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Protein

Zinc transporter 10

Gene

SLC30A10

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.2 Publications

GO - Molecular functioni

GO - Biological processi

  • manganese ion transport Source: UniProtKB
  • zinc II ion transport Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Ion transport, Transport, Zinc transport

Keywords - Ligandi

Zinc

Protein family/group databases

TCDBi2.A.4.2.5. the cation diffusion facilitator (cdf) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc transporter 10
Short name:
ZnT-10
Alternative name(s):
Solute carrier family 30 member 10
Gene namesi
Name:SLC30A10
Synonyms:ZNT10, ZNT8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:25355. SLC30A10.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 1010CytoplasmicSequence Analysis
Transmembranei11 – 3121HelicalSequence AnalysisAdd
BLAST
Topological domaini32 – 409ExtracellularSequence Analysis
Transmembranei41 – 6121HelicalSequence AnalysisAdd
BLAST
Topological domaini62 – 8120CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei82 – 10221HelicalSequence AnalysisAdd
BLAST
Topological domaini103 – 11311ExtracellularSequence AnalysisAdd
BLAST
Transmembranei114 – 13421HelicalSequence AnalysisAdd
BLAST
Topological domaini135 – 244110CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei245 – 26521HelicalSequence AnalysisAdd
BLAST
Topological domaini266 – 27813ExtracellularSequence AnalysisAdd
BLAST
Transmembranei279 – 29921HelicalSequence AnalysisAdd
BLAST
Topological domaini300 – 485186CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC)2 Publications

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA metabolic autosomal recessive disorder characterized by dystonia, parkinsonism, extrapyramidal signs, severe hypermanganesemia, polycythemia, and chronic hepatic disease, including steatosis and cirrhosis.

See also OMIM:613280
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891L → P in HMDPC. 1 Publication
VAR_072573
Natural varianti105 – 1073Missing in HMDPC. 1 Publication
VAR_072574
Natural varianti256 – 2561Missing in HMDPC. 1 Publication
VAR_072576
Natural varianti349 – 3491L → P in HMDPC. 1 Publication
VAR_072577

Keywords - Diseasei

Disease mutation, Dystonia, Parkinsonism

Organism-specific databases

MIMi613280. phenotype.
Orphaneti309854. Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome.
PharmGKBiPA142670903.

Polymorphism and mutation databases

BioMutaiSLC30A10.
DMDMi311033506.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 485485Zinc transporter 10PRO_0000312580Add
BLAST

Proteomic databases

MaxQBiQ6XR72.
PaxDbiQ6XR72.
PRIDEiQ6XR72.

PTM databases

PhosphoSiteiQ6XR72.

Expressioni

Tissue specificityi

Specifically expressed in fetal liver and fetal brain.1 Publication

Inductioni

Down-regulated by ZNF658 in response to zinc.1 Publication

Gene expression databases

BgeeiQ6XR72.
CleanExiHS_SLC30A10.
GenevisibleiQ6XR72. HS.

Organism-specific databases

HPAiHPA017989.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000355893.

Structurei

3D structure databases

ProteinModelPortaliQ6XR72.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi253 – 2564Poly-Val
Compositional biasi396 – 3994Poly-Leu

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1230.
GeneTreeiENSGT00550000074381.
HOGENOMiHOG000166089.
HOVERGENiHBG000588.
InParanoidiQ6XR72.
KOiK14697.
OMAiHEVHVWE.
OrthoDBiEOG7034GQ.
PhylomeDBiQ6XR72.
TreeFamiTF313924.

