAS ASQKGTLIRL FDTQSKEKLV 250 260 270 280 290 300 ELRRGTDPAT LYCINFSHDS SFLCASSDKG TVHIFALKDT RLNRRSALAR VGKVGPMIGQ 310 320 330 340 350 360 YVDSQWSLAS FTVPAESACI CAFGRNTSKN VNSVIAICVD GTFHKYVFTP DGNCNREAFD 370 VYLDICDDDD F
	Isoform 3 [UniParc]. Checksum: 780640AF2B1D2A63	FASTA	361	39,939
	10 20 30 40 50 60 MTQQPLRGVT SLRFNQDQSC FCCAMETGVR IYNVEPLMEK GHLDHEQVGS MGLVEMLHRS 70 80 90 100 110 120 NLLALVGGGS SPKFSEISAV LIWDDAREGK DSKEKLVLEF TFTKPVLSVR MRHDKIVIVL 130 140 150 160 170 180 KNRIYVYSFP DNPRKLFEFD TRDNPKGLCD LCPSLEKQLL VFPGHKCGSL QLVDLASTKP 190 200 210 220 230 240 GTSSAPFTIN AHQSDIACVS LNQPGTVVAS ASQKGTLIRL FDTQSKEKLV ELRRGTDPAT 250 260 270 280 290 300 LYCINFSHDS SFLCASSDKG TVHIFALKDT RLNRRSALAR VGKVGPMIGQ YVDSQWSLAS 310 320 330 340 350 360 FTVPAESACI CAFGRNTSKN VNSVIAICVD GTFHKYVFTP DGNCNREAFD VYLDICDDDD F

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"WIPI-1alpha (WIPI49), a member of the novel 7-bladed WIPI protein family, is aberrantly expressed in human cancer and is linked to starvation-induced autophagy." Proikas-Cezanne T., Waddell S., Gaugel A., Frickey T., Lupas A., Nordheim A. Oncogene 23:9314-9325(2004) [PubMed: 15602573] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Testis.
[2]	"Transcription map in Xp11.23." Strom T.M., Nyakatura G., Hellebrand H., Drescher B., Rosenthal A., Meindl A. Submitted (APR-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[3]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[4]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed: 15772651] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	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].
[6]	"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] (ISOFORMS 1 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 69-360 (ISOFORM 2). Tissue: Brain and Lung.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY691428 mRNA. Translation: AAV80764.1. AJ005897 mRNA. Translation: CAA06754.1. CR456725 mRNA. Translation: CAG33006.1. AF196779 Genomic DNA. No translation available. CH471224 Genomic DNA. Translation: EAW50697.1. CH471224 Genomic DNA. Translation: EAW50702.1. BC000464 mRNA. Translation: AAH00464.1. BC003037 mRNA. Translation: AAH03037.1. BC009027 mRNA. Translation: AAH09027.1. BC069206 mRNA. Translation: AAH69206.1.
IPI	IPI00026634. IPI00642665. IPI00647947.
RefSeq	NP_001025067.1. NM_001029896.1. NP_009006.2. NM_007075.3.
UniGene	Hs.632807.
3D structure databases
ProteinModelPortal	Q9Y484.
SMR	Q9Y484. Positions 7-37, 184-273, 323-348.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y484. 7 interactions.
Polymorphism databases
DMDM	74762056.
Proteomic databases
PRIDE	Q9Y484.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000376372; ENSP00000365551; ENSG00000196998.
GeneID	11152.
KEGG	hsa:11152.
UCSC	uc004dmj.1. human. uc004dmk.1. human. uc004dml.1. human.
Organism-specific databases
CTD	11152.
GeneCards	GC0XM048929.
HGNC	HGNC:28912. WDR45.
HPA	HPA027562.
MIM	300526. gene.
neXtProt	NX_Q9Y484.
PharmGKB	PA134927673.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG05704.
GeneTree	ENSGT00530000062939.
HOVERGEN	HBG053275.
OMA	ECACICA.
OrthoDB	EOG4JT05N.
PhylomeDB	Q9Y484.
Gene expression databases
ArrayExpress	Q9Y484.
Bgee	Q9Y484.
CleanEx	HS_WDR45.
Genevestigator	Q9Y484.
GermOnline	ENSG00000196998. Homo sapiens.
Family and domain databases
InterPro	IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR011046. WD40_repeat-like_dom. [Graphical view]
Gene3D	G3DSA:2.130.10.10. WD40/YVTN_repeat-like. 1 hit.
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. False negative. PS50294. WD_REPEATS_REGION. False negative. [Graphical view]
ProtoNet	Search...
Other
NextBio	42400.
SOURCE	Search...

Entry information

Entry name

WIPI4_HUMAN

Accession

Primary (citable) accession number: Q9Y484
Secondary accession number(s): A6NGH5 , B7WPI2, Q5MNZ5, Q6IBS7, Q6NT94, Q96H03

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 10, 2006
Last sequence update:	November 1, 1999
Last modified:	January 25, 2012
This is version 87 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.