P32418 (NAC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 117.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Sodium/calcium exchanger 1 Alternative name(s): Na(+)/Ca(2+)-exchange protein 1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 973 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Rapidly transports Ca2+ during excitation-contraction coupling. Ca2+ is extruded from the cell during relaxation so as to prevent overloading of intracellular stores. Ref.9 |
| Enzyme regulation | By ATP. |
| Subcellular location | |
| Tissue specificity | Expressed in cardiac sarcolemma, brain, kidney, liver, pancreas, skeletal muscle, placenta and lung. Ref.9 |
| Sequence similarities | Belongs to the sodium/potassium/calcium exchanger family. SLC8 subfamily. Contains 2 Calx-beta domains. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Antiport Calcium transport Ion transport Sodium transport Transport |
| Cellular component | Cell membrane Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat Signal Transmembrane Transmembrane helix |
| Ligand | Calcium Calmodulin-binding Sodium |
| PTM | Glycoprotein Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | cell communication Inferred from electronic annotation. Source: InterPro muscle contractionTraceable author statement. Source: ProtInc platelet activationTraceable author statement. Source: Reactome |
| Cellular component | integral to plasma membrane Traceable author statement. Source: ProtInc |
| Molecular function | calmodulin binding Inferred from electronic annotation. Source: UniProtKB-KW heat shock protein bindingInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] Note: Additional isoforms seem to exist. | ||||||
| Isoform 1 (identifier: P32418-1) Also known as: NaCa1; NCX1.1; 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. | ||||||
| Isoform 3 (identifier: P32418-2) Also known as: NaCa3; NCX1.3; The sequence of this isoform differs from the canonical sequence as follows: 605-613: TISVKVIDD → IITIRIFDR 619-645: NKTFFLEIGEPRLVEMSEKKALLLNEL → ECSFSLVLEEPKWIRRGMK 652-679: Missing. | ||||||
| Isoform 7 (identifier: P32418-3) Also known as: NaCa7; NCX1.7; The sequence of this isoform differs from the canonical sequence as follows: 605-613: TISVKVIDD → IITIRIFDR 619-645: NKTFFLEIGEPRLVEMSEKKALLLNEL → ECSFSLVLEEPKWIRRGMK 652-656: Missing. | ||||||
| Isoform 10 (identifier: P32418-4) Also known as: NaCa10; NCX1.10; The sequence of this isoform differs from the canonical sequence as follows: 605-613: TISVKVIDD → IITIRIFDR 619-645: NKTFFLEIGEPRLVEMSEKKALLLNEL → ECSFSLVLEEPKWIRRGMK |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 35 | 35 | Potential | ||||||
| Chain | 36 – 973 | 938 | Sodium/calcium exchanger 1 | PRO_0000019379 | |||||
Regions | |||||||||
| Topological domain | 36 – 74 | 39 | Extracellular Potential | ||||||
| Transmembrane | 75 – 96 | 22 | Helical; Potential | ||||||
| Topological domain | 97 – 136 | 40 | Cytoplasmic Potential | ||||||
| Transmembrane | 137 – 158 | 22 | Helical; Potential | ||||||
| Topological domain | 159 – 170 | 12 | Extracellular Potential | ||||||
| Transmembrane | 171 – 191 | 21 | Helical; Potential | ||||||
| Topological domain | 192 – 202 | 11 | Cytoplasmic Potential | ||||||
| Transmembrane | 203 – 225 | 23 | Helical; Potential | ||||||
| Topological domain | 226 – 228 | 3 | Extracellular Potential | ||||||
| Transmembrane | 229 – 252 | 24 | Helical; Potential | ||||||
| Topological domain | 253 – 772 | 520 | Cytoplasmic Potential | ||||||
