Q8NFF2 (NCKX4_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 99.
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/potassium/calcium exchanger 4 Alternative name(s): Na(+)/K(+)/Ca(2+)-exchange protein 4 Solute carrier family 24 member 4 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 622 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at transcript level |
General annotation (Comments)
| Function | Transports 1 Ca2+ and 1 K+ in exchange for 4 Na+. |
| Subcellular location | |
| Tissue specificity | Expressed abundantly in all regions of the brain, aorta, lung and thymus. Expressed at lower levels in the stomach and intestine. |
| Polymorphism | Genetic variants in SLC24A4 define the skin/hair/eye pigmentation variation locus 6 (SHEP6) [MIM:210750]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair. |
| Sequence similarities | Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily. |
| Caution | It is uncertain whether Met-1 or Met-18 is the initiator. |
| Sequence caution | The sequence AAH69653.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAM76070.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence AAM76071.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. The sequence BAC04715.1 differs from that shown. Reason: Probable cloning artifact. The sequence CAD38903.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended. |
Ontologies
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q8NFF2-1) 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 2 (identifier: Q8NFF2-2) The sequence of this isoform differs from the canonical sequence as follows: 1-64: Missing. | ||||||
| Isoform 3 (identifier: Q8NFF2-3) The sequence of this isoform differs from the canonical sequence as follows: 275-293: Missing. | ||||||
| Isoform 4 (identifier: Q8NFF2-4) The sequence of this isoform differs from the canonical sequence as follows: 1-109: Missing. 172-210: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 38 | 38 | Potential | ||||||
| Chain | 39 – 622 | 584 | Sodium/potassium/calcium exchanger 4 | PRO_0000019373 | |||||
Regions | |||||||||
| Topological domain | 39 – 97 | 59 | Extracellular Potential | ||||||
| Transmembrane | 98 – 118 | 21 | Helical; Potential | ||||||
| Topological domain | 119 – 172 | 54 | Cytoplasmic Potential | ||||||
| Transmembrane | 173 – 193 | 21 | Helical; Potential | ||||||
| Topological domain | 194 – 200 | 7 | Extracellular Potential | ||||||
| Transmembrane | 201 – 221 | 21 | Helical; Potential | ||||||
| Topological domain | 222 – 224 | 3 | Cytoplasmic Potential | ||||||
| Transmembrane | 225 – 245 | 21 | Helical; Potential | ||||||
| Topological domain | 246 – 424 | 179 | Extracellular Potential | ||||||
| Transmembrane | 425 – 445 | 21 | Helical; Potential | ||||||
| Topological domain | 446 – 457 | 12 | Cytoplasmic Potential | ||||||
| Transmembrane | 458 – 478 | 21 | Helical; Potential | ||||||
| Topological domain | 479 | 1 | Extracellular Potential | ||||||
| Transmembrane | 480 – 500 | 21 | Helical; Potential | ||||||
| Topological domain | 501 – 526 | 26 | Cytoplasmic Potential | ||||||
| Transmembrane | 527 – 547 | 21 | Helical; Potential | ||||||
| Topological domain | 548 – 557 | 10 | Extracellular Potential | ||||||
| Transmembrane | 558 – 578 | 21 | Helical; Potential | ||||||
| Topological domain | 579 – 586 | 8 | Cytoplasmic Potential | ||||||
| Transmembrane | 587 – 607 | 21 | Helical; Potential | ||||||
| Topological domain | 608 – 622 | 15 | Extracellular Potential | ||||||
| Repeat | 139 – 179 | 41 | Alpha-1 | ||||||
| Repeat | 495 – 526 | 32 | Alpha-2 | ||||||
| Compositional bias | 395 – 406 | 12 | Poly-Pro | ||||||
Amino acid modifications | |||||||||
| Glycosylation | 69 | 1 | N-linked (GlcNAc...) Potential | ||||||
| Glycosylation | 76 | 1 | N-linked (GlcNAc...) Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 109 | 109 | Missing in isoform 4. | VSP_008370 | |||||
| Alternative sequence | 1 – 64 | 64 | Missing in isoform 2. | VSP_008369 | |||||
| Alternative sequence | 172 – 210 | 39 | Missing in isoform 4. | VSP_008371 | |||||
| Alternative sequence | 275 – 293 | 19 | Missing in isoform 3. | VSP_008372 | |||||
| Natural variant | 613 | 1 | V → I. Corresponds to variant rs4900130 [ dbSNP | Ensembl ]. | VAR_042664 | |||||
Experimental info | |||||||||
| Sequence conflict | 444 | 1 | C → S in BAC04715. Ref.2 | ||||||
| Sequence conflict | 560 | 1 | Y → H in BAG58108. Ref.2 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF520704 mRNA. Translation: AAM76070.1. Different initiation. AF520705 mRNA. Translation: AAM76071.1. Different initiation. AF520706 mRNA. Translation: AAM76072.1. AK096171 mRNA. Translation: BAC04715.1. Sequence problems. AK295059 mRNA. Translation: BAG58108.1. AL118559 Genomic DNA. No translation available. CH471061 Genomic DNA. Translation: EAW81485.1. BC069653 mRNA. Translation: AAH69653.1. Different initiation. AL834225 mRNA. Translation: CAD38903.1. Different initiation. |
| IPI | IPI00177492. IPI00254233. IPI00254236. IPI00982723. |
| RefSeq | NP_705932.2. NM_153646.3. NP_705933.2. NM_153647.3. NP_705934.1. NM_153648.3. |
| UniGene | Hs.385530. |
3D structure databases | |
| ProteinModelPortal | Q8NFF2. |
| SMR | Q8NFF2. Positions 120-242, 452-536. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000298877. |
Protein family/group databases | |
| TCDB | 2.A.19.4.5. Ca2+:cation antiporter (CaCA) family. |
Polymorphism databases | |
| DMDM | 37081118. |
Proteomic databases | |
| PaxDb | Q8NFF2. |
| PRIDE | Q8NFF2. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000298877; ENSP00000298877; ENSG00000140090. ENST00000351924; ENSP00000337789; ENSG00000140090. ENST00000393265; ENSP00000376948; ENSG00000140090. ENST00000531433; ENSP00000433302; ENSG00000140090. ENST00000532405; ENSP00000431840; ENSG00000140090. |
| GeneID | 123041. |
| KEGG | hsa:123041. |
| UCSC | uc001yai.3. human. uc010auj.3. human. |
Organism-specific databases | |
| CTD | 123041. |
| GeneCards | GC14P092788. |
| HGNC | HGNC:10978. SLC24A4. |
| MIM | 210750. phenotype. 609840. gene. |
| neXtProt | NX_Q8NFF2. |
| PharmGKB | PA35854. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG0530. |
| HOVERGEN | HBG054881. |
| InParanoid | Q8NFF2. |
| KO | K13752. |
| OMA | SPFSVPE. |
| OrthoDB | EOG4W6NVW. |
Enzyme and pathway databases | |
| Reactome | REACT_15518. Transmembrane transport of small molecules. |
Gene expression databases | |
| ArrayExpress | Q8NFF2. |
| Bgee | Q8NFF2. |
| CleanEx | HS_SLC24A4. |
| Genevestigator | Q8NFF2. |
| GermOnline | ENSG00000140090. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR004481. K/Na/Ca-exchanger. IPR004837. NaCa_Exmemb. [Graphical view] |
| PANTHER | PTHR10846. PTHR10846. 1 hit. |
| Pfam | PF01699. Na_Ca_ex. 2 hits. [Graphical view] |
| TIGRFAMs | TIGR00367. TIGR00367. 1 hit. |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 123041. |
| NextBio | 81061. |
| SOURCE | Search... |
Entry information
| Entry name | NCKX4_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q8NFF2 Secondary accession number(s): B4DHE7 Q8NFF1 | ||||||||
| Entry history |
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| 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 14 Human chromosome 14: 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
