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!
SLC4A4 T485S [plasma membrane]
Stable Identifier
R-HSA-5656220
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
Electrogenic sodium bicarbonate cotransporter 1, S4A4_HUMAN
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) (Homo sapiens)
Defective SLC4A4 does not cotransport Na+ with 3HCO3- (Homo sapiens)
SLC4A4 mutants [plasma membrane] (Homo sapiens)
SLC4A4 T485S [plasma membrane] (Homo sapiens)
External Reference Information
External Reference
UniProt:Q9Y6R1 SLC4A4
Gene Names
SLC4A4, NBC, NBC1, NBCE1
Chain
chain:1-1079
Reference Genes
BioGPS Gene:8671 SLC4A4
COSMIC (genes):SLC4A4 SLC4A4
CTD Gene:8671 SLC4A4
dbSNP Gene:8671 SLC4A4
ENSEMBL:ENSG00000080493 SLC4A4
HGNC:11030 SLC4A4
KEGG:hsa:8671 SLC4A4
Monarch:8671 SLC4A4
NCBI Gene:8671 SLC4A4
OMIM:603345 SLC4A4
UCSC:Q9Y6R1 SLC4A4
Reference Transcript
RefSeq:NM_001098484.2 SLC4A4
RefSeq:NM_003759.3 SLC4A4
Other Identifiers
11717820_a_at
11717821_a_at
11717822_a_at
11742188_a_at
11763519_a_at
1554027_PM_a_at
1554027_a_at
16967631
203908_PM_at
203908_at
210738_PM_s_at
210738_s_at
210739_PM_x_at
210739_x_at
211494_PM_s_at
211494_s_at
2730739
2730741
2730751
2730752
2730759
2730760
2730768
2730769
2730780
2730781
2730782
2730783
2730784
2730790
2730792
2730793
2730794
2730795
2730796
2730799
2730800
2730801
2730802
2730803
2730804
2730805
2730806
2730807
2730808
2730810
2730811
2730813
2730814
2730817
2730818
2730819
2730820
2730821
2730845
2730855
35285_at
35871_s_at
47208_r_at
8095585
8671
87069_at
A_14_P100967
A_14_P103730
A_14_P107050
A_14_P138558
A_23_P22205
A_32_P349145
A_32_P358887
GE54086
GO:0003013
GO:0005215
GO:0005452
GO:0005515
GO:0005886
GO:0006814
GO:0006820
GO:0008509
GO:0008510
GO:0009986
GO:0015293
GO:0015698
GO:0015701
GO:0016020
GO:0016323
GO:0016328
GO:0035725
GO:0036376
GO:0042391
GO:0042802
GO:0043226
GO:0045821
GO:0051453
GO:0055085
GO:0070062
GO:0098656
GO:0150104
HMNXSV003017848
Hs2.5462.2.A1_3p_a_at
Hs2.5462.2.A1_3p_s_at
ILMN_1734897
ILMN_2184556
PH_hs_0000563
TC04000396.hg
g3298567_3p_a_at
g4507024_3p_at
g8886014_3p_a_at
Participates
as a member of
SLC4A4 mutants [plasma membrane] (Homo sapiens)
Other forms of this molecule
SLC4A4 [plasma membrane]
SLC4A4 Q29* [plasma membrane]
SLC4A4 R510H [plasma membrane]
SLC4A4 L522P [plasma membrane]
SLC4A4 R298S [plasma membrane]
SLC4A4 S982Nfs*4 [plasma membrane]
SLC4A4 A799V [plasma membrane]
SLC4A4 W516* [plasma membrane]
SLC4A4 S427L [plasma membrane]
Modified Residues
Name
L-threonine 485 replaced with L-serine
Coordinate
485
PsiMod
L-serine residue [MOD:00025]
A protein modification that effectively converts a source amino acid residue to L-serine.
L-threonine removal [MOD:01647]
A protein modification that effectively removes or replaces an L-threonine.
Disease
Name
Identifier
Synonyms
renal tubular acidosis
DOID:14219
Cross References
Guide to Pharmacology - Targets
908
ENSEMBL
ENSP00000422400
,
ENSP00000264485
,
ENST00000351898
,
ENSP00000344272
,
ENST00000340595
,
ENST00000425175
,
ENSP00000307349
,
ENST00000264485
,
ENSP00000393557
,
ENSP00000497468
,
ENST00000649996
,
ENST00000512686
OpenTargets
ENSG00000080493
HPA
ENSG00000080493-SLC4A4
PRO
Q9Y6R1
Pharos - Targets
Q9Y6R1
GlyGen
Q9Y6R1
Orphanet
SLC4A4
HMDB Protein
HMDBP02966
PDB
6CAA
Interactors (1)
Accession
#Entities
Entities
Confidence Score
Evidence (IntAct)
UniProt:P22748 CA4
1
N-seryl-glycosylphosphatidylinositolethanolamine-CA4 [plasma membrane]
(R-HSA-1237024)
0.463
2
© 2025
Reactome
Cite Us!
Cite Us!
Cite Us!
Warning!
Unable to extract citation. Please try again later.
Download As:
BibTeX
RIS
Text