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Q8WWQ2

- HPSE2_HUMAN

UniProt

Q8WWQ2 - HPSE2_HUMAN

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Protein

Inactive heparanase-2

Gene

HPSE2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Binds heparin and heparan sulfate with high affinity, but lacks heparanase activity. Inhibits HPSE, possibly by competing for its substrates (in vitro).1 Publication

GO - Molecular functioni

  1. heparanase activity Source: UniProtKB
  2. heparan sulfate proteoglycan binding Source: UniProtKB

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. glycosaminoglycan catabolic process Source: Reactome
  3. glycosaminoglycan metabolic process Source: Reactome
  4. small molecule metabolic process Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_120752. HS-GAG degradation.

Names & Taxonomyi

Protein namesi
Recommended name:
Inactive heparanase-2
Short name:
Hpa2
Gene namesi
Name:HPSE2
Synonyms:HPA2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:18374. HPSE2.

Subcellular locationi

Secretedextracellular spaceextracellular matrix 1 Publication

GO - Cellular componenti

  1. intracellular Source: UniProtKB
  2. plasma membrane Source: Reactome
  3. proteinaceous extracellular matrix Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Extracellular matrix, Secreted

Pathology & Biotechi

Involvement in diseasei

Urofacial syndrome 1 (UFS1) [MIM:236730]: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.

Organism-specific databases

MIMi236730. phenotype.
Orphaneti2704. Ochoa syndrome.
PharmGKBiPA38533.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4141Sequence AnalysisAdd
BLAST
Chaini42 – 592551Inactive heparanase-2PRO_0000068140Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi254 – 2541N-linked (GlcNAc...)Sequence Analysis
Glycosylationi392 – 3921N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8WWQ2.
PRIDEiQ8WWQ2.

PTM databases

PhosphoSiteiQ8WWQ2.

Expressioni

Tissue specificityi

Widely expressed, with the highest expression in brain, mammary gland, prostate, small intestine, testis and uterus. In the central nervous system, expressed in the spinal chord, caudate nucleus, thalamus, substantia nigra, medulla oblongata, putamen and pons. In the urinary bladder, expressed in longitudinal and circular layers of detrusor muscle. Found both in normal and cancer tissues.2 Publications

Developmental stagei

Expressed in the developing forebrain, diencephalon, midbrain, hind brain and spinal cord at Carnagie stage 16 (CS16, 6 weeks of gestation) and CS21 (8 weeks).1 Publication

Gene expression databases

BgeeiQ8WWQ2.
CleanExiHS_HPSE2.
GenevestigatoriQ8WWQ2.

Organism-specific databases

HPAiHPA044603.

Interactioni

Subunit structurei

Interacts with HPSE. Interacts with SDC1 (via glycan chains).1 Publication

Protein-protein interaction databases

STRINGi9606.ENSP00000359583.

Structurei

3D structure databases

ProteinModelPortaliQ8WWQ2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 79 family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

eggNOGiNOG72789.
GeneTreeiENSGT00390000004874.
HOVERGENiHBG081606.
InParanoidiQ8WWQ2.
KOiK07965.
OMAiVNTKSPV.
OrthoDBiEOG7BZVRW.
PhylomeDBiQ8WWQ2.
TreeFamiTF328999.

Family and domain databases

Gene3Di3.20.20.80. 1 hit.
InterProiIPR005199. Glyco_hydro_79.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view]
PANTHERiPTHR14363. PTHR14363. 1 hit.
PfamiPF03662. Glyco_hydro_79n. 1 hit.
[Graphical view]
SUPFAMiSSF51445. SSF51445. 2 hits.

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8WWQ2-1) [UniParc]FASTAAdd to Basket

Also known as: HPA2c

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.

