Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q7L5Y9 (MAEA_HUMAN)

Entry version 133 (02 Dec 2020)
Sequence version 1 (05 Jul 2005)
Previous versions | rss
Add a publicationFeedback
Protein

E3 ubiquitin-protein transferase MAEA

Gene

MAEA

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

Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable).By similarity1 Publication2 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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei314Essential for ubiquitin ligase activityBy similarity1

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 fingeri314 – 381RING-Gid-typePROSITE-ProRule annotationAdd BLAST68

<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 functionActin-binding, Transferase
Biological processCell cycle, Cell division, Erythrocyte maturation, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q7L5Y9

<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 transferase MAEA (EC:2.3.2.271 Publication)
Alternative name(s):
Cell proliferation-inducing gene 5 protein1 Publication
Erythroblast macrophage protein1 Publication
Human lung cancer oncogene 10 protein
Short name:
HLC-10
Macrophage erythroblast attacher
P44EMLP1 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:MAEA
Synonyms:EMP2 Publications
ORF Names:HLC10, PIG51 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 4

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000090316.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:13731, MAEA

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606801, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q7L5Y9

<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

Cell membrane, Cytoplasm, Cytoskeleton, Membrane, Nucleus

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		10296

Open Targets

More...OpenTargetsi		ENSG00000090316

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30533

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q7L5Y9, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB05389, Tetrachlorodecaoxide

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MAEA

Domain mapping of disease mutations (DMDM)

More...DMDMi		74754297

<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_00002849361 – 396E3 ubiquitin-protein transferase MAEAAdd BLAST396

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 residuei28PhosphothreonineCombined 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

Autoubiquitinated as component of the CTLH E3 ubiquitin-protein ligase complex (in vitro).1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q7L5Y9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q7L5Y9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q7L5Y9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q7L5Y9

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

More...PaxDbi		Q7L5Y9

PeptideAtlas

More...PeptideAtlasi		Q7L5Y9

PRoteomics IDEntifications database

More...PRIDEi		Q7L5Y9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68819 [Q7L5Y9-1]
68820 [Q7L5Y9-2]
68821 [Q7L5Y9-3]
68822 [Q7L5Y9-4]
68823 [Q7L5Y9-5]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q7L5Y9

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

More...PhosphoSitePlusi		Q7L5Y9

<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

Detected at macrophage membranes (at protein level). Ubiquitous.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000090316, Expressed in blood and 238 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q7L5Y9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q7L5Y9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000090316, 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

Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5 (PubMed:17467196, PubMed:29911972). Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles (PubMed:29911972).

Interacts with F-actin (PubMed:16510120).

3 Publications

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115584, 83 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q7L5Y9

Protein interaction database and analysis system

More...IntActi		Q7L5Y9, 37 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000302830

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q7L5Y9, 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		Q7L5Y9

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 <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini121 – 153LisHPROSITE-ProRule annotationAdd BLAST33
Domaini159 – 216CTLHPROSITE-ProRule annotationAdd BLAST58

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>Regioni1 – 124Extracellular and involved in cell to cell contact1 PublicationAdd BLAST124

<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 expected RING-type zinc finger domain is highly divergent and most of the expected Cys residues are not conserved (Probable). Still, the protein is required for CTLH complex E3 ubiquitin-protein transferase activity (PubMed:29911972). In addition, the conserved Cys-314 in this highly divergent region is required for ubiquitination by the yeast GID complex, suggesting a direct role in catalyzing ubiquitination (Probable).Curated1 Publication

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri314 – 381RING-Gid-typePROSITE-ProRule annotationAdd BLAST68

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0396, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153203

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_027445_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q7L5Y9

Database of Orthologous Groups

More...OrthoDBi		1087488at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q7L5Y9

TreeFam database of animal gene trees

More...TreeFami		TF314273

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR013144, CRA_dom
IPR024964, CTLH/CRA
IPR006595, CTLH_C
IPR027714, Fyv10/EMP
IPR006594, LisH
IPR044063, ZF_RING_GID