Family and domain databases

Gene3Di1.20.1510.10. 2 hits.
InterProiIPR002524. Cation_efflux.
IPR027469. Cation_efflux_TMD.
[Graphical view]
PANTHERiPTHR11562. PTHR11562. 1 hit.
PfamiPF01545. Cation_efflux. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01297. CDF. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6XR72-4) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGRYSGKTCR LLFMLVLTVA FFVAELVSGY LGNSIALLSD SFNMLSDLIS
60 70 80 90 100
LCVGLSAGYI ARRPTRGFSA TYGYARAEVV GALSNAVFLT ALCFTIFVEA
110 120 130 140 150
VLRLARPERI DDPELVLIVG VLGLLVNVVG LLIFQDCAAW FACCLRGRSR
160 170 180 190 200
RLQQRQQLAE GCVPGAFGGP QGAEDPRRAA DPTAPGSDSA VTLRGTSVER
210 220 230 240 250
KREKGATVFA NVAGDSFNTQ NEPEDMMKKE KKSEALNIRG VLLHVMGDAL
260 270 280 290 300
GSVVVVITAI IFYVLPLKSE DPCNWQCYID PSLTVLMVII ILSSAFPLIK
310 320 330 340 350
ETAAILLQMV PKGVNMEELM SKLSAVPGIS SVHEVHIWEL VSGKIIATLH
360 370 380 390 400
IKYPKDRGYQ DASTKIREIF HHAGIHNVTI QFENVDLKEP LEQKDLLLLC
410 420 430 440 450
NSPCISKGCA KQLCCPPGAL PLAHVNGCAE HNGGPSLDTY GSDGLSRRDA
460 470 480
REVAIEVSLD SCLSDHGQSL NKTQEDQCYV NRTHF
Length:485
Mass (Da):52,684
Last modified:November 2, 2010 - v2
Checksum:i96A3495EF026DE94
GO
Isoform 2 (identifier: Q6XR72-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-245: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:240
Mass (Da):26,289
Checksum:i8D3C17D391E719E6
GO
Isoform 3 (identifier: Q6XR72-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     214-223: GDSFNTQNEP → ELIHNTRFLL
     224-485: Missing.

Note: No experimental confirmation available.
Show »
Length:223
Mass (Da):24,009
Checksum:i3A7FDB2E11FF9459
GO

Sequence cautioni

The sequence AAP44332.1 differs from that shown.Contaminating sequence. Sequence of unknown origin in position 427.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti89 – 891L → P in HMDPC. 1 Publication
VAR_072573
Natural varianti105 – 1073Missing in HMDPC. 1 Publication
VAR_072574
Natural varianti167 – 1671F → S.1 Publication
VAR_072575
Natural varianti256 – 2561Missing in HMDPC. 1 Publication
VAR_072576
Natural varianti349 – 3491L → P in HMDPC. 1 Publication
VAR_072577

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 245245Missing in isoform 2. 1 PublicationVSP_029863Add
BLAST
Alternative sequencei214 – 22310GDSFNTQNEP → ELIHNTRFLL in isoform 3. 1 PublicationVSP_029864
Alternative sequencei224 – 485262Missing in isoform 3. 1 PublicationVSP_029865Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY212919 mRNA. Translation: AAP44332.1. Sequence problems.
AL359609 mRNA. Translation: CAB94880.1.
AC093562 Genomic DNA. No translation available.
BC036078 mRNA. Translation: AAH36078.1.
CCDSiCCDS31026.1. [Q6XR72-4]
PIRiT50628.
RefSeqiNP_061183.2. NM_018713.2. [Q6XR72-4]
UniGeneiHs.284450.

Genome annotation databases

EnsembliENST00000356609; ENSP00000349018; ENSG00000196660. [Q6XR72-3]
ENST00000366926; ENSP00000355893; ENSG00000196660. [Q6XR72-4]
GeneIDi55532.
KEGGihsa:55532.
UCSCiuc001hlv.3. human. [Q6XR72-2]
uc001hlw.3. human. [Q6XR72-4]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY212919 mRNA. Translation: AAP44332.1. Sequence problems.
AL359609 mRNA. Translation: CAB94880.1.
AC093562 Genomic DNA. No translation available.
BC036078 mRNA. Translation: AAH36078.1.
CCDSiCCDS31026.1. [Q6XR72-4]
PIRiT50628.
RefSeqiNP_061183.2. NM_018713.2. [Q6XR72-4]
UniGeneiHs.284450.

