Q8WWY3 (PRP31_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
U4/U6 small nuclear ribonucleoprotein Prp31

Alternative name(s):
Pre-mRNA-processing factor 31
Serologically defined breast cancer antigen NY-BR-99
U4/U6 snRNP 61 kDa protein
Short name=Protein 61K
Short name=hPrp31

Gene names

Name:	PRPF31
Synonyms:	PRP31

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

General annotation (Comments)

Function	Involved in pre-mRNA splicing. Required for the assembly of the U4/U5/U6 tri-snRNP complex, one of the building blocks of the spliceosome. Ref.1
Subunit structure	Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, NHP2L1, EFTUD2, SART1 and USP39. Interacts with a complex formed by NHP2L1 and U4 snRNA, but not with NHP2L1 or U4 snRNA alone. Interacts with PRPF6/U5 snRNP-associated 102 kDa protein. Component of some MLL1/MLL complex, at least composed of the core components MLL, ASH2L, HCFC1/HCF1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10. Interacts (via its NLS) with CTNNBL1. Ref.1 Ref.7 Ref.8 Ref.13 Ref.14
Subcellular location	Nucleus speckle. Nucleus › Cajal body. Note: Predominantly found in speckles and in Cajal bodies. Ref.1 Ref.17
Tissue specificity	Ubiquitously expressed. Ref.16
Domain	Interacts with the snRNP via the Nop domain. Ref.14 The coiled coil domain is formed by two non-contiguous helices. Ref.14
Involvement in disease	Retinitis pigmentosa 11 (RP11) [MIM:600138]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14 Ref.15 Ref.16 Ref.17 Ref.18
Sequence similarities	Belongs to the PRP31 family. Contains 1 Nop domain.

Ontologies

Keywords
Biological process	mRNA processing mRNA splicing
Cellular component	Nucleus Spliceosome
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Retinitis pigmentosa
Domain	Coiled coil
Ligand	RNA-binding
Molecular function	Ribonucleoprotein
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	assembly of spliceosomal tri-snRNP Inferred from mutant phenotype PubMed 15257298. Source: BHF-UCL
Cellular_component	Cajal body Inferred from direct assay Ref.1. Source: MGI MLL1 complex Inferred from direct assay Ref.7. Source: UniProtKB U2-type spliceosomal complex Inferred by curator Ref.14. Source: BHF-UCL U4 snRNP Inferred from direct assay Ref.14. Source: BHF-UCL U4/U6 x U5 tri-snRNP complex Inferred from direct assay Ref.1. Source: MGI U4atac snRNP Traceable author statement Ref.14. Source: BHF-UCL nuclear speck Inferred from direct assay Ref.1. Source: MGI
Molecular_function	RNA binding Inferred from electronic annotation. Source: UniProtKB-KW snRNP binding Inferred from physical interaction Ref.14. Source: BHF-UCL
Complete GO annotation...

Alternative products

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

Isoform 1 (identifier: Q8WWY3-1)

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: Q8WWY3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     333-364: EPPPVKQVKPLPAPLDGQRKKRGGRRYRKMKE → RRRWLRPTRSISPAWLSSSRSRARRVALCPPE
     365-499: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q8WWY3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.
     359-499: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 499

499

U4/U6 small nuclear ribonucleoprotein Prp31

PRO_0000227799

Regions

Domain

215 – 333

119

Nop

Region

351 – 364

14

Nuclear localization signal (NLS)

Coiled coil

85 – 120

36

Ref.14

Coiled coil

181 – 215

35

Ref.14

Compositional bias

16 – 19

4

Poly-Glu

Compositional bias

25 – 29

5

Poly-Glu

Sites

Site

247

1

Interaction with U4 snRNA

Site

270

1

Interaction with U4 snRNA

Amino acid modifications

Modified residue

379

1

Phosphoserine Ref.10

Modified residue

450

1

Phosphoserine Ref.9

Modified residue

455

1

Phosphothreonine Ref.9 Ref.10 Ref.11

Natural variations

Alternative sequence

1 – 80

80

Missing in isoform 3.

VSP_017581

Alternative sequence

333 – 364

32

EPPPV…RKMKE → RRRWLRPTRSISPAWLSSSR SRARRVALCPPE in isoform 2.

