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Protein

Phosphatidylinositol phosphatase PTPRQ

Gene

PTPRQ

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells.1 Publication

Catalytic activityi

Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.PROSITE-ProRule annotation

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei2233Phosphocysteine intermediatePROSITE-ProRule annotation1

GO - Molecular functioni

GO - Biological processi

  • regulation of fat cell differentiation Source: UniProtKB

Keywordsi

Molecular functionHydrolase, Protein phosphatase, Receptor

Enzyme and pathway databases

BRENDAi3.1.3.48 2681

Names & Taxonomyi

Protein namesi
Recommended name:
Phosphatidylinositol phosphatase PTPRQ (EC:3.1.3.-)
Alternative name(s):
Receptor-type tyrosine-protein phosphatase Q (EC:3.1.3.48)
Short name:
PTP-RQ
Short name:
R-PTP-Q
Gene namesi
Name:PTPRQ
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:9679 PTPRQ
MIMi603317 gene
neXtProtiNX_Q9UMZ3

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini36 – 1947ExtracellularSequence analysisAdd BLAST1912
Transmembranei1948 – 1968HelicalSequence analysisAdd BLAST21
Topological domaini1969 – 2332CytoplasmicSequence analysisAdd BLAST364

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 84A (DFNB84A)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction.
See also OMIM:613391
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063526281R → G in DFNB84A. 1 Publication1
Deafness, autosomal dominant, 73 (DFNA73)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic hearing loss characterized by mild to severe bilateral symptoms with variable age of onset from early childhood to the third decade.
See also OMIM:617663
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0801842327 – 2332Missing in DFNA73; unknown pathological significance; no effect on PTPRQ expression in patient cells. 1 Publication6

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi374462
MalaCardsiPTPRQ
MIMi613391 phenotype
617663 phenotype
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB

Polymorphism and mutation databases

DMDMi158563998

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000030285036 – 2332Phosphatidylinositol phosphatase PTPRQAdd BLAST2297

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi94N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi202N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi394N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi944N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1038N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1080N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1101N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1290N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1295N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1844N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ9UMZ3
PeptideAtlasiQ9UMZ3
PRIDEiQ9UMZ3
ProteomicsDBi85237

PTM databases

DEPODiQ9UMZ3
iPTMnetiQ9UMZ3
PhosphoSitePlusiQ9UMZ3

Expressioni

Tissue specificityi

In developing kidney, it localizes to the basal membrane of podocytes, beginning when podocyte progenitors can first be identified in the embryonic kidney (at protein level). Expressed in lung and kidney.2 Publications

Developmental stagei

Expressed at highest levels in fetal kidney, followed by fetal lung and fetal cochlea.1 Publication

Inductioni

Down-regulated during adipogenesis of mesenchymal stem cells.1 Publication

Gene expression databases

CleanExiHS_PTPRQ

Organism-specific databases

HPAiHPA053245

Structurei

Secondary structure

12332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9UMZ3
SMRiQ9UMZ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini36 – 99Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST64
Domaini100 – 195Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST96
Domaini199 – 294Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST96
Domaini350 – 438Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST89
Domaini441 – 539Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST99
Domaini514 – 606Fibronectin type-III 6PROSITE-ProRule annotationAdd BLAST93
Domaini610 – 705Fibronectin type-III 7PROSITE-ProRule annotationAdd BLAST96
Domaini710 – 799Fibronectin type-III 8PROSITE-ProRule annotationAdd BLAST90
Domaini804 – 894Fibronectin type-III 9PROSITE-ProRule annotationAdd BLAST91
Domaini899 – 988Fibronectin type-III 10PROSITE-ProRule annotationAdd BLAST90
Domaini993 – 1093Fibronectin type-III 11PROSITE-ProRule annotationAdd BLAST101
Domaini1098 – 1190Fibronectin type-III 12PROSITE-ProRule annotationAdd BLAST93
Domaini1192 – 1282Fibronectin type-III 13PROSITE-ProRule annotationAdd BLAST91
Domaini1287 – 1380Fibronectin type-III 14PROSITE-ProRule annotationAdd BLAST94
Domaini1384 – 1470Fibronectin type-III 15PROSITE-ProRule annotationAdd BLAST87
Domaini1474 – 1578Fibronectin type-III 16PROSITE-ProRule annotationAdd BLAST105
Domaini1583 – 1681Fibronectin type-III 17PROSITE-ProRule annotationAdd BLAST99
Domaini1686 – 1787Fibronectin type-III 18PROSITE-ProRule annotationAdd BLAST102
Domaini2036 – 2292Tyrosine-protein phosphatasePROSITE-ProRule annotationAdd BLAST257

