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UniProtKB - Q9BZJ4 (S2539_HUMAN)

Entry version 182 (25 May 2022)
Sequence version 2 (11 Jan 2011)
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Protein

Probable mitochondrial glutathione transporter SLC25A39

Gene

SLC25A39

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

Annotation score:4 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

Mitochondrial transporter required for glutahione import into mitochondria (PubMed:34707288).

Glutahione, which plays key roles in oxidative metabolism, is produced exclusively in the cytosol and is imported in many organelles (PubMed:34707288).

Mitochondrial glutahione is required for the activity and stability of proteins containing iron-sulfur clusters, as well as erythropoiesis (PubMed:34707288).

1 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 - 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 processHeme biosynthesis, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9BZJ4

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9BZJ4

Protein family/group databases

Transport Classification Database

More...TCDBi		2.A.29.14.8, the mitochondrial carrier (mc) 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%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:
Probable mitochondrial glutathione transporter SLC25A39Curated
Alternative name(s):
Solute carrier family 25 member 39Curated
<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:SLC25A391 PublicationImported
ORF Names:CGI-691 Publication, PRO21631 Publication
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24279, SLC25A39

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610820, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9BZJ4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000013306

<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 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>Transmembranei15 – 35Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei122 – 142Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei161 – 181Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei215 – 235Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei259 – 279Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei318 – 338Helical; Name=6Sequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi226D → A: Abolished glutahione import into mitochondria without affecting the levels of NAD. 1 Publication1
Mutagenesisi329K → A: Abolished glutahione import into mitochondria without affecting the levels of NAD. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		51629

Open Targets

More...OpenTargetsi		ENSG00000013306

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162403626

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9BZJ4, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SLC25A39

Domain mapping of disease mutations (DMDM)

More...DMDMi		317373277

<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_00000905961 – 359Probable mitochondrial glutathione transporter SLC25A39Add BLAST359

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9BZJ4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9BZJ4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9BZJ4

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

More...PaxDbi		Q9BZJ4

PeptideAtlas

More...PeptideAtlasi		Q9BZJ4

PRoteomics IDEntifications database

More...PRIDEi		Q9BZJ4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		79858 [Q9BZJ4-1]
79859 [Q9BZJ4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9BZJ4

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

More...PhosphoSitePlusi		Q9BZJ4

<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 many tissues (PubMed:11139402). Abundant in testis and kidney (PubMed:11139402).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000013306, Expressed in blood and 205 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9BZJ4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9BZJ4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000013306, Low tissue specificity

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		119645, 8 interactors

Protein interaction database and analysis system

More...IntActi		Q9BZJ4, 3 interactors

Molecular INTeraction database

More...MINTi		Q9BZJ4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000366299

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9BZJ4, protein

<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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9BZJ4

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

More...SMRi		Q9BZJ4

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati9 – 151Solcar 1Add BLAST143
Repeati159 – 243Solcar 2Add BLAST85
Repeati253 – 347Solcar 3Add BLAST95

<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 mitochondrial carrier (TC 2.A.29) family. [View classification]Curated

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0761, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000156382

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_015166_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9BZJ4

Identification of Orthologs from Complete Genome Data

More...OMAi		DQTSVGA

Database of Orthologous Groups

More...OrthoDBi		1007936at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9BZJ4

TreeFam database of animal gene trees

More...TreeFami		TF314720

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.50.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf
IPR045315, Mtm1-like

The PANTHER Classification System

More...PANTHERi		PTHR45760, PTHR45760, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00153, Mito_carr, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF103506, SSF103506, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50920, SOLCAR, 3 hits

<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.<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 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BZJ4-1) [UniParc]FASTAAdd to basket
Also known as: CGI-69L1 Publication

