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O60721

- NCKX1_HUMAN

UniProt

O60721 - NCKX1_HUMAN

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Protein
Sodium/potassium/calcium exchanger 1
Gene
SLC24A1, KIAA0702, NCKX1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Critical component of the visual transduction cascade, controlling the calcium concentration of outer segments during light and darkness. Light causes a rapid lowering of cytosolic free calcium in the outer segment of both retinal rod and cone photoreceptors and the light-induced lowering of calcium is caused by extrusion via this protein which plays a key role in the process of light adaptation. Transports 1 Ca2+ and 1 K+ in exchange for 4 Na+.1 Publication

GO - Molecular functioni

  1. calcium, potassium:sodium antiporter activity Source: UniProtKB
  2. protein binding Source: IntAct
  3. symporter activity Source: UniProtKB-KW
Complete GO annotation...

GO - Biological processi

  1. calcium ion transport Source: UniProtKB
  2. ion transport Source: Reactome
  3. phototransduction, visible light Source: Reactome
  4. response to light intensity Source: UniProtKB
  5. rhodopsin mediated signaling pathway Source: Reactome
  6. sodium ion transmembrane transport Source: GOC
  7. transmembrane transport Source: Reactome
  8. transport Source: ProtInc
  9. visual perception Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Antiport, Calcium transport, Ion transport, Sensory transduction, Symport, Transport, Vision

Keywords - Ligandi

Calcium

Enzyme and pathway databases

ReactomeiREACT_163932. Activation of the phototransduction cascade.
REACT_19320. Sodium/Calcium exchangers.

Protein family/group databases

TCDBi2.A.19.4.9. the ca(2+):cation antiporter (caca) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Sodium/potassium/calcium exchanger 1
Alternative name(s):
Na(+)/K(+)/Ca(2+)-exchange protein 1
Retinal rod Na-Ca+K exchanger
Solute carrier family 24 member 1
Gene namesi
Name:SLC24A1
Synonyms:KIAA0702, NCKX1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:10975. SLC24A1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 452452Extracellular Reviewed prediction
Add
BLAST
Transmembranei453 – 47321Helical; Reviewed prediction
Add
BLAST
Topological domaini474 – 49724Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei498 – 51821Helical; Reviewed prediction
Add
BLAST
Topological domaini519 – 5224Extracellular Reviewed prediction
Transmembranei523 – 54321Helical; Reviewed prediction
Add
BLAST
Topological domaini544 – 56320Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei564 – 58421Helical; Reviewed prediction
Add
BLAST
Topological domaini585 – 5851Extracellular Reviewed prediction
Transmembranei586 – 60621Helical; Reviewed prediction
Add
BLAST
Topological domaini607 – 907301Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei908 – 92821Helical; Reviewed prediction
Add
BLAST
Topological domaini929 – 9357Extracellular Reviewed prediction
Transmembranei936 – 95621Helical; Reviewed prediction
Add
BLAST
Topological domaini957 – 97115Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei972 – 99221Helical; Reviewed prediction
Add
BLAST
Topological domaini993 – 101018Extracellular Reviewed prediction
Add
BLAST
Transmembranei1011 – 103121Helical; Reviewed prediction
Add
BLAST
Topological domaini1032 – 10398Cytoplasmic Reviewed prediction
Transmembranei1040 – 106021Helical; Reviewed prediction
Add
BLAST
Topological domaini1061 – 10688Extracellular Reviewed prediction
Transmembranei1069 – 108921Helical; Reviewed prediction
Add
BLAST
Topological domaini1090 – 109910Cytoplasmic Reviewed prediction

GO - Cellular componenti

  1. integral component of plasma membrane Source: ProtInc
  2. membrane Source: ProtInc
  3. outer membrane Source: UniProtKB
  4. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Night blindness, congenital stationary, 1D (CSNB1D) [MIM:613830]: An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Congenital stationary night blindness

Organism-specific databases

MIMi613830. phenotype.
Orphaneti215. Congenital stationary night blindness.
PharmGKBiPA35851.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 10991099Sodium/potassium/calcium exchanger 1
PRO_0000223303Add
BLAST
Signal peptidei1 – ?Not cleaved

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi290 – 2901N-linked (GlcNAc...) Reviewed prediction
Modified residuei658 – 6581Phosphoserine Reviewed prediction
Modified residuei724 – 7241Phosphothreonine1 Publication
Modified residuei726 – 7261Phosphothreonine1 Publication

Post-translational modificationi

The uncleaved signal sequence is required for efficient membrane targeting and proper membrane integration.

