Human Gene SLC39A8 (ENST00000394833.6) from GENCODE V44
  Description: Homo sapiens solute carrier family 39 member 8 (SLC39A8), transcript variant 1, mRNA. (from RefSeq NM_022154)
RefSeq Summary (NM_022154): This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008].
Gencode Transcript: ENST00000394833.6
Gencode Gene: ENSG00000138821.14
Transcript (Including UTRs)
   Position: hg38 chr4:102,261,666-102,345,139 Size: 83,474 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr4:102,263,044-102,344,662 Size: 81,619 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:102,261,666-102,345,139)mRNA (may differ from genome)Protein (460 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: S39A8_HUMAN
DESCRIPTION: RecName: Full=Zinc transporter ZIP8; AltName: Full=BCG-induced integral membrane protein in monocyte clone 103 protein; AltName: Full=LIV-1 subfamily of ZIP zinc transporter 6; Short=LZT-Hs6; AltName: Full=Solute carrier family 39 member 8; AltName: Full=Zrt- and Irt-like protein 8; Short=ZIP-8;
FUNCTION: Acts as a zinc-influx transporter.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (Potential). Note=Associated with the lysosomal/endosomal compartment following transfection.
TISSUE SPECIFICITY: Expressed in thymus, placenta, lung, liver, pancreas and, to a lower extent, in spleen, testis, ovary, small intestine, colon, leukocyte, heart. Highest expression is observed in pancreas.
INDUCTION: By live and heat-killed Mycobacterium bovis bacterial cell wall and inflammatory cytokines like TNF. Down-regulated following phorbol ester treatment.
SIMILARITY: Belongs to the ZIP transporter (TC 2.A.5) family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC39A8
Diseases sorted by gene-association score: congenital disorder of glycosylation, type iin* (1550)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.05 RPKM in Lung
Total median expression: 202.46 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -207.40477-0.435 Picture PostScript Text
3' UTR -311.401378-0.226 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003689 - ZIP

Pfam Domains:
PF02535 - ZIP Zinc transporter

ModBase Predicted Comparative 3D Structure on Q9C0K1
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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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005385 zinc ion transmembrane transporter activity
GO:0046873 metal ion transmembrane transporter activity

Biological Process:
GO:0006811 ion transport
GO:0006829 zinc II ion transport
GO:0006882 cellular zinc ion homeostasis
GO:0030001 metal ion transport
GO:0055085 transmembrane transport
GO:0070574 cadmium ion transmembrane transport
GO:0071578 zinc II ion transmembrane import

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0031090 organelle membrane


-  Descriptions from all associated GenBank mRNAs
  AK304274 - Homo sapiens cDNA FLJ61547 complete cds, highly similar to Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), mRNA.
BC001320 - Homo sapiens solute carrier family 39 (zinc transporter), member 8, mRNA (cDNA clone IMAGE:3456026), partial cds.
AB040120 - Homo sapiens mRNA for BCG induced integral membrane protein BIGM103, complete cds.
AL049963 - Homo sapiens mRNA; cDNA DKFZp564A132 (from clone DKFZp564A132).
BC012125 - Homo sapiens solute carrier family 39 (zinc transporter), member 8, mRNA (cDNA clone MGC:20193 IMAGE:4650026), complete cds.
AK027652 - Homo sapiens cDNA FLJ14746 fis, clone NT2RP3002810, weakly similar to HISTIDINE-RICH PROTEIN KE4.
JD350584 - Sequence 331608 from Patent EP1572962.
JD297287 - Sequence 278311 from Patent EP1572962.
JD303134 - Sequence 284158 from Patent EP1572962.
JD335052 - Sequence 316076 from Patent EP1572962.
JD091256 - Sequence 72280 from Patent EP1572962.
AB020969 - Homo sapiens mRNA, 3'UTR, up-regulated by BCG-CWS.
JD025243 - Sequence 6267 from Patent EP1572962.
JD033230 - Sequence 14254 from Patent EP1572962.
JD512364 - Sequence 493388 from Patent EP1572962.
JD348112 - Sequence 329136 from Patent EP1572962.
JD298256 - Sequence 279280 from Patent EP1572962.
AB020970 - Homo sapiens mRNA, partial cds and 3'UTR, up-regulated by BCG-CWS.
JD441335 - Sequence 422359 from Patent EP1572962.
JD060958 - Sequence 41982 from Patent EP1572962.
AF193052 - Homo sapiens PP3105 mRNA, complete cds.
JD092639 - Sequence 73663 from Patent EP1572962.
DQ892212 - Synthetic construct clone IMAGE:100004842; FLH184103.01X; RZPDo839C03144D solute carrier family 39 (zinc transporter), member 8 (SLC39A8) gene, encodes complete protein.
KJ894532 - Synthetic construct Homo sapiens clone ccsbBroadEn_03926 SLC39A8 gene, encodes complete protein.
DQ895407 - Synthetic construct Homo sapiens clone IMAGE:100009867; FLH184099.01L; RZPDo839C03143D solute carrier family 39 (zinc transporter), member 8 (SLC39A8) gene, encodes complete protein.
CU680230 - Synthetic construct Homo sapiens gateway clone IMAGE:100019504 5' read SLC39A8 mRNA.
JD381367 - Sequence 362391 from Patent EP1572962.
JD146881 - Sequence 127905 from Patent EP1572962.
JD520373 - Sequence 501397 from Patent EP1572962.
JD395969 - Sequence 376993 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9C0K1 (Reactome details) participates in the following event(s):

R-HSA-442387 ZIP8 mediates zinc influx into cells
R-HSA-442380 Zinc influx into cells by the SLC39 gene family
R-HSA-435354 Zinc transporters
R-HSA-425410 Metal ion SLC transporters
R-HSA-425366 Transport of bile salts and organic acids, metal ions and amine compounds
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: B4E2H3, BIGM103, ENST00000394833.1, ENST00000394833.2, ENST00000394833.3, ENST00000394833.4, ENST00000394833.5, NM_022154, PP3105, Q96SM9, Q9BVC0, Q9C0K1, Q9NSA4, S39A8_HUMAN, uc003hwb.1, uc003hwb.2, ZIP8
UCSC ID: ENST00000394833.6
RefSeq Accession: NM_022154
Protein: Q9C0K1 (aka S39A8_HUMAN)
CCDS: CCDS3656.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SLC39A8:
slc39a8-cdg (SLC39A8-CDG)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.