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UniProtKB - Q13825 (AUHM_HUMAN)

Entry version 187 (10 Feb 2021)
Sequence version 1 (01 Nov 1996)
Previous versions | rss
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Protein

Methylglutaconyl-CoA hydratase, mitochondrial

Gene

AUH

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

Catalyzes the conversion of 3-methylglutaconyl-CoA to 3-hydroxy-3-methylglutaryl-CoA (PubMed:11738050, PubMed:12434311, PubMed:12655555). Also has itaconyl-CoA hydratase activity by converting itaconyl-CoA into citramalyl-CoA in the C5-dicarboxylate catabolism pathway (PubMed:29056341). The C5-dicarboxylate catabolism pathway is required to detoxify itaconate, a vitamin B12-poisoning metabolite (PubMed:29056341). Has very low enoyl-CoA hydratase activity (PubMed:7892223). Was originally identified as RNA-binding protein that binds in vitro to clustered 5'-AUUUA-3' motifs (PubMed:7892223).1 Publication4 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: L-leucine degradation

This protein is involved in step 3 of the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA.1 Publication
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Butyryl-CoA dehydrogenase (IVD), Isovaleryl-CoA dehydrogenase, mitochondrial (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase, Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD), Butyryl-CoA dehydrogenase (IVD)
  2. Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial (MCCC2), Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCC1)
  3. Methylglutaconyl-CoA hydratase, mitochondrial (AUH)
This subpathway is part of the pathway L-leucine degradation, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA, the pathway L-leucine degradation and in Amino-acid degradation.

<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 functionLyase, RNA-binding
Biological processBranched-chain amino acid catabolism

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

More...BioCyci		MetaCyc:HS07490-MONOMER

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		4.2.1.18, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q13825

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-70895, Branched-chain amino acid catabolism

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q13825

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...UniPathwayi		UPA00363;UER00862

Protein family/group databases

MoonProt database of moonlighting proteins

More...MoonProti		Q13825

<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:
Methylglutaconyl-CoA hydratase, mitochondrial (EC:4.2.1.181 Publication)
Alternative name(s):
AU-specific RNA-binding enoyl-CoA hydratase
Short name:
AU-binding protein/enoyl-CoA hydratase
Itaconyl-CoA hydratase1 Publication (EC:4.2.1.561 Publication)
<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:AUH
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:890, AUH

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600529, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q13825

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000148090.11

<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

Keywords - Cellular componenti

Mitochondrion

<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

3-methylglutaconic aciduria 1 (MGCA1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn inborn error of leucine metabolism. It leads to an autosomal recessive syndrome with variable clinical phenotype, ranging from delayed speech development to severe psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia. MGCA1 can be distinguished from other forms of MGCA by the pattern of metabolite excretion: 3-methylglutaconic acid levels are higher than those detected in other forms, whereas methylglutaric acid levels are usually only slightly elevated and there is a high level of 3-hydroxyisovaleric acid excretion (not present in other MGCA forms).
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_016911240A → V in MGCA1. 1 PublicationCorresponds to variant dbSNP:rs769894315EnsemblClinVar.1

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>Mutagenesisi105K → N: Abolishes RNA-binding; when associated with E-109 and Q-113. 1 Publication1
Mutagenesisi109K → E: Abolishes RNA-binding; when associated with N-105 and Q-113. 1 Publication1
Mutagenesisi113K → Q: Abolishes RNA-binding; when associated with N-105 and E-109. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		549

MalaCards human disease database

More...MalaCardsi		AUH
MIMi250950, phenotype

Open Targets

More...OpenTargetsi		ENSG00000148090

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

More...Orphaneti		67046, 3-methylglutaconic aciduria type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25181

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q13825, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		AUH

Domain mapping of disease mutations (DMDM)

More...DMDMi		37076898

<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 transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 67Mitochondrion1 PublicationAdd BLAST67
<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_000000741568 – 339Methylglutaconyl-CoA hydratase, mitochondrialAdd BLAST272

