SLC12A1

GENERAL INFORMATION

? »

Gene name

SLC12A1

Gene description

Solute carrier family 12 (sodium/potassium/chloride transporter), member 1

Protein class

Disease related genes
FDA approved drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

8
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enriched (kidney)
GTEx:Tissue enriched (kidney)

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression in a subset of renal tubules.

ANTIBODY RELIABILITY

? »

Data reliability
description

Antibody staining consistent with RNA expression data.

Data reliability

Supportive based on 2 antibodies.
HPA014967 , HPA018107
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (kidney)

Organ

Expression



GENE INFORMATION

? »

Gene name

SLC12A1 (HGNC Symbol)

Synonyms

NKCC2

Description

Solute carrier family 12 (sodium/potassium/chloride transporter), member 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010]

Chromosome

15

Cytoband

q21.1

Chromosome location (bp)

48191664 - 48304078

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000074803 (version 78.38)

Entrez gene

6557

UniProt

Q13621 (UniProt - Evidence at protein level)

neXtProt

NX_Q13621

Antibodypedia

SLC12A1 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000330289
 
ENST00000380993
 
ENST00000396577
 
ENST00000558405
 
ENST00000558805
 
ENST00000559641
 
ENST00000561031
 
ENST00000561127
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SLC12A1-001 ENSP00000379822
ENST00000396577
Q13621
Show all »
Show » Show » 1099 121.4 No >9
SLC12A1-002 ENSP00000331550
ENST00000330289
Q8IUN5
Show all »
Show » Show » 430 46.5 No 6
SLC12A1-005 ENSP00000453230
ENST00000559641
H0YLJ2
Show all »
Show » Show » 648 70.4 No 9
SLC12A1-006 ENSP00000453409
ENST00000558405
Q13621
Show all »
Show » Show » 1099 121.4 No >9
SLC12A1-009 ENSP00000453602
ENST00000561127
O76029
Show all »
Show » Show » 113 11.8 No 1
SLC12A1-011 ENSP00000454178
ENST00000561031
H0YNW0
Show all »
Show » Show » 217 24.3 No 1
SLC12A1-012 ENSP00000454054
ENST00000558805
Show » Show » 103 10.9 No 3
SLC12A1-201 ENSP00000370381
ENST00000380993
Q13621
Show all »
Show » Show » 1099 121.4 No >9