Cell atlas - SLC12A1 - The Human Protein Atlas

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SLC12A1

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TISSUE

CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION

GENE/PROTEIN

Dictionary

Human cell

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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
Summary
RNA cell category	Cell line enriched (RPTEC TERT1)
Protein evidence	Evidence at protein level
Main location	Not available

DATA RELIABILITY
Reliability score	Pending cell analysis.

ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enriched (RPTEC TERT1) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

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 83.38)
Entrez gene	6557
UniProt	Q13621 (UniProt - Evidence at protein level)
neXtProt	NX_Q13621
Antibodypedia	SLC12A1 antibodies

PROTEIN BROWSER

SLC12A1-001	SLC12A1-002	SLC12A1-005	SLC12A1-006	SLC12A1-009	SLC12A1-011	SLC12A1-012	SLC12A1-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
SLC12A1-001 ENSP00000379822 ENST00000396577	Q13621 [Direct mapping] Solute carrier family 12 member 1 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001822 [kidney development] GO:0005515 [protein binding] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006810 [transport] GO:0006811 [ion transport] GO:0006813 [potassium ion transport] GO:0006814 [sodium ion transport] GO:0006821 [chloride transport] GO:0006884 [cell volume homeostasis] GO:0007588 [excretion] GO:0008511 [sodium:potassium:chloride symporter activity] GO:0009986 [cell surface] GO:0010107 [potassium ion import] GO:0015081 [sodium ion transmembrane transporter activity] GO:0015377 [cation:chloride symporter activity] GO:0015378 [sodium:chloride symporter activity] GO:0015379 [potassium:chloride symporter activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016101 [diterpenoid metabolic process] GO:0016324 [apical plasma membrane] GO:0022820 [potassium ion symporter activity] GO:0032978 [protein insertion into membrane from inner side] GO:0034220 [ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0048878 [chemical homeostasis] GO:0055064 [chloride ion homeostasis] GO:0055075 [potassium ion homeostasis] GO:0055078 [sodium ion homeostasis] GO:0055085 [transmembrane transport] GO:0070062 [extracellular exosome] GO:0070886 [positive regulation of calcineurin-NFAT signaling cascade] GO:0071475 [cellular hyperosmotic salinity response] GO:1902476 [chloride transmembrane transport] Show all	1099 aa 121.4 kDa	No	>9
SLC12A1-002 ENSP00000331550 ENST00000330289	Q8IUN5 [Direct mapping] SLC12A1 protein; Solute carrier family 12 member 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 6TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005215 [transporter activity] GO:0006810 [transport] GO:0006811 [ion transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	430 aa 46.5 kDa	No	6
SLC12A1-005 ENSP00000453230 ENST00000559641	H0YLJ2 [Direct mapping] Solute carrier family 12 member 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 9TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0006810 [transport] GO:0006811 [ion transport] GO:0015377 [cation:chloride symporter activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport] Show all	648 aa 70.4 kDa	No	9
SLC12A1-006 ENSP00000453409 ENST00000558405	Q13621 [Direct mapping] Solute carrier family 12 member 1 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Ezkurdia et al 2014) Show all	GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006810 [transport] GO:0006811 [ion transport] GO:0006884 [cell volume homeostasis] GO:0010107 [potassium ion import] GO:0015081 [sodium ion transmembrane transporter activity] GO:0015377 [cation:chloride symporter activity] GO:0015378 [sodium:chloride symporter activity] GO:0015379 [potassium:chloride symporter activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0022820 [potassium ion symporter activity] GO:0034220 [ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0055064 [chloride ion homeostasis] GO:0055075 [potassium ion homeostasis] GO:0055078 [sodium ion homeostasis] GO:0055085 [transmembrane transport] GO:0070062 [extracellular exosome] GO:1902476 [chloride transmembrane transport] Show all	1099 aa 121.4 kDa	No	>9
SLC12A1-009 ENSP00000453602 ENST00000561127	H0YMG9 [Direct mapping] Solute carrier family 12 member 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005215 [transporter activity] GO:0006810 [transport] GO:0006811 [ion transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	113 aa 11.8 kDa	No	1
SLC12A1-011 ENSP00000454178 ENST00000561031	H0YNW0 [Direct mapping] Solute carrier family 12 member 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005215 [transporter activity] GO:0006811 [ion transport] GO:0016020 [membrane] GO:0055085 [transmembrane transport] Show all	217 aa 24.3 kDa	No	1
SLC12A1-012 ENSP00000454054 ENST00000558805	H0YNL0 [Direct mapping] Solute carrier family 12 member 1 Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 3TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005215 [transporter activity] GO:0006810 [transport] GO:0006811 [ion transport] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	103 aa 10.9 kDa	No	3
SLC12A1-201 ENSP00000370381 ENST00000380993	Q13621 [Direct mapping] Solute carrier family 12 member 1 Show all	Transporters Electrochemical Potential-driven transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based >9TM proteins predicted by MDM Disease related genes FDA approved drug targets Small molecule drugs Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006810 [transport] GO:0006811 [ion transport] GO:0006884 [cell volume homeostasis] GO:0010107 [potassium ion import] GO:0015081 [sodium ion transmembrane transporter activity] GO:0015377 [cation:chloride symporter activity] GO:0015378 [sodium:chloride symporter activity] GO:0015379 [potassium:chloride symporter activity] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016324 [apical plasma membrane] GO:0022820 [potassium ion symporter activity] GO:0034220 [ion transmembrane transport] GO:0035725 [sodium ion transmembrane transport] GO:0055064 [chloride ion homeostasis] GO:0055075 [potassium ion homeostasis] GO:0055078 [sodium ion homeostasis] GO:0055085 [transmembrane transport] GO:0070062 [extracellular exosome] GO:1902476 [chloride transmembrane transport] Show all	1099 aa 121.4 kDa	No	>9

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.