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Protein

Zinc transporter 9

Gene

SLC30A9

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

Functioni

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).By similarity1 Publication

GO - Molecular functioni

GO - Biological processi

  • cellular zinc ion homeostasis Source: UniProtKB
  • nucleotide-excision repair Source: BHF-UCL
  • positive regulation of transcription by RNA polymerase II Source: Ensembl
  • transcription, DNA-templated Source: UniProtKB-KW
  • zinc ion transport Source: UniProtKB

Keywordsi

Biological processIon transport, Transcription, Transcription regulation, Transport, Zinc transport
LigandZinc

Enzyme and pathway databases

SIGNORiQ6PML9

Protein family/group databases

TCDBi2.A.4.6.1 the cation diffusion facilitator (cdf) family

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc transporter 9
Short name:
ZnT-9
Alternative name(s):
Human embryonic lung protein1 Publication
Short name:
HuEL1 Publication
Solute carrier family 30 member 9
Gene namesi
Name:SLC30A9
Synonyms:C4orf1, HUEL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000014824.13
HGNCiHGNC:1329 SLC30A9
MIMi604604 gene
neXtProtiNX_Q6PML9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei239 – 259HelicalSequence analysisAdd BLAST21
Transmembranei314 – 334HelicalSequence analysisAdd BLAST21
Transmembranei342 – 362HelicalSequence analysisAdd BLAST21
Transmembranei392 – 412HelicalSequence analysisAdd BLAST21
Transmembranei424 – 444HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

Birk-Landau-Perez syndrome (BILAPES)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by early-childhood onset of different combinations of intellectual disability, muscle weakness, camptocormia, oculomotor apraxia, and nephropathy.
See also OMIM:617595
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079365350Missing in BILAPES; no effect on Wnt-signaling; no change in cytoplasmic vesicle subcellular location; decrease in cytosolic free zinc levels. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi10463
MalaCardsiSLC30A9
MIMi617595 phenotype
OpenTargetsiENSG00000014824
PharmGKBiPA25909

Polymorphism and mutation databases

BioMutaiSLC30A9
DMDMi74722746

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002958051 – 568Zinc transporter 9Add BLAST568

Proteomic databases

EPDiQ6PML9
MaxQBiQ6PML9
PaxDbiQ6PML9
PeptideAtlasiQ6PML9
PRIDEiQ6PML9
ProteomicsDBi67254

PTM databases

iPTMnetiQ6PML9
PhosphoSitePlusiQ6PML9

Expressioni

Tissue specificityi

Ubiquitously expressed in fetal and adult tissues and cancer cell lines.2 Publications

Gene expression databases

BgeeiENSG00000014824 Expressed in 239 organ(s), highest expression level in forebrain
CleanExiHS_SLC30A9
ExpressionAtlasiQ6PML9 baseline and differential
GenevisibleiQ6PML9 HS

Organism-specific databases

HPAiHPA004014

Interactioni

Subunit structurei

Interacts with GRIP1, ESR1 and AR.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi115726, 17 interactors
IntActiQ6PML9, 5 interactors
MINTiQ6PML9
STRINGi9606.ENSP00000264451

Structurei

Secondary structure

1568
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ6PML9
SMRiQ6PML9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6PML9

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi462 – 466LXXLL motif5

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2802 Eukaryota
COG0053 LUCA
GeneTreeiENSGT00390000008346
HOGENOMiHOG000242618
HOVERGENiHBG104893
InParanoidiQ6PML9
KOiK14696
OMAiSWYHGIM
OrthoDBiEOG091G05KM
PhylomeDBiQ6PML9
TreeFamiTF314526

Family and domain databases

Gene3Di1.20.1510.10, 1 hit
3.90.530.10, 1 hit
InterProiView protein in InterPro
IPR002524 Cation_efflux
IPR027469 Cation_efflux_TMD_sf
IPR009061 DNA-bd_dom_put_sf
IPR037129 XPA_sf
PfamiView protein in Pfam
PF01545 Cation_efflux, 1 hit
SUPFAMiSSF161111 SSF161111, 1 hit
SSF46955 SSF46955, 1 hit
TIGRFAMsiTIGR01297 CDF, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.iShow all

Q6PML9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLPGLAAAAA HRCSWSSLCR LRLRCRAAAC NPSDRQEWQN LVTFGSFSNM
60 70 80 90 100
VPCSHPYIGT LSQVKLYSTN VQKEGQGSQT LRVEKVPSFE TAEGIGTELK
110 120 130 140 150
APLKQEPLQV RVKAVLKKRE YGSKYTQNNF ITGVRAINEF CLKSSDLEQL
160 170 180 190 200
RKIRRRSPHE DTESFTVYLR SDVEAKSLEV WGSPEALARE KKLRKEAEIE
210 220 230 240 250
YRERLFRNQK ILREYRDFLG NTKPRSRTAS VFFKGPGKVV MVAICINGLN
260 270 280 290 300
CFFKFLAWIY TGSASMFSEA IHSLSDTCNQ GLLALGISKS VQTPDPSHPY
310 320 330 340 350
GFSNMRYISS LISGVGIFMM GAGLSWYHGV MGLLHPQPIE SLLWAYCILA
360 370 380 390 400
GSLVSEGATL LVAVNELRRN ARAKGMSFYK YVMESRDPST NVILLEDTAA
410 420 430 440 450
VLGVIIAATC MGLTSITGNP LYDSLGSLGV GTLLGMVSAF LIYTNTEALL
460 470 480 490 500
GRSIQPEQVQ RLTELLENDP SVRAIHDVKA TDLGLGKVRF KAEVDFDGRV
510 520 530 540 550
VTRSYLEKQD FDQMLQEIQE VKTPEELETF MLKHGENIID TLGAEVDRLE
560
KELKKRNPEV RHVDLEIL
Length:568
Mass (Da):63,515
Last modified:July 5, 2004 - v1
Checksum:iCA59839CA983FDC2
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6R9M6D6R9M6_HUMAN
Zinc transporter 9
SLC30A9
119Annotation score:

