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Protein

Zinc transporter ZIP14

Gene

SLC39A14

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

Functioni

Broad-scope metal ion transporter with a preference for zinc uptake. Also mediates cellular uptake of nontransferrin-bound iron.2 Publications

GO - Molecular functioni

GO - Biological processi

  • cellular zinc ion homeostasis Source: BHF-UCL
  • zinc II ion transmembrane import Source: BHF-UCL
  • zinc II ion transmembrane transport Source: BHF-UCL

Keywordsi

Biological processIon transport, Transport, Zinc transport
LigandZinc

Enzyme and pathway databases

ReactomeiR-HSA-442380. Zinc influx into cells by the SLC39 gene family.

Protein family/group databases

TCDBi2.A.5.4.5. the zinc (zn(2+))-iron (fe(2+)) permease (zip) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc transporter ZIP14
Alternative name(s):
LIV-1 subfamily of ZIP zinc transporter 4
Short name:
LZT-Hs4
Solute carrier family 39 member 14
Zrt- and Irt-like protein 14
Short name:
ZIP-14
Gene namesi
Name:SLC39A14
Synonyms:KIAA0062, ZIP14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:20858. SLC39A14.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini31 – 157ExtracellularSequence analysisAdd BLAST127
Transmembranei158 – 178HelicalSequence analysisAdd BLAST21
Topological domaini179 – 186CytoplasmicSequence analysis8
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Topological domaini208 – 224ExtracellularSequence analysisAdd BLAST17
Transmembranei225 – 245HelicalSequence analysisAdd BLAST21
Topological domaini246 – 397CytoplasmicSequence analysisAdd BLAST152
Transmembranei398 – 418HelicalSequence analysisAdd BLAST21
Topological domaini419 – 424ExtracellularSequence analysis6
Transmembranei425 – 445HelicalSequence analysisAdd BLAST21
Topological domaini446 – 460CytoplasmicSequence analysisAdd BLAST15
Transmembranei461 – 481HelicalSequence analysisAdd BLAST21
Topological domaini482 – 492ExtracellularSequence analysisAdd BLAST11

GO - Cellular componenti

  • cytoplasm Source: UniProtKB
  • integral component of membrane Source: BHF-UCL
  • integral component of plasma membrane Source: BHF-UCL
  • lamellipodium Source: UniProtKB-SubCell
  • plasma membrane Source: UniProtKB

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Membrane

Pathology & Biotechi

Involvement in diseasei

Hypermanganesemia with dystonia 2 (HMNDYT2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA metabolic autosomal recessive disorder characterized by increased blood manganese levels, neurodegeneration, and rapidly progressive parkinsonism and dystonia. Affected individuals present with loss of developmental milestones, progressive dystonia and bulbar dysfunction in infancy or early childhood. Towards the end of the first decade, they manifest severe generalized pharmacoresistant dystonia, spasticity, limb contractures and scoliosis, and loss of independent ambulation. Cognition may be impaired, but is better preserved than motor function.
See also OMIM:617013
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07700498F → V in HMNDYT2; no effect on protein abundance; no effect on subcellular localization at the plasma membrane and within the cytoplasm; decreased manganese ion transmembrane transporter activity. 1 Publication1
Natural variantiVAR_077005383G → R in HMNDYT2; no effect on protein abundance; no effect on subcellular localization at the plasma membrane and within the cytoplasm; decreased manganese ion transmembrane transporter activity. 1 Publication1
Natural variantiVAR_077006469N → K in HMNDYT2; no effect on protein abundance; no effect on subcellular localization at the plasma membrane and within the cytoplasm; decreased manganese ion transmembrane transporter activity. 1 Publication1

Keywords - Diseasei

Disease mutation, Dystonia, Neurodegeneration, Parkinsonism

Organism-specific databases

DisGeNETi23516.
MIMi617013. phenotype.
OpenTargetsiENSG00000104635.
PharmGKBiPA134863701.

