GALNS G301C [lysosomal Lumen] - Reactome

Toggle navigation

• About
  • What is Reactome ?
  • News
  • Team
  • Scientific Advisory Board
  • Funding
  • Editorial Calendar
  • Release Calendar
  • Statistics
  • Our Logo
  • License Agreement
  • Privacy Notice
  • Disclaimer
  • Digital Preservation
  • Contact us
• Content
  • Table of Contents
  • DOIs
  • Data Schema
  • Reactome Research Spotlight
  • ORCID Integration Project
  • COVID-19 Disease Pathways
• Docs
  • Userguide
    • Pathway Browser
    • How do I search ?
    • Details Panel
    • Analysis Tools
      • Analysis Data
      • Analysis Gene Expression
      • Species Comparison
      • Tissue Distribution
    • Diseases
    • Cytomics
    • Review Status of Reactome Events
    • ReactomeFIViz
  • Developer's Zone
    • Graph Database
    • Analysis Service
    • Content Service
    • Pathways Overview
    • Pathway Diagrams
  • Icon Info
    • EHLD Specs & Guidelines
    • Icon Library Guidelines
  • Data Model
  • Curator Guide
  • Release Documentation
  • Computationally inferred events
  • FAQ
  • Linking to Us
  • Citing us
• Tools
  • Pathway Browser
  • Analyse gene list
  • Analyse gene expression
  • Species Comparison
  • Tissue Distribution
  • Analysis Service
  • Content Service
  • ReactomeFIViz
  • Advanced Data Search
  • Site Search
• Community
  • Contribute Pathway Knowledge
  • Icon Library
  • Outreach
  • Events
  • Publications
  • Partners
  • Contributors
  • Resources Guide
• Download

• About
  • What is Reactome ?
  • News
  • Team
  • Scientific Advisory Board
  • Funding
  • Editorial Calendar
  • Release Calendar
  • Statistics
  • Our Logo
  • License Agreement
  • Privacy Notice
  • Disclaimer
  • Digital Preservation
  • Contact us
• Content
  • Table of Contents
  • DOIs
  • Data Schema
  • Reactome Research Spotlight
  • ORCID Integration Project
  • COVID-19 Disease Pathways
• Docs
  • Userguide
    • Pathway Browser
    • How do I search ?
    • Details Panel
    • Analysis Tools
      • Analysis Data
      • Analysis Gene Expression
      • Species Comparison
      • Tissue Distribution
    • Diseases
    • Cytomics
    • Review Status of Reactome Events
    • ReactomeFIViz
  • Developer's Zone
    • Graph Database
    • Analysis Service
    • Content Service
    • Pathways Overview
    • Pathway Diagrams
  • Icon Info
    • EHLD Specs & Guidelines
    • Icon Library Guidelines
  • Data Model
  • Curator Guide
  • Release Documentation
  • Computationally inferred events
  • FAQ
  • Linking to Us
  • Citing us
• Tools
  • Pathway Browser
  • Analyse gene list
  • Analyse gene expression
  • Species Comparison
  • Tissue Distribution
  • Analysis Service
  • Content Service
  • ReactomeFIViz
  • Advanced Data Search
  • Site Search
• Community
  • Contribute Pathway Knowledge
  • Icon Library
  • Outreach
  • Events
  • Publications
  • Partners
  • Contributors
  • Resources Guide
• Download

Search ... Go!

GALNS G301C [lysosomal lumen]

Stable Identifier R-HSA-2245324 Type Protein [EntityWithAccessionedSequence] Species Homo sapiens Compartment lysosomal lumen Synonyms N-acetylgalactosamine-6-sulfatase, GALNS_HUMAN, p.Gly301Cys GALNS Icon Locations in the PathwayBrowser Expand all Disease (Homo sapiens)

• • Diseases of metabolism (Homo sapiens)
    • Diseases of carbohydrate metabolism (Homo sapiens)
      • Mucopolysaccharidoses (Homo sapiens)
        • MPS IV - Morquio syndrome A (Homo sapiens)
          • Defective GALNS does not hydrolyse sulfate from Gal6S in keratan sulfate (Homo sapiens)
            • GALNS mutants [lysosomal lumen] (Homo sapiens)
              • GALNS G301C [lysosomal lumen] (Homo sapiens)

External Reference Information External Reference UniProt:P34059 GALNS Gene Names GALNS Chain signal peptide:1-26, chain:27-522 Reference Genes BioGPS Gene:2588 GALNS COSMIC (genes):GALNS GALNS CTD Gene:2588 GALNS dbSNP Gene:2588 GALNS ENSEMBL:ENSG00000141012 GALNS HGNC:4122 GALNS KEGG:hsa:2588 GALNS Monarch:2588 GALNS NCBI Gene:2588 GALNS OMIM:612222 GALNS UCSC:P34059 GALNS Reference Transcript