| Transmembrane | 773 – 792 | 20 | Helical; Potential | ||||||
| Topological domain | 793 – 799 | 7 | Extracellular Potential | ||||||
| Transmembrane | 800 – 822 | 23 | Helical; Potential | ||||||
| Topological domain | 823 – 824 | 2 | Cytoplasmic Potential | ||||||
| Transmembrane | 825 – 843 | 19 | Helical; Potential | ||||||
| Topological domain | 844 – 874 | 31 | Extracellular Potential | ||||||
| Transmembrane | 875 – 895 | 21 | Helical; Potential | ||||||
| Topological domain | 896 – 906 | 11 | Cytoplasmic Potential | ||||||
| Transmembrane | 907 – 927 | 21 | Helical; Potential | ||||||
| Topological domain | 928 – 944 | 17 | Extracellular Potential | ||||||
| Transmembrane | 945 – 961 | 17 | Helical; Potential | ||||||
| Topological domain | 962 – 973 | 12 | Cytoplasmic Potential | ||||||
| Repeat | 141 – 181 | 41 | Alpha-1 | ||||||
| Domain | 396 – 496 | 101 | Calx-beta 1 | ||||||
| Domain | 527 – 627 | 101 | Calx-beta 2 | ||||||
| Repeat | 842 – 878 | 37 | Alpha-2 | ||||||
| Region | 254 – 273 | 20 | Calmodulin-binding Potential | ||||||
| Compositional bias | 239 – 242 | 4 | Poly-Phe | ||||||
| Compositional bias | 692 – 695 | 4 | Poly-Glu | ||||||
| Compositional bias | 759 – 763 | 5 | Poly-Asp | ||||||
Amino acid modifications | |||||||||
| Modified residue | 392 | 1 | Phosphoserine Potential | ||||||
| Glycosylation | 44 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 160 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 869 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 605 – 613 | 9 | TISVKVIDD → IITIRIFDR in isoform 3, isoform 7 and isoform 10. | VSP_003397 | |||||
| Alternative sequence | 619 – 645 | 27 | NKTFF…LLNEL → ECSFSLVLEEPKWIRRGMK in isoform 3, isoform 7 and isoform 10. | VSP_003398 | |||||
| Alternative sequence | 652 – 679 | 28 | Missing in isoform 3. | VSP_003400 | |||||
| Alternative sequence | 652 – 656 | 5 | Missing in isoform 7. | VSP_003399 | |||||
| Natural variant | 692 | 1 | E → V. Corresponds to variant rs5557 [ dbSNP | Ensembl ]. | VAR_014847 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Molecular cloning and characterization of the human cardiac Na+/Ca2+ exchanger cDNA." Komuro I., Wenninger K.E., Philipson K.D., Izumo S. Proc. Natl. Acad. Sci. U.S.A. 89:4769-4773(1992) [PubMed: 1374913] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1). Tissue: Heart. |
| [2] | "NCX1 Na/Ca exchanger splice variants in pancreatic islet cells." Van Eylen F., Bollen A., Herchuelz A. J. Endocrinol. 168:517-526(2001) [PubMed: 11241183] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 7). |
| [3] | "Na+/Ca2+ exchanger isoforms in cultured human retinal pigment epithelium." Mangini N.J., Chen W., Wang Q., Kennedy B.G. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7). |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Placenta. |
| [5] | "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. Wilson R.K.Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [7] | "Na+/Ca2+ exchanger isoforms of rat odontoblasts and osteoblasts." Lundquist P., Lundgren T., Gritli-Linde A., Linde A. Calcif. Tissue Int. 67:60-67(2000) [PubMed: 10908415] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 459-681 (ISOFORM 10). |
| [8] | "Functional expression of human renal Na+/Ca2+ exchanger in insect cells." Loo T.W., Clarke D.M. Am. J. Physiol. 267:F70-F74(1994) [PubMed: 8048567] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 600-684 (ISOFORM 3). Tissue: Embryonic kidney. |
