Q71RS6 · NCKX5_HUMAN
- ProteinSodium/potassium/calcium exchanger 5
- GeneSLC24A5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids500 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Calcium, potassium:sodium antiporter that transports 1 Ca2+ and 1 K+ to the melanosome in exchange for 4 cytoplasmic Na+ (PubMed:18166528).
Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528).
Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528).
Involved in pigmentation, possibly by participating in ion transport in melanosomes (PubMed:16357253, PubMed:18166528).
Predominant sodium-calcium exchanger in melanocytes (PubMed:16357253, PubMed:18166528).
Catalytic activity
- Ca2+(out) + K+(out) + 4 Na+(in) = Ca2+(in) + K+(in) + 4 Na+(out)Ca2+ (out)CHEBI:29108
+ K+ (out)CHEBI:29103+ 4 Na+ (in)CHEBI:29101= Ca2+ (in)CHEBI:29108+ K+ (in)CHEBI:29103+ 4 Na+ (out)CHEBI:29101
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | melanosome | |
Cellular Component | trans-Golgi network | |
Cellular Component | trans-Golgi network membrane | |
Molecular Function | calcium channel activity | |
Molecular Function | calcium, potassium:sodium antiporter activity | |
Molecular Function | symporter activity | |
Biological Process | calcium ion import | |
Biological Process | calcium ion transmembrane transport | |
Biological Process | intracellular calcium ion homeostasis | |
Biological Process | melanin biosynthetic process | |
Biological Process | melanocyte differentiation | |
Biological Process | monoatomic ion transmembrane transport | |
Biological Process | monoatomic ion transport | |
Biological Process | negative regulation of melanin biosynthetic process |
Keywords
- Biological process
- Ligand
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameSodium/potassium/calcium exchanger 5
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ71RS6
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Golgi apparatus, trans-Golgi network membrane ; Multi-pass membrane protein
Note: Enriched in late-stage melanosomes.
Features
Showing features for topological domain, transmembrane.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Topological domain | 30-66 | Extracellular | ||||
Sequence: TSLPQRLPRATGNSTQCVISPSSEFPEGFFTRQERRD | ||||||
Transmembrane | 67-87 | Helical; Name=1 | ||||
Sequence: GGIIIYFLIIVYMFMAISIVC | ||||||
Topological domain | 88-111 | Cytoplasmic | ||||
Sequence: DEYFLPSLEIISESLGLSQDVAGT | ||||||
Transmembrane | 112-132 | Helical; Name=2 | ||||
Sequence: TFMAAGSSAPELVTAFLGVFI | ||||||
Topological domain | 133-136 | Extracellular | ||||
Sequence: TKGD | ||||||
Transmembrane | 137-157 | Helical; Name=3 | ||||
Sequence: IGISTILGSAIYNLLGICAAC | ||||||
Topological domain | 158-169 | Cytoplasmic | ||||
Sequence: GLLSNTVSTLSC | ||||||
Transmembrane | 170-190 | Helical; Name=4 | ||||
Sequence: WPLFRDCAAYTISAAAVLGII | ||||||
Topological domain | 191-195 | Extracellular | ||||
Sequence: YDNQV | ||||||
Transmembrane | 196-216 | Helical; Name=5 | ||||
Sequence: YWYEGALLLLIYGLYVLVLCF | ||||||
Topological domain | 217-302 | Cytoplasmic | ||||
Sequence: DIKINQYIIKKCSPCCACLAKAMERSEQQPLMGWEDEGQPFIRRQSRTDSGIFYEDSGYSQLSISLHGLSQVSEDPPSVFNMPEAD | ||||||
Transmembrane | 303-323 | Helical; Name=6 | ||||
Sequence: LKRIFWVLSLPIITLLFLTTP | ||||||
Topological domain | 324-333 | Extracellular | ||||
Sequence: DCRKKFWKNY | ||||||
Transmembrane | 334-354 | Helical; Name=7 | ||||
Sequence: FVITFFMSAIWISAFTYILVW | ||||||
Topological domain | 355-368 | Cytoplasmic | ||||
Sequence: MVTITGETLEIPDT | ||||||
Transmembrane | 369-389 | Helical; Name=8 | ||||
Sequence: VMGLTLLAAGTSIPDTIASVL | ||||||
Topological domain | 390-399 | Extracellular | ||||
Sequence: VARKGKGDMA | ||||||
Transmembrane | 400-420 | Helical; Name=9 | ||||
Sequence: MSNIVGSNVFDMLCLGIPWFI | ||||||
Topological domain | 421-437 | Cytoplasmic | ||||
Sequence: KTAFINGSAPAEVNSRG | ||||||
Transmembrane | 438-458 | Helical; Name=10 | ||||
Sequence: LTYITISLNISIIFLFLAVHF | ||||||
Topological domain | 459-468 | Extracellular | ||||
Sequence: NGWKLDRKLG | ||||||
Transmembrane | 469-489 | Helical; Name=11 | ||||
Sequence: IVCLLSYLGLATLSVLYELGI | ||||||
Topological domain | 490-500 | Cytoplasmic | ||||
Sequence: IGNNKIRGCGG |
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Albinism, oculocutaneous, 6 (OCA6)
- Note
- DescriptionA disorder characterized by a reduction or complete loss of melanin in the skin, hair and eyes. Patients show reduced or lacking pigmentation often accompanied by eye symptoms such as photophobia, strabismus, moderate to severe visual impairment, and nystagmus.