« Hide

        10         20         30         40         50
MRVLCAFPEA MPSSNSRPPA CLAPGALYLA LLLHLSLSSQ AGDRRPLPVD
60 70 80 90 100
RAAGLKEKTL ILLDVSTKNP VRTVNENFLS LQLDPSIIHD GWLDFLSSKR
110 120 130 140 150
LVTLARGLSP AFLRFGGKRT DFLQFQNLRN PAKSRGGPGP DYYLKNYEDD
160 170 180 190 200
IVRSDVALDK QKGCKIAQHP DVMLELQREK AAQMHLVLLK EQFSNTYSNL
210 220 230 240 250
ILTARSLDKL YNFADCSGLH LIFALNALRR NPNNSWNSSS ALSLLKYSAS
260 270 280 290 300
KKYNISWELG NEPNNYRTMH GRAVNGSQLG KDYIQLKSLL QPIRIYSRAS
310 320 330 340 350
LYGPNIGRPR KNVIALLDGF MKVAGSTVDA VTWQHCYIDG RVVKVMDFLK
360 370 380 390 400
TRLLDTLSDQ IRKIQKVVNT YTPGKKIWLE GVVTTSAGGT NNLSDSYAAG
410 420 430 440 450
FLWLNTLGML ANQGIDVVIR HSFFDHGYNH LVDQNFNPLP DYWLSLLYKR
460 470 480 490 500
LIGPKVLAVH VAGLQRKPRP GRVIRDKLRI YAHCTNHHNH NYVRGSITLF
510 520 530 540 550
IINLHRSRKK IKLAGTLRDK LVHQYLLQPY GQEGLKSKSV QLNGQPLVMV
560 570 580 590
DDGTLPELKP RPLRAGRTLV IPPVTMGFYV VKNVNALACR YR
Length:592
Mass (Da):66,596
Last modified:February 6, 2007 - v3
Checksum:i95C384AD9A6C868E
GO
Isoform 2 (identifier: Q8WWQ2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     539-548: SVQLNGQPLV → TQRCQYCGII
     549-592: Missing.

Show »
Length:548
Mass (Da):61,816
Checksum:i2572C68423CD2C51
GO
Isoform 3 (identifier: Q8WWQ2-3) [UniParc]FASTAAdd to Basket

Also known as: HPA2b

The sequence of this isoform differs from the canonical sequence as follows:
     204-261: Missing.

Show »
Length:534
Mass (Da):60,080
Checksum:iC3DE5E900CAB9BC4
GO
Isoform 4 (identifier: Q8WWQ2-4) [UniParc]FASTAAdd to Basket

Also known as: HPA2a

The sequence of this isoform differs from the canonical sequence as follows:
     150-261: Missing.

Show »
Length:480
Mass (Da):53,917
Checksum:iF75F89F67AD95C83
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti12 – 121P → L in CAC82492. 1 PublicationCurated
Sequence conflicti213 – 2131F → S in CAC82491. 1 PublicationCurated
Sequence conflicti213 – 2131F → S in CAC82492. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti315 – 3151A → T.
Corresponds to variant rs17110744 [ dbSNP | Ensembl ].
VAR_030472
Natural varianti579 – 5791Y → F.2 Publications
Corresponds to variant rs10883100 [ dbSNP | Ensembl ].
VAR_023601

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei150 – 261112Missing in isoform 4. 1 PublicationVSP_015850Add
BLAST
Alternative sequencei204 – 26158Missing in isoform 3. 1 PublicationVSP_015851Add
BLAST
Alternative sequencei539 – 54810SVQLNGQPLV → TQRCQYCGII in isoform 2. 1 PublicationVSP_015852
Alternative sequencei549 – 59244Missing in isoform 2. 1 PublicationVSP_015853Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF282885 mRNA. Translation: AAG23421.1.
AF282886 mRNA. Translation: AAG23422.1.
AF282887 mRNA. Translation: AAG23423.1.
AJ299719 mRNA. Translation: CAC82491.1.
AJ299720 mRNA. Translation: CAC82492.1.
AL590036
, AL139243, AL356220, AL356268, AL445251 Genomic DNA. Translation: CAH73137.1.
AL139243
, AL356220, AL356268, AL445251, AL590036 Genomic DNA. Translation: CAI14146.1.
AL356268
, AL139243, AL356220, AL445251, AL590036 Genomic DNA. Translation: CAH70448.1.
AL445251
, AL139243, AL356220, AL356268, AL590036 Genomic DNA. Translation: CAI16472.1.
AL356220
, AL139243, AL356268, AL445251, AL590036 Genomic DNA. Translation: CAI17160.1.
AL590036
, AL139243, AL356220, AL356268, AL445251 Genomic DNA. Translation: CAH73139.1.
AL356220
, AL356268, AL139243, AL445251, AL590036 Genomic DNA. Translation: CAI17162.1.
AL356268
, AL139243, AL356220, AL445251, AL590036 Genomic DNA. Translation: CAH70450.1.
AL445251
, AL139243, AL356220, AL356268, AL590036 Genomic DNA. Translation: CAI16474.1.
AL139243
, AL356220, AL356268, AL445251, AL590036 Genomic DNA. Translation: CAI14148.1.
AL590036
, AL139243, AL356220, AL356268, AL445251 Genomic DNA. Translation: CAH73138.1.
AL356220
, AL139243, AL356268, AL445251, AL590036 Genomic DNA. Translation: CAI17161.1.
AL356268
, AL139243, AL356220, AL445251, AL590036 Genomic DNA. Translation: CAH70449.1.
AL445251
, AL139243, AL356220, AL356268, AL590036 Genomic DNA. Translation: CAI16473.1.
AL139243
, AL356220, AL356268, AL445251, AL590036 Genomic DNA. Translation: CAI14147.1.
CCDSiCCDS53567.1. [Q8WWQ2-3]
CCDS53568.1. [Q8WWQ2-2]
CCDS7477.1. [Q8WWQ2-1]
PIRiJC7506.
RefSeqiNP_001159716.1. NM_001166244.1. [Q8WWQ2-3]
NP_001159717.1. NM_001166245.1. [Q8WWQ2-4]
NP_001159718.1. NM_001166246.1. [Q8WWQ2-2]
NP_068600.4. NM_021828.4. [Q8WWQ2-1]
UniGeneiHs.500750.
Hs.676960.
Hs.689544.

