Sinkkihomeostaasin geeniperheistä ZNT ja ZIP. Perhe ZNT, 10 jäsentä.

Kaksi proteiiniperhettä SLC30A (ZNT) ja SLC39A (ZIP) osallistuvat sinkin homeostaasiin.Sinkillä on merkitys glukoosiaineenvaihdunnalle.
https://pubmed.ncbi.nlm.nih.gov/29372370/?from_term=SLC30A+family&from_pos=1

ZNT geeni perhe

(1) Zinc Transporter 1, SLC30, ZNT(1q32.3)

Sinkinpuute tyyppi. Acrodermatitis enteropathica.

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A1&keywords=ZNT1 GeneCards Summary for SLC30A1 Gene

SLC30A1 (Solute Carrier Family 30 Member 1) is a Protein Coding gene. Diseases associated with SLC30A1 include Epidermodysplasia Verruciformis 1 and Acrodermatitis Enteropathica, Zinc-Deficiency Type. Among its related pathways are Mineral absorption and Metal ion SLC transporters. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity and calcium channel inhibitor activity. An important paralog of this gene is SLC30A10. UniProtKB/Swiss-Prot Summary for SLC30A1 Gene: May be involved in zinc transport out of the cell. ZNT1_HUMAN,Q9Y6M5

(2) Zinc transporter 2 (1p36.11) , ZNT2, SLC30A2, TNZD, PP12488.

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A2&keywords=ZNT2

(Sinkin erittyminen äidinmaitoon. Sinkinpuute tyyppi).

The protein encoded by this gene is a zinc transporter that acts as a homodimer. The encoded protein plays a role in secreting zinc into breast milk. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]

SLC30A2 (Solute Carrier Family 30 Member 2) is a Protein Coding gene. Diseases associated with SLC30A2 include Zinc Deficiency, Transient Neonatal and Acrodermatitis Enteropathica, Zinc-Deficiency Type. Among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC30A3.

(3) ZNT3, SCL30A3 ( 2p23.3)

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A3&keywords=ZNT3

GeneCards Summary for SLC30A3 Gene

SLC30A3 (Solute Carrier Family 30 Member 3) is a Protein Coding gene. Diseases associated with SLC30A3 include Hyperekplexia. Among its related pathways are Metal ion SLC transporters and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity and zinc-transporting ATPase activity. An important paralog of this gene is SLC30A2. UniProtKB/Swiss-Prot Summary for SLC30A3 Gene Involved in accumulation of zinc in synaptic vesicles. ZNT3_HUMAN,Q99726

(4) ZNT4 , SLC30A4(15q21.1)

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A4&keywords=ZNT4 Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008] GeneCards Summary for SLC30A4 Gene SLC30A4 (Solute Carrier Family 30 Member 4) is a Protein Coding gene. Diseases associated with SLC30A4 include Acrodermatitis Enteropathica, Zinc-Deficiency Type and Acrodermatitis. Among its related pathways are Metal ion SLC transporters. 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 SLC30A2. Probably involved in zinc transport out of the cytoplasm, maybe by sequestration into an intracellular compartment. ZNT4_HUMAN,O14863

(5) ZNT5 (SLC30A5) (5q13.1-q13.29 , ZNTL1, HZTL1

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A5&keywords=ZNT5 Entrez Gene Summary for SLC30A5 Gene 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] GeneCards Summary for SLC30A5 Gene SLC30A5 (Solute Carrier Family 30 Member 5) is a Protein Coding gene. Diseases associated with SLC30A5 include Acrodermatitis Enteropathica, Zinc-Deficiency Type and Nonsyndromic Deafness. Among its related pathways are Metal ion SLC transporters and Peptide hormone metabolism. 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. UniProtKB/Swiss-Prot Summary for SLC30A5 Gene Functions as a zinc transporter. May be a transporter of zinc into beta cells in order to form insulin crystals. Partly regulates cellular zinc homeostasis. Required with ZNT7 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT6 and ZNT7 for the activation of TNAP. ZNT5_HUMAN,Q8TAD4

(6) ZNT6, SLC30A6, (2p22.3), MST103, MSTP103.

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A6&keywords=ZNT6 Entrez Gene Summary for SLC30A6 Gene This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016] GeneCards Summary for SLC30A6 Gene SLC30A6 (Solute Carrier Family 30 Member 6) is a Protein Coding gene. Diseases associated with SLC30A6 include Alzheimer Disease and Myasthenic Syndrome, Congenital, 5. Among its related pathways are Metal ion SLC transporters and Peptide hormone metabolism. 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 SLC30A5. UniProtKB/Swiss-Prot Summary for SLC30A6 Gene Zinc-efflux transporter which allocates the cytoplasmic zinc to the trans-Golgi network (TGN) as well as the vesicular compartment. ZNT6_HUMAN,Q6NXT4

(7) ZNT7, SLC30A7 . Zinc transporter like 2, ZNTL2.

