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Entry version 169 (16 Oct 2019)
Sequence version 1 (01 Mar 2001)
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Protein

Mitochondrial thiamine pyrophosphate carrier

Gene

SLC25A19

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

Mitochondrial transporter mediating uptake of thiamine pyrophosphate (ThPP) into mitochondria.1 Publication

Miscellaneous

The transmembrane helices are not perpendicular to the plane of the membrane, but cross the membrane at an angle. Odd-numbered transmembrane helices exhibit a sharp kink, due to the presence of a conserved proline residue (By similarity).By similarity

<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

GO - Biological processi

<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 processTransport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-196819 Vitamin B1 (thiamin) metabolism

Protein family/group databases

Transport Classification Database

More...
TCDBi
2.A.29.16.1 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_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:
Mitochondrial thiamine pyrophosphate carrier
Alternative name(s):
Mitochondrial uncoupling protein 1
Solute carrier family 25 member 19
<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:SLC25A19
Synonyms:DNC, MUP1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14409 SLC25A19

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
606521 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9HC21

<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 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>Transmembranei19 – 39Helical; Name=1Sequence analysisAdd BLAST21
Transmembranei87 – 107Helical; Name=2Sequence analysisAdd BLAST21
Transmembranei122 – 142Helical; Name=3Sequence analysisAdd BLAST21
Transmembranei173 – 193Helical; Name=4Sequence analysisAdd BLAST21
Transmembranei220 – 240Helical; Name=5Sequence analysisAdd BLAST21
Transmembranei293 – 313Helical; 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

<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

Microcephaly, Amish type (MCPHA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by severe congenital microcephaly and severe 2-ketoglutaric aciduria leading to death within the first year.
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_014103177G → A in MCPHA. 1 PublicationCorresponds to variant dbSNP:rs119473030EnsemblClinVar.1
Thiamine metabolism dysfunction syndrome 4, bilateral striatal degeneration and progressive polyneuropathy type (THMD4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065125125G → S in THMD4; affects function as shown by complementation studies in yeast. 1 PublicationCorresponds to variant dbSNP:rs387906944EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Neuropathy

Organism-specific databases

DisGeNET

More...
DisGeNETi
60386

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

More...
GeneReviewsi
SLC25A19

MalaCards human disease database

More...
MalaCardsi
SLC25A19
MIMi607196 phenotype
613710 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000125454

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

More...
Orphaneti
99742 Amish lethal microcephaly
217396 Progressive polyneuropathy with bilateral striatal necrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37879

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9HC21

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SLC25A19

Domain mapping of disease mutations (DMDM)

More...
DMDMi
20137652

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000906111 – 320Mitochondrial thiamine pyrophosphate carrierAdd BLAST320

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei51PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9HC21

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9HC21

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9HC21

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9HC21

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

More...
PaxDbi
Q9HC21

PeptideAtlas

More...
PeptideAtlasi
Q9HC21

PRoteomics IDEntifications database

More...
PRIDEi
Q9HC21

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
20044
81625 [Q9HC21-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9HC21

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

More...
PhosphoSitePlusi
Q9HC21

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9HC21

<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 all tissues examined except for placenta. Highest levels in colon, kidney, lung, testis, spleen, and brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000125454 Expressed in 176 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HC21 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9HC21 HS

<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
121903, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q9HC21, 18 interactors

Molecular INTeraction database

More...
MINTi
Q9HC21

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000385312

<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
Q9HC21

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>Repeati13 – 106Solcar 1Add BLAST94
Repeati116 – 202Solcar 2Add BLAST87
Repeati214 – 309Solcar 3Add BLAST96

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>Motifi241 – 246Substrate recognitionBy similarity6

<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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0752 Eukaryota
ENOG410ZRF1 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00550000074902

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000165726

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HC21

KEGG Orthology (KO)

More...
KOi
K15108

Identification of Orthologs from Complete Genome Data

More...
OMAi
QFWSYEQ

Database of Orthologous Groups

More...
OrthoDBi
1454699at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9HC21

TreeFam database of animal gene trees

More...
TreeFami
TF313047

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.50.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002067 Mit_carrier
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf

Pfam protein domain database

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

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00926 MITOCARRIER

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_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 (2+)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.

