SLC14A1
Urea transporter 1
Also known as: HsT1341, JK, RACH1, RACH2, UT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13336
- Gene
- SLC14A1
- Ensembl
- ENSG00000141469
- Chromosome
- 18
- Canonical length
- 389 aa
- Protein class
- Blood group antigen proteins, Metabolic proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Plasma membrane
- Quaternary structure
- Homotrimer
OverviewNCBI Gene
The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]
Canonical amino-acid sequenceUniProt
389 residues, UniProt reviewed canonical sequence.
>Q13336|SLC14A1
1 MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK DKPVVLQFID
61 WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
121 LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
181 NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW
241 TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
301 FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY
361 KMPLSKVTYP EENRIFYLQA KKRMVESPLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SLC14A1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 9
- Mean surface accessibility (rSASA)
- 0.27
- Highest tissue expression
- 85 nTPM
Expression across tissuesHPA
Tissue
- urinary bladder: 85 nTPM
- prostate: 73 nTPM
- midbrain: 52 nTPM
- kidney: 46 nTPM
- basal ganglia: 46 nTPM
- blood vessel: 46 nTPM
Single-cell type
- astrocytes: 478 nCPM
- prostatic hillock cells: 325 nCPM
- urothelial cells: 313 nCPM
- medullary thymic epithelial cells: 286 nCPM
- papillary tip epithelial cells: 168 nCPM
- basal prostatic cells: 150 nCPM
Immune cell
- T-reg: 4.1 nTPM
- naive CD8 T-cell: 1.5 nTPM
- eosinophil: 1.2 nTPM
- memory CD4 T-cell: 0.9 nTPM
- memory CD8 T-cell: 0.9 nTPM
- NK-cell: 0.9 nTPM
Brain region
- thalamus: 256 nTPM
- midbrain: 254 nTPM
- medulla oblongata: 211 nTPM
- cerebellum: 207 nTPM
- white matter: 189 nTPM
- spinal cord: 183 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SLC14A1.
Disease | GeneticClinVar
5 pathogenic / likely-pathogenic of 73 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Jk-null variant
- SLC14A1-related disorder
- Malignant lymphoma, large B-cell, diffuse
- Jk-null variant, finnish type
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.5
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.01
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- establishment of localization in cell
- transmembrane transport
- urea transmembrane transport
- urea transport
Molecular functions
- urea channel activity
- urea transmembrane transporter activity
- water transmembrane transporter activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SLC14A1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SLC14A1 as an antibody target. Whether an autoantibody or antibody against SLC14A1 could matter depends on whether native SLC14A1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SLC14A1 is annotated at the cell surface, where native SLC14A1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SLC14A1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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