Sequence similaritiesi

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

HOGENOMiHOG000115793
HOVERGENiHBG108308
InParanoidiQ9UMZ3
PhylomeDBiQ9UMZ3
TreeFamiTF351926

Family and domain databases

CDDicd00063 FN3, 17 hits
Gene3Di2.60.40.10, 15 hits
3.90.190.10, 1 hit
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR029021 Prot-tyrosine_phosphatase-like
IPR000242 PTPase_domain
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
IPR000387 TYR_PHOSPHATASE_dom
PfamiView protein in Pfam
PF00041 fn3, 13 hits
PF00102 Y_phosphatase, 1 hit
PRINTSiPR00700 PRTYPHPHTASE
SMARTiView protein in SMART
SM00060 FN3, 17 hits
SM00194 PTPc, 1 hit
SM00404 PTPc_motif, 1 hit
SUPFAMiSSF49265 SSF49265, 9 hits
SSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 17 hits
PS00383 TYR_PHOSPHATASE_1, 1 hit
PS50056 TYR_PHOSPHATASE_2, 1 hit
PS50055 TYR_PHOSPHATASE_PTP, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 6 potential isoforms that are computationally mapped.Show allAlign All

Q9UMZ3-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKKVPIKPEQ PEKLRAFNIS THSFSLHWSL PSGHVERYQV DLVPDSGFVT
60 70 80 90 100
IRDLGGGEYQ VDVSNVVPGT RYDITISSIS TTYTSPVTRI VTTNVTKPGP
110 120 130 140 150
PVFLAGERVG SAGILLSWNT PPNPNGRIIS YIVKYKEVCP WMQTVYTQVR
160 170 180 190 200
SKPDSLEVLL TNLNPGTTYE IKVAAENSAG IGVFSDPFLF QTAESAPGKV
210 220 230 240 250
VNLTVEAYNA SAVKLIWYLP RQPNGKITSF KISVKHARSG IVVKDVSIRV
260 270 280 290 300
EDILTGKLPE CNENSESFLW STASPSPTLG RVTPPSRTTH SSSTLTQNEI
310 320 330 340 350
SSVWKEPISF VVTHLRPYTT YLFEVSAVTT EAGYIDSTIV RTPESVPEGP
360 370 380 390 400
PQNCVTGNIT GKSFSILWDP PTIVTGKFSY RVELYGPSGR ILDNSTKDLK
410 420 430 440 450
FAFTNLTPFT MYDVYIAAET SAGTGPKSNI SVFTPPDVPG AVFDLQLAEV
460 470 480 490 500
ESTQVRITWK KPRQPNGIIN QYRVKVLVPE TGIILENTLL TGNNEYINDP
510 520 530 540 550
MAPEIVNIVE PMVGLYEGSA EMSSDLHSLA TFIYNSHPDK NFPARNRAED
560 570 580 590 600
QTSPVVTTRN QYITDIAAEQ LSYVIRRLVP FTEHMISVSA FTIMGEGPPT
610 620 630 640 650
VLSVRTRQQV PSSIKIINYK NISSSSILLY WDPPEYPNGK ITHYTIYAME
660 670 680 690 700
LDTNRAFQIT TIDNSFLITG LKKYTKYKMR VAASTHVGES SLSEENDIFV
710 720 730 740 750
RTSEDEPESS PQDVEVIDVT ADEIRLKWSP PEKPNGIIIA YEVLYKNIDT
760 770 780 790 800
LYMKNTSTTD IILRNLRPHT LYNISVRSYT RFGHGNQVSS LLSVRTSETV
810 820 830 840 850
PDSAPENITY KNISSGEIEL SFLPPSSPNG IIKKYTIYLK RSNGNEERTI
860 870 880 890 900
NTTSLTQNIK VLKKYTQYII EVSASTLKGE GVRSAPISIL TEEDAPDSPP
910 920 930 940 950
QDFSVKQLSG VTVKLSWQPP LEPNGIILYY TVYVWNRSSL KTINVTETSL
960 970 980 990 1000
ELSDLDYNVE YSAYVTASTR FGDGKTRSNI ISFQTPEGAP SDPPKDVYYA
1010 1020 1030 1040 1050
NLSSSSIILF WTPPSKPNGI IQYYSVYYRN TSGTFMQNFT LHEVTNDFDN
1060 1070 1080 1090 1100
MTVSTIIDKL TIFSYYTFWL TASTSVGNGN KSSDIIEVYT DQDIPEGFVG
1110 1120 1130 1140 1150
NLTYESISST AINVSWVPPA QPNGLVFYYV SLILQQTPRH VRPPLVTYER
1160 1170 1180 1190 1200
SIYFDNLEKY TDYILKITPS TEKGFSDTYT AQLYIKTEED VPETSPIINT
1210 1220 1230 1240 1250
FKNLSSTSVL LSWDPPVKPN GAIISYDLTL QGPNENYSFI TSDNYIILEE
1260 1270 1280 1290 1300
LSPFTLYSFF AAARTRKGLG PSSILFFYTD ESVPLAPPQN LTLINCTSDF
1310 1320 1330 1340 1350
VWLKWSPSPL PGGIVKVYSF KIHEHETDTI YYKNISGFKT EAKLVGLEPV
1360 1370 1380 1390 1400
STYSIRVSAF TKVGNGNQFS NVVKFTTQES VPDVVQNMQC MATSWQSVLV
1410 1420 1430 1440 1450
KWDPPKKANG IITQYMVTVE RNSTKVSPQD HMYTFIKLLA NTSYVFKVRA
1460 1470 1480 1490 1500
STSAGEGDES TCHVSTLPET VPSVPTNIAF SDVQSTSATL TWIRPDTILG
1510 1520 1530 1540 1550
YFQNYKITTQ LRAQKCKEWE SEECVEYQKI QYLYEAHLTE ETVYGLKKFR
1560 1570 1580 1590 1600
WYRFQVAAST NAGYGNASNW ISTKTLPGPP DGPPENVHVV ATSPFSISIS
1610 1620 1630 1640 1650
WSEPAVITGP TCYLIDVKSV DNDEFNISFI KSNEENKTIE IKDLEIFTRY
1660 1670 1680 1690 1700
SVVITAFTGN ISAAYVEGKS SAEMIVTTLE SAPKDPPNNM TFQKIPDEVT
1710 1720 1730 1740 1750
KFQLTFLPPS QPNGNIQVYQ ALVYREDDPT AVQIHNLSII QKTNTFVIAM
1760 1770 1780 1790 1800
LEGLKGGHTY NISVYAVNSA GAGPKVPMRI TMDIKAPARP KTKPTPIYDA
1810 1820 1830 1840 1850
TGKLLVTSTT ITIRMPICYY SDDHGPIKNV QVLVTETGAQ HDGNVTKWYD
1860 1870 1880 1890 1900
AYFNKARPYF TNEGFPNPPC TEGKTKFSGN EEIYIIGADN ACMIPGNEDK
1910 1920 1930 1940 1950
ICNGPLKPKK QYLFKFRATN IMGQFTDSDY SDPVKTLGEG LSERTVEIIL
1960 1970 1980 1990 2000
SVTLCILSII LLGTAIFAFA RIRQKQKEGG TYSPQDAEII DTKLKLDQLI
2010 2020 2030 2040 2050
TVADLELKDE RLTRPISKKS FLQHVEELCT NNNLKFQEEF SELPKFLQDL
2060 2070 2080 2090 2100
SSTDADLPWN RAKNRFPNIK PYNNNRVKLI ADASVPGSDY INASYISGYL
2110 2120 2130 2140 2150
CPNEFIATQG PLPGTVGDFW RMVWETRAKT LVMLTQCFEK GRIRCHQYWP
2160 2170 2180 2190 2200
EDNKPVTVFG DIVITKLMED VQIDWTIRDL KIERHGDCMT VRQCNFTAWP
2210 2220 2230 2240 2250
EHGVPENSAP LIHFVKLVRA SRAHDTTPMI VHCSAGVGRT GVFIALDHLT
2260 2270 2280 2290 2300
QHINDHDFVD IYGLVAELRS ERMCMVQNLA QYIFLHQCIL DLLSNKGSNQ
2310 2320 2330
PICFVNYSAL QKMDSLDAME GDVELEWEET TM
Length:2,332
Mass (Da):260,924
Last modified:September 11, 2007 - v2
Checksum:i999D87AA00BA04C2
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZU1A0A087WZU1_HUMAN
Phosphatidylinositol phosphatase PT...
PTPRQ
2,299Annotation score:
A0A087X0B9A0A087X0B9_HUMAN
Phosphatidylinositol phosphatase PT...
PTPRQ
2,332Annotation score:
H0YIJ5H0YIJ5_HUMAN
Phosphatidylinositol phosphatase PT...
PTPRQ
146Annotation score:
F8W122F8W122_HUMAN
Phosphatidylinositol phosphatase PT...
PTPRQ
332Annotation score:
F8VW52F8VW52_HUMAN
Phosphatidylinositol phosphatase PT...
PTPRQ
283Annotation score:
F8VXI2F8VXI2_HUMAN
Phosphatidylinositol phosphatase PT...
PTPRQ
353Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063526281R → G in DFNB84A. 1 Publication1
Natural variantiVAR_069041471Q → E1 PublicationCorresponds to variant dbSNP:rs61729287Ensembl.1
Natural variantiVAR_0349701040T → I. Corresponds to variant dbSNP:rs12316867Ensembl.1
Natural variantiVAR_0349711098F → L. Corresponds to variant dbSNP:rs6539524Ensembl.1
Natural variantiVAR_0349721120A → P. Corresponds to variant dbSNP:rs7975340Ensembl.1
Natural variantiVAR_0349731244N → D. Corresponds to variant dbSNP:rs17713202Ensembl.1
Natural variantiVAR_0349741734I → T. Corresponds to variant dbSNP:rs7963963Ensembl.1
Natural variantiVAR_0349752121R → K. Corresponds to variant dbSNP:rs1163042Ensembl.1
Natural variantiVAR_0801842327 – 2332Missing in DFNA73; unknown pathological significance; no effect on PTPRQ expression in patient cells. 1 Publication6