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO60721.
PaxDbiO60721.
PRIDEiO60721.

PTM databases

PhosphoSiteiO60721.

Expressioni

Tissue specificityi

Expressed in the retina, particularly in the inner segment, outer and inner nuclear layers, and ganglion cell layer.1 Publication

Gene expression databases

ArrayExpressiO60721.
BgeeiO60721.
CleanExiHS_SLC24A1.
GenevestigatoriO60721.

Organism-specific databases

HPAiHPA039370.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
NCK1P163333EBI-1753504,EBI-389883

Protein-protein interaction databases

BioGridi114624. 2 interactions.
IntActiO60721. 5 interactions.
STRINGi9606.ENSP00000261892.

Structurei

3D structure databases

ProteinModelPortaliO60721.
SMRiO60721. Positions 475-602, 909-1054.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati494 – 53441Alpha-1
Add
BLAST
Repeati979 – 101032Alpha-2
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi860 – 89031Poly-Glu
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG0530.
HOGENOMiHOG000231933.
HOVERGENiHBG104097.
InParanoidiO60721.
KOiK13749.
OMAiKGEYPPD.
PhylomeDBiO60721.
TreeFamiTF318759.

Family and domain databases

InterProiIPR004817. K-dep_Na/Ca-exchanger.
IPR004481. K/Na/Ca-exchanger.
IPR004837. NaCa_Exmemb.
[Graphical view]
PANTHERiPTHR10846. PTHR10846. 1 hit.
PfamiPF01699. Na_Ca_ex. 2 hits.
[Graphical view]
TIGRFAMsiTIGR00927. 2A1904. 1 hit.
TIGR00367. TIGR00367. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60721-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MGKLIRMGPQ ERWLLRTKRL HWSRLLFLLG MLIIGSTYQH LRRPRGLSSL     50
WAAVSSHQPI KLASRDLSSE EMMMMSSSPS KPSSEMGGKM LVPQASVGSD 100
EATLSMTVEN IPSMPKRTAK MIPTTTKNNY SPTAAGTERR KEDTPTSSRT 150
LTYYTSTSSR QIVKKYTPTP RGEMKSYSPT QVREKVKYTP SPRGRRVGTY 200
VPSTFMTMET SHAITPRTTV KDSDITATYK ILETNSLKRI MEETTPTTLK 250
GMFDSTPTFL THEVEANVLT SPRSVMEKNN LFPPRRVESN SSAHPWGLVG 300
KSNPKTPQGT VLLHTPATSE GQVTISTMTG SSPAETKAFT AAWSLRNPSP 350
RTSVSAIKTA PAIVWRLAKK PSTAPSTSTT PTVRAKLTMQ VHHCVVVKPT 400
PAMLTTPSPS LTTALLPEEL SPSPSVLPPS LPDLHPKGEY PPDLFSVEER 450
RQGWVVLHVF GMMYVFVALA IVCDEYFVPA LGVITDKLQI SEDVAGATFM 500
AAGGSAPELF TSLIGVFISH SNVGIGTIVG SAVFNILFVI GTCSLFSREI 550
LNLTWWPLFR DVSFYILDLI MLILFFLDSL IAWWESLLLL LAYAFYVFTM 600
KWNKHIEVWV KEQLSRRPVA KVMALEDLSK PGDGAIAVDE LQDNKKLKLP 650
SLLTRGSSST SLHNSTIRST IYQLMLHSLD PLREVRLAKE KEEESLNQGA 700
RAQPQAKAES KPEEEEPAKL PAVTVTPAPV PDIKGDQKEN PGGQEDVAEA 750
ESTGEMPGEE GETAGEGETE EKSGGETQPE GEGETETQGK GEECEDENEA 800
EGKGDNEGED EGEIHAEDGE MKGNEGETES QELSAENHGE AKNDEKGVED 850
GGGSDGGDSE EEEEEEEEQE EEEEEEEQEE EEEEEEEEEE KGNEEPLSLD 900
WPETRQKQAI YLFLLPIVFP LWLTVPDVRR QESRKFFVFT FLGSIMWIAM 950
FSYLMVWWAH QVGETIGISE EIMGLTILAA GTSIPDLITS VIVARKGLGD 1000
MAVSSSVGSN IFDITVGLPV PWLLFSLING LQPVPVSSNG LFCAIVLLFL 1050
MLLFVISSIA SCKWRMNKIL GFTMFLLYFV FLIISVMLED RIISCPVSV 1099
Length:1,099
Mass (Da):121,374
Last modified:August 1, 1998 - v1
Checksum:i3911856BB088B5FD
GO
Isoform 2 (identifier: O60721-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     631-648: Missing.