Polymorphism and mutation databases

BioMutaiSLC39A14.
DMDMi313104191.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 30Sequence analysisAdd BLAST30
ChainiPRO_000031219431 – 492Zinc transporter ZIP14Add BLAST462

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi77N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi102N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ15043.
MaxQBiQ15043.
PaxDbiQ15043.
PeptideAtlasiQ15043.
PRIDEiQ15043.

PTM databases

iPTMnetiQ15043.
PhosphoSitePlusiQ15043.

Expressioni

Tissue specificityi

Expressed in liver and in brain by large neurons in the globus pallidus, the insular cortex and the dentate nucleus and to a lower extent in the putamen and the caudate nucleus (at protein level) (PubMed:27231142). Isoform 1 is ubiquitously expressed, with increased expression in liver, pancreas, fetal liver, thyroid gland, left and right ventricle, right atrium and fetal heart. Weakly expressed in spleen, thymus, and peripheral blood leukocytes (PubMed:15642354, PubMed:7584044, PubMed:27231142). Isoform 3 is widely expressed but not detected in brain, heart, skeletal muscle and fetal skin (PubMed:27231142).3 Publications

Gene expression databases

BgeeiENSG00000104635.
CleanExiHS_SLC39A14.
ExpressionAtlasiQ15043. baseline and differential.
GenevisibleiQ15043. HS.

Organism-specific databases

HPAiHPA016508.

Interactioni

Subunit structurei

Homotrimer.1 Publication

Protein-protein interaction databases

BioGridi117063. 5 interactors.
IntActiQ15043. 6 interactors.
MINTiMINT-5004639.
STRINGi9606.ENSP00000289952.

Structurei

3D structure databases

ProteinModelPortaliQ15043.
SMRiQ15043.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi251 – 258HHHGHXHX-motif8
Motifi376 – 381XEXPHE-motif6

Sequence similaritiesi

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2693. Eukaryota.
COG0428. LUCA.
GeneTreeiENSGT00760000119115.
HOGENOMiHOG000070225.
HOVERGENiHBG108450.
InParanoidiQ15043.
KOiK14720.
OMAiCCCYLGM.
OrthoDBiEOG091G064Y.
PhylomeDBiQ15043.
TreeFamiTF318470.

Family and domain databases

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

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Isoform 1 (identifier: Q15043-1) [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
MKLLLLHPAF QSCLLLTLLG LWRTTPEAHA SSLGAPAISA ASFLQDLIHR
60 70 80 90 100
YGEGDSLTLQ QLKALLNHLD VGVGRGNVTQ HVQGHRNLST CFSSGDLFTA
110 120 130 140 150
HNFSEQSRIG SSELQEFCPT ILQQLDSRAC TSENQENEEN EQTEEGRPSA
160 170 180 190 200
VEVWGYGLLC VTVISLCSLL GASVVPFMKK TFYKRLLLYF IALAIGTLYS
210 220 230 240 250
NALFQLIPEA FGFNPLEDYY VSKSAVVFGG FYLFFFTEKI LKILLKQKNE
260 270 280 290 300
HHHGHSHYAS ESLPSKKDQE EGVMEKLQNG DLDHMIPQHC SSELDGKAPM
310 320 330 340 350
VDEKVIVGSL SVQDLQASQS ACYWLKGVRY SDIGTLAWMI TLSDGLHNFI
360 370 380 390 400
DGLAIGASFT VSVFQGISTS VAILCEEFPH ELGDFVILLN AGMSIQQALF
410 420 430 440 450
FNFLSACCCY LGLAFGILAG SHFSANWIFA LAGGMFLYIS LADMFPEMNE
460 470 480 490
VCQEDERKGS ILIPFIIQNL GLLTGFTIMV VLTMYSGQIQ IG
Length:492
Mass (Da):54,212
Last modified:November 30, 2010 - v3
Checksum:iF2ACE1DA4656A5F0
GO
Isoform 2 (identifier: Q15043-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     445-492: FPEMNEVCQE...TMYSGQIQIG → MEFCSVAQAG...RLSCLSLPSN

