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SLC24A1

GENERAL INFORMATION

Gene name

 SLC24A1

Gene description

 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1

Protein class

 Disease related genes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

 Intracellular,Membrane

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Tissue enriched (retina)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in retina, mainly in photoreceptor cells.

DATA RELIABILITY

Data reliability
description

 External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Supported based on 1 antibody.
HPA039370
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Eye
N/A
Retina
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Retina

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical
Cerebral cortexHippocampusCaudateCerebellumThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleNasopharynxBronchusLungLiverGallbladderPancreasOral mucosaSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSoft tissueSkinRetinaNotdetectedLowMediumHighSCORE

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
Cerebral cortexThyroid glandParathyroid glandAdrenal glandAppendixBone marrowLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusStomachDuodenumSmall intestineColonRectumKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastCervix, uterineEndometriumFallopian tubeOvaryPlacentaAdipose tissueSkin0246810TPM
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
HypothalamusPituitary glandCerebral cortexHippocampusCaudateCerebellumThyroid glandAdrenal glandSpleenHeart muscleSkeletal muscleLungLiverPancreasSalivary glandEsophagusStomachSmall intestineColonKidneyUrinary bladderTestisProstateBreastVaginaCervix, uterineEndometriumFallopian tubeOvaryAdipose tissueSkin0246810RPKM
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (retina)
Pituitary glandBrainHippocampusCaudateCerebellumThyroid glandAppendixLymph nodeTonsilSpleenHeart muscleSkeletal muscleSmooth muscleLungLiverGallbladderPancreasSalivary glandEsophagusSmall intestineColonKidneyUrinary bladderTestisEpididymisProstateSeminal vesicleBreastVaginaCervix, uterineEndometriumOvaryPlacentaAdipose tissueRetina050100150200Tags Per Million

GENE INFORMATION

Gene name

 SLC24A1 (HGNC Symbol)

Synonyms

 CSNB1D, HsT17412, KIAA0702, NCKX, NCKX1, RODX

Description

 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the potassium-dependent sodium/calcium exchanger protein family. The encoded protein plays an important role in sodium/calcium exchange in retinal rod and cone photoreceptors by mediating the extrusion of one calcium ion and one potassium ion in exchange for four sodium ions. Mutations in this gene may play a role in congenital stationary night blindness. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Chromosome

 15

Cytoband

 q22.31

Chromosome location (bp)

 65611366 - 65660995

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000074621 (version 83.38)

Entrez gene

 9187

UniProt

 O60721 (UniProt - Evidence at protein level)

neXtProt

 NX_O60721

Antibodypedia

 SLC24A1 antibodies

PROTEIN BROWSER
SLC24A1-001
SLC24A1-002
SLC24A1-004
SLC24A1-005
SLC24A1-007
SLC24A1-011
SLC24A1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SLC24A1-001
ENSP00000261892
ENST00000261892
O60721 [Direct mapping]
Sodium/potassium/calcium exchanger 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
   8TM proteins predicted by MDM
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0005262 [calcium channel activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0007601 [visual perception]
GO:0007603 [phototransduction, visible light]
GO:0008273 [calcium, potassium:sodium antiporter activity]
GO:0009642 [response to light intensity]
GO:0015293 [symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016056 [rhodopsin mediated signaling pathway]
GO:0019867 [outer membrane]
GO:0030955 [potassium ion binding]
GO:0031402 [sodium ion binding]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
Show all
 1099 aa
121.4 kDa 		No 8
SLC24A1-002
ENSP00000439693
ENST00000537259
F5H127 [Direct mapping]
Sodium/potassium/calcium exchanger 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
Show all
GO:0006816 [calcium ion transport]
GO:0007601 [visual perception]
GO:0008273 [calcium, potassium:sodium antiporter activity]
GO:0016021 [integral component of membrane]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 1012 aa
111.6 kDa 		No 6
SLC24A1-004
ENSP00000381991
ENST00000399033
O60721 [Direct mapping]
Sodium/potassium/calcium exchanger 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
Potential drug targets
Show all
GO:0005262 [calcium channel activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0007601 [visual perception]
GO:0007603 [phototransduction, visible light]
GO:0008273 [calcium, potassium:sodium antiporter activity]
GO:0009642 [response to light intensity]
GO:0015293 [symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016056 [rhodopsin mediated signaling pathway]
GO:0019867 [outer membrane]
GO:0030955 [potassium ion binding]
GO:0031402 [sodium ion binding]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
Show all
 1069 aa
117.6 kDa 		No 9
SLC24A1-005
ENSP00000439190
ENST00000546330
O60721 [Direct mapping]
Sodium/potassium/calcium exchanger 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
   8TM proteins predicted by MDM
Disease related genes
Potential drug targets
Show all
GO:0005262 [calcium channel activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0007601 [visual perception]
GO:0007603 [phototransduction, visible light]
GO:0008273 [calcium, potassium:sodium antiporter activity]
GO:0009642 [response to light intensity]
GO:0015293 [symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016056 [rhodopsin mediated signaling pathway]
GO:0019867 [outer membrane]
GO:0030955 [potassium ion binding]
GO:0031402 [sodium ion binding]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
Show all
 1081 aa
119.5 kDa 		No 8
SLC24A1-007
ENSP00000445163
ENST00000544319
F5H483 [Direct mapping]
Sodium/potassium/calcium exchanger 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
Show all
GO:0006816 [calcium ion transport]
GO:0007601 [visual perception]
GO:0008273 [calcium, potassium:sodium antiporter activity]
GO:0016021 [integral component of membrane]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
Show all
 985 aa
109.1 kDa 		No 9
SLC24A1-011
ENSP00000445577
ENST00000505666
H0YH06 [Direct mapping]
Sodium/potassium/calcium exchanger 1
Show all
   MEMSAT3 predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Show all
 56 aa
5.7 kDa 		No 0
SLC24A1-201
ENSP00000341837
ENST00000339868
O60721 [Direct mapping]
Sodium/potassium/calcium exchanger 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
Potential drug targets
Show all
GO:0005262 [calcium channel activity]
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005887 [integral component of plasma membrane]
GO:0006810 [transport]
GO:0006811 [ion transport]
GO:0006816 [calcium ion transport]
GO:0006874 [cellular calcium ion homeostasis]
GO:0007601 [visual perception]
GO:0007603 [phototransduction, visible light]
GO:0008273 [calcium, potassium:sodium antiporter activity]
GO:0009642 [response to light intensity]
GO:0015293 [symporter activity]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016056 [rhodopsin mediated signaling pathway]
GO:0019867 [outer membrane]
GO:0030955 [potassium ion binding]
GO:0031402 [sodium ion binding]
GO:0035725 [sodium ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0070588 [calcium ion transmembrane transport]
Show all
 1069 aa
117.6 kDa 		No >9

Contact

The Project

The Human Protein Atlas

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