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A7&keywords=ZNT7Entrez Gene Summary for SLC30A7 Gene. Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008] GeneCards Summary for SLC30A7 Gene

SLC30A7 (Solute Carrier Family 30 Member 7) is a Protein Coding gene. Diseases associated with SLC30A7 include Joubert Syndrome 1 and Acrodermatitis Enteropathica, Zinc-Deficiency Type. Among its related pathways are Metal ion SLC transporters and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC30A5. UniProtKB/Swiss-Prot Summary for SLC30A7 Gene Seems to facilitate zinc transport from the cytoplasm into the Golgi apparatus. Partly regulates cellular zinc homeostasis. Required with ZNT5 for the activation of zinc-requiring enzymes, alkaline phosphatases (ALPs). Transports zinc into the lumens of the Golgi apparatus and the vesicular compartments where ALPs locate, thus, converting apoALPs to holoALPs. Required with ZNT5 and ZNT6 for the activation of TNAP (By similarity). ZNT7_HUMAN,Q8NEW0
 

(8), ZNT8, SLC30A8, (8q24.11)

https://www.genecards.org/cgi-bin/carddisp.pl?gene=SLC30A8&keywords=ZNT8 Entrez Gene Summary for SLC30A8 Gene. The protein encoded by this gene is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]. GeneCards Summary for SLC30A8 Gene. SLC30A8 (Solute Carrier Family 30 Member 8) is a Protein Coding gene. Diseases associated with SLC30A8 include Diabetes Mellitus, Noninsulin-Dependent and Diabetes Mellitus. Among its related pathways are Metal ion SLC transporters and Peptide hormone metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and zinc ion transmembrane transporter activity. An important paralog of this gene is SLC30A2. UniProtKB/Swiss-Prot Summary for SLC30A8 Gene. Facilitates the accumulation of zinc from the cytoplasm into intracellular vesicles, being a zinc-efflux transporter. May be a major component for providing zinc to insulin maturation and/or storage processes in insulin-secreting pancreatic beta-cells. ZNT8_HUMAN,Q8IWU4

(9) ZNT9, SLC30A9.(4p13), GRIP1- dependent Nuclear Receptor Coactivator, GAC63, Chromosome4 OREF1, BILAPES, HuEL.
 GeneCards Summary for SLC30A9 Gene

SLC30A9 (Solute Carrier Family 30 Member 9) is a Protein Coding gene. Diseases associated with SLC30A9 include Birk-Landau-Perez Syndrome and Hemochromatosis, Type 5. Among its related pathways are Metal ion SLC transporters. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and nuclear receptor transcription coactivator activity. UniProtKB/Swiss-Prot Summary for SLC30A9 Gene Acts as a zinc transporter involved in intracellular zinc homeostasis (PubMed:28334855). Functions as a secondary coactivator for nuclear receptors by cooperating with p160 coactivators subtypes. Plays a role in transcriptional activation of Wnt-responsive genes (By similarity). ZNT9_HUMAN,Q6PML9 Quaternary structure: Interacts with GRIP1, ESR1 and AR.

(10) ZNT10, SLC30A10, (1q41), Manganese Transporter SLC30 A19, HMNDYT1, HMDPC, ZRC1, ZNT8.
Entrez Gene Summary for SLC30A10 Gene This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012]GeneCards Summary for SLC30A10 Gene SLC30A10 (Solute Carrier Family 30 Member 10) is a Protein Coding gene. Diseases associated with SLC30A10 include Hypermanganesemia With Dystonia 1 and Hypermanganesemia With Dystonia. Among its related pathways are Metal ion SLC transporters. Gene Ontology (GO) annotations related to this gene include cation transmembrane transporter activity. An important paralog of this gene is SLC30A1. UniProtKB/Swiss-Prot Summary for SLC30A10 Gene. Plays a pivotal role in manganese transport. Manganese is an essential cation for the function of several enzymes, including some crucially important for the metabolism of neurotransmitters and other neuronal metabolic pathways. However, elevated levels of manganese are cytotoxic and induce oxidative stress, mitochondrial dysfunction and apoptosis. Acts as manganese efflux transporter and confers protection against manganese-induced cell death (PubMed:22341972, PubMed:22341971, PubMed:25319704, PubMed:27226609, PubMed:27307044). Also acts as zinc transporter involved in zinc homeostasis. Seems to mediate zinc transport into early endosomes and recycling endosomes to prevent zinc toxicity; the function may be regulated by heterodimerization with other zinc transporters of the SLC30A subfamily. The SLC30A3:SLC30A10 heterodimer is involved in zinc transport-dependent regulation of the EGFR/ERK transduction pathway in endosomes. May be involved in regulation of zinc-dependent senescence of vascular smooth muscle cells (PubMed:22706290, PubMed:22427991, PubMed:26728129). ZNT10_HUMAN,Q6XR72 Protein attributes for SLC30A10 Gene Size: 485 amino acids , Molecular mass: 52684 Da . Quaternary structure: Forms homodimers. Forms heterodimers and high-molecular weight oligomers with SLC30A3, SLC30A2 and SLC30A4; heterodimerization is mediated by covalent-bound tyrosine residues and occurs probably in a tissue-specific manner. Miscellaneous: [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. SequenceCaution: Sequence=AAP44332.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in position 427.; Evidence={ECO:0000305};

(11) ZNT tästä eteenpäin ei löydy geenejä tällä perhenimellä  SLC30A.
9.6. 2020 ZNT perheen geeneistä Gene Cards lähteestä. hakusanana  ZNT , numerot 1-10 tai  SCL30A numerot 1-10.
Klo 12:02.