Note: No experimental confirmation available.
Show »
Length:481
Mass (Da):52,839
Checksum:iDC2788F667F06D95
GO
Isoform 3 (identifier: Q15043-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     156-199: YGLLCVTVIS...FIALAIGTLY → FGFLSVSLIN...FIALSIGTLL

Show »
Length:492
Mass (Da):54,057
Checksum:i5D5503F24F952500
GO

Sequence cautioni

The sequence BAA06685 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti57L → P in BAD18780 (PubMed:14702039).Curated1
Sequence conflicti314D → G in BAG58625 (PubMed:14702039).Curated1
Sequence conflicti380H → R in BAD18780 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03745033L → P1 PublicationCorresponds to variant dbSNP:rs896378Ensembl.1
Natural variantiVAR_07700498F → V in HMNDYT2; no effect on protein abundance; no effect on subcellular localization at the plasma membrane and within the cytoplasm; decreased manganese ion transmembrane transporter activity. 1 Publication1
Natural variantiVAR_077005383G → R in HMNDYT2; no effect on protein abundance; no effect on subcellular localization at the plasma membrane and within the cytoplasm; decreased manganese ion transmembrane transporter activity. 1 Publication1
Natural variantiVAR_077006469N → K in HMNDYT2; no effect on protein abundance; no effect on subcellular localization at the plasma membrane and within the cytoplasm; decreased manganese ion transmembrane transporter activity. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_040139156 – 199YGLLC…IGTLY → FGFLSVSLINLASLLGVLVL PCTEKAFFSRVLTYFIALSI GTLL in isoform 3. 1 PublicationAdd BLAST44
Alternative sequenceiVSP_029728445 – 492FPEMN…QIQIG → MEFCSVAQAGVQWCHLSSLQ PLPLGLKRLSCLSLPSN in isoform 2. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D31887 mRNA. Translation: BAA06685.1. Different initiation.
AK172810 mRNA. Translation: BAD18780.1.
AK295807 mRNA. Translation: BAG58625.1.
AC087854 Genomic DNA. No translation available.
AC105910 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63681.1.
CH471080 Genomic DNA. Translation: EAW63682.1.
CH471080 Genomic DNA. Translation: EAW63683.1.
BC015770 mRNA. Translation: AAH15770.1.
CCDSiCCDS47822.1. [Q15043-2]
CCDS47823.1. [Q15043-1]
CCDS6030.1. [Q15043-3]
RefSeqiNP_001121903.1. NM_001128431.2. [Q15043-1]
NP_001128625.1. NM_001135153.1. [Q15043-1]
NP_001128626.1. NM_001135154.1. [Q15043-2]
NP_056174.2. NM_015359.4. [Q15043-3]
XP_005273522.1. XM_005273465.2. [Q15043-1]
XP_005273523.1. XM_005273466.4. [Q15043-1]
XP_006716387.1. XM_006716324.2. [Q15043-1]
XP_011542780.1. XM_011544478.2. [Q15043-1]
XP_016868783.1. XM_017013294.1. [Q15043-1]
XP_016868784.1. XM_017013295.1. [Q15043-1]
UniGeneiHs.491232.

Genome annotation databases

EnsembliENST00000240095; ENSP00000240095; ENSG00000104635. [Q15043-2]
ENST00000289952; ENSP00000289952; ENSG00000104635. [Q15043-1]
ENST00000359741; ENSP00000352779; ENSG00000104635. [Q15043-3]
ENST00000381237; ENSP00000370635; ENSG00000104635. [Q15043-1]
GeneIDi23516.
KEGGihsa:23516.
UCSCiuc003xbp.5. human. [Q15043-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D31887 mRNA. Translation: BAA06685.1. Different initiation.
AK172810 mRNA. Translation: BAD18780.1.
AK295807 mRNA. Translation: BAG58625.1.
AC087854 Genomic DNA. No translation available.
AC105910 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63681.1.
CH471080 Genomic DNA. Translation: EAW63682.1.
CH471080 Genomic DNA. Translation: EAW63683.1.
BC015770 mRNA. Translation: AAH15770.1.
CCDSiCCDS47822.1. [Q15043-2]
CCDS47823.1. [Q15043-1]
CCDS6030.1. [Q15043-3]
RefSeqiNP_001121903.1. NM_001128431.2. [Q15043-1]
NP_001128625.1. NM_001135153.1. [Q15043-1]
NP_001128626.1. NM_001135154.1. [Q15043-2]
NP_056174.2. NM_015359.4. [Q15043-3]
XP_005273522.1. XM_005273465.2. [Q15043-1]
XP_005273523.1. XM_005273466.4. [Q15043-1]
XP_006716387.1. XM_006716324.2. [Q15043-1]
XP_011542780.1. XM_011544478.2. [Q15043-1]
XP_016868783.1. XM_017013294.1. [Q15043-1]
XP_016868784.1. XM_017013295.1. [Q15043-1]
UniGeneiHs.491232.

3D structure databases

ProteinModelPortaliQ15043.
SMRiQ15043.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117063. 5 interactors.
IntActiQ15043. 6 interactors.
MINTiMINT-5004639.
STRINGi9606.ENSP00000289952.

Protein family/group databases

TCDBi2.A.5.4.5. the zinc (zn(2+))-iron (fe(2+)) permease (zip) family.

PTM databases

iPTMnetiQ15043.
PhosphoSitePlusiQ15043.

Polymorphism and mutation databases

BioMutaiSLC39A14.
DMDMi313104191.

Proteomic databases

EPDiQ15043.
MaxQBiQ15043.
PaxDbiQ15043.
PeptideAtlasiQ15043.
PRIDEiQ15043.

Protocols and materials databases

DNASUi23516.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000240095; ENSP00000240095; ENSG00000104635. [Q15043-2]
ENST00000289952; ENSP00000289952; ENSG00000104635. [Q15043-1]
ENST00000359741; ENSP00000352779; ENSG00000104635. [Q15043-3]
ENST00000381237; ENSP00000370635; ENSG00000104635. [Q15043-1]
GeneIDi23516.
KEGGihsa:23516.
UCSCiuc003xbp.5. human. [Q15043-1]

Organism-specific databases

CTDi23516.
DisGeNETi23516.
GeneCardsiSLC39A14.
HGNCiHGNC:20858. SLC39A14.
HPAiHPA016508.
MIMi608736. gene.
617013. phenotype.
neXtProtiNX_Q15043.
OpenTargetsiENSG00000104635.
PharmGKBiPA134863701.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2693. Eukaryota.
COG0428. LUCA.
GeneTreeiENSGT00760000119115.
HOGENOMiHOG000070225.
HOVERGENiHBG108450.
InParanoidiQ15043.
KOiK14720.
OMAiCCCYLGM.
OrthoDBiEOG091G064Y.
PhylomeDBiQ15043.
TreeFamiTF318470.

Enzyme and pathway databases

ReactomeiR-HSA-442380. Zinc influx into cells by the SLC39 gene family.

Miscellaneous databases

ChiTaRSiSLC39A14. human.
GenomeRNAii23516.
PROiPR:Q15043.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104635.
CleanExiHS_SLC39A14.
ExpressionAtlasiQ15043. baseline and differential.
GenevisibleiQ15043. HS.

Family and domain databases

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

Entry informationi

Entry nameiS39AE_HUMAN
AccessioniPrimary (citable) accession number: Q15043
Secondary accession number(s): A6NH98
, B4DIW3, B6EU88, D3DSR4, Q6ZME8, Q96BB3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 30, 2010
Last modified: May 10, 2017
This is version 129 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. Human chromosome 8
    Human chromosome 8: 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

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 one 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.