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><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
MADQDPAGIS PLQQMVASGT GAVVTSLFMT PLDVVKVRLQ SQRPSMASEL 
        60         70         80         90        100
MPSSRLWSLS YTKLPSSLQS TGKCLLYCNG VLEPLYLCPN GARCATWFQD 
       110        120        130        140        150
PTRFTGTMDA FVKIVRHEGT RTLWSGLPAT LVMTVPATAI YFTAYDQLKA 
       160        170        180        190        200
FLCGRALTSD LYAPMVAGAL ARLGTVTVIS PLELMRTKLQ AQHVSYRELG 
       210        220        230        240        250
ACVRTAVAQG GWRSLWLGWG PTALRDVPFS ALYWFNYELV KSWLNGFRPK 
       260        270        280        290        300
DQTSVGMSFV AGGISGTVAA VLTLPFDVVK TQRQVALGAM EAVRVNPLHV 
       310        320        330        340        350
DSTWLLLRRI RAESGTKGLF AGFLPRIIKA APSCAIMIST YEFGKSFFQR 

LNQDRLLGG
Length:359
Mass (Da):39,249
Last modified:January 11, 2011 - v2
<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:iC29C750032E94D0A
GO
Isoform 2 (identifier: Q9BZJ4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-72: LPSSLQSTG → W

Show »
Length:351
Mass (Da):38,564
Checksum:i5939DFB2C73B71CA
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4DFG5B4DFG5_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
336Annotation 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>
K7EMR4K7EMR4_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
266Annotation 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>
K7ELM7K7ELM7_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
72Annotation 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>
K7EKC2K7EKC2_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
143Annotation 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>
K7EMW3K7EMW3_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
227Annotation 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>
K7EJI2K7EJI2_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
164Annotation 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>
K7EQS4K7EQS4_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
93Annotation 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>
K7EKF4K7EKF4_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
99Annotation 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>
K7EQS8K7EQS8_HUMAN
Probable mitochondrial glutathione ...
SLC25A39
61Annotation 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 AAF69618 differs from that shown. Reason: Erroneous initiation. Truncated 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 conflicti266G → R in AAF69618 (Ref. 7) Curated1

Natural variant

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_012756247F → L5 PublicationsCorresponds to variant dbSNP:rs2011951Ensembl.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_00326464 – 72LPSSLQSTG → W in isoform 2. 6 Publications9

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
AF317711 mRNA Translation: AAG60687.1
AF151827 mRNA Translation: AAD34064.1
AL133584 mRNA Translation: CAB63728.1
AK026060 mRNA Translation: BAB15341.1
AK289357 mRNA Translation: BAF82046.1
CH471178 Genomic DNA Translation: EAW51602.1
CH471178 Genomic DNA Translation: EAW51603.1
CH471178 Genomic DNA Translation: EAW51604.1
CH471178 Genomic DNA Translation: EAW51605.1
CH471178 Genomic DNA Translation: EAW51606.1
CH471178 Genomic DNA Translation: EAW51607.1
BC001398 mRNA Translation: AAH01398.1
BC009330 mRNA Translation: AAH09330.1
BC096819 mRNA Translation: AAH96819.1
AF119864 mRNA Translation: AAF69618.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11482.1 [Q9BZJ4-2]
CCDS45700.1 [Q9BZJ4-1]

Protein sequence database of the Protein Information Resource

More...PIRi		T43493

NCBI Reference Sequences

More...RefSeqi		NP_001137252.1, NM_001143780.2 [Q9BZJ4-1]
NP_057100.1, NM_016016.3 [Q9BZJ4-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000225308.12; ENSP00000225308.8; ENSG00000013306.16 [Q9BZJ4-2]
ENST00000377095.10; ENSP00000366299.4; ENSG00000013306.16
ENST00000590194.5; ENSP00000467681.1; ENSG00000013306.16 [Q9BZJ4-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		51629

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:51629

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000377095.10; ENSP00000366299.4; NM_001143780.3; NP_001137252.1

UCSC genome browser

More...UCSCi		uc002igm.3, human [Q9BZJ4-1]

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
AF317711 mRNA Translation: AAG60687.1
AF151827 mRNA Translation: AAD34064.1
AL133584 mRNA Translation: CAB63728.1
AK026060 mRNA Translation: BAB15341.1
AK289357 mRNA Translation: BAF82046.1
CH471178 Genomic DNA Translation: EAW51602.1
CH471178 Genomic DNA Translation: EAW51603.1
CH471178 Genomic DNA Translation: EAW51604.1
CH471178 Genomic DNA Translation: EAW51605.1
CH471178 Genomic DNA Translation: EAW51606.1
CH471178 Genomic DNA Translation: EAW51607.1
BC001398 mRNA Translation: AAH01398.1
BC009330 mRNA Translation: AAH09330.1
BC096819 mRNA Translation: AAH96819.1
AF119864 mRNA Translation: AAF69618.1 Different initiation.
CCDSiCCDS11482.1 [Q9BZJ4-2]
CCDS45700.1 [Q9BZJ4-1]
PIRiT43493
RefSeqiNP_001137252.1, NM_001143780.2 [Q9BZJ4-1]
NP_057100.1, NM_016016.3 [Q9BZJ4-2]

