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UniProtKB - Q0D2K0 (NIPA4_HUMAN)

Entry version 115 (12 Aug 2020)
Sequence version 3 (20 Jan 2009)
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Protein

Magnesium transporter NIPA4

Gene

NIPAL4

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

Acts as a Mg2+ transporter. Can also transport other divalent cations such as Ba2+, Mn2+, Sr2+ and Co2+ but to a much less extent than Mg2+ (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway.By similarity1 Publication

<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

Molecular functionReceptor
Biological processIon transport, Transport
LigandMagnesium

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q0D2K0

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5223345, Miscellaneous transport and binding events

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.7.25.4, the drug/metabolite transporter (dmt) superfamily

<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%5Fand%5Ftaxonomy%5Fsection">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:
Magnesium transporter NIPA4
Alternative name(s):
Ichthyin
NIPA-like protein 4
Non-imprinted in Prader-Willi/Angelman syndrome region protein 4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:NIPAL4
Synonyms:ICHN, NIPA4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 5

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000172548.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:28018, NIPAL4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		609383, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q0D2K0

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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 domaini1 – 117ExtracellularSequence analysisAdd BLAST117
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'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>Transmembranei118 – 138HelicalSequence analysisAdd BLAST21
Topological domaini139 – 164CytoplasmicSequence analysisAdd BLAST26
Transmembranei165 – 185HelicalSequence analysisAdd BLAST21
Topological domaini186ExtracellularSequence analysis1
Transmembranei187 – 207HelicalSequence analysisAdd BLAST21
Topological domaini208 – 215CytoplasmicSequence analysis8
Transmembranei216 – 236HelicalSequence analysisAdd BLAST21
Topological domaini237 – 257ExtracellularSequence analysisAdd BLAST21
Transmembranei258 – 278HelicalSequence analysisAdd BLAST21
Topological domaini279 – 285CytoplasmicSequence analysis7
Transmembranei286 – 306HelicalSequence analysisAdd BLAST21
Topological domaini307 – 323ExtracellularSequence analysisAdd BLAST17
Transmembranei324 – 344HelicalSequence analysisAdd BLAST21
Topological domaini345 – 355CytoplasmicSequence analysisAdd BLAST11
Transmembranei356 – 376HelicalSequence analysisAdd BLAST21
Topological domaini377 – 386ExtracellularSequence analysis10
Transmembranei387 – 407HelicalSequence analysisAdd BLAST21
Topological domaini408 – 466CytoplasmicSequence analysisAdd BLAST59

Keywords - Cellular componenti

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

Ichthyosis, congenital, autosomal recessive 6 (ARCI6)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
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_075461135S → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs376803325Ensembl.1
Natural variantiVAR_031736142G → V in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs775903553Ensembl.1
Natural variantiVAR_031737176A → D in ARCI6; frequent mutation. 2 PublicationsCorresponds to variant dbSNP:rs199422217EnsemblClinVar.1
Natural variantiVAR_031738208S → F in ARCI6. 1 Publication1
Natural variantiVAR_054120230G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs370356566EnsemblClinVar.1
Natural variantiVAR_031739237H → N in ARCI6. 1 Publication1
Natural variantiVAR_031740297G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs375688767Ensembl.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNET

More...DisGeNETi		348938

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

More...GeneReviewsi		NIPAL4

MalaCards human disease database

More...MalaCardsi		NIPAL4
MIMi612281, phenotype

Open Targets

More...OpenTargetsi		ENSG00000172548

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

More...Orphaneti		79394, Congenital non-bullous ichthyosiform erythroderma
313, Lamellar ichthyosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164723956

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q0D2K0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		NIPAL4

Domain mapping of disease mutations (DMDM)

More...DMDMi		221222524

<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 describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002844471 – 466Magnesium transporter NIPA4Add BLAST466

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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>Glycosylationi69N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi74N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi102N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q0D2K0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q0D2K0

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

More...PaxDbi		Q0D2K0

PeptideAtlas

More...PeptideAtlasi		Q0D2K0

PRoteomics IDEntifications database

More...PRIDEi		Q0D2K0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58743 [Q0D2K0-1]
58744 [Q0D2K0-2]

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q0D2K0, 3 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q0D2K0

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

More...PhosphoSitePlusi		Q0D2K0

<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

Highly expressed in brain, lung, stomach, keratinocytes and leukocytes, and in all other tissues tested except liver, thyroid and fetal brain.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000172548, Expressed in skin of abdomen and 141 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q0D2K0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q0D2K0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000172548, Tissue enhanced (brain, skin)

<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%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

<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

<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 NIPA family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2922, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000159087

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_012349_1_2_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q0D2K0

KEGG Orthology (KO)

More...KOi		K22733

Identification of Orthologs from Complete Genome Data

More...OMAi		QVLCQIV

Database of Orthologous Groups

More...OrthoDBi		754939at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q0D2K0

TreeFam database of animal gene trees

More...TreeFami		TF313214

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR008521, Mg_trans_NIPA

The PANTHER Classification System

More...PANTHERi		PTHR12570, PTHR12570, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF05653, Mg_trans_NIPA, 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%5Flength">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 (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 2 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q0D2K0-1) [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
MPGDSSPGTL PLWDASLSPP LGPDPGGFSR ASHAGDKSRP PAPELGSPGA 
        60         70         80         90        100
VRPRVGSCAP GPMELRVSNT SCENGSLLHL YCSSQEVLCQ IVNDLSPEVP 
       110        120        130        140        150
SNATFHSWQE RIRQNYGFYI GLGLAFLSSF LIGSSVILKK KGLLRLVATG 
       160        170        180        190        200
ATRAVDGGFG YLKDAMWWAG FLTMAAGEVA NFGAYAFAPA TVVTPLGALS 
       210        220        230        240        250
VLISAILSSY FLRESLNLLG KLGCVICVAG STVMVIHAPE EEKVTTIMEM 
       260        270        280        290        300
ASKMKDTGFI VFAVLLLVSC LILIFVIAPR YGQRNILIYI IICSVIGAFS 
       310        320        330        340        350
VAAVKGLGIT IKNFFQGLPV VRHPLPYILS LILALSLSTQ VNFLNRALDI 
       360        370        380        390        400
FNTSLVFPIY YVFFTTVVVT SSIILFKEWY SMSAVDIAGT LSGFVTIILG 
       410        420        430        440        450
VFMLHAFKDL DISCASLPHM HKNPPPSPAP EPTVIRLEDK NVLVDNIELA 
       460 
STSSPEEKPK VFIIHS
Length:466
Mass (Da):50,058
Last modified:January 20, 2009 - 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:iC84D024A68609C9E
GO
Isoform 2 (identifier: Q0D2K0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     156-174: Missing.

Show »
Length:447
Mass (Da):47,909
Checksum:iEE032469DFA26FBD
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YC31H0YC31_HUMAN
Magnesium transporter NIPA4
NIPAL4
132Annotation 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 ABW69630 differs from that shown. Protein truncation is due to an exon 5 splice site mutation which is found in a ARCII patient.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 conflicti213R → G in BAG59515 (PubMed:14702039).Curated1
Sequence conflicti213R → G in AAI05711 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075461135S → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs376803325Ensembl.1
Natural variantiVAR_031736142G → V in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs775903553Ensembl.1
Natural variantiVAR_031737176A → D in ARCI6; frequent mutation. 2 PublicationsCorresponds to variant dbSNP:rs199422217EnsemblClinVar.1
Natural variantiVAR_031738208S → F in ARCI6. 1 Publication1
Natural variantiVAR_054120230G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs370356566EnsemblClinVar.1
Natural variantiVAR_031739237H → N in ARCI6. 1 Publication1
Natural variantiVAR_031740297G → R in ARCI6. 1 PublicationCorresponds to variant dbSNP:rs375688767Ensembl.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_036122156 – 174Missing in isoform 2. 1 PublicationAdd BLAST19

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
EF599763 Genomic DNA Translation: ABW69628.1
EF599764 Genomic DNA Translation: ABW69629.1
EF599765 Genomic DNA No translation available.
EF599766 Genomic DNA Translation: ABW69630.1 Sequence problems.
AK296972 mRNA Translation: BAG59515.1
AC008676 Genomic DNA No translation available.
BC105708 mRNA Translation: AAI05709.1
BC105709 mRNA Translation: AAI05710.1
BC105710 mRNA Translation: AAI05711.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS54944.1 [Q0D2K0-2]

