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UniProtKB - Q15043 (S39AE_HUMAN)

Entry version 146 (16 Oct 2019)
Sequence version 3 (30 Nov 2010)
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Protein

Zinc transporter ZIP14

Gene

SLC39A14

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Broad-scope metal ion transporter with a preference for zinc uptake (PubMed:29621230). Also mediates cellular uptake of nontransferrin-bound iron.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processIon transport, Transport, Zinc transport
LigandZinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-442380 Zinc influx into cells by the SLC39 gene family

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SLC39A14
Synonyms:KIAA0062, ZIP14
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 8

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20858 SLC39A14

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		608736 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q15043

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini31 – 157ExtracellularSequence analysisAdd BLAST127
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>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

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs879253763EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs879253766EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs750281602EnsemblClinVar.1
Hyperostosis cranialis interna (HCIN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Conditional knockin mice overexpressing Arg-438 variant, which is the mouse equivalent of human variant Leu-441, in osteoblasts have a severe skeletal phenotype marked by a drastic increase in cortical thickness due to an enhanced endosteal bone formation, resembling the underlying pathology in HCI patients.1 Publication
Disease descriptionAn autosomal dominant bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade of life.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080794441L → R in HCIN; loss of localization at the plasma membrane; loss of Zn uptake activity. 1 PublicationCorresponds to variant dbSNP:rs1554520924EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dystonia, Neurodegeneration, Parkinsonism

Organism-specific databases

DisGeNET

More...DisGeNETi		23516

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		SLC39A14

MalaCards human disease database

More...MalaCardsi		SLC39A14
MIMi144755 phenotype
617013 phenotype

Open Targets

More...OpenTargetsi		ENSG00000104635

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		521406 Dystonia-parkinsonism-hypermanganesemia syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134863701

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q15043

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC39A14

Domain mapping of disease mutations (DMDM)

More...DMDMi		313104191

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 30Sequence analysisAdd BLAST30
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000031219431 – 492Zinc transporter ZIP14Add BLAST462

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi77N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi102N-linked (GlcNAc...) asparagine1 Publication1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q15043

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q15043

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q15043

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q15043

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q15043

PeptideAtlas

More...PeptideAtlasi		Q15043

PRoteomics IDEntifications database

More...PRIDEi		Q15043

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		60392 [Q15043-1]
60393 [Q15043-2]
60394 [Q15043-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q15043

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q15043

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q15043

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>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). Expressed in osteoblasts and giant osteoclast-like cells, but not in osteocytes found osteoblastoma and giant cell tumors (at protein level) (PubMed:29621230).4 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000104635 Expressed in 227 organ(s), highest expression level in right lobe of liver

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q15043 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q15043 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA016508

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homotrimer.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		117063, 12 interactors

Protein interaction database and analysis system

More...IntActi		Q15043, 18 interactors

Molecular INTeraction database

More...MINTi		Q15043

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000352779

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q15043

Database of comparative protein structure models

More...ModBasei		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi251 – 258HHHGHXHX-motif8
Motifi376 – 381XEXPHE-motif6

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

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

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2693 Eukaryota
COG0428 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157986

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000070225

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q15043

KEGG Orthology (KO)

More...KOi		K14720

Identification of Orthologs from Complete Genome Data

More...OMAi		VAWMIVF

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q15043

TreeFam database of animal gene trees

More...TreeFami		TF318470

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003689 ZIP

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02535 Zip, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q15043-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RFT1E5RFT1_HUMAN
Zinc transporter ZIP14
SLC39A14
201Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RIP4E5RIP4_HUMAN
Zinc transporter ZIP14
SLC39A14
155Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RFZ8E5RFZ8_HUMAN
Zinc transporter ZIP14
SLC39A14
89Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RGA7E5RGA7_HUMAN
Zinc transporter ZIP14
SLC39A14
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJG5E5RJG5_HUMAN
Zinc transporter ZIP14
SLC39A14
127Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RJ40E5RJ40_HUMAN
Zinc transporter ZIP14
SLC39A14
122Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E5RFF5E5RFF5_HUMAN
Zinc transporter ZIP14
SLC39A14
53Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA06685 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs879253763EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs879253766EnsemblClinVar.1
Natural variantiVAR_080794441L → R in HCIN; loss of localization at the plasma membrane; loss of Zn uptake activity. 1 PublicationCorresponds to variant dbSNP:rs1554520924EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs750281602EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47822.1 [Q15043-2]
CCDS47823.1 [Q15043-1]
CCDS6030.1 [Q15043-3]

NCBI Reference Sequences

More...RefSeqi		NP_001121903.1, NM_001128431.2 [Q15043-1]
NP_001128625.1, NM_001135153.1 [Q15043-1]
NP_056174.2, NM_015359.4 [Q15043-3]
XP_005273522.1, XM_005273465.2
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
XP_016868784.1, XM_017013295.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000240095; ENSP00000240095; ENSG00000104635 [Q15043-2]
ENST00000289952; ENSP00000289952; ENSG00000104635 [Q15043-1]
ENST00000359741; ENSP00000352779; ENSG00000104635 [Q15043-3]
ENST00000381237; ENSP00000370635; ENSG00000104635 [Q15043-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23516

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23516

UCSC genome browser

More...UCSCi		uc003xbp.5 human [Q15043-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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_056174.2, NM_015359.4 [Q15043-3]
XP_005273522.1, XM_005273465.2
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
XP_016868784.1, XM_017013295.1

3D structure databases

SMRiQ15043
ModBaseiSearch...

Protein-protein interaction databases

BioGridi117063, 12 interactors
IntActiQ15043, 18 interactors
MINTiQ15043
STRINGi9606.ENSP00000352779

Protein family/group databases

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

PTM databases

iPTMnetiQ15043
PhosphoSitePlusiQ15043
SwissPalmiQ15043

Polymorphism and mutation databases

BioMutaiSLC39A14
DMDMi313104191

Proteomic databases

EPDiQ15043
jPOSTiQ15043
MassIVEiQ15043
MaxQBiQ15043
PaxDbiQ15043
PeptideAtlasiQ15043
PRIDEiQ15043
ProteomicsDBi60392 [Q15043-1]
60393 [Q15043-2]
60394 [Q15043-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		23516

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

Comparative Toxicogenomics Database

More...CTDi		23516
DisGeNETi23516

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC39A14
GeneReviewsiSLC39A14
HGNCiHGNC:20858 SLC39A14
HPAiHPA016508
MalaCardsiSLC39A14
MIMi144755 phenotype
608736 gene
617013 phenotype
neXtProtiNX_Q15043
OpenTargetsiENSG00000104635
Orphaneti521406 Dystonia-parkinsonism-hypermanganesemia syndrome
PharmGKBiPA134863701

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2693 Eukaryota
COG0428 LUCA
GeneTreeiENSGT00940000157986
HOGENOMiHOG000070225
InParanoidiQ15043
KOiK14720
OMAiVAWMIVF
PhylomeDBiQ15043
TreeFamiTF318470

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SLC39A14 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		23516
PharosiQ15043

Protein Ontology

More...PROi		PR:Q15043

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000104635 Expressed in 227 organ(s), highest expression level in right lobe of liver
ExpressionAtlasiQ15043 baseline and differential
GenevisibleiQ15043 HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiS39AE_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q15043
Secondary accession number(s): A6NH98
, B4DIW3, B6EU88, D3DSR4, Q6ZME8, Q96BB3
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 30, 2010
Last modified: October 16, 2019
This is version 146 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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