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!
SLC27A4 S247P [plasma membrane]
Stable Identifier
R-HSA-5627907
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
FATP4, Long-chain fatty acid transport protein 4, S27A4_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC27A4 causes ichthyosis prematurity syndrome (IPS) (Homo sapiens)
Defective SLC27A4 does not transport LCFAs from extracellular region to cytosol (Homo sapiens)
SLC27A4 mutants [plasma membrane] (Homo sapiens)
SLC27A4 S247P [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q6P1M0 SLC27A4
Gene Names
SLC27A4, ACSVL4, FATP4
Chain
chain:1-643
Reference Genes
BioGPS Gene:10999 SLC27A4
COSMIC (genes):SLC27A4 SLC27A4
CTD Gene:10999 SLC27A4
dbSNP Gene:10999 SLC27A4
ENSEMBL:ENSG00000167114 SLC27A4
ENSEMBL_homo_sapiens_GENE:ENSG00000167114.13 SLC27A4
HGNC:10998 SLC27A4
KEGG Gene (Homo sapiens):10999 SLC27A4
Monarch:10999 SLC27A4
NCBI Gene:10999 SLC27A4
OMIM:604194 SLC27A4
UCSC:Q6P1M0 SLC27A4
Reference Transcript
RefSeq:XM_017014222.1 SLC27A4
RefSeq:NM_005094.3 SLC27A4
Other Identifiers
10999
11745047_a_at
17089606
225779_PM_at
225779_at
3190367
3190368
3190369
3190370
3190371
3190372
3190373
3190374
3190375
3190376
3190377
3190378
3190380
3190382
3190383
3190384
3190385
61357_at
8158224
A_14_P120344
A_24_P257971
GE62244
GO:0000038
GO:0000166
GO:0001579
GO:0001676
GO:0003013
GO:0003824
GO:0004467
GO:0005215
GO:0005324
GO:0005515
GO:0005783
GO:0005789
GO:0005886
GO:0005902
GO:0006629
GO:0006631
GO:0006869
GO:0007584
GO:0012501
GO:0015245
GO:0015908
GO:0015909
GO:0016020
GO:0016874
GO:0023052
GO:0031526
GO:0031957
GO:0042760
GO:0043065
GO:0043226
GO:0043588
GO:0044381
GO:0044539
GO:0046627
GO:0047676
GO:0048856
GO:0051649
GO:0055085
GO:0090433
GO:0090434
GO:0090630
GO:0140657
GO:0150104
GO:1901480
GO:1990379
HMNXSV003041324
Hs.248953.0.S2_3p_at
Hs.248953.0.S2_3p_x_at
ILMN_1655039
PH_hs_0025019
TC09000686.hg
Participates
as a member of
SLC27A4 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC27A4 A92T [plasma membrane]
SLC27A4 R583H [plasma membrane]
SLC27A4 Q300R [plasma membrane]
SLC27A4 C168* [plasma membrane]
SLC27A4 [plasma membrane]
Modified Residues
Name
L-serine 247 replaced with L-proline
Coordinate
247
PsiMod
L-serine removal [MOD:01646]
A protein modification that effectively removes or replaces an L-serine.
L-proline residue [MOD:00024]
A protein modification that effectively converts a source amino acid residue to L-proline.
Disease
Name
Identifier
Synonyms
autosomal recessive disease
DOID:0050737
Cross References
RefSeq
NP_005085.2
,
XP_016869711.1
Guide to Pharmacology - Targets
1111
OpenTargets
ENSG00000167114
ZINC - Substances
S27A4_HUMAN
ZINC target
Q6P1M0
PRO
Q6P1M0
IntEnz
6.2.1.3
GeneCards
Q6P1M0
HPA
ENSG00000167114-SLC27A4
Ensembl
ENST00000372870
,
ENSG00000167114
,
ENST00000300456
,
ENSP00000361961
,
ENSP00000300456
Pharos - Targets
Q6P1M0
ZINC - Predictions - Purchasable
S27A4_HUMAN
Orphanet
18599
HMDB Protein
HMDBP06873
Interactors (2)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:Q16659 MAPK6 gene
6
ub-MAPK6 [cytosol]
(R-HSA-5687000)
MAPK6 [cytosol]
(R-HSA-5686979)
p-S189 MAPK6 [cytosol]
(R-HSA-5687019)
p-S189 MAPK6 [nucleoplasm]
(R-HSA-5687015)
MAPK6 [nucleoplasm]
(R-HSA-5692686)
p-3S,T MAPK6 [nucleoplasm]
(R-HSA-5692665)
0.527
2
UniProt:P13569 CFTR
17
PolyUb-CFTR [clathrin-coated endocytic vesicle membrane]
(R-HSA-8869104)
PolyUb-CFTR [plasma membrane]
(R-HSA-8867595)
CFTR [lysosomal membrane]
(R-HSA-5627279)
CFTR [Golgi-associated vesicle membrane]
(R-HSA-5627079)
CFTR [endosome membrane]
(R-HSA-6782965)
PolyUb-CFTR [endosome membrane]
(R-HSA-6782976)
CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866834)
ub-CFTR F508del [cytosol]
(R-HSA-8866838)
ub-CFTR F508del [endoplasmic reticulum membrane]
(R-HSA-8866842)
CFTR G542* [plasma membrane]
(R-HSA-5678986)
CFTR G551D [plasma membrane]
(R-HSA-5678977)
CFTR W1282* [plasma membrane]
(R-HSA-5678976)
CFTR F508del [plasma membrane]
(R-HSA-5678978)
CFTR N1303K [plasma membrane]
(R-HSA-5678983)
CFTR [plasma membrane]
(R-HSA-383188)
CFTR [endoplasmic reticulum membrane]
(R-HSA-8866837)
misfolded CFTR [endoplasmic reticulum membrane]
(R-HSA-8868730)
0.483
8
© 2024
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text