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UniProtKB - O60337 (MARH6_HUMAN)

Entry version 162 (23 Feb 2022)
Sequence version 2 (06 Feb 2007)
Previous versions | rss
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Protein

E3 ubiquitin-protein ligase MARCHF6

Gene

MARCHF6

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

E3 ubiquitin-protein ligase that promotes 'Lys-48'-linked ubiquitination of target proteins, leading to their proteasomal degradation (PubMed:15673284).

Promotes ubiquitination of DIO2, leading to its degradation (PubMed:19651899).

Promotes ubiquitination of SQLE, leading to its degradation (PubMed:24449766).

E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates. May cooperate with UBE2G1 (PubMed:15673284).

3 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: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.1 Publication
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi9Zinc 1PROSITE-ProRule annotation1
Metal bindingi12Zinc 1PROSITE-ProRule annotation1
Metal bindingi26Zinc 2PROSITE-ProRule annotation1
Metal bindingi28Zinc 2PROSITE-ProRule annotation1
Metal bindingi36Zinc 1PROSITE-ProRule annotation1
Metal bindingi39Zinc 1PROSITE-ProRule annotation1
Metal bindingi52Zinc 2PROSITE-ProRule annotation1
Metal bindingi55Zinc 2PROSITE-ProRule annotation1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri1 – 62RING-CH-typePROSITE-ProRule annotationAdd BLAST62

<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 functionTransferase
Biological processUbl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.2.27, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O60337

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-901032, ER Quality Control Compartment (ERQC)

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

More...SignaLinki		O60337

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

More...UniPathwayi		UPA00143

<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:
E3 ubiquitin-protein ligase MARCHF6 (EC:2.3.2.272 Publications)
Alternative name(s):
Doa10 homolog
Membrane-associated RING finger protein 6
Membrane-associated RING-CH protein VI
Short name:
MARCH-VI1 Publication
Protein TEB-43 Publications
RING finger protein 176
RING-type E3 ubiquitin transferase MARCHF6Curated
<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:MARCHF6Imported
Synonyms:KIAA0597, MARCH6, RNF176, TEB4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 5

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:30550, MARCHF6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613297, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O60337

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000145495

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 91Cytoplasmic2 PublicationsAdd BLAST91
<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>Transmembranei92 – 112HelicalSequence analysisAdd BLAST21
Topological domaini113 – 142ExtracellularSequence analysisAdd BLAST30
Transmembranei143 – 163HelicalSequence analysisAdd BLAST21
Topological domaini164 – 283CytoplasmicSequence analysisAdd BLAST120
Transmembranei284 – 304HelicalSequence analysisAdd BLAST21
Topological domaini305 – 336ExtracellularSequence analysisAdd BLAST32
Transmembranei337 – 357HelicalSequence analysisAdd BLAST21
Topological domaini358 – 376CytoplasmicSequence analysisAdd BLAST19
Transmembranei377 – 397HelicalSequence analysisAdd BLAST21
Topological domaini398 – 421ExtracellularSequence analysisAdd BLAST24
Transmembranei422 – 442HelicalSequence analysisAdd BLAST21
Topological domaini443 – 480CytoplasmicSequence analysisAdd BLAST38
Transmembranei481 – 501HelicalSequence analysisAdd BLAST21
Topological domaini502 – 519ExtracellularSequence analysisAdd BLAST18
Transmembranei520 – 540HelicalSequence analysisAdd BLAST21
Topological domaini541 – 632CytoplasmicSequence analysisAdd BLAST92
Transmembranei633 – 653HelicalSequence analysisAdd BLAST21
Topological domaini654 – 678ExtracellularSequence analysisAdd BLAST25
Transmembranei679 – 699HelicalSequence analysisAdd BLAST21
Topological domaini700 – 721CytoplasmicSequence analysisAdd BLAST22
Transmembranei722 – 742HelicalSequence analysisAdd BLAST21
Topological domaini743 – 764ExtracellularSequence analysisAdd BLAST22
Transmembranei765 – 785HelicalSequence analysisAdd BLAST21
Topological domaini786 – 815CytoplasmicSequence analysisAdd BLAST30
Transmembranei816 – 836HelicalSequence analysisAdd BLAST21
Topological domaini837 – 848ExtracellularSequence analysisAdd BLAST12
Transmembranei849 – 869HelicalSequence analysisAdd BLAST21
Topological domaini870 – 910Cytoplasmic1 PublicationAdd BLAST41

Keywords - Cellular componenti

Endoplasmic reticulum, 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

Epilepsy, familial adult myoclonic, 3 (FAME3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME3 inheritance is autosomal dominant.
Related information in OMIM

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>Mutagenesisi9C → A: Abolishes auto-ubiquitination. Loss of ubiquitin ligase activity. 2 Publications1

Keywords - Diseasei

Epilepsy

Organism-specific databases

DisGeNET

More...DisGeNETi		10299

MalaCards human disease database

More...MalaCardsi		MARCHF6
MIMi613608, phenotype

Open Targets

More...OpenTargetsi		ENSG00000145495

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

More...Orphaneti		86814, Benign adult familial myoclonic epilepsy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134869368

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O60337, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MARCH6

<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_00002742981 – 910E3 ubiquitin-protein ligase MARCHF6Add BLAST910

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 residuei1N-acetylmethionineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Auto-ubiquitinated, which results in proteasomal degradation.1 Publication

Keywords - PTMi

Acetylation, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O60337

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O60337

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O60337

MaxQB - The MaxQuant DataBase

More...MaxQBi		O60337

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

More...PaxDbi		O60337

PeptideAtlas

More...PeptideAtlasi		O60337

PRoteomics IDEntifications database

More...PRIDEi		O60337

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		4463
49363 [O60337-4]
5070

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O60337

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

More...PhosphoSitePlusi		O60337

<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

Present in brain (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000145495, Expressed in cerebellar vermis and 253 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O60337, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O60337, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000145495, 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

Interacts with DIO2 (PubMed:19651899).

Interacts with SQLE (PubMed:24449766).

2 Publications

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

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115587, 51 interactors

Database of interacting proteins

More...DIPi		DIP-56134N

Protein interaction database and analysis system

More...IntActi		O60337, 18 interactors

Molecular INTeraction database

More...MINTi		O60337

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000274140

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O60337, 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

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

More...SMRi		O60337

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

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>Regioni185 – 256DisorderedSequence analysisAdd BLAST72

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi224 – 246Acidic residuesSequence analysisAdd BLAST23

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The RING-CH-type zinc finger domain is required for E3 ligase activity.2 Publications

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri1 – 62RING-CH-typePROSITE-ProRule annotationAdd BLAST62

Keywords - Domaini

Transmembrane, Transmembrane helix, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1609, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155171

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_006373_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O60337

Identification of Orthologs from Complete Genome Data

More...OMAi		WLPIRIL

Database of Orthologous Groups

More...OrthoDBi		170933at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O60337

TreeFam database of animal gene trees

More...TreeFami		TF105777

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR011016, Znf_RING-CH
IPR013083, Znf_RING/FYVE/PHD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF12906, RINGv, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00744, RINGv, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51292, ZF_RING_CH, 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 (3+)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 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O60337-4) [UniParc]FASTAAdd to basket

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
MDTAEEDICR VCRSEGTPEK PLYHPCVCTG SIKFIHQECL VQWLKHSRKE 
        60         70         80         90        100
YCELCKHRFA FTPIYSPDMP SRLPIQDIFA GLVTSIGTAI RYWFHYTLVA 
       110        120        130        140        150
FAWLGVVPLT ACRIYKCLFT GSVSSLLTLP LDMLSTENLL ADCLQGCFVV 
       160        170        180        190        200
TCTLCAFISL VWLREQIVHG GAPIWLEHAA PPFNAAGHHQ NEAPAGGNGA 
       210        220        230        240        250
ENVAADQPAN PPAENAVVGE NPDAQDDQAE EEEEDNEEED DAGVEDAADA 
       260        270        280        290        300
NNGAQDDMNW NALEWDRAAE ELTWERMLGL DGSLVFLEHV FWVVSLNTLF 
       310        320        330        340        350
ILVFAFCPYH IGHFSLVGLG FEEHVQASHF EGLITTIVGY ILLAITLIIC 
       360        370        380        390        400
HGLATLVKFH RSRRLLGVCY IVVKVSLLVV VEIGVFPLIC GWWLDICSLE 
       410        420        430        440        450
MFDATLKDRE LSFQSAPGTT MFLHWLVGMV YVFYFASFIL LLREVLRPGV 
       460        470        480        490        500
LWFLRNLNDP DFNPVQEMIH LPIYRHLRRF ILSVIVFGSI VLLMLWLPIR 
       510        520        530        540        550
IIKSVLPNFL PYNVMLYSDA PVSELSLELL LLQVVLPALL EQGHTRQWLK 
       560        570        580        590        600
GLVRAWTVTA GYLLDLHSYL LGDQEENENS ANQQVNNNQH ARNNNAIPVV 
       610        620        630        640        650
GEGLHAAHQA ILQQGGPVGF QPYRRPLNFP LRIFLLIVFM CITLLIASLI 
       660        670        680        690        700
CLTLPVFAGR WLMSFWTGTA KIHELYTAAC GLYVCWLTIR AVTVMVAWMP 
       710        720        730        740        750
QGRRVIFQKV KEWSLMIMKT LIVAVLLAGV VPLLLGLLFE LVIVAPLRVP 
       760        770        780        790        800
LDQTPLFYPW QDWALGVLHA KIIAAITLMG PQWWLKTVIE QVYANGIRNI 
       810        820        830        840        850
DLHYIVRKLA APVISVLLLS LCVPYVIASG VVPLLGVTAE MQNLVHRRIY 
       860        870        880        890        900
PFLLMVVVLM AILSFQVRQF KRLYEHIKND KYLVGQRLVN YERKSGKQGS 
       910
SPPPPQSSQE
Length:910
Mass (Da):102,545
Last modified:February 6, 2007 - 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:iC7A96FEA45B5CA8D
GO
Isoform 2 (identifier: O60337-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-112: IYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTAC → S