Note: No experimental confirmation available.

Show »
Length:1,081
Mass (Da):119,481
Checksum:iA72589F54E4C05B3
GO
Isoform 3 (identifier: O60721-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     932-961: Missing.

Note: No experimental confirmation available.

Show »
Length:1,069
Mass (Da):117,632
Checksum:iBC2036012DF4E930
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti37 – 371T → S.
Corresponds to variant rs3743171 [ dbSNP | Ensembl ].
VAR_050221
Natural varianti311 – 3111V → L.
Corresponds to variant rs34363823 [ dbSNP | Ensembl ].
VAR_050222
Natural varianti313 – 3131L → V.
Corresponds to variant rs35571449 [ dbSNP | Ensembl ].
VAR_050223

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei631 – 64818Missing in isoform 2.
VSP_006160Add
BLAST
Alternative sequencei932 – 96130Missing in isoform 3.
VSP_054491Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti516 – 5161V → I in AAB97832. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF062921 mRNA. Translation: AAC16732.1.
AF062922 mRNA. Translation: AAC77912.1.
AF026132 mRNA. Translation: AAB97832.1.
AC011939 Genomic DNA. No translation available.
AC027220 Genomic DNA. No translation available.
BC117263 mRNA. Translation: AAI17264.1.
BC143375 mRNA. Translation: AAI43376.1.
AB014602 mRNA. Translation: BAA31677.2. Sequence problems.
CCDSiCCDS45284.1. [O60721-1]
RefSeqiNP_004718.1. NM_004727.2. [O60721-1]
XP_005254835.1. XM_005254778.2. [O60721-1]
XP_005254836.1. XM_005254779.2. [O60721-2]
XP_006720827.1. XM_006720764.1. [O60721-1]
XP_006720828.1. XM_006720765.1. [O60721-1]
XP_006720829.1. XM_006720766.1. [O60721-3]
UniGeneiHs.173092.

Genome annotation databases

EnsembliENST00000261892; ENSP00000261892; ENSG00000074621. [O60721-1]
ENST00000339868; ENSP00000341837; ENSG00000074621. [O60721-2]
ENST00000399033; ENSP00000381991; ENSG00000074621.
ENST00000546330; ENSP00000439190; ENSG00000074621. [O60721-2]
GeneIDi9187.
KEGGihsa:9187.
UCSCiuc010ujf.2. human. [O60721-1]
uc010ujh.2. human. [O60721-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF062921 mRNA. Translation: AAC16732.1 .
AF062922 mRNA. Translation: AAC77912.1 .
AF026132 mRNA. Translation: AAB97832.1 .
AC011939 Genomic DNA. No translation available.
AC027220 Genomic DNA. No translation available.
BC117263 mRNA. Translation: AAI17264.1 .
BC143375 mRNA. Translation: AAI43376.1 .
AB014602 mRNA. Translation: BAA31677.2 . Sequence problems.
CCDSi CCDS45284.1. [O60721-1 ]
RefSeqi NP_004718.1. NM_004727.2. [O60721-1 ]
XP_005254835.1. XM_005254778.2. [O60721-1 ]
XP_005254836.1. XM_005254779.2. [O60721-2 ]
XP_006720827.1. XM_006720764.1. [O60721-1 ]
XP_006720828.1. XM_006720765.1. [O60721-1 ]
XP_006720829.1. XM_006720766.1. [O60721-3 ]
UniGenei Hs.173092.

