UniProtKB - Q504Y0 (S39AC_HUMAN)
Protein
Zinc transporter ZIP12
Gene
SLC39A12
Organism
Homo sapiens (Human)
Status
Functioni
Acts as a zinc-influx transporter (Potential). May be partly involved in the outbreak of schizophrenia.Curated
GO - Molecular functioni
- zinc ion transmembrane transporter activity Source: GO_Central
GO - Biological processi
- cellular zinc ion homeostasis Source: GO_Central
- positive regulation of sprouting angiogenesis Source: Ensembl
- regulation of microtubule polymerization Source: Ensembl
- regulation of neuron projection development Source: Ensembl
- response to decreased oxygen levels Source: Ensembl
- signal transduction Source: Ensembl
- zinc ion import across plasma membrane Source: GO_Central
Keywordsi
Biological process | Ion transport, Transport, Zinc transport |
Ligand | Zinc |
Enzyme and pathway databases
PathwayCommonsi | Q504Y0 |
Protein family/group databases
TCDBi | 2.A.5.4.14, the zinc (zn(2+))-iron (fe(2+)) permease (zip) family |
Names & Taxonomyi
Protein namesi | Recommended name: Zinc transporter ZIP12Alternative name(s): LIV-1 subfamily of ZIP zinc transporter 8 Short name: LZT-Hs8 Solute carrier family 39 member 12 Zrt- and Irt-like protein 12 Short name: ZIP-12 |
Gene namesi | Name:SLC39A12 Synonyms:ZIP12 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:20860, SLC39A12 |
MIMi | 608734, gene |
neXtProti | NX_Q504Y0 |
VEuPathDBi | HostDB:ENSG00000148482.11 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Extracellular region or secreted
- extracellular vesicle Source: UniProtKB
Plasma Membrane
- integral component of plasma membrane Source: GO_Central
Other locations
- perinuclear region of cytoplasm Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 202 | ExtracellularSequence analysisAdd BLAST | 202 | |
Transmembranei | 203 – 223 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 224 – 369 | CytoplasmicSequence analysisAdd BLAST | 146 | |
Transmembranei | 370 – 390 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 391 – 398 | ExtracellularSequence analysis | 8 | |
Transmembranei | 399 – 419 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 420 – 448 | CytoplasmicSequence analysisAdd BLAST | 29 | |
Transmembranei | 449 – 469 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 470 – 538 | ExtracellularSequence analysisAdd BLAST | 69 | |
Transmembranei | 539 – 559 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 560 – 602 | CytoplasmicSequence analysisAdd BLAST | 43 | |
Transmembranei | 603 – 623 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 624 – 631 | ExtracellularSequence analysis | 8 | |
Transmembranei | 632 – 652 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 653 – 663 | CytoplasmicSequence analysisAdd BLAST | 11 | |
Transmembranei | 664 – 684 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 685 – 691 | ExtracellularSequence analysis | 7 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 221074 |
OpenTargetsi | ENSG00000148482 |
PharmGKBi | PA134956205 |
Miscellaneous databases
Pharosi | Q504Y0, Tbio |
Chemistry databases
DrugBanki | DB14533, Zinc chloride DB14548, Zinc sulfate, unspecified form |
Genetic variation databases
BioMutai | SLC39A12 |
DMDMi | 313104190 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000312497 | 1 – 691 | Zinc transporter ZIP12Add BLAST | 691 |
Proteomic databases
MassIVEi | Q504Y0 |
PaxDbi | Q504Y0 |
PeptideAtlasi | Q504Y0 |
PRIDEi | Q504Y0 |
ProteomicsDBi | 24332 62411 [Q504Y0-1] 62412 [Q504Y0-2] 62413 [Q504Y0-3] 62414 [Q504Y0-4] |
PTM databases
iPTMneti | Q504Y0 |
PhosphoSitePlusi | Q504Y0 |
Expressioni
Tissue specificityi
Expressed in brain and eye.2 Publications
Gene expression databases
Bgeei | ENSG00000148482, Expressed in pigmented layer of retina and 68 other tissues |
Genevisiblei | Q504Y0, HS |
Organism-specific databases
HPAi | ENSG00000148482, Group enriched (brain, retina) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 128681, 81 interactors |
IntActi | Q504Y0, 70 interactors |
STRINGi | 9606.ENSP00000366586 |
Miscellaneous databases
RNActi | Q504Y0, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 580 – 585 | XEXPHE-motif | 6 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 116 – 119 | Poly-Leu | 4 | |
Compositional biasi | 564 – 569 | Poly-Ser | 6 | |
Compositional biasi | 677 – 682 | Poly-Leu | 6 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG2693, Eukaryota |
GeneTreei | ENSGT00940000157914 |
InParanoidi | Q504Y0 |
OMAi | NSCQETY |
OrthoDBi | 657777at2759 |
PhylomeDBi | Q504Y0 |
TreeFami | TF318470 |
Family and domain databases
InterProi | View protein in InterPro IPR003689, ZIP IPR041137, ZIP4_N |
Pfami | View protein in Pfam PF02535, Zip, 1 hit PF18292, ZIP4_domain, 1 hit |
s (5)i Sequence
Sequence statusi: Complete.