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 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HC21-1) [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
MVGYDPKPDG RNNTKFQVAV AGSVSGLVTR ALISPFDVIK IRFQLQHERL
60 70 80 90 100
SRSDPSAKYH GILQASRQIL QEEGPTAFWK GHVPAQILSI GYGAVQFLSF
110 120 130 140 150
EMLTELVHRG SVYDAREFSV HFVCGGLAAC MATLTVHPVD VLRTRFAAQG
160 170 180 190 200
EPKVYNTLRH AVGTMYRSEG PQVFYKGLAP TLIAIFPYAG LQFSCYSSLK
210 220 230 240 250
HLYKWAIPAE GKKNENLQNL LCGSGAGVIS KTLTYPLDLF KKRLQVGGFE
260 270 280 290 300
HARAAFGQVR RYKGLMDCAK QVLQKEGALG FFKGLSPSLL KAALSTGFMF
310 320
FSYEFFCNVF HCMNRTASQR
Length:320
Mass (Da):35,511
Last modified:March 1, 2001 - v1
<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:i57CE0F01D538B1BE
GO
Isoform 2 (identifier: Q9HC21-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     97-153: Missing.

Show »
Length:263
Mass (Da):29,217
Checksum:iC8AB0D60A989456C
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KSB1J3KSB1_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
67Annotation 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>
J3KRY6J3KRY6_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
182Annotation 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>
J3KS44J3KS44_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
151Annotation 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>
J3KSI7J3KSI7_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
85Annotation 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>
J3QLV3J3QLV3_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
153Annotation 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>
J3KTL0J3KTL0_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
84Annotation 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>
J3QL84J3QL84_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
105Annotation 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>
J3QS02J3QS02_HUMAN
Mitochondrial thiamine pyrophosphat...
SLC25A19
39Annotation 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>

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 conflicti186F → L in AAQ54327 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_065125125G → S in THMD4; affects function as shown by complementation studies in yeast. 1 PublicationCorresponds to variant dbSNP:rs387906944EnsemblClinVar.1
Natural variantiVAR_014103177G → A in MCPHA. 1 PublicationCorresponds to variant dbSNP:rs119473030EnsemblClinVar.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_05390897 – 153Missing in isoform 2. 1 PublicationAdd BLAST57

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ251857 mRNA Translation: CAC27560.1
AJ301616 Genomic DNA Translation: CAC37793.1
AF182404 mRNA Translation: AAG16903.1
AY346372 mRNA Translation: AAQ54327.1
AC022211 Genomic DNA No translation available.
BC001075 mRNA Translation: AAH01075.1
BC005120 mRNA Translation: AAH05120.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS11720.1 [Q9HC21-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001119593.1, NM_001126121.1 [Q9HC21-1]
NP_001119594.1, NM_001126122.1 [Q9HC21-1]
NP_068380.3, NM_021734.4 [Q9HC21-1]
XP_005257616.1, XM_005257559.3 [Q9HC21-1]
XP_005257617.1, XM_005257560.2 [Q9HC21-1]
XP_005257618.1, XM_005257561.3 [Q9HC21-1]
XP_005257619.1, XM_005257562.2 [Q9HC21-1]
XP_006722070.1, XM_006722007.2 [Q9HC21-1]
XP_016880415.1, XM_017024926.1 [Q9HC21-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000320362; ENSP00000319574; ENSG00000125454 [Q9HC21-1]
ENST00000375261; ENSP00000364410; ENSG00000125454 [Q9HC21-2]
ENST00000402418; ENSP00000385312; ENSG00000125454 [Q9HC21-1]
ENST00000416858; ENSP00000397818; ENSG00000125454 [Q9HC21-1]
ENST00000442286; ENSP00000402202; ENSG00000125454 [Q9HC21-1]
ENST00000580994; ENSP00000463795; ENSG00000125454 [Q9HC21-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
60386