The PANTHER Classification System

More...PANTHERi		PTHR12170:SF2, PTHR12170:SF2, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10607, CLTH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00757, CRA, 1 hit
SM00668, CTLH, 1 hit
SM00667, LisH, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50897, CTLH, 1 hit
PS50896, LISH, 1 hit
PS51867, ZF_RING_GID, 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 (5+)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 5 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q7L5Y9-1) [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
MAVQESAAQL SMTLKVQEYP TLKVPYETLN KRFRAAQKNI DRETSHVTMV 
        60         70         80         90        100
VAELEKTLSG CPAVDSVVSL LDGVVEKLSV LKRKAVESIQ AEDESAKLCK 
       110        120        130        140        150
RRIEHLKEHS SDQPAAASVW KRKRMDRMMV EHLLRCGYYN TAVKLARQSG 
       160        170        180        190        200
IEDLVNIEMF LTAKEVEESL ERRETATCLA WCHDNKSRLR KMKSCLEFSL 
       210        220        230        240        250
RIQEFIELIR QNKRLDAVRH ARKHFSQAEG SQLDEVRQAM GMLAFPPDTH 
       260        270        280        290        300
ISPYKDLLDP ARWRMLIQQF RYDNYRLHQL GNNSVFTLTL QAGLSAIKTP 
       310        320        330        340        350
QCYKEDGSSK SPDCPVCSRS LNKLAQPLPM AHCANSRLVC KISGDVMNEN 
       360        370        380        390 
NPPMMLPNGY VYGYNSLLSI RQDDKVVCPR TKEVFHFSQA EKVYIM
Length:396
Mass (Da):45,287
Last modified:July 5, 2005 - 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:i361FB82BE0240C21
GO
Isoform 2 (identifier: Q7L5Y9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     153-193: Missing.
     265-265: M → TCTVAD

Show »
Length:360
Mass (Da):40,869
Checksum:i7EDD1E1771B311F0
GO
Isoform 3 (identifier: Q7L5Y9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     153-193: Missing.

Show »
Length:355
Mass (Da):40,410
Checksum:iC949C3631DCD33E1
GO
Isoform 4 (identifier: Q7L5Y9-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     152-232: EDLVNIEMFL...KHFSQAEGSQ → GTCKKALQPS...PAGWPLSHQD
     233-300: Missing.

Show »
Length:328
Mass (Da):36,122
Checksum:iD7E3935AB82BE82D
GO
Isoform 5 (identifier: Q7L5Y9-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     153-245: DLVNIEMFLT...VRQAMGMLAF → TCKKALQPSR...LQGGRQLQEP
     246-396: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:245
Mass (Da):26,802
Checksum:i937AAE595F6C83BF
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E7ESC7E7ESC7_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
434Annotation score:

Annotation score:3 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>
B4DVN3B4DVN3_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
395Annotation score:

Annotation score:3 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>
B4DQT1B4DQT1_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
348Annotation score:

Annotation score:3 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>
D6RIB6D6RIB6_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
328Annotation score:

Annotation score:3 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>
D6REW7D6REW7_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
274Annotation score:

Annotation score:2 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>
D6RID6D6RID6_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
115Annotation score:

Annotation score:2 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>
D6RDW4D6RDW4_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
245Annotation score:

Annotation score:2 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>
D6RE80D6RE80_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
183Annotation 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>
D6RA86D6RA86_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
107Annotation 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>
D6R8Z3D6R8Z3_HUMAN
E3 ubiquitin-protein transferase MA...
MAEA
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>