3D structure databases

AlphaFoldDBiQ9BZJ4
SMRiQ9BZJ4
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi119645, 8 interactors
IntActiQ9BZJ4, 3 interactors
MINTiQ9BZJ4
STRINGi9606.ENSP00000366299

Protein family/group databases

TCDBi2.A.29.14.8, the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9BZJ4
PhosphoSitePlusiQ9BZJ4

Genetic variation databases

BioMutaiSLC25A39
DMDMi317373277

Proteomic databases

jPOSTiQ9BZJ4
MassIVEiQ9BZJ4
MaxQBiQ9BZJ4
PaxDbiQ9BZJ4
PeptideAtlasiQ9BZJ4
PRIDEiQ9BZJ4
ProteomicsDBi79858 [Q9BZJ4-1]
79859 [Q9BZJ4-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		17434, 41 antibodies from 16 providers

The DNASU plasmid repository

More...DNASUi		51629

Genome annotation databases

EnsembliENST00000225308.12; ENSP00000225308.8; ENSG00000013306.16 [Q9BZJ4-2]
ENST00000377095.10; ENSP00000366299.4; ENSG00000013306.16
ENST00000590194.5; ENSP00000467681.1; ENSG00000013306.16 [Q9BZJ4-2]
GeneIDi51629
KEGGihsa:51629
MANE-SelectiENST00000377095.10; ENSP00000366299.4; NM_001143780.3; NP_001137252.1
UCSCiuc002igm.3, human [Q9BZJ4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		51629
DisGeNETi51629

GeneCards: human genes, protein and diseases

More...GeneCardsi		SLC25A39
HGNCiHGNC:24279, SLC25A39
HPAiENSG00000013306, Low tissue specificity
MIMi610820, gene
neXtProtiNX_Q9BZJ4
OpenTargetsiENSG00000013306
PharmGKBiPA162403626
VEuPathDBiHostDB:ENSG00000013306

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0761, Eukaryota
GeneTreeiENSGT00940000156382
HOGENOMiCLU_015166_0_0_1
InParanoidiQ9BZJ4
OMAiDQTSVGA
OrthoDBi1007936at2759
PhylomeDBiQ9BZJ4
TreeFamiTF314720

Enzyme and pathway databases

PathwayCommonsiQ9BZJ4
SignaLinkiQ9BZJ4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		51629, 18 hits in 1081 CRISPR screens

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

More...ChiTaRSi		SLC25A39, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SLC25A39

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

More...GenomeRNAii		51629
PharosiQ9BZJ4, Tdark

Protein Ontology

More...PROi		PR:Q9BZJ4
RNActiQ9BZJ4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000013306, Expressed in blood and 205 other tissues
ExpressionAtlasiQ9BZJ4, baseline and differential
GenevisibleiQ9BZJ4, HS

Family and domain databases

Gene3Di1.50.40.10, 2 hits
InterProiView protein in InterPro
IPR018108, Mitochondrial_sb/sol_carrier
IPR023395, Mt_carrier_dom_sf
IPR045315, Mtm1-like
PANTHERiPTHR45760, PTHR45760, 1 hit
PfamiView protein in Pfam
PF00153, Mito_carr, 3 hits
SUPFAMiSSF103506, SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920, SOLCAR, 3 hits

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 nameiS2539_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: Q9BZJ4
Secondary accession number(s): A8JZZ2
, D3DX51, D3DX54, Q4V9M1, Q9P182, Q9UF66, Q9Y379
<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: February 11, 2002
Last sequence update: January 11, 2011
Last modified: May 25, 2022
This is version 182 of the entry and version 2 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 chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
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