• RefSeq:NM_000512.5 GALNS

Other Identifiers 11720379_s_at 11749556_a_at 16829242 206335_PM_at 206335_at 236866_PM_at 236866_at 2588 32100_r_at 3704512 3704514 3704515 3704521 3704522 3704524 3704525 3704526 3704528 3704529 3704530 3704531 3704532 3704533 3704534 3704535 3704536 3704537 3704538 3704539 3704540 3704541 3704542 3704548 3704549 3704550 3704551 3704552 3704553 3704554 3704555 48903_at 8003410 A_23_P106562 GE62635 GO:0003943 GO:0004065 GO:0005576 GO:0005764 GO:0008484 GO:0016787 GO:0035578 GO:0043202 GO:0043890 GO:0046872 GO:0070062 HMNXSV003001598 Hs.93834.0.A1_3p_at ILMN_1737949 PH_hs_0009707 TC16001345.hg U06088_at g9945384_3p_at Participates as a member of

• GALNS mutants [lysosomal lumen] (Homo sapiens)

Other forms of this molecule GALNS R386C [lysosomal lumen] GALNS I113F [lysosomal lumen] OxA-GALNS [extracellular region] OxA-GALNS [azurophil granule lumen] OxA-GALNS [lysosomal lumen] Modified Residues Name glycine 301 replaced with L-cysteine Coordinate 301 PsiMod glycine removal [MOD:01638] A protein modification that effectively removes or replaces an glycine. L-cysteine residue [MOD:00014] A protein modification that effectively converts a source amino acid residue to an L-cysteine. Disease

Name	Identifier	Synonyms
mucopolysaccharidosis IV	DOID:12804	mucopolysaccharidosis type IVA, Osteochondrodystrophy, deficiency of N-acetylgalactosamine-6-sulphatase, chondroosteodystrophy, Osteochondrodystrophy, Morquio syndrome A, MORQUIO A DISEASE, Mucopolysaccharidosis, MPS-IV-A (disorder), Mucopolysaccharidosis, MPS-IV, deficiency of chondroitinsulphatase, GALACTOSAMINE-6-SULFATASE DEFICIENCY

Cross References RefSeq NP_000503.1 Guide to Pharmacology - Targets 2765 ENSEMBL ENSG00000141012, ENSP00000268695, ENST00000268695 OpenTargets ENSG00000141012 Mondo 0018938 GeneCards GALNS HPA ENSG00000141012-GALNS PRO P34059 Pharos - Targets P34059 Orphanet GALNS HMDB Protein HMDBP02166 PDB 4FDI, 4FDJ Interactors (2)

Accession	#Entities	Entities	Confidence Score	Evidence (IntAct)
UniProt:Q03405 PLAUR	7	GPI-PLAUR [specific granule membrane] (R-HSA-6806143) PLAUR [plasma membrane] (R-HSA-6806165) GPI-PLAUR [plasma membrane] (R-HSA-158946) PLAUR(23-335) [endoplasmic reticulum membrane] (R-HSA-162866) PLAUR(306-335) [endoplasmic reticulum lumen] (R-HSA-162707) GPI-PLAUR [endoplasmic reticulum membrane] (R-HSA-162687) PLAUR [endoplasmic reticulum membrane] (R-HSA-162703)	0.527	3
UniProt:Q8NBK3 SUMF1	1	SUMF1 [endoplasmic reticulum lumen] (R-HSA-1614316)	0.527	3

• About
  • What is Reactome ?
  • News
  • Team
  • Scientific Advisory Board
  • Funding
  • Editorial Calendar
  • Release Calendar
  • Statistics
  • Our Logo
  • License Agreement
  • Privacy Notice
  • Disclaimer
  • Digital Preservation
  • Contact us
• Content
  • Table of Contents
  • DOIs
  • Data Schema
  • Reactome Research Spotlight
  • ORCID Integration Project
  • COVID-19 Disease Pathways
• Docs
  • Userguide
  • Developer's Zone
  • Icon Info
  • Data Model
  • Curator Guide
  • Release Documentation
  • Computationally inferred events
  • FAQ
  • Linking to Us
  • Citing us
• Tools
  • Pathway Browser
  • Analyse gene list
  • Analyse gene expression
  • Species Comparison
  • Tissue Distribution
  • Analysis Service
  • Content Service
  • ReactomeFIViz
  • Advanced Data Search
  • Site Search
• Community
  • Contribute Pathway Knowledge
  • Icon Library
  • Outreach
  • Events
  • Publications
  • Partners
  • Contributors
  • Resources Guide
• Download

© 2025 Reactome

This website requires cookies and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our Privacy Notice. I agree, dismiss this banner Cite Us! Cite Us!

Cite Us!

Warning! Unable to extract citation. Please try again later.

Download As:

BibTeX RIS Text Download Close