<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 AAC67543 differs from that shown. Sequence differs at N-terminus.Curated
The sequence AAC67543 differs from that shown. Reason: Frameshift.Curated
The sequence AAC67543 differs from that shown. Reason: Erroneous termination. Extended C-terminus.Curated
The sequence AAO85220 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AK128302 differs from that shown. Intron retention.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 conflicti32R → C in AAP74806 (Ref. 1) Curated1
Sequence conflicti56K → R in AAC67543 (PubMed:9763581).Curated1
Sequence conflicti101R → L in AAC67543 (PubMed:9763581).Curated1
Sequence conflicti123K → R in BAA91499 (PubMed:14702039).Curated1
Sequence conflicti313D → V in AAC67543 (PubMed:9763581).Curated1
Sequence conflicti327P → R in AAC67543 (PubMed:9763581).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_05115034R → C. Corresponds to variant dbSNP:rs34082974Ensembl.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_024784152 – 232EDLVN…AEGSQ → GTCKKALQPSRREPAGRGAP GHGHAGLPARHAHLPVQGPS GPCTVADADPAVPVRQLPTT PAGKQFCVHPHPAGWPLSHQ D in isoform 4. 1 PublicationAdd BLAST81
Alternative sequenceiVSP_024785153 – 245DLVNI…GMLAF → TCKKALQPSRREPAGRGAPG HGHAGLPARHAHLPVQGPSG PCTVADADPAVPVRQLPTTP AGKQFCVHPHPAGRPLSHQD TTVLQGGRQLQEP in isoform 5. 1 PublicationAdd BLAST93
Alternative sequenceiVSP_024786153 – 193Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_024788233 – 300Missing in isoform 4. 1 PublicationAdd BLAST68
Alternative sequenceiVSP_024789246 – 396Missing in isoform 5. 1 PublicationAdd BLAST151
Alternative sequenceiVSP_024790265M → TCTVAD in isoform 2. 1 Publication1

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
AY236486 mRNA Translation: AAP74806.1
AK001088 mRNA Translation: BAA91499.1
AK128302 mRNA No translation available.
AK022515 mRNA Translation: BAB14072.1
AK022586 mRNA Translation: BAB14113.1
BC001225 mRNA Translation: AAH01225.2
BC006470 mRNA Translation: AAH06470.2
AF084928 mRNA Translation: AAC67543.1 Sequence problems.
AY189687 mRNA Translation: AAO85220.1 Different initiation.
BT006957 mRNA Translation: AAP35603.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS33936.1 [Q7L5Y9-1]
CCDS33937.1 [Q7L5Y9-3]
CCDS77887.1 [Q7L5Y9-4]

NCBI Reference Sequences

More...RefSeqi		NP_001017405.1, NM_001017405.2 [Q7L5Y9-1]
NP_001284360.1, NM_001297431.1
NP_005873.2, NM_005882.4 [Q7L5Y9-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000264750; ENSP00000264750; ENSG00000090316 [Q7L5Y9-3]
ENST00000303400; ENSP00000302830; ENSG00000090316 [Q7L5Y9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10296

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10296

UCSC genome browser

More...UCSCi		uc003gda.4, human [Q7L5Y9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
AY236486 mRNA Translation: AAP74806.1
AK001088 mRNA Translation: BAA91499.1
AK128302 mRNA No translation available.
AK022515 mRNA Translation: BAB14072.1
AK022586 mRNA Translation: BAB14113.1
BC001225 mRNA Translation: AAH01225.2
BC006470 mRNA Translation: AAH06470.2
AF084928 mRNA Translation: AAC67543.1 Sequence problems.
AY189687 mRNA Translation: AAO85220.1 Different initiation.
BT006957 mRNA Translation: AAP35603.1
CCDSiCCDS33936.1 [Q7L5Y9-1]
CCDS33937.1 [Q7L5Y9-3]
CCDS77887.1 [Q7L5Y9-4]
RefSeqiNP_001017405.1, NM_001017405.2 [Q7L5Y9-1]
NP_001284360.1, NM_001297431.1
NP_005873.2, NM_005882.4 [Q7L5Y9-3]

3D structure databases

SMRiQ7L5Y9
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi115584, 83 interactors
CORUMiQ7L5Y9
IntActiQ7L5Y9, 37 interactors
STRINGi9606.ENSP00000302830

Chemistry databases

DrugBankiDB05389, Tetrachlorodecaoxide

PTM databases

iPTMnetiQ7L5Y9
PhosphoSitePlusiQ7L5Y9

Polymorphism and mutation databases

BioMutaiMAEA
DMDMi74754297

Proteomic databases

EPDiQ7L5Y9
jPOSTiQ7L5Y9
MassIVEiQ7L5Y9
MaxQBiQ7L5Y9
PaxDbiQ7L5Y9
PeptideAtlasiQ7L5Y9
PRIDEiQ7L5Y9
ProteomicsDBi68819 