Genome annotation databases

EnsembliENST00000370546; ENSP00000359577; ENSG00000172987. [Q8WWQ2-2]
ENST00000370549; ENSP00000359580; ENSG00000172987. [Q8WWQ2-3]
ENST00000370552; ENSP00000359583; ENSG00000172987. [Q8WWQ2-1]
GeneIDi60495.
KEGGihsa:60495.
UCSCiuc001kpn.2. human. [Q8WWQ2-1]
uc001kpo.2. human. [Q8WWQ2-3]
uc009xwc.2. human. [Q8WWQ2-2]
uc009xwd.2. human. [Q8WWQ2-4]

Polymorphism databases

DMDMi125987832.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF282885 mRNA. Translation: AAG23421.1 .
AF282886 mRNA. Translation: AAG23422.1 .
AF282887 mRNA. Translation: AAG23423.1 .
AJ299719 mRNA. Translation: CAC82491.1 .
AJ299720 mRNA. Translation: CAC82492.1 .
AL590036
, AL139243 , AL356220 , AL356268 , AL445251 Genomic DNA. Translation: CAH73137.1 .
AL139243
, AL356220 , AL356268 , AL445251 , AL590036 Genomic DNA. Translation: CAI14146.1 .
AL356268
, AL139243 , AL356220 , AL445251 , AL590036 Genomic DNA. Translation: CAH70448.1 .
AL445251
, AL139243 , AL356220 , AL356268 , AL590036 Genomic DNA. Translation: CAI16472.1 .
AL356220
, AL139243 , AL356268 , AL445251 , AL590036 Genomic DNA. Translation: CAI17160.1 .
AL590036
, AL139243 , AL356220 , AL356268 , AL445251 Genomic DNA. Translation: CAH73139.1 .
AL356220
, AL356268 , AL139243 , AL445251 , AL590036 Genomic DNA. Translation: CAI17162.1 .
AL356268
, AL139243 , AL356220 , AL445251 , AL590036 Genomic DNA. Translation: CAH70450.1 .
AL445251
, AL139243 , AL356220 , AL356268 , AL590036 Genomic DNA. Translation: CAI16474.1 .
AL139243
, AL356220 , AL356268 , AL445251 , AL590036 Genomic DNA. Translation: CAI14148.1 .
AL590036
, AL139243 , AL356220 , AL356268 , AL445251 Genomic DNA. Translation: CAH73138.1 .
AL356220
, AL139243 , AL356268 , AL445251 , AL590036 Genomic DNA. Translation: CAI17161.1 .
AL356268
, AL139243 , AL356220 , AL445251 , AL590036 Genomic DNA. Translation: CAH70449.1 .
AL445251
, AL139243 , AL356220 , AL356268 , AL590036 Genomic DNA. Translation: CAI16473.1 .
AL139243
, AL356220 , AL356268 , AL445251 , AL590036 Genomic DNA. Translation: CAI14147.1 .
CCDSi CCDS53567.1. [Q8WWQ2-3 ]
CCDS53568.1. [Q8WWQ2-2 ]
CCDS7477.1. [Q8WWQ2-1 ]
PIRi JC7506.
RefSeqi NP_001159716.1. NM_001166244.1. [Q8WWQ2-3 ]
NP_001159717.1. NM_001166245.1. [Q8WWQ2-4 ]
NP_001159718.1. NM_001166246.1. [Q8WWQ2-2 ]
NP_068600.4. NM_021828.4. [Q8WWQ2-1 ]
UniGenei Hs.500750.
Hs.676960.
Hs.689544.

