Reactome | HYAL1 V251Ffs*20 [lysosomal lumen]

HYAL1 V251Ffs*20 [lysosomal lumen]

Stable Identifier

R-HSA-2318714

Type

Protein [EntityWithAccessionedSequence]

Species

Homo sapiens

Compartment

lysosomal lumen

Synonyms

HYAL1, Hyaluronidase-1, HYAL1_HUMAN, c.1361del37ins14/p.E268K HYAL1

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Literature References

PubMed ID	Title	Journal	Year
10339581	Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX Salo, TJ, Natowicz, MR, Triggs-Raine, B, Wicklow, BA, Zhang, H	Proc. Natl. Acad. Sci. U.S.A.	1999

External Reference Information

External Reference

UniProt:Q12794 HYAL1

Gene Names

HYAL1, LUCA1

Chain

signal peptide:1-21, chain:22-435

Reference Genes

BioGPS Gene:3373 HYAL1

COSMIC (genes):HYAL1 HYAL1

CTD Gene:3373 HYAL1

dbSNP Gene:3373 HYAL1

ENSEMBL:ENSG00000114378 HYAL1

ENSEMBL_homo_sapiens_GENE:ENSG00000114378.17 HYAL1

HGNC:5320 HYAL1

KEGG Gene (Homo sapiens):3373 HYAL1

Monarch:3373 HYAL1

NCBI Gene:3373 HYAL1

OMIM:607071 HYAL1

UCSC:Q12794 HYAL1

Reference Transcript

Other Identifiers

11740989_a_at

11740990_x_at

11751860_a_at

11751861_x_at

11753209_a_at

11753210_x_at

11755620_a_at

1546_at

16954401

210619_PM_s_at

210619_s_at

2675141

2675147

2675149

2675151

2675152

2675153

2675155

2675156

2675157

2675158

2675159

2675160

2675161

2675162

2675163

2675164

2675165

2675166

3373

37176_at

3809823

8087611

A_23_P69329

A_24_P208774

GE58858

GO:0000278

GO:0000302

GO:0003824

GO:0004415

GO:0005576

GO:0005615

GO:0005737

GO:0005764

GO:0005773

GO:0005975

GO:0006027

GO:0006790

GO:0006954

GO:0007155

GO:0008152

GO:0009615

GO:0010634

GO:0016740

GO:0016787

GO:0016798

GO:0030207

GO:0030212

GO:0030213

GO:0030214

GO:0030307

GO:0030308

GO:0031410

GO:0036117

GO:0036120

GO:0043202

GO:0043226

GO:0044344

GO:0045766

GO:0045785

GO:0045927

GO:0046677

GO:0048856

GO:0048870

GO:0050501

GO:0050679

GO:0051216

GO:0052757

GO:0060272

GO:0070062

GO:0071347

GO:0071356

GO:0071467

GO:0071493

GO:1900087

GO:1900106

GO:1901135

HMNXSV003049316

ILMN_1693230

ILMN_1712620

ILMN_1739813

ILMN_2314417

PH_hs_0004350

TC03001427.hg

U03056_at

g5825510_3p_a_at

Participates

as a member of

HYAL1 mutants [lysosomal lumen] (Homo sapiens)

Other forms of this molecule

HYAL1 E268K [lysosomal lumen]

HYAL1 [lysosomal lumen]

Modified Residues

Name

Replacement of residues 251 to 269 by FRVARIPCGRGIPCGCGCW

Disease

Name	Identifier	Synonyms
mucopolysaccharidosis	DOID:12798	Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]

Cross References

RefSeq

NP_695015.1, NP_695013.1, XP_011531969.1, NP_695014.1, NP_695017.1, XP_011531970.1, XP_011531971.1, NP_149349.2

ClinGen

CA116328

OpenTargets

ENSG00000114378

IntEnz

3.2.1.35

GeneCards

Q12794

HPA

ENSG00000114378-HYAL1

Ensembl

ENST00000266031, ENSP00000477903, ENSP00000393358, ENST00000395144, ENSP00000266031, ENST00000618175, ENSP00000390149, ENST00000457214, ENSP00000378575, ENSP00000378576, ENST00000320295, ENST00000395143, ENSG00000114378, ENSP00000346068, ENST00000447605

PRO

Q12794

Pharos - Targets

Q12794

Orphanet

16236

PDB

2PE4

HMDB Protein

HMDBP09372