NCBI Reference Sequences

More...RefSeqi		NP_001092757.1, NM_001099287.1
NP_001165763.1, NM_001172292.1 [Q0D2K0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000311946; ENSP00000311687; ENSG00000172548 [Q0D2K0-1]
ENST00000435489; ENSP00000406456; ENSG00000172548 [Q0D2K0-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		348938

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:348938

UCSC genome browser

More...UCSCi		uc003lwx.5, human [Q0D2K0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
EF599763 Genomic DNA Translation: ABW69628.1
EF599764 Genomic DNA Translation: ABW69629.1
EF599765 Genomic DNA No translation available.
EF599766 Genomic DNA Translation: ABW69630.1 Sequence problems.
AK296972 mRNA Translation: BAG59515.1
AC008676 Genomic DNA No translation available.
BC105708 mRNA Translation: AAI05709.1
BC105709 mRNA Translation: AAI05710.1
BC105710 mRNA Translation: AAI05711.1
CCDSiCCDS54944.1 [Q0D2K0-2]
RefSeqiNP_001092757.1, NM_001099287.1
NP_001165763.1, NM_001172292.1 [Q0D2K0-2]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi131541, 2 interactors
IntActiQ0D2K0, 16 interactors
STRINGi9606.ENSP00000311687

Protein family/group databases

TCDBi2.A.7.25.4, the drug/metabolite transporter (dmt) superfamily

PTM databases

GlyGeniQ0D2K0, 3 sites
iPTMnetiQ0D2K0
PhosphoSitePlusiQ0D2K0

Polymorphism and mutation databases

BioMutaiNIPAL4
DMDMi221222524

Proteomic databases

MassIVEiQ0D2K0
MaxQBiQ0D2K0
PaxDbiQ0D2K0
PeptideAtlasiQ0D2K0
PRIDEiQ0D2K0
ProteomicsDBi58743 [Q0D2K0-1]
58744 [Q0D2K0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		48488, 71 antibodies

The DNASU plasmid repository

More...DNASUi		348938

Genome annotation databases

EnsembliENST00000311946; ENSP00000311687; ENSG00000172548 [Q0D2K0-1]
ENST00000435489; ENSP00000406456; ENSG00000172548 [Q0D2K0-2]
GeneIDi348938
KEGGihsa:348938
UCSCiuc003lwx.5, human [Q0D2K0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		348938
DisGeNETi348938
EuPathDBiHostDB:ENSG00000172548.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		NIPAL4
GeneReviewsiNIPAL4
HGNCiHGNC:28018, NIPAL4
HPAiENSG00000172548, Tissue enhanced (brain, skin)
MalaCardsiNIPAL4
MIMi609383, gene
612281, phenotype
neXtProtiNX_Q0D2K0
OpenTargetsiENSG00000172548
Orphaneti79394, Congenital non-bullous ichthyosiform erythroderma
313, Lamellar ichthyosis
PharmGKBiPA164723956

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2922, Eukaryota
GeneTreeiENSGT00940000159087
HOGENOMiCLU_012349_1_2_1
InParanoidiQ0D2K0
KOiK22733
OMAiQVLCQIV
OrthoDBi754939at2759
PhylomeDBiQ0D2K0
TreeFamiTF313214

Enzyme and pathway databases

PathwayCommonsiQ0D2K0
ReactomeiR-HSA-5223345, Miscellaneous transport and binding events

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		348938, 0 hits in 866 CRISPR screens

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

More...GenomeRNAii		348938
PharosiQ0D2K0, Tbio

Protein Ontology

More...PROi		PR:Q0D2K0
RNActiQ0D2K0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000172548, Expressed in skin of abdomen and 141 other tissues
ExpressionAtlasiQ0D2K0, baseline and differential
GenevisibleiQ0D2K0, HS

Family and domain databases

InterProiView protein in InterPro
IPR008521, Mg_trans_NIPA
PANTHERiPTHR12570, PTHR12570, 1 hit
PfamiView protein in Pfam
PF05653, Mg_trans_NIPA, 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 nameiNIPA4_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: Q0D2K0
Secondary accession number(s): A8S6F1
, A8S6F5, A8S6F8, B4DLF3, Q0D2J8, Q0D2J9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: January 20, 2009
Last modified: August 12, 2020
This is version 115 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

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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