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This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
SLC30A5 (Solute Carrier Family 30 Member 5) is a Protein Coding gene. Diseases associated with SLC30A5 include Acrodermatitis Enteropathica, Zinc-Deficiency Type and Autoimmune Lymphoproliferative Syndrome. Among its related pathways are Metal ion SLC transporters and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC30A7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005385 | zinc ion transmembrane transporter activity | IDA,TAS | -- |
GO:0008270 | zinc ion binding | NAS | 11937503 |
GO:0008324 | cation transmembrane transporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005730 | nucleolus | IDA | -- |
GO:0005794 | Golgi apparatus | IBA,IDA | 17349999 |
GO:0005887 | integral component of plasma membrane | TAS | 11937503 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metal ion SLC transporters |
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2 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds | ||
3 | Peptide hormone metabolism | ||
4 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IEA | -- |
GO:0006824 | cobalt ion transport | IDA | 11937503 |
GO:0006829 | zinc ion transport | IEA,IDA | 11937503 |
GO:0006882 | cellular zinc ion homeostasis | IDA | 11937503 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 15b | · | 15c | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b | · | 18c | · | 18d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||
SP2: | |||||||||||||||
SP3: | - | - | |||||||||||||
SP4: | |||||||||||||||
SP5: | - | - | - | ||||||||||||
SP6: | |||||||||||||||
SP7: | |||||||||||||||
SP8: | |||||||||||||||
SP9: | |||||||||||||||
SP10: | - | - | |||||||||||||
SP11: | |||||||||||||||
SP12: | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SLC30A5 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SLC30A5 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SLC30A5 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Slc30a5 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Slc30a5 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | SLC30A5 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SLC30A5 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SLC30A5 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | slc30a5 30 |
|
||
Str.15099 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.33119 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | slc30a5 30 31 |
|
OneToOne | |
wufi03d07 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.13931 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | CELE_Y105E8A.3 30 |
|
||
Y105E8A.3 31 |
|
OneToOne | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MSC2 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
769300 | Benign: not provided | 69,100,937(+) | T/TG | INTRON_VARIANT | |
771377 | Benign: not provided | 69,129,476(+) | A/G | SYNONYMOUS_VARIANT | |
777594 | Benign: not provided | 69,118,507(+) | G/A | MISSENSE_VARIANT | |
778191 | Benign: not provided | 69,100,936(+) | G/A | INTRON_VARIANT | |
778192 | Benign: not provided | 69,103,062(+) | G/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv5694n100 | CNV | gain | 25217958 |
nsv1137005 | CNV | deletion | 24896259 |
Disorder | Aliases | PubMed IDs |
---|---|---|
acrodermatitis enteropathica, zinc-deficiency type |
|
|
autoimmune lymphoproliferative syndrome |
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