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:60386

UCSC genome browser

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UCSCi
uc002jns.5 human [Q9HC21-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AJ251857 mRNA Translation: CAC27560.1
AJ301616 Genomic DNA Translation: CAC37793.1
AF182404 mRNA Translation: AAG16903.1
AY346372 mRNA Translation: AAQ54327.1
AC022211 Genomic DNA No translation available.
BC001075 mRNA Translation: AAH01075.1
BC005120 mRNA Translation: AAH05120.1
CCDSiCCDS11720.1 [Q9HC21-1]
RefSeqiNP_001119593.1, NM_001126121.1 [Q9HC21-1]
NP_001119594.1, NM_001126122.1 [Q9HC21-1]
NP_068380.3, NM_021734.4 [Q9HC21-1]
XP_005257616.1, XM_005257559.3 [Q9HC21-1]
XP_005257617.1, XM_005257560.2 [Q9HC21-1]
XP_005257618.1, XM_005257561.3 [Q9HC21-1]
XP_005257619.1, XM_005257562.2 [Q9HC21-1]
XP_006722070.1, XM_006722007.2 [Q9HC21-1]
XP_016880415.1, XM_017024926.1 [Q9HC21-1]

3D structure databases

SMRiQ9HC21
ModBaseiSearch...

Protein-protein interaction databases

BioGridi121903, 18 interactors
IntActiQ9HC21, 18 interactors
MINTiQ9HC21
STRINGi9606.ENSP00000385312

Protein family/group databases

TCDBi2.A.29.16.1 the mitochondrial carrier (mc) family

PTM databases

iPTMnetiQ9HC21
PhosphoSitePlusiQ9HC21
SwissPalmiQ9HC21

Polymorphism and mutation databases

BioMutaiSLC25A19
DMDMi20137652

Proteomic databases

EPDiQ9HC21
jPOSTiQ9HC21
MassIVEiQ9HC21
MaxQBiQ9HC21
PaxDbiQ9HC21
PeptideAtlasiQ9HC21
PRIDEiQ9HC21
ProteomicsDBi20044
81625 [Q9HC21-1]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
60386

Genome annotation databases

EnsembliENST00000320362; ENSP00000319574; ENSG00000125454 [Q9HC21-1]
ENST00000375261; ENSP00000364410; ENSG00000125454 [Q9HC21-2]
ENST00000402418; ENSP00000385312; ENSG00000125454 [Q9HC21-1]
ENST00000416858; ENSP00000397818; ENSG00000125454 [Q9HC21-1]
ENST00000442286; ENSP00000402202; ENSG00000125454 [Q9HC21-1]
ENST00000580994; ENSP00000463795; ENSG00000125454 [Q9HC21-1]
GeneIDi60386
KEGGihsa:60386
UCSCiuc002jns.5 human [Q9HC21-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
60386
DisGeNETi60386

GeneCards: human genes, protein and diseases

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GeneCardsi
SLC25A19
GeneReviewsiSLC25A19
HGNCiHGNC:14409 SLC25A19
MalaCardsiSLC25A19
MIMi606521 gene
607196 phenotype
613710 phenotype
neXtProtiNX_Q9HC21
OpenTargetsiENSG00000125454
Orphaneti99742 Amish lethal microcephaly
217396 Progressive polyneuropathy with bilateral striatal necrosis
PharmGKBiPA37879

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0752 Eukaryota
ENOG410ZRF1 LUCA
GeneTreeiENSGT00550000074902
HOGENOMiHOG000165726
InParanoidiQ9HC21
KOiK15108
OMAiQFWSYEQ
OrthoDBi1454699at2759
PhylomeDBiQ9HC21
TreeFamiTF313047

Enzyme and pathway databases

ReactomeiR-HSA-196819 Vitamin B1 (thiamin) metabolism

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
SLC25A19

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

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GenomeRNAii
60386
PharosiQ9HC21

Protein Ontology

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PROi
PR:Q9HC21

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000125454 Expressed in 176 organ(s), highest expression level in testis
ExpressionAtlasiQ9HC21 baseline and differential
GenevisibleiQ9HC21 HS

Family and domain databases

Gene3Di1.50.40.10, 1 hit
InterProiView protein in InterPro
IPR002067 Mit_carrier
IPR018108 Mitochondrial_sb/sol_carrier
IPR023395 Mt_carrier_dom_sf
PfamiView protein in Pfam
PF00153 Mito_carr, 3 hits
PRINTSiPR00926 MITOCARRIER
SUPFAMiSSF103506 SSF103506, 1 hit
PROSITEiView protein in PROSITE
PS50920 SOLCAR, 3 hits

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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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 nameiTPC_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: Q9HC21
Secondary accession number(s): E9PF74, Q6V9R7
<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: February 11, 2002
Last sequence update: March 1, 2001
Last modified: October 16, 2019
This is version 169 of the entry and version 1 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 17
    Human chromosome 17: 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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