- See alsoMIM:113750
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_024922 | 111 | greatly reduced exchange activity; dbSNP:rs1426654 | |||
Sequence: T → A |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 610 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for signal, chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Signal | 1-29 | |||||
Sequence: MQTKGGQTWARRALLLGILWATAHLPLSG | ||||||
Chain | PRO_0000045753 | 30-500 | Sodium/potassium/calcium exchanger 5 | |||
Sequence: TSLPQRLPRATGNSTQCVISPSSEFPEGFFTRQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISESLGLSQDVAGTTFMAAGSSAPELVTAFLGVFITKGDIGISTILGSAIYNLLGICAACGLLSNTVSTLSCWPLFRDCAAYTISAAAVLGIIYDNQVYWYEGALLLLIYGLYVLVLCFDIKINQYIIKKCSPCCACLAKAMERSEQQPLMGWEDEGQPFIRRQSRTDSGIFYEDSGYSQLSISLHGLSQVSEDPPSVFNMPEADLKRIFWVLSLPIITLLFLTTPDCRKKFWKNYFVITFFMSAIWISAFTYILVWMVTITGETLEIPDTVMGLTLLAAGTSIPDTIASVLVARKGKGDMAMSNIVGSNVFDMLCLGIPWFIKTAFINGSAPAEVNSRGLTYITISLNISIIFLFLAVHFNGWKLDRKLGIVCLLSYLGLATLSVLYELGIIGNNKIRGCGG |
Proteomic databases
PTM databases
Expression
Interaction
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q71RS6 | MEOX2 Q6FHY5 | 3 | EBI-12163679, EBI-16439278 |
Protein-protein interaction databases
Miscellaneous
Structure
Sequence & Isoform
- Sequence statusComplete
- Sequence processingThe displayed sequence is further processed into a mature form.
This entry describes 2 isoforms produced by Alternative splicing.
Q71RS6-1
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.
- Name1
- Length500
- Mass (Da)54,888
- Last updated2004-07-05 v1
- ChecksumD8E91A017C9651ED
Q71RS6-2
- Name2
- Differences from canonical
- 41-101: GNSTQCVISPSSEFPEGFFTRQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISES → A
Computationally mapped potential isoform sequences
There is 1 potential isoform mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
H0YLZ0 | H0YLZ0_HUMAN | SLC24A5 | 122 |
Features
Showing features for alternative sequence.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Alternative sequence | VSP_047596 | 41-101 | in isoform 2 | |||
Sequence: GNSTQCVISPSSEFPEGFFTRQERRDGGIIIYFLIIVYMFMAISIVCDEYFLPSLEIISES → A |
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.
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.
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF348468 EMBL· GenBank· DDBJ | AAQ15116.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ665306 EMBL· GenBank· DDBJ | ABG66958.1 EMBL· GenBank· DDBJ | mRNA | ||
DQ665307 EMBL· GenBank· DDBJ | ABG66959.1 EMBL· GenBank· DDBJ | mRNA | ||
AC090526 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC073944 EMBL· GenBank· DDBJ | AAH73944.1 EMBL· GenBank· DDBJ | mRNA | ||
BC113628 EMBL· GenBank· DDBJ | AAI13629.1 EMBL· GenBank· DDBJ | mRNA | ||
BC113630 EMBL· GenBank· DDBJ | AAI13631.1 EMBL· GenBank· DDBJ | mRNA | ||
BC143950 EMBL· GenBank· DDBJ | AAI43951.1 EMBL· GenBank· DDBJ | mRNA |