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 residuei100N6-acetyllysine; alternateBy similarity1
Modified residuei100N6-succinyllysine; alternateBy similarity1
Modified residuei109N6-succinyllysineBy similarity1
Modified residuei113N6-acetyllysine; alternateBy similarity1
Modified residuei113N6-succinyllysine; alternateBy similarity1
Modified residuei144N6-acetyllysine; alternateBy similarity1
Modified residuei144N6-succinyllysine; alternateBy similarity1
Modified residuei148N6-succinyllysineBy similarity1
Modified residuei160N6-succinyllysineBy similarity1
Modified residuei204N6-acetyllysine; alternateBy similarity1
Modified residuei204N6-succinyllysine; alternateBy similarity1
Modified residuei211N6-acetyllysine; alternateBy similarity1
Modified residuei211N6-succinyllysine; alternateBy similarity1
Modified residuei329N6-succinyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q13825

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q13825

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q13825

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q13825

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

More...PaxDbi		Q13825

PeptideAtlas

More...PeptideAtlasi		Q13825

PRoteomics IDEntifications database

More...PRIDEi		Q13825

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		59696 [Q13825-1]
59697 [Q13825-2]

Consortium for Top Down Proteomics

More...TopDownProteomicsi		Q13825-1 [Q13825-1]
Q13825-2 [Q13825-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q13825

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

More...PhosphoSitePlusi		Q13825

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000148090, Expressed in cortex of kidney and 235 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q13825, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000148090, 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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homohexamer.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107030, 24 interactors

Protein interaction database and analysis system

More...IntActi		Q13825, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000364883

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q13825, 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

Secondary structure

1339
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q13825

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q13825

<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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni105 – 119RNA-binding1 PublicationAdd BLAST15

<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 enoyl-CoA hydratase/isomerase family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1679, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157484

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009834_7_6_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q13825

Identification of Orthologs from Complete Genome Data

More...OMAi		AMEMIMT

Database of Orthologous Groups

More...OrthoDBi		1123666at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q13825

TreeFam database of animal gene trees

More...TreeFami		TF314276

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.12.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029045, ClpP/crotonase-like_dom_sf
IPR018376, Enoyl-CoA_hyd/isom_CS
IPR001753, Enoyl-CoA_hydra/iso
IPR014748, Enoyl-CoA_hydra_C

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00378, ECH_1, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF52096, SSF52096, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00166, ENOYL_COA_HYDRATASE, 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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 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
Isoform 1 (identifier: Q13825-1) [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
MAAAVAAAPG ALGSLHAGGA RLVAACSAWL CPGLRLPGSL AGRRAGPAIW 
        60         70         80         90        100
AQGWVPAAGG PAPKRGYSSE MKTEDELRVR HLEEENRGIV VLGINRAYGK 
       110        120        130        140        150
NSLSKNLIKM LSKAVDALKS DKKVRTIIIR SEVPGIFCAG ADLKERAKMS 
       160        170        180        190        200
SSEVGPFVSK IRAVINDIAN LPVPTIAAID GLALGGGLEL ALACDIRVAA 
       210        220        230        240        250
SSAKMGLVET KLAIIPGGGG TQRLPRAIGM SLAKELIFSA RVLDGKEAKA 
       260        270        280        290        300
VGLISHVLEQ NQEGDAAYRK ALDLAREFLP QGPVAMRVAK LAINQGMEVD 
       310        320        330 
LVTGLAIEEA CYAQTIPTKD RLEGLLAFKE KRPPRYKGE
Length:339
Mass (Da):35,609
Last modified:November 1, 1996 - 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:iE04FEB95933FB30B
GO
Isoform 2 (identifier: Q13825-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     140-168: Missing.

Show »
Length:310
Mass (Da):32,508
Checksum:i24B4C6983AFED47F
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_016911240A → V in MGCA1. 1 PublicationCorresponds to variant dbSNP:rs769894315EnsemblClinVar.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_008336140 – 168Missing in isoform 2. 1 PublicationAdd BLAST29

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
X79888 mRNA Translation: CAA56260.1
AL158071 Genomic DNA No translation available.
AL513353 Genomic DNA No translation available.
AL353645 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62794.1
CH471089 Genomic DNA Translation: EAW62795.1
BC020722 mRNA Translation: AAH20722.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6689.1 [Q13825-1]
CCDS78409.1 [Q13825-2]

Protein sequence database of the Protein Information Resource

More...PIRi		I37195

NCBI Reference Sequences

More...RefSeqi		NP_001293119.1, NM_001306190.1 [Q13825-2]
NP_001689.1, NM_001698.2 [Q13825-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000303617; ENSP00000307334; ENSG00000148090 [Q13825-2]
ENST00000375731; ENSP00000364883; ENSG00000148090 [Q13825-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		549