| [9] | "Expression of the Na-Ca exchanger in diverse tissues: a study using the cloned human cardiac Na-Ca exchanger." Kofuji P., Hadley R.W., Kieval R.S., Lederer W.J., Schulze D.H. Am. J. Physiol. 263:C1241-C1249(1992) [PubMed: 1476165] [Abstract] Cited for: FUNCTION, TISSUE SPECIFICITY. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | M91368 mRNA. Translation: AAA35702.1. AF108388 mRNA. Translation: AAF08987.1. AF108389 mRNA. Translation: AAF08988.1. AF128524 mRNA. Translation: AAD26362.1. AK291696 mRNA. Translation: BAF84385.1. AC007254 Genomic DNA. Translation: AAF19235.1. AC007281 Genomic DNA. Translation: AAF19237.1. AC007377 Genomic DNA. Translation: AAX81985.1. CH471053 Genomic DNA. Translation: EAX00331.1. CH471053 Genomic DNA. Translation: EAX00332.1. CH471053 Genomic DNA. Translation: EAX00333.1. CH471053 Genomic DNA. Translation: EAX00334.1. CH471053 Genomic DNA. Translation: EAX00335.1. CH471053 Genomic DNA. Translation: EAX00336.1. AF115505 mRNA. Translation: AAD17213.1. |
| IPI | IPI00028450. IPI00216107. IPI00216108. IPI00216109. |
| PIR | S32815. |
| RefSeq | NP_001106271.1. NM_001112800.1. NP_001106272.1. NM_001112801.1. NP_001106273.1. NM_001112802.1. NP_001239553.1. NM_001252624.1. NP_066920.1. NM_021097.2. |
| UniGene | Hs.31961. Hs.468274. Hs.728911. |
3D structure databases | |
| ProteinModelPortal | P32418. |
| SMR | P32418. Positions 406-727. |
| ModBase | Search... |
Protein-protein interaction databases | |
| DIP | DIP-48356N. |
| IntAct | P32418. 1 interaction. |
| STRING | P32418. |
PTM databases | |
| PhosphoSite | P32418. |
Polymorphism databases | |
| DMDM | 12644210. |
Proteomic databases | |
| PRIDE | P32418. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000332839; ENSP00000332931; ENSG00000183023. ENST00000378715; ENSP00000367987; ENSG00000183023. ENST00000402441; ENSP00000385188; ENSG00000183023. ENST00000403092; ENSP00000384763; ENSG00000183023. ENST00000405269; ENSP00000385535; ENSG00000183023. ENST00000406391; ENSP00000385811; ENSG00000183023. ENST00000406785; ENSP00000383886; ENSG00000183023. |
| GeneID | 6546. |
| KEGG | hsa:6546. |
| UCSC | uc002rrx.1. human. uc002rrz.1. human. uc002rsa.1. human. |
Organism-specific databases | |
| CTD | 6546. |
| GeneCards | GC02M040253. |
| H-InvDB | HIX0023924. |
| HGNC | HGNC:11068. SLC8A1. |
| HPA | CAB022694. |
| MIM | 182305. gene. |
| neXtProt | NX_P32418. |
| PharmGKB | PA314. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | prNOG13797. |
| HOVERGEN | HBG006441. |
| InParanoid | P32418. |
| OMA | NSHVENF. |
| OrthoDB | EOG495ZR4. |
| PhylomeDB | P32418. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | P32418. |
| Bgee | P32418. |
| CleanEx | HS_SLC8A1. |
| Genevestigator | P32418. |
| GermOnline | ENSG00000183023. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR003644. Calx_beta. IPR001623. DnaJ_N. IPR004836. Na_Ca_Ex. IPR002987. NaCa_exhngr1. IPR004837. NaCa_Exmemb. [Graphical view] |
| KO | K05849. |
| Pfam | PF03160. Calx-beta. 2 hits. PF01699. Na_Ca_ex. 2 hits. [Graphical view] |
| PRINTS | PR01259. NACAEXCHNGR. PR01260. NACAEXCHNGR1. |
| SMART | SM00237. Calx_beta. 2 hits. [Graphical view] |
| TIGRFAMs | TIGR00845. Caca. 1 hit. |
| ProtoNet | Search... |
Other | |
| DrugBank | DB00132. Alpha-Linolenic Acid. DB00159. Icosapent. |
| NextBio | 25469. |
| SOURCE | Search... |
Entry information
| Entry name | NAC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P32418 Secondary accession number(s): A8K6N1 Q9UKX6 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 2 Human chromosome 2: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with