VSP_017582

Alternative sequence

359 – 499

141

Missing in isoform 3.

VSP_017583

Alternative sequence

365 – 499

135

Missing in isoform 2.

VSP_017584

Natural variant

111 – 114

4

Missing in RP11; high penetrance.

VAR_025629

Natural variant

194

1

A → E in RP11; mislocation of the protein in the cytoplasm and reduced interaction with PRPF6; the result may be a deficiency in splicing function in the retina. Ref.14 Ref.16 Ref.17

VAR_025630

Natural variant

216

1

A → P in RP11; mislocation of the protein in the cytoplasm, but no effect on interaction with PRPF6; the result may be a deficiency in splicing function in the retina. Ref.14 Ref.15 Ref.16 Ref.17

VAR_025631

Experimental info

Mutagenesis

270

1

H → A or K: Reduces binding to the complex formed by U4 snRNA and NHP2L1. Ref.14

Mutagenesis

351 – 364

14

Missing: Abolishes nuclear localization. Ref.17

Sequence conflict

188

1

E → D in AAK77986. Ref.1

Sequence conflict

235

1

A → G in AAG48270. Ref.2

Sequence conflict

244

1

M → V in CAB43677. Ref.3

Secondary structure

1

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499

Helix Strand Turn

Details...

Helix

89 – 118

30

Turn

119 – 121

3

Helix

125 – 128

4

Helix

132 – 142

11

Helix

146 – 148

3

Helix

149 – 151

3

Helix

155 – 157

3

Helix

161 – 172

12

Helix

181 – 215

35

Helix

217 – 235

19

Helix

238 – 242

5

Helix

246 – 249

4

Turn

250 – 253

4

Turn

273 – 276

4

Helix

278 – 281

4

Helix

285 – 287

3

Helix

288 – 307

20

Helix

315 – 331

17

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 21, 2006. Version 2. Checksum: 7B50EC4C3393795C	FASTA	499	55,456
	10 20 30 40 50 60 MSLADELLAD LEEAAEEEEG GSYGEEEEEP AIEDVQEETQ LDLSGDSVKT IAKLWDSKMF 70 80 90 100 110 120 AEIMMKIEEY ISKQAKASEV MGPVEAAPEY RVIVDANNLT VEIENELNII HKFIRDKYSK 130 140 150 160 170 180 RFPELESLVP NALDYIRTVK ELGNSLDKCK NNENLQQILT NATIMVVSVT ASTTQGQQLS 190 200 210 220 230 240 EEELERLEEA CDMALELNAS KHRIYEYVES RMSFIAPNLS IIIGASTAAK IMGVAGGLTN 250 260 270 280 290 300 LSKMPACNIM LLGAQRKTLS GFSSTSVLPH TGYIYHSDIV QSLPPDLRRK AARLVAAKCT 310 320 330 340 350 360 LAARVDSFHE STEGKVGYEL KDEIERKFDK WQEPPPVKQV KPLPAPLDGQ RKKRGGRRYR 370 380 390 400 410 420 KMKERLGLTE IRKQANRMSF GEIEEDAYQE DLGFSLGHLG KSGSGRVRQT QVNEATKARI 430 440 450 460 470 480 SKTLQRTLQK QSVVYGGKST IRDRSSGTAS SVAFTPLQGL EIVNPQAAEK KVAEANQKYF 490 SSMAEFLKVK GEKSGLMST
	Isoform 2 [UniParc]. Checksum: 799839F6D6489EEB	FASTA	364	40,779
	10 20 30 40 50 60 MSLADELLAD LEEAAEEEEG GSYGEEEEEP AIEDVQEETQ LDLSGDSVKT IAKLWDSKMF 70 80 90 100 110 120 AEIMMKIEEY ISKQAKASEV MGPVEAAPEY RVIVDANNLT VEIENELNII HKFIRDKYSK 130 140 150 160 170 180 RFPELESLVP NALDYIRTVK ELGNSLDKCK NNENLQQILT NATIMVVSVT ASTTQGQQLS 190 200 210 220 230 240 EEELERLEEA CDMALELNAS KHRIYEYVES RMSFIAPNLS IIIGASTAAK IMGVAGGLTN 250 260 270 280 290 300 LSKMPACNIM LLGAQRKTLS GFSSTSVLPH TGYIYHSDIV QSLPPDLRRK AARLVAAKCT 310 320 330 340 350 360 LAARVDSFHE STEGKVGYEL KDEIERKFDK WQRRRWLRPT RSISPAWLSS SRSRARRVAL CPPE
	Isoform 3 [UniParc]. Checksum: 9FCE9E591AF0B586	FASTA	278	30,966
	10 20 30 40 50 60 MGPVEAAPEY RVIVDANNLT VEIENELNII HKFIRDKYSK RFPELESLVP NALDYIRTVK 70 80 90 100 110 120 ELGNSLDKCK NNENLQQILT NATIMVVSVT ASTTQGQQLS EEELERLEEA CDMALELNAS 130 140 150 160 170 180 KHRIYEYVES RMSFIAPNLS IIIGASTAAK IMGVAGGLTN LSKMPACNIM LLGAQRKTLS 190 200 210 220 230 240 GFSSTSVLPH TGYIYHSDIV QSLPPDLRRK AARLVAAKCT LAARVDSFHE STEGKVGYEL 250 260 270 KDEIERKFDK WQEPPPVKQV KPLPAPLDGQ RKKRGGRR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6.U5 tri-snRNP formation and pre-mRNA splicing." Makarova O.V., Makarov E.M., Liu S., Vornlocher H.-P., Luehrmann R. EMBO J. 21:1148-1157(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBUNIT, SUBCELLULAR LOCATION, FUNCTION, INTERACTION WITH C20ORF14.
[2]	"Humoral immunity to human breast cancer: antigen definition and quantitative analysis of mRNA expression." Scanlan M.J., Gout I., Gordon C.M., Williamson B., Stockert E., Gure A.O., Jaeger D., Chen Y.-T., Mackay A., O'Hare M.J., Old L.J. Cancer Immun. 1:4-4(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). Tissue: Mammary gland.
[3]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Kidney.
[4]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[5]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] 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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[7]	"Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF." Dou Y., Milne T.A., Tackett A.J., Smith E.R., Fukuda A., Wysocka J., Allis C.D., Chait B.T., Hess J.L., Roeder R.G. Cell 121:873-885(2005) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE MLL1/MLL COMPLEX.
[8]	"The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP." Liu S., Rauhut R., Vornlocher H.-P., Luehrmann R. RNA 12:1418-1430(2006) [PubMed] [Europe PMC] [Abstract] Cited for: SUBUNIT.
[9]	"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-450 AND THR-455, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[10]	"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-379 AND THR-455, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[11]	"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-455, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[12]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]	"CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31." Ganesh K., Adam S., Taylor B., Simpson P., Rada C., Neuberger M. J. Biol. Chem. 286:17091-17102(2011) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH CTNNBL1.
[14]	"Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP." Liu S., Li P., Dybkov O., Nottrott S., Hartmuth K., Luehrmann R., Carlomagno T., Wahl M.C. Science 316:115-120(2007) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 78-333 IN COMPLEX WITH NHP2L1 AND STEM-LOOP RNA OF U4 SNRNA, COILED-COIL DOMAIN, INTERACTION WITH PRPF6, CHARACTERIZATION OF VARIANTS RP11 GLU-194 AND PRO-216, MUTAGENESIS OF HIS-270.
[15]	"Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype." Al-Maghtheh M., Vithana E., Tarttelin E., Jay M., Evans K., Moore T., Bhattacharya S., Inglehearn C.F. Am. J. Hum. Genet. 59:864-871(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT RP11 PRO-216.
[16]	"A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)." Vithana E.N., Abu-Safieh L., Allen M.J., Carey A., Papaioannou M., Chakarova C., Al-Maghtheh M., Ebenezer N.D., Willis C., Moore A.T., Bird A.C., Hunt D.M., Bhattacharya S.S. Mol. Cell 8:375-381(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS RP11 GLU-194 AND RP11 PRO-216, TISSUE SPECIFICITY.
[17]	"Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31." Deery E.C., Vithana E.N., Newbold R.J., Gallon V.A., Bhattacharya S.S., Warren M.J., Hunt D.M., Wilkie S.E. Hum. Mol. Genet. 11:3209-3219(2002) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION OF VARIANTS RP11 GLU-194 AND PRO-216, SUBCELLULAR LOCATION, NUCLEAR LOCALIZATION SIGNAL, MUTAGENESIS OF 351-ARG--GLU-364.
[18]	"Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family." Wang L., Ribaudo M., Zhao K., Yu N., Chen Q., Sun Q., Wang L., Wang Q. Am. J. Med. Genet. A 121:235-239(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT RP11 111-HIS--ILE-114 DEL.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AY040822 mRNA. Translation: AAK77986.1.
AF308303 mRNA. Translation: AAG48270.1.
AL050369 mRNA. Translation: CAB43677.1.
AK098547 mRNA. Translation: BAC05329.1.
AC012314 Genomic DNA. No translation available.
BC117389 mRNA. Translation: AAI17390.1.

IPI

IPI00167198.
IPI00292000.
IPI00738596.

RefSeq

NP_056444.3. NM_015629.3.

UniGene

Hs.515598.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2OZB	X-ray	2.60	B/E	78-333	[»]
3SIU	X-ray	2.63	B/E	85-333	[»]
3SIV	X-ray	3.30	B/E/H/K	85-333	[»]

ProteinModelPortal

Q8WWY3.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q8WWY3. 11 interactions.

STRING

9606.ENSP00000324122.

PTM databases

PhosphoSite

Q8WWY3.

Polymorphism databases

DMDM

90101442.

Proteomic databases

PaxDb

Q8WWY3.

PRIDE

Q8WWY3.

Protocols and materials databases

DNASU

26121.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000321030; ENSP00000324122; ENSG00000105618.
ENST00000574214; ENSP00000459844; ENSG00000268831.
ENST00000594459; ENSP00000470434; ENSG00000268383.
ENST00000594992; ENSP00000470951; ENSG00000268495.
ENST00000595296; ENSP00000469212; ENSG00000269606.
ENST00000596401; ENSP00000472824; ENSG00000269379.
ENST00000598374; ENSP00000472567; ENSG00000268710.
ENST00000598556; ENSP00000471591; ENSG00000269276.
ENST00000599348; ENSP00000470497; ENSG00000267847.

GeneID

26121.

KEGG

hsa:26121.

UCSC

uc002qdh.2. human.

Organism-specific databases

CTD

26121.

GeneCards

GC19P054618.

H-InvDB

HIX0027609.
HIX0137464.

HGNC

HGNC:15446. PRPF31.

HPA

HPA041939.

MIM

600138. phenotype.
606419. gene.

neXtProt

NX_Q8WWY3.

Orphanet

791. Retinitis pigmentosa.

PharmGKB

PA33814.

GenAtlas

Search...

Phylogenomic databases

eggNOG

COG1498.

HOGENOM

HOG000207983.

HOVERGEN

HBG082193.

InParanoid

Q8WWY3.

KO

K12844.

OMA

VESDPEY.

OrthoDB

EOG4W6NW1.

PhylomeDB

Q8WWY3.

Gene expression databases

ArrayExpress

Q8WWY3.

Bgee

Q8WWY3.

CleanEx

HS_PRPF31.

Genevestigator

Q8WWY3.

GermOnline

ENSG00000105618. Homo sapiens.

Family and domain databases

InterPro

IPR002687. Nop_dom.
IPR012976. NOSIC.
IPR027105. Prp31.
IPR019175. Prp31_C.
[Graphical view]

PANTHER

PTHR13904. PTHR13904. 1 hit.

Pfam

PF01798. Nop. 1 hit.
PF08060. NOSIC. 1 hit.
PF09785. Prp31_C. 1 hit.
[Graphical view]

SMART

SM00931. NOSIC. 1 hit.
[Graphical view]

PROSITE

PS51358. NOP. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

Q8WWY3.

GenomeRNAi

26121.

NextBio

48131.

SOURCE

Search...

Entry information

Entry name

PRP31_HUMAN

Accession

Primary (citable) accession number: Q8WWY3
Secondary accession number(s): Q17RB4 , Q8N7F9, Q9H271, Q9Y439

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	March 21, 2006
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.