3D structure databases

ProteinModelPortaliQ6XR72.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000355893.

Protein family/group databases

TCDBi2.A.4.2.5. the cation diffusion facilitator (cdf) family.

PTM databases

PhosphoSiteiQ6XR72.

Polymorphism and mutation databases

BioMutaiSLC30A10.
DMDMi311033506.

Proteomic databases

MaxQBiQ6XR72.
PaxDbiQ6XR72.
PRIDEiQ6XR72.

Protocols and materials databases

DNASUi55532.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356609; ENSP00000349018; ENSG00000196660. [Q6XR72-3]
ENST00000366926; ENSP00000355893; ENSG00000196660. [Q6XR72-4]
GeneIDi55532.
KEGGihsa:55532.
UCSCiuc001hlv.3. human. [Q6XR72-2]
uc001hlw.3. human. [Q6XR72-4]

Organism-specific databases

CTDi55532.
GeneCardsiGC01M219858.
GeneReviewsiSLC30A10.
H-InvDBHIX0001600.
HGNCiHGNC:25355. SLC30A10.
HPAiHPA017989.
MIMi611146. gene.
613280. phenotype.
neXtProtiNX_Q6XR72.
Orphaneti309854. Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome.
PharmGKBiPA142670903.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiCOG1230.
GeneTreeiENSGT00550000074381.
HOGENOMiHOG000166089.
HOVERGENiHBG000588.
InParanoidiQ6XR72.
KOiK14697.
OMAiHEVHVWE.
OrthoDBiEOG7034GQ.
PhylomeDBiQ6XR72.
TreeFamiTF313924.

Miscellaneous databases

GenomeRNAii55532.
NextBioi59970.
PROiQ6XR72.
SOURCEiSearch...

Gene expression databases

BgeeiQ6XR72.
CleanExiHS_SLC30A10.
GenevisibleiQ6XR72. HS.

Family and domain databases

Gene3Di1.20.1510.10. 2 hits.
InterProiIPR002524. Cation_efflux.
IPR027469. Cation_efflux_TMD.
[Graphical view]
PANTHERiPTHR11562. PTHR11562. 1 hit.
PfamiPF01545. Cation_efflux. 1 hit.
[Graphical view]
TIGRFAMsiTIGR01297. CDF. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Characterization of a novel mammalian zinc transporter, ZNT8."
    Huang L., Zhou B., Gitschier J.
    Submitted (JAN-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 90-485 (ISOFORM 3).
    Tissue: Brain.
  5. "In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression."
    Seve M., Chimienti F., Devergnas S., Favier A.
    BMC Genomics 5:32-32(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  6. "Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man."
    Tuschl K., Clayton P.T., Gospe S.M. Jr., Gulab S., Ibrahim S., Singhi P., Aulakh R., Ribeiro R.T., Barsottini O.G., Zaki M.S., Del Rosario M.L., Dyack S., Price V., Rideout A., Gordon K., Wevers R.A., Chong W.K., Mills P.B.
    Am. J. Hum. Genet. 90:457-466(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INVOLVEMENT IN HMDPC, VARIANTS HMDPC PRO-89; 105-ALA--PRO-107 DEL; VAL-256 DEL AND PRO-349.
  7. Cited for: FUNCTION, INVOLVEMENT IN HMDPC, VARIANT SER-167.
  8. "The zinc finger protein ZNF658 regulates the transcription of genes involved in zinc homeostasis and affects ribosome biogenesis through the zinc transcriptional regulatory element."
    Ogo O.A., Tyson J., Cockell S.J., Howard A., Valentine R.A., Ford D.
    Mol. Cell. Biol. 35:977-987(2015) [PubMed] [Europe PMC] [Abstract]
    Cited for: INDUCTION.

Entry informationi

Entry nameiZNT10_HUMAN
AccessioniPrimary (citable) accession number: Q6XR72
Secondary accession number(s): Q49AL9, Q9NPW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 2, 2010
Last modified: June 24, 2015
This is version 95 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.