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q504Y0-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MCFRTKLSVS WVPLFLLLSR VFSTETDKPS AQDSRSRGSS GQPADLLQVL
60 70 80 90 100
SAGDHPPHNH SRSLIKTLLE KTGCPRRRNG MQGDCNLCFE PDALLLIAGG
110 120 130 140 150
NFEDQLREEV VQRVSLLLLY YIIHQEEICS SKLNMSNKEY KFYLHSLLSL
160 170 180 190 200
RQDEDSSFLS QNETEDILAF TRQYFDTSQS QCMETKTLQK KSGIVSSEGA
210 220 230 240 250
NESTLPQLAA MIITLSLQGV CLGQGNLPSP DYFTEYIFSS LNRTNTLRLS
260 270 280 290 300
ELDQLLNTLW TRSTCIKNEK IHQFQRKQNN IITHDQDYSN FSSSMEKESE
310 320 330 340 350
DGPVSWDQTC FSARQLVEIF LQKGLSLISK EDFKQMSPGI IQQLLSCSCH
360 370 380 390 400
LPKDQQAKLP PTTLEKYGYS TVAVTLLTLG SMLGTALVLF HSCEENYRLI
410 420 430 440 450
LQLFVGLAVG TLSGDALLHL IPQVLGLHKQ EAPEFGHFHE SKGHIWKLMG
460 470 480 490 500
LIGGIHGFFL IEKCFILLVS PNDKQGLSLV NGHVGHSHHL ALNSELSDQA
510 520 530 540 550
GRGKSASTIQ LKSPEDSQAA EMPIGSMTAS NRKCKAISLL AIMILVGDSL
560 570 580 590 600
HNFADGLAIG AAFSSSSESG VTTTIAILCH EIPHEMGDFA VLLSSGLSMK
610 620 630 640 650
TAILMNFISS LTAFMGLYIG LSVSADPCVQ DWIFTVTAGM FLYLSLVEML
660 670 680 690
PEMTHVQTQR PWMMFLLQNF GLILGWLSLL LLAIYEQNIK I
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 287 | D → G in BAB70848 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 316 | L → R in AAH47635 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 423 | Q → R in BAH12025 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_037516 | 36 | S → G2 PublicationsCorresponds to variant dbSNP:rs10764176Ensembl. | 1 | |
Natural variantiVAR_037517 | 244 | T → M. Corresponds to variant dbSNP:rs7899328Ensembl. | 1 | |
Natural variantiVAR_037518 | 304 | V → I1 PublicationCorresponds to variant dbSNP:rs2478568Ensembl. | 1 | |
Natural variantiVAR_037519 | 435 | F → L. Corresponds to variant dbSNP:rs11011935Ensembl. | 1 | |
Natural variantiVAR_037520 | 471 | P → T in a breast cancer sample; somatic mutation. 1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057594 | 1 – 134 | Missing in isoform 5. Add BLAST | 134 | |
Alternative sequenceiVSP_029847 | 343 – 407 | QLLSC…LFVGL → RWSFSIAVRRTTGLSYSCLW AWPSGHCLGTLCSTLSLRFL VYISRKPQNLGISMKAKVIF GN in isoform 2. 1 PublicationAdd BLAST | 65 | |
Alternative sequenceiVSP_029848 | 408 – 691 | Missing in isoform 2. 1 PublicationAdd BLAST | 284 | |
Alternative sequenceiVSP_029849 | 475 – 511 | Missing in isoform 3. 1 PublicationAdd BLAST | 37 | |
Alternative sequenceiVSP_029850 | 475 | Missing in isoform 4. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055061 mRNA Translation: BAB70848.1 AK295294 mRNA Translation: BAH12025.1 AC069023 Genomic DNA No translation available. AL360231 Genomic DNA No translation available. AL590111 Genomic DNA No translation available. BC035118 mRNA Translation: AAH35118.1 BC047635 mRNA Translation: AAH47635.1 BC065917 mRNA Translation: AAH65917.1 BC094700 mRNA Translation: AAH94700.1 BC117323 mRNA Translation: AAI17324.1 BC143551 mRNA Translation: AAI43552.1 |
CCDSi | CCDS44362.1 [Q504Y0-1] CCDS60493.1 [Q504Y0-4] CCDS60494.1 [Q504Y0-5] CCDS7124.1 [Q504Y0-3] |
RefSeqi | NP_001138667.1, NM_001145195.1 [Q504Y0-1] NP_001269662.1, NM_001282733.1 [Q504Y0-4] NP_001269663.1, NM_001282734.1 [Q504Y0-5] NP_689938.2, NM_152725.3 [Q504Y0-3] |
Genome annotation databases
Ensembli | ENST00000377369; ENSP00000366586; ENSG00000148482 [Q504Y0-1] ENST00000377371; ENSP00000366588; ENSG00000148482 [Q504Y0-4] ENST00000377374; ENSP00000366591; ENSG00000148482 [Q504Y0-3] ENST00000539911; ENSP00000440445; ENSG00000148482 [Q504Y0-5] |
GeneIDi | 221074 |
KEGGi | hsa:221074 |