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:549

UCSC genome browser

More...UCSCi		uc004arf.5, human [Q13825-1]

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
X79888 mRNA Translation: CAA56260.1
AL158071 Genomic DNA No translation available.
AL513353 Genomic DNA No translation available.
AL353645 Genomic DNA No translation available.
CH471089 Genomic DNA Translation: EAW62794.1
CH471089 Genomic DNA Translation: EAW62795.1
BC020722 mRNA Translation: AAH20722.1
CCDSiCCDS6689.1 [Q13825-1]
CCDS78409.1 [Q13825-2]
PIRiI37195
RefSeqiNP_001293119.1, NM_001306190.1 [Q13825-2]
NP_001689.1, NM_001698.2 [Q13825-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1HZDX-ray2.20A/B/C/D/E/F68-339[»]
2ZQQX-ray2.20A/B/C/D/E/F68-339[»]
2ZQRX-ray2.50A/B/C/D/E/F68-339[»]
SMRiQ13825
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107030, 24 interactors
IntActiQ13825, 1 interactor
STRINGi9606.ENSP00000364883

Protein family/group databases

MoonProtiQ13825

PTM databases

iPTMnetiQ13825
PhosphoSitePlusiQ13825

Genetic variation databases

BioMutaiAUH
DMDMi37076898

Proteomic databases

EPDiQ13825
jPOSTiQ13825
MassIVEiQ13825
MaxQBiQ13825
PaxDbiQ13825
PeptideAtlasiQ13825
PRIDEiQ13825
ProteomicsDBi59696 [Q13825-1]
59697 [Q13825-2]
TopDownProteomicsiQ13825-1 [Q13825-1]
Q13825-2 [Q13825-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1316, 134 antibodies

The DNASU plasmid repository

More...DNASUi		549

Genome annotation databases

EnsembliENST00000303617; ENSP00000307334; ENSG00000148090 [Q13825-2]
ENST00000375731; ENSP00000364883; ENSG00000148090 [Q13825-1]
GeneIDi549
KEGGihsa:549
UCSCiuc004arf.5, human [Q13825-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		549
DisGeNETi549

GeneCards: human genes, protein and diseases

More...GeneCardsi		AUH
HGNCiHGNC:890, AUH
HPAiENSG00000148090, Low tissue specificity
MalaCardsiAUH
MIMi250950, phenotype
600529, gene
neXtProtiNX_Q13825
OpenTargetsiENSG00000148090
Orphaneti67046, 3-methylglutaconic aciduria type 1
PharmGKBiPA25181
VEuPathDBiHostDB:ENSG00000148090.11

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1679, Eukaryota
GeneTreeiENSGT00940000157484
HOGENOMiCLU_009834_7_6_1
InParanoidiQ13825
OMAiAMEMIMT
OrthoDBi1123666at2759
PhylomeDBiQ13825
TreeFamiTF314276

Enzyme and pathway databases

UniPathwayiUPA00363;UER00862
BioCyciMetaCyc:HS07490-MONOMER
BRENDAi4.2.1.18, 2681
PathwayCommonsiQ13825
ReactomeiR-HSA-70895, Branched-chain amino acid catabolism
SABIO-RKiQ13825

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		549, 3 hits in 876 CRISPR screens

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

More...ChiTaRSi		AUH, human
EvolutionaryTraceiQ13825

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

More...GenomeRNAii		549
PharosiQ13825, Tbio

Protein Ontology

More...PROi		PR:Q13825
RNActiQ13825, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000148090, Expressed in cortex of kidney and 235 other tissues
GenevisibleiQ13825, HS

Family and domain databases

Gene3Di1.10.12.10, 1 hit
InterProiView protein in InterPro
IPR029045, ClpP/crotonase-like_dom_sf
IPR018376, Enoyl-CoA_hyd/isom_CS
IPR001753, Enoyl-CoA_hydra/iso
IPR014748, Enoyl-CoA_hydra_C
PfamiView protein in Pfam
PF00378, ECH_1, 1 hit
SUPFAMiSSF52096, SSF52096, 1 hit
PROSITEiView protein in PROSITE
PS00166, ENOYL_COA_HYDRATASE, 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 nameiAUHM_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: Q13825
Secondary accession number(s): B1ALV7, B1ALV8, Q8WUE4
<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: September 26, 2003
Last sequence update: November 1, 1996
Last modified: February 10, 2021
This is version 187 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families
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