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC083812 Genomic DNA No translation available.
AC074031 Genomic DNA No translation available.
AF169351 mRNA Translation: AAD50277.1
UniGeneiHs.539284

Genome annotation databases

EnsembliENST00000266688; ENSP00000266688; ENSG00000139304

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC083812 Genomic DNA No translation available.
AC074031 Genomic DNA No translation available.
AF169351 mRNA Translation: AAD50277.1
UniGeneiHs.539284

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IKCX-ray1.56A2015-2293[»]
ProteinModelPortaliQ9UMZ3
SMRiQ9UMZ3
ModBaseiSearch...
MobiDBiSearch...

PTM databases

DEPODiQ9UMZ3
iPTMnetiQ9UMZ3
PhosphoSitePlusiQ9UMZ3

Polymorphism and mutation databases

DMDMi158563998

Proteomic databases

EPDiQ9UMZ3
PeptideAtlasiQ9UMZ3
PRIDEiQ9UMZ3
ProteomicsDBi85237

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266688; ENSP00000266688; ENSG00000139304

Organism-specific databases

DisGeNETi374462
GeneCardsiPTPRQ
H-InvDBiHIX0201920
HGNCiHGNC:9679 PTPRQ
HPAiHPA053245
MalaCardsiPTPRQ
MIMi603317 gene
613391 phenotype
617663 phenotype
neXtProtiNX_Q9UMZ3
Orphaneti90635 Autosomal dominant non-syndromic sensorineural deafness type DFNA
90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
GenAtlasiSearch...

Phylogenomic databases

HOGENOMiHOG000115793
HOVERGENiHBG108308
InParanoidiQ9UMZ3
PhylomeDBiQ9UMZ3
TreeFamiTF351926

Enzyme and pathway databases

BRENDAi3.1.3.48 2681

Miscellaneous databases

ChiTaRSiPTPRQ human
PROiPR:Q9UMZ3
SOURCEiSearch...

Gene expression databases

CleanExiHS_PTPRQ

Family and domain databases

CDDicd00063 FN3, 17 hits
Gene3Di2.60.40.10, 15 hits
3.90.190.10, 1 hit
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR013783 Ig-like_fold
IPR029021 Prot-tyrosine_phosphatase-like
IPR000242 PTPase_domain
IPR016130 Tyr_Pase_AS
IPR003595 Tyr_Pase_cat
IPR000387 TYR_PHOSPHATASE_dom
PfamiView protein in Pfam
PF00041 fn3, 13 hits
PF00102 Y_phosphatase, 1 hit
PRINTSiPR00700 PRTYPHPHTASE
SMARTiView protein in SMART
SM00060 FN3, 17 hits
SM00194 PTPc, 1 hit
SM00404 PTPc_motif, 1 hit
SUPFAMiSSF49265 SSF49265, 9 hits
SSF52799 SSF52799, 1 hit
PROSITEiView protein in PROSITE
PS50853 FN3, 17 hits
PS00383 TYR_PHOSPHATASE_1, 1 hit
PS50056 TYR_PHOSPHATASE_2, 1 hit
PS50055 TYR_PHOSPHATASE_PTP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPTPRQ_HUMAN
AccessioniPrimary (citable) accession number: Q9UMZ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: November 7, 2018
This is version 126 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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