Show »
Length:862
Mass (Da):97,178
Checksum:iE05382BAE7E49AF3
GO
Isoform 3 (identifier: O60337-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     7-112: DICRVCRSEG...WLGVVPLTAC → G

Show »
Length:805
Mass (Da):90,413
Checksum:i1DC90D272E92EDD9
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0B4J206A0A0B4J206_HUMAN
E3 ubiquitin-protein ligase MARCHF6
MARCHF6
608Annotation 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>
D6RHY7D6RHY7_HUMAN
E3 ubiquitin-protein ligase MARCHF6
MARCHF6
77Annotation 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 AAB66840 differs from that shown. Reason: Frameshift.Curated
The sequence AAB66840 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA25523 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti380V → VG in AAB66840 (Ref. 6) Curated1
Sequence conflicti384G → GS in AAB66840 (Ref. 6) Curated1
Sequence conflicti390C → WW in AAB66840 (Ref. 6) Curated1
Sequence conflicti395D → G in AAB66840 (Ref. 6) Curated1
Sequence conflicti399L → LG in AAB66840 (Ref. 6) Curated1
Sequence conflicti546R → K in AAB66840 (Ref. 6) 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_030251622P → L1 PublicationCorresponds to variant dbSNP:rs1062914Ensembl.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_0470357 – 112DICRV…PLTAC → G in isoform 3. 1 PublicationAdd BLAST106
Alternative sequenceiVSP_04703664 – 112IYSPD…PLTAC → S in isoform 2. 1 PublicationAdd BLAST49

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
AB011169 mRNA Translation: BAA25523.1 Different initiation.
AK296585 mRNA Translation: BAG59204.1
AK300034 mRNA Translation: BAG61845.1
AC012640 Genomic DNA No translation available.
AC092336 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08065.1
CH471102 Genomic DNA Translation: EAX08066.1
BC046148 mRNA Translation: AAH46148.1
BC136461 mRNA Translation: AAI36462.1
BC136462 mRNA Translation: AAI36463.1
BC142679 mRNA Translation: AAI42680.1
BC142694 mRNA Translation: AAI42695.1
AF009301 mRNA Translation: AAB66840.1 Sequence problems.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34135.1 [O60337-4]
CCDS59487.1 [O60337-5]
CCDS59488.1 [O60337-6]

Protein sequence database of the Protein Information Resource

More...PIRi		T00268

NCBI Reference Sequences

More...RefSeqi		NP_001257589.1, NM_001270660.1 [O60337-5]
NP_001257590.1, NM_001270661.1 [O60337-6]
NP_005876.2, NM_005885.3 [O60337-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000274140; ENSP00000274140; ENSG00000145495
ENST00000449913; ENSP00000414643; ENSG00000145495 [O60337-5]
ENST00000503788; ENSP00000425930; ENSG00000145495 [O60337-6]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10299

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10299

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

More...MANE-Selecti		ENST00000274140.10; ENSP00000274140.4; NM_005885.4; NP_005876.2

UCSC genome browser

More...UCSCi		uc003jet.3, human [O60337-4]

