Human Gene SLC24A5 (ENST00000341459.8) from GENCODE V44
Description: Homo sapiens solute carrier family 24 member 5 (SLC24A5), mRNA. (from RefSeq NM_205850) RefSeq Summary (NM_205850): This gene is a member of the potassium-dependent sodium/calcium exchanger family and encodes an intracellular membrane protein with 2 large hydrophilic loops and 2 sets of multiple transmembrane-spanning segments. Sequence variation in this gene has been associated with differences in skin pigmentation. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000341459.8 Gencode Gene: ENSG00000188467.11 Transcript (Including UTRs) Position: hg38 chr15:48,120,990-48,142,672 Size: 21,683 Total Exon Count: 9 Strand: + Coding Region Position: hg38 chr15:48,121,045-48,142,351 Size: 21,307 Coding Exon Count: 9
ID:NCKX5_HUMAN DESCRIPTION: RecName: Full=Sodium/potassium/calcium exchanger 5; AltName: Full=Na(+)/K(+)/Ca(2+)-exchange protein 5; AltName: Full=Solute carrier family 24 member 5; Flags: Precursor; FUNCTION: Cation exchanger involved in pigmentation, possibly by participating in ion transport in melanosomes. Probably transports 1 Ca(2+) and 1 K(+) in exchange for 4 Na(+). SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By similarity). Melanosome. Note=Enriched in late-stage melanosomes. POLYMORPHISM: Genetic variants in SLC24A5 define the skin/hair/eye pigmentation variation locus 4 (SHEP4) [MIM:113750]. 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. POLYMORPHISM: The Ala-111 allele predominates (93 to 100%) in African and East Asian populations. In contrast, the Thr-111 allele is nearly fixed (98.7 to 100%) in European populations, is associated with a substantial reduction in regional heterozygosity, and correlates with lighter skin pigmentation in admixed populations. SIMILARITY: Belongs to the sodium/potassium/calcium exchanger family. SLC24A subfamily. WEB RESOURCE: Name=Protein Spotlight; Note=Skin-deep - Issue 74 of September 2006; URL="http://web.expasy.org/spotlight/back_issues/sptlt074.shtml";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF01699 - Sodium/calcium exchanger protein
ModBase Predicted Comparative 3D Structure on Q71RS6
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006811 ion transport GO:0006813 potassium ion transport GO:0006814 sodium ion transport GO:0006816 calcium ion transport GO:0006874 cellular calcium ion homeostasis GO:0034220 ion transmembrane transport GO:0035725 sodium ion transmembrane transport GO:0048021 regulation of melanin biosynthetic process GO:0048022 negative regulation of melanin biosynthetic process GO:0050896 response to stimulus GO:0055085 transmembrane transport GO:0070588 calcium ion transmembrane transport
AF348468 - Homo sapiens ion transporter JSX (JSX) mRNA, complete cds. BC110836 - Homo sapiens cDNA clone IMAGE:6168287, with apparent retained intron. BC113630 - Homo sapiens solute carrier family 24, member 5, mRNA (cDNA clone MGC:142190 IMAGE:8322682), complete cds. BC113628 - Homo sapiens solute carrier family 24, member 5, mRNA (cDNA clone MGC:142188 IMAGE:8322680), complete cds. BC143950 - Homo sapiens solute carrier family 24, member 5, mRNA (cDNA clone MGC:177485 IMAGE:9052468), complete cds. DQ665306 - Homo sapiens solute carrier family 24 member 5 (SLC24A5) mRNA, SLC24A5-THR111 allele, complete cds, alternatively spliced. DQ665307 - Homo sapiens solute carrier family 24 member 5 (SLC24A5) mRNA, SLC24A5-THR allele, complete cds, alternatively spliced. HQ258279 - Synthetic construct Homo sapiens clone IMAGE:100072588 solute carrier family 24, member 5 (SLC24A5) gene, encodes complete protein. KJ895970 - Synthetic construct Homo sapiens clone ccsbBroadEn_05364 SLC24A5 gene, encodes complete protein. JD351302 - Sequence 332326 from Patent EP1572962. JD256216 - Sequence 237240 from Patent EP1572962. JD498469 - Sequence 479493 from Patent EP1572962. JD277970 - Sequence 258994 from Patent EP1572962. JD515308 - Sequence 496332 from Patent EP1572962. JD451754 - Sequence 432778 from Patent EP1572962. JD501684 - Sequence 482708 from Patent EP1572962. BC073944 - Homo sapiens solute carrier family 24, member 5, mRNA (cDNA clone IMAGE:5397950), partial cds.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q71RS6 (Reactome details) participates in the following event(s):
R-HSA-5626316 SLC24A5 exchanges cytosolic 4Na+ for Golgi luminal Ca2+, K+ R-HSA-425561 Sodium/Calcium exchangers R-HSA-425393 Metabolism of nitrogenous molecules R-HSA-425407 SLC-mediated transmembrane transport R-HSA-382551 Transport of small molecules
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