UCSCi | uc001ipn.3, human [Q504Y0-1] uc010qck.1, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK055061 mRNA Translation: BAB70848.1 AK295294 mRNA Translation: BAH12025.1 AC069023 Genomic DNA No translation available. AL360231 Genomic DNA No translation available. AL590111 Genomic DNA No translation available. BC035118 mRNA Translation: AAH35118.1 BC047635 mRNA Translation: AAH47635.1 BC065917 mRNA Translation: AAH65917.1 BC094700 mRNA Translation: AAH94700.1 BC117323 mRNA Translation: AAI17324.1 BC143551 mRNA Translation: AAI43552.1 |
CCDSi | CCDS44362.1 [Q504Y0-1] CCDS60493.1 [Q504Y0-4] CCDS60494.1 [Q504Y0-5] CCDS7124.1 [Q504Y0-3] |
RefSeqi | NP_001138667.1, NM_001145195.1 [Q504Y0-1] NP_001269662.1, NM_001282733.1 [Q504Y0-4] NP_001269663.1, NM_001282734.1 [Q504Y0-5] NP_689938.2, NM_152725.3 [Q504Y0-3] |
3D structure databases
SMRi | Q504Y0 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 128681, 81 interactors |
IntActi | Q504Y0, 70 interactors |
STRINGi | 9606.ENSP00000366586 |
Chemistry databases
DrugBanki | DB14533, Zinc chloride DB14548, Zinc sulfate, unspecified form |
Protein family/group databases
TCDBi | 2.A.5.4.14, the zinc (zn(2+))-iron (fe(2+)) permease (zip) family |
PTM databases
iPTMneti | Q504Y0 |
PhosphoSitePlusi | Q504Y0 |
Genetic variation databases
BioMutai | SLC39A12 |
DMDMi | 313104190 |
Proteomic databases
MassIVEi | Q504Y0 |
PaxDbi | Q504Y0 |
PeptideAtlasi | Q504Y0 |
PRIDEi | Q504Y0 |
ProteomicsDBi | 24332 62411 [Q504Y0-1] 62412 [Q504Y0-2] 62413 [Q504Y0-3] 62414 [Q504Y0-4] |
Protocols and materials databases
Antibodypediai | 12047, 55 antibodies |
DNASUi | 221074 |
Genome annotation databases
Ensembli | ENST00000377369; ENSP00000366586; ENSG00000148482 [Q504Y0-1] ENST00000377371; ENSP00000366588; ENSG00000148482 [Q504Y0-4] ENST00000377374; ENSP00000366591; ENSG00000148482 [Q504Y0-3] ENST00000539911; ENSP00000440445; ENSG00000148482 [Q504Y0-5] |
GeneIDi | 221074 |
KEGGi | hsa:221074 |
UCSCi | uc001ipn.3, human [Q504Y0-1] uc010qck.1, human |
Organism-specific databases
CTDi | 221074 |
DisGeNETi | 221074 |
GeneCardsi | SLC39A12 |
HGNCi | HGNC:20860, SLC39A12 |
HPAi | ENSG00000148482, Group enriched (brain, retina) |
MIMi | 608734, gene |
neXtProti | NX_Q504Y0 |
OpenTargetsi | ENSG00000148482 |
PharmGKBi | PA134956205 |
VEuPathDBi | HostDB:ENSG00000148482.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2693, Eukaryota |
GeneTreei | ENSGT00940000157914 |
InParanoidi | Q504Y0 |
OMAi | NSCQETY |
OrthoDBi | 657777at2759 |
PhylomeDBi | Q504Y0 |
TreeFami | TF318470 |
Enzyme and pathway databases
PathwayCommonsi | Q504Y0 |
Miscellaneous databases
BioGRID-ORCSi | 221074, 3 hits in 867 CRISPR screens |
GenomeRNAii | 221074 |
Pharosi | Q504Y0, Tbio |
PROi | PR:Q504Y0 |
RNActi | Q504Y0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000148482, Expressed in pigmented layer of retina and 68 other tissues |
Genevisiblei | Q504Y0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003689, ZIP IPR041137, ZIP4_N |
Pfami | View protein in Pfam PF02535, Zip, 1 hit PF18292, ZIP4_domain, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | S39AC_HUMAN | |
Accessioni | Q504Y0Primary (citable) accession number: Q504Y0 Secondary accession number(s): B7Z2Y9 Q96NN4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 4, 2007 |
Last sequence update: | November 30, 2010 | |
Last modified: | February 10, 2021 | |
This is version 115 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with genetic variants
List of human entries with genetic variants