3D structure databases

ProteinModelPortali Q8WWQ2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000359583.

PTM databases

PhosphoSitei Q8WWQ2.

Polymorphism databases

DMDMi 125987832.

Proteomic databases

PaxDbi Q8WWQ2.
PRIDEi Q8WWQ2.

Protocols and materials databases

DNASUi 60495.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000370546 ; ENSP00000359577 ; ENSG00000172987 . [Q8WWQ2-2 ]
ENST00000370549 ; ENSP00000359580 ; ENSG00000172987 . [Q8WWQ2-3 ]
ENST00000370552 ; ENSP00000359583 ; ENSG00000172987 . [Q8WWQ2-1 ]
GeneIDi 60495.
KEGGi hsa:60495.
UCSCi uc001kpn.2. human. [Q8WWQ2-1 ]
uc001kpo.2. human. [Q8WWQ2-3 ]
uc009xwc.2. human. [Q8WWQ2-2 ]
uc009xwd.2. human. [Q8WWQ2-4 ]

Organism-specific databases

CTDi 60495.
GeneCardsi GC10M100208.
GeneReviewsi HPSE2.
HGNCi HGNC:18374. HPSE2.
HPAi HPA044603.
MIMi 236730. phenotype.
613469. gene.
neXtProti NX_Q8WWQ2.
Orphaneti 2704. Ochoa syndrome.
PharmGKBi PA38533.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG72789.
GeneTreei ENSGT00390000004874.
HOVERGENi HBG081606.
InParanoidi Q8WWQ2.
KOi K07965.
OMAi VNTKSPV.
OrthoDBi EOG7BZVRW.
PhylomeDBi Q8WWQ2.
TreeFami TF328999.

Enzyme and pathway databases

Reactomei REACT_120752. HS-GAG degradation.

Miscellaneous databases

GeneWikii HPSE2.
GenomeRNAii 60495.
NextBioi 65399.
PROi Q8WWQ2.
SOURCEi Search...

Gene expression databases

Bgeei Q8WWQ2.
CleanExi HS_HPSE2.
Genevestigatori Q8WWQ2.

Family and domain databases

Gene3Di 3.20.20.80. 1 hit.
InterProi IPR005199. Glyco_hydro_79.
IPR013781. Glyco_hydro_catalytic_dom.
IPR017853. Glycoside_hydrolase_SF.
[Graphical view ]
PANTHERi PTHR14363. PTHR14363. 1 hit.
Pfami PF03662. Glyco_hydro_79n. 1 hit.
[Graphical view ]
SUPFAMi SSF51445. SSF51445. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 3 AND 4), VARIANT PHE-579, TISSUE SPECIFICITY.
    Tissue: Heart.
  2. Legoux P., Legoux R., O'Brien D., Salome M.
    Submitted (JAN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT PHE-579.
    Tissue: Prostate.
  3. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: INVOLVEMENT IN UFS1.
  5. Cited for: INVOLVEMENT IN UFS1, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
  6. "Heparanase 2 interacts with heparan sulfate with high affinity and inhibits heparanase activity."
    Levy-Adam F., Feld S., Cohen-Kaplan V., Shteingauz A., Gross M., Arvatz G., Naroditsky I., Ilan N., Doweck I., Vlodavsky I.
    J. Biol. Chem. 285:28010-28019(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH HPSE, ABSENCE OF HEPARANASE ACTIVITY.

Entry informationi

Entry nameiHPSE2_HUMAN
AccessioniPrimary (citable) accession number: Q8WWQ2
Secondary accession number(s): Q5VUH4
, Q5VUH5, Q5VUH6, Q8WWQ1, Q9HB37, Q9HB38, Q9HB39
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: February 6, 2007
Last modified: October 29, 2014
This is version 97 of the entry and version 3 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3