Sequence cautioni

The sequence AAP83846 differs from that shown. Unlikely isoform. Aberrant splice sites.Curated
The sequence AAY40966 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti141C → Y in AAP83846 (Ref. 3) Curated1
Sequence conflicti356E → V in AAP83846 (Ref. 3) Curated1
Sequence conflicti401V → A in AAH22981 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05200350M → V3 PublicationsCorresponds to variant dbSNP:rs1047626Ensembl.1
Natural variantiVAR_05200497T → A3 PublicationsCorresponds to variant dbSNP:rs2581423Ensembl.1
Natural variantiVAR_079365350Missing in BILAPES; no effect on Wnt-signaling; no change in cytoplasmic vesicle subcellular location; decrease in cytosolic free zinc levels. 1 Publication1
Natural variantiVAR_052005353L → S. Corresponds to variant dbSNP:rs1801962Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006621 mRNA Translation: AAB87763.2
AY319413 mRNA Translation: AAP83846.1 Sequence problems.
AY594282 mRNA Translation: AAT02479.1
AC113151 Genomic DNA Translation: AAY40966.1 Sequence problems.
BC007732 mRNA Translation: AAH07732.1
BC016949 mRNA Translation: AAH16949.1
BC022981 mRNA Translation: AAH22981.1
CCDSiCCDS3465.1
RefSeqiNP_006336.3, NM_006345.3
UniGeneiHs.479634

Genome annotation databases

EnsembliENST00000264451; ENSP00000264451; ENSG00000014824
GeneIDi10463
KEGGihsa:10463
UCSCiuc003gwl.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006621 mRNA Translation: AAB87763.2
AY319413 mRNA Translation: AAP83846.1 Sequence problems.
AY594282 mRNA Translation: AAT02479.1
AC113151 Genomic DNA Translation: AAY40966.1 Sequence problems.
BC007732 mRNA Translation: AAH07732.1
BC016949 mRNA Translation: AAH16949.1
BC022981 mRNA Translation: AAH22981.1
CCDSiCCDS3465.1
RefSeqiNP_006336.3, NM_006345.3
UniGeneiHs.479634

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2ENKNMR-A124-217[»]
ProteinModelPortaliQ6PML9
SMRiQ6PML9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115726, 17 interactors
IntActiQ6PML9, 5 interactors
MINTiQ6PML9
STRINGi9606.ENSP00000264451

Protein family/group databases

TCDBi2.A.4.6.1 the cation diffusion facilitator (cdf) family

PTM databases

iPTMnetiQ6PML9
PhosphoSitePlusiQ6PML9

Polymorphism and mutation databases

BioMutaiSLC30A9
DMDMi74722746

Proteomic databases

EPDiQ6PML9
MaxQBiQ6PML9
PaxDbiQ6PML9
PeptideAtlasiQ6PML9
PRIDEiQ6PML9
ProteomicsDBi67254

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264451; ENSP00000264451; ENSG00000014824
GeneIDi10463
KEGGihsa:10463
UCSCiuc003gwl.4 human

Organism-specific databases

CTDi10463
DisGeNETi10463
EuPathDBiHostDB:ENSG00000014824.13
GeneCardsiSLC30A9
H-InvDBiHIX0004181
HGNCiHGNC:1329 SLC30A9
HPAiHPA004014
MalaCardsiSLC30A9
MIMi604604 gene
617595 phenotype
neXtProtiNX_Q6PML9
OpenTargetsiENSG00000014824
PharmGKBiPA25909
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2802 Eukaryota
COG0053 LUCA
GeneTreeiENSGT00390000008346
HOGENOMiHOG000242618
HOVERGENiHBG104893
InParanoidiQ6PML9
KOiK14696
OMAiSWYHGIM
OrthoDBiEOG091G05KM
PhylomeDBiQ6PML9
TreeFamiTF314526

Enzyme and pathway databases

SIGNORiQ6PML9

Miscellaneous databases

ChiTaRSiSLC30A9 human
EvolutionaryTraceiQ6PML9
GenomeRNAii10463
PROiPR:Q6PML9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000014824 Expressed in 239 organ(s), highest expression level in forebrain
CleanExiHS_SLC30A9
ExpressionAtlasiQ6PML9 baseline and differential
GenevisibleiQ6PML9 HS

Family and domain databases

Gene3Di1.20.1510.10, 1 hit
3.90.530.10, 1 hit
InterProiView protein in InterPro
IPR002524 Cation_efflux
IPR027469 Cation_efflux_TMD_sf
IPR009061 DNA-bd_dom_put_sf
IPR037129 XPA_sf
PfamiView protein in Pfam
PF01545 Cation_efflux, 1 hit
SUPFAMiSSF161111 SSF161111, 1 hit
SSF46955 SSF46955, 1 hit
TIGRFAMsiTIGR01297 CDF, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiZNT9_HUMAN
AccessioniPrimary (citable) accession number: Q6PML9
Secondary accession number(s): Q4W5B6
, Q7Z5I7, Q8TBB2, Q9Y6R2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 121 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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