3D structure databases

ProteinModelPortali O60721.
SMRi O60721. Positions 475-602, 909-1054.
ModBasei Search...

Protein-protein interaction databases

BioGridi 114624. 2 interactions.
IntActi O60721. 5 interactions.
STRINGi 9606.ENSP00000261892.

Protein family/group databases

TCDBi 2.A.19.4.9. the ca(2+):cation antiporter (caca) family.

PTM databases

PhosphoSitei O60721.

Proteomic databases

MaxQBi O60721.
PaxDbi O60721.
PRIDEi O60721.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000261892 ; ENSP00000261892 ; ENSG00000074621 . [O60721-1 ]
ENST00000339868 ; ENSP00000341837 ; ENSG00000074621 . [O60721-2 ]
ENST00000399033 ; ENSP00000381991 ; ENSG00000074621 .
ENST00000546330 ; ENSP00000439190 ; ENSG00000074621 . [O60721-2 ]
GeneIDi 9187.
KEGGi hsa:9187.
UCSCi uc010ujf.2. human. [O60721-1 ]
uc010ujh.2. human. [O60721-2 ]

Organism-specific databases

CTDi 9187.
GeneCardsi GC15P065914.
HGNCi HGNC:10975. SLC24A1.
HPAi HPA039370.
MIMi 603617. gene.
613830. phenotype.
neXtProti NX_O60721.
Orphaneti 215. Congenital stationary night blindness.
PharmGKBi PA35851.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0530.
HOGENOMi HOG000231933.
HOVERGENi HBG104097.
InParanoidi O60721.
KOi K13749.
OMAi KGEYPPD.
PhylomeDBi O60721.
TreeFami TF318759.

Enzyme and pathway databases

Reactomei REACT_163932. Activation of the phototransduction cascade.
REACT_19320. Sodium/Calcium exchangers.

Miscellaneous databases

GenomeRNAii 9187.
NextBioi 34449.
PROi O60721.
SOURCEi Search...

Gene expression databases

ArrayExpressi O60721.
Bgeei O60721.
CleanExi HS_SLC24A1.
Genevestigatori O60721.

Family and domain databases

InterProi IPR004817. K-dep_Na/Ca-exchanger.
IPR004481. K/Na/Ca-exchanger.
IPR004837. NaCa_Exmemb.
[Graphical view ]
PANTHERi PTHR10846. PTHR10846. 1 hit.
Pfami PF01699. Na_Ca_ex. 2 hits.
[Graphical view ]
TIGRFAMsi TIGR00927. 2A1904. 1 hit.
TIGR00367. TIGR00367. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Chromosomal localization and genomic organization of the human retinal rod Na-Ca+K exchanger."
    Tucker J.E., Winkfein R.J., Murthy S.K., Friedman J.S., Walter M.A., Demetrick D.J., Schnetkamp P.P.M.
    Hum. Genet. 103:411-414(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Retina.
  2. "cDNA cloning of the human retinal rod Na-Ca + K exchanger: comparison with a revised bovine sequence."
    Tucker J.E., Winkfein R.J., Cooper C.B., Schnetkamp P.P.M.
    Invest. Ophthalmol. Vis. Sci. 39:435-440(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    Tissue: Retina.
  3. "Analysis of the DNA sequence and duplication history of human chromosome 15."
    Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A.
    , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
    Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Heart and Lung.
  5. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1003 (ISOFORM 2).
    Tissue: Brain.
  6. "The retinal rod Na(+)/Ca(2+),K(+) exchanger contains a noncleaved signal sequence required for translocation of the N-terminus."
    McKiernan C.J., Friedlander M.
    J. Biol. Chem. 274:38177-38182(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION OF THE N-TERMINUS IN TARGETING.
  7. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-724 AND THR-726, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  8. Cited for: TISSUE SPECIFICITY, INVOLVEMENT IN CSNB1D.

Entry informationi

Entry nameiNCKX1_HUMAN
AccessioniPrimary (citable) accession number: O60721
Secondary accession number(s): O43485, O75184, Q17RM9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 13, 2001
Last sequence update: August 1, 1998
Last modified: September 3, 2014
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi