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!
HLCS G581S [cytosol]
Stable Identifier
R-HSA-3325506
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
cytosol
Synonyms
Biotin--protein ligase ecNumber6.3.4.-/ecNumber, BPL1_HUMAN, HLCS
Icon
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in biotin (Btn) metabolism (Homo sapiens)
Defective HLCS causes multiple carboxylase deficiency (Homo sapiens)
Defective HLCS does not biotinylate 6x(PCCA:PCCB) (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
HLCS G581S [cytosol] (Homo sapiens)
Defective HLCS does not biotinylate 6xMCCC1:6xMCCC2 (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
HLCS G581S [cytosol] (Homo sapiens)
Defective HLCS does not biotinylate ACACA:Mn2+ (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
HLCS G581S [cytosol] (Homo sapiens)
Defective HLCS does not biotinylate PC:Mn2+ (Homo sapiens)
HLCS mutants [cytosol] (Homo sapiens)
HLCS G581S [cytosol] (Homo sapiens)
External Reference Information
External Reference
UniProt:P50747 HLCS
Gene Names
HLCS
Chain
chain:1-726
Reference Genes
BioGPS Gene:3141 HLCS
COSMIC (genes):HLCS HLCS
CTD Gene:3141 HLCS
dbSNP Gene:3141 HLCS
ENSEMBL:ENSG00000159267 HLCS
HGNC:4976 HLCS
Monarch:3141 HLCS
NCBI Gene:3141 HLCS
OMIM:609018 HLCS
UCSC:P50747 HLCS
Reference Transcript
RefSeq:XM_006723995.1 HLCS
RefSeq:XM_011529539.2 HLCS
RefSeq:NM_001242784.1 HLCS
RefSeq:XM_017028330.1 HLCS
RefSeq:XM_005260956.3 HLCS
RefSeq:XM_011529538.1 HLCS
RefSeq:XM_011529541.2 HLCS
RefSeq:XM_005260955.3 HLCS
RefSeq:NM_000411.6 HLCS
RefSeq:XM_006723994.2 HLCS
RefSeq:NM_001242785.1 HLCS
Other Identifiers
11737371_a_at
11744447_a_at
11748723_a_at
16925466
207833_PM_s_at
207833_s_at
209399_PM_at
209399_at
3141
37764_at
3931108
3931109
3931111
3931113
3931114
3931115
3931116
3931117
3931118
3931119
3931121
3931122
3931128
3931132
3931178
3931179
3931191
3931193
3931194
3931195
3931196
3931197
3931199
3931200
3931201
3931206
3931207
3931209
3931210
3931214
3931215
3931216
3931221
3931222
3931225
8070239
A_23_P304991
D87328_at
GE80913
GO:0000785
GO:0003824
GO:0004077
GO:0005515
GO:0005524
GO:0005652
GO:0005737
GO:0005739
GO:0005829
GO:0006766
GO:0006768
GO:0006790
GO:0009374
GO:0016363
GO:0016874
GO:0019899
GO:0036211
GO:0042802
GO:0043226
GO:0043687
GO:0070781
GO:0140096
HMNXSV003007110
HMNXSV003010234
HMNXSV003020280
ILMN_1792669
ILMN_2191402
PH_hs_0024180
TC21000436.hg
TC21000957.hg
g1813423_3p_at
g4504418_3p_a_at
Participates
as a member of
HLCS mutants [cytosol] (Homo sapiens)
Other forms of this molecule
HLCS R508W [cytosol]
HLCS G261Vfs*20 [cytosol]
HLCS V550M [cytosol]
HLCS L237P [cytosol]
HLCS D571N [cytosol]
HLCS L216R [cytosol]
HLCS [cytosol]
Modified Residues
Name
glycine 581 replaced with L-serine
Coordinate
581
PsiMod
glycine removal [MOD:01638]
A protein modification that effectively removes or replaces an glycine.
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
Disease
Name
Identifier
Synonyms
vitamin metabolic disorder
DOID:0050718
Cross References
ENSEMBL
ENSP00000502087
,
ENSP00000479939
,
ENST00000675307
,
ENST00000612277
,
ENSP00000382071
,
ENST00000674895
,
ENSP00000338387
,
ENSP00000501750
,
ENST00000399120
,
ENST00000336648
OpenTargets
ENSG00000159267
IntEnz
6.3.4.10
,
6.3.4.11
,
6.3.4.9
HPA
ENSG00000159267-HLCS
ZINC - Substances
BPL1_HUMAN
ZINC target
P50747
PRO
P50747
Pharos - Targets
P50747
Orphanet
HLCS
ZINC - Predictions - Purchasable
BPL1_HUMAN
HMDB Protein
HMDBP00509
Interactors (8)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q5T0L3 SPT46
0.742
6
UniProt:O00763 ACACB
4
ACACB [mitochondrial outer membrane]
(R-HSA-4167505)
Btn-ACACB [mitochondrial outer membrane]
(R-HSA-2993858)
ACACB [cytosol]
(R-HSA-52493)
Btn-p-S222-ACACB [mitochondrial outer membrane]
(R-HSA-8876892)
0.618
4
UniProt:Q86XM0 CATSPERD
1
CATSPERD [plasma membrane]
(R-HSA-2534366)
0.589
2
UniProt:Q8N6D5 ANR29
0.556
3
UniProt:P26371 KRTAP5-9
1
KRTAP5-9 [cytosol]
(R-HSA-6810265)
0.556
3
UniProt:A0JLT2-2 MED19
0.556
3
UniProt:Q7Z402 TMC7
0.527
2
UniProt:Q9NUX5 POT1
1
POT1 [nucleoplasm]
(R-HSA-174890)
0.508
2
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text