Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q504Y0 (S39AC_HUMAN)

Protein

Zinc transporter ZIP12

Gene

SLC39A12

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

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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processIon transport, Transport, Zinc transport
LigandZinc

Protein family/group databases

TCDBi2.A.5.4.14 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc transporter ZIP12
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000148482.11
HGNCiHGNC:20860 SLC39A12
MIMi608734 gene
neXtProtiNX_Q504Y0

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
Topological domaini1 – 202ExtracellularSequence analysisAdd BLAST202
Transmembranei203 – 223HelicalSequence analysisAdd BLAST21
Topological domaini224 – 369CytoplasmicSequence analysisAdd BLAST146
Transmembranei370 – 390HelicalSequence analysisAdd BLAST21
Topological domaini391 – 398ExtracellularSequence analysis8
Transmembranei399 – 419HelicalSequence analysisAdd BLAST21
Topological domaini420 – 448CytoplasmicSequence analysisAdd BLAST29
Transmembranei449 – 469HelicalSequence analysisAdd BLAST21
Topological domaini470 – 538ExtracellularSequence analysisAdd BLAST69
Transmembranei539 – 559HelicalSequence analysisAdd BLAST21
Topological domaini560 – 602CytoplasmicSequence analysisAdd BLAST43
Transmembranei603 – 623HelicalSequence analysisAdd BLAST21
Topological domaini624 – 631ExtracellularSequence analysis8
Transmembranei632 – 652HelicalSequence analysisAdd BLAST21
Topological domaini653 – 663CytoplasmicSequence analysisAdd BLAST11
Transmembranei664 – 684HelicalSequence analysisAdd BLAST21
Topological domaini685 – 691ExtracellularSequence analysis7

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi221074
OpenTargetsiENSG00000148482
PharmGKBiPA134956205

Polymorphism and mutation databases

BioMutaiSLC39A12
DMDMi313104190

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003124971 – 691Zinc transporter ZIP12Add BLAST691

Proteomic databases

PaxDbiQ504Y0
PeptideAtlasiQ504Y0
PRIDEiQ504Y0
ProteomicsDBi62411
62412 [Q504Y0-2]
62413 [Q504Y0-3]
62414 [Q504Y0-4]

PTM databases

iPTMnetiQ504Y0
PhosphoSitePlusiQ504Y0

Expressioni

Tissue specificityi

Expressed in brain and eye.2 Publications

Gene expression databases

BgeeiENSG00000148482 Expressed in 60 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_SLC39A12
GenevisibleiQ504Y0 HS

Interactioni

Protein-protein interaction databases

BioGridi128681, 81 interactors
STRINGi9606.ENSP00000366586

Structurei

3D structure databases

ProteinModelPortaliQ504Y0
SMRiQ504Y0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi580 – 585XEXPHE-motif6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi116 – 119Poly-Leu4
Compositional biasi564 – 569Poly-Ser6
Compositional biasi677 – 682Poly-Leu6

Sequence similaritiesi

Belongs to the ZIP transporter (TC 2.A.5) family. [View classification]Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2693 Eukaryota
COG0428 LUCA
GeneTreeiENSGT00760000119115
HOVERGENiHBG108449
InParanoidiQ504Y0
KOiK14718
OMAiRRPWLMF
OrthoDBiEOG091G035V
PhylomeDBiQ504Y0
TreeFamiTF318470

Family and domain databases

InterProiView protein in InterPro
IPR003689 ZIP
PfamiView protein in Pfam
PF02535 Zip, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q504Y0-1) [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
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
Length:691
Mass (Da):76,666
Last modified:November 30, 2010 - v3
Checksum:iEB5959BDFD229D04
GO
Isoform 2 (identifier: Q504Y0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     343-407: QLLSCSCHLP...RLILQLFVGL → RWSFSIAVRR...SMKAKVIFGN
     408-691: Missing.

Note: No experimental confirmation available.
Show »
Length:404
Mass (Da):45,813
Checksum:i4B36E204882F93B2
GO
Isoform 3 (identifier: Q504Y0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     475-511: Missing.

Note: No experimental confirmation available.
Show »
Length:654
Mass (Da):72,864
Checksum:i13C4765D5F82A708
GO
Isoform 4 (identifier: Q504Y0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     475-475: Missing.

Note: No experimental confirmation available.
Show »
Length:690
Mass (Da):76,538
Checksum:iEBFE5BE2E8F4C877
GO
Isoform 5 (identifier: Q504Y0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-134: Missing.

Show »
Length:557
Mass (Da):61,643
Checksum:iE3C90A4E5412F2F3
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti287D → G in BAB70848 (PubMed:14702039).Curated1
Sequence conflicti316L → R in AAH47635 (PubMed:15489334).Curated1
Sequence conflicti423Q → R in BAH12025 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03751636S → G2 PublicationsCorresponds to variant dbSNP:rs10764176Ensembl.1
Natural variantiVAR_037517244T → M. Corresponds to variant dbSNP:rs7899328Ensembl.1
Natural variantiVAR_037518304V → I1 PublicationCorresponds to variant dbSNP:rs2478568Ensembl.1
Natural variantiVAR_037519435F → L. Corresponds to variant dbSNP:rs11011935Ensembl.1
Natural variantiVAR_037520471P → T in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0575941 – 134Missing in isoform 5. Add BLAST134
Alternative sequenceiVSP_029847343 – 407QLLSC…LFVGL → RWSFSIAVRRTTGLSYSCLW AWPSGHCLGTLCSTLSLRFL VYISRKPQNLGISMKAKVIF GN in isoform 2. 1 PublicationAdd BLAST65
Alternative sequenceiVSP_029848408 – 691Missing in isoform 2. 1 PublicationAdd BLAST284
Alternative sequenceiVSP_029849475 – 511Missing in isoform 3. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_029850475Missing in isoform 4. Curated1

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
CCDSiCCDS44362.1 [Q504Y0-1]
CCDS60493.1 [Q504Y0-4]
CCDS60494.1 [Q504Y0-5]
CCDS7124.1 [Q504Y0-3]
RefSeqiNP_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]
UniGeneiHs.350895

Genome annotation databases

EnsembliENST00000377369; ENSP00000366586; ENSG00000148482 [Q504Y0-1]
ENST00000377371; ENSP00000366588; ENSG00000148482 [Q504Y0-4]
ENST00000377374; ENSP00000366591; ENSG00000148482 [Q504Y0-3]
ENST00000539911; ENSP00000440445; ENSG00000148482 [Q504Y0-5]
GeneIDi221074
KEGGihsa:221074
UCSCiuc001ipn.3 human [Q504Y0-1]
uc010qck.1 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS44362.1 [Q504Y0-1]
CCDS60493.1 [Q504Y0-4]
CCDS60494.1 [Q504Y0-5]
CCDS7124.1 [Q504Y0-3]
RefSeqiNP_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]
UniGeneiHs.350895

3D structure databases

ProteinModelPortaliQ504Y0
SMRiQ504Y0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128681, 81 interactors
STRINGi9606.ENSP00000366586

Protein family/group databases

TCDBi2.A.5.4.14 the zinc (zn(2+))-iron (fe(2+)) permease (zip) family

PTM databases

iPTMnetiQ504Y0
PhosphoSitePlusiQ504Y0

Polymorphism and mutation databases

BioMutaiSLC39A12
DMDMi313104190

Proteomic databases

PaxDbiQ504Y0
PeptideAtlasiQ504Y0
PRIDEiQ504Y0
ProteomicsDBi62411
62412 [Q504Y0-2]
62413 [Q504Y0-3]
62414 [Q504Y0-4]

Protocols and materials databases

DNASUi221074
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000377369; ENSP00000366586; ENSG00000148482 [Q504Y0-1]
ENST00000377371; ENSP00000366588; ENSG00000148482 [Q504Y0-4]
ENST00000377374; ENSP00000366591; ENSG00000148482 [Q504Y0-3]
ENST00000539911; ENSP00000440445; ENSG00000148482 [Q504Y0-5]
GeneIDi221074
KEGGihsa:221074
UCSCiuc001ipn.3 human [Q504Y0-1]
uc010qck.1 human

Organism-specific databases

CTDi221074
DisGeNETi221074
EuPathDBiHostDB:ENSG00000148482.11
GeneCardsiSLC39A12
H-InvDBiHIX0008685
HIX0019390
HGNCiHGNC:20860 SLC39A12
MIMi608734 gene
neXtProtiNX_Q504Y0
OpenTargetsiENSG00000148482
PharmGKBiPA134956205
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2693 Eukaryota
COG0428 LUCA
GeneTreeiENSGT00760000119115
HOVERGENiHBG108449
InParanoidiQ504Y0
KOiK14718
OMAiRRPWLMF
OrthoDBiEOG091G035V
PhylomeDBiQ504Y0
TreeFamiTF318470

Miscellaneous databases

ChiTaRSiSLC39A12 human
GenomeRNAii221074
PROiPR:Q504Y0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148482 Expressed in 60 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_SLC39A12
GenevisibleiQ504Y0 HS

Family and domain databases

InterProiView protein in InterPro
IPR003689 ZIP
PfamiView protein in Pfam
PF02535 Zip, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiS39AC_HUMAN
AccessioniPrimary (citable) accession number: Q504Y0
Secondary accession number(s): B7Z2Y9
, B7ZL35, C9JJL4, F5GX72, Q49AN8, Q4G0L3, Q5VWV8, Q5VWV9, Q6NZY5, Q96NN4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 30, 2010
Last modified: November 7, 2018
This is version 99 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again