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
AB011169 mRNA Translation: BAA25523.1 Different initiation.
AK296585 mRNA Translation: BAG59204.1
AK300034 mRNA Translation: BAG61845.1
AC012640 Genomic DNA No translation available.
AC092336 Genomic DNA No translation available.
CH471102 Genomic DNA Translation: EAX08065.1
CH471102 Genomic DNA Translation: EAX08066.1
BC046148 mRNA Translation: AAH46148.1
BC136461 mRNA Translation: AAI36462.1
BC136462 mRNA Translation: AAI36463.1
BC142679 mRNA Translation: AAI42680.1
BC142694 mRNA Translation: AAI42695.1
AF009301 mRNA Translation: AAB66840.1 Sequence problems.
CCDSiCCDS34135.1 [O60337-4]
CCDS59487.1 [O60337-5]
CCDS59488.1 [O60337-6]
PIRiT00268
RefSeqiNP_001257589.1, NM_001270660.1 [O60337-5]
NP_001257590.1, NM_001270661.1 [O60337-6]
NP_005876.2, NM_005885.3 [O60337-4]

3D structure databases

SMRiO60337
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115587, 51 interactors
DIPiDIP-56134N
IntActiO60337, 18 interactors
MINTiO60337
STRINGi9606.ENSP00000274140

PTM databases

iPTMnetiO60337
PhosphoSitePlusiO60337

Genetic variation databases

BioMutaiMARCH6

Proteomic databases

EPDiO60337
jPOSTiO60337
MassIVEiO60337
MaxQBiO60337
PaxDbiO60337
PeptideAtlasiO60337
PRIDEiO60337
ProteomicsDBi4463
49363 [O60337-4]
5070

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22463, 152 antibodies from 29 providers

The DNASU plasmid repository

More...DNASUi		10299

Genome annotation databases

EnsembliENST00000274140; ENSP00000274140; ENSG00000145495
ENST00000449913; ENSP00000414643; ENSG00000145495 [O60337-5]
ENST00000503788; ENSP00000425930; ENSG00000145495 [O60337-6]
GeneIDi10299
KEGGihsa:10299
MANE-SelectiENST00000274140.10; ENSP00000274140.4; NM_005885.4; NP_005876.2
UCSCiuc003jet.3, human [O60337-4]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10299
DisGeNETi10299

GeneCards: human genes, protein and diseases

More...GeneCardsi		MARCHF6
HGNCiHGNC:30550, MARCHF6
HPAiENSG00000145495, Low tissue specificity
MalaCardsiMARCHF6
MIMi613297, gene
613608, phenotype
neXtProtiNX_O60337
OpenTargetsiENSG00000145495
Orphaneti86814, Benign adult familial myoclonic epilepsy
PharmGKBiPA134869368
VEuPathDBiHostDB:ENSG00000145495

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1609, Eukaryota
GeneTreeiENSGT00940000155171
HOGENOMiCLU_006373_1_0_1
InParanoidiO60337
OMAiWLPIRIL
OrthoDBi170933at2759
PhylomeDBiO60337
TreeFamiTF105777

Enzyme and pathway databases

UniPathwayiUPA00143
BRENDAi2.3.2.27, 2681
PathwayCommonsiO60337
ReactomeiR-HSA-901032, ER Quality Control Compartment (ERQC)
SignaLinkiO60337

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10299, 35 hits in 1041 CRISPR screens

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

More...ChiTaRSi		MARCH6, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		MARCH6

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

More...GenomeRNAii		10299
PharosiO60337, Tbio

Protein Ontology

More...PROi		PR:O60337
RNActiO60337, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000145495, Expressed in cerebellar vermis and 253 other tissues
ExpressionAtlasiO60337, baseline and differential
GenevisibleiO60337, HS

Family and domain databases

Gene3Di3.30.40.10, 1 hit
InterProiView protein in InterPro
IPR011016, Znf_RING-CH
IPR013083, Znf_RING/FYVE/PHD
PfamiView protein in Pfam
PF12906, RINGv, 1 hit
SMARTiView protein in SMART
SM00744, RINGv, 1 hit
PROSITEiView protein in PROSITE
PS51292, ZF_RING_CH, 1 hit

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 nameiMARH6_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: O60337
Secondary accession number(s): A5PKZ4
, B4DKJ2, B4DT33, D3DTC8, O14670, Q86X77
<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 6, 2007
Last sequence update: February 6, 2007
Last modified: February 23, 2022
This is version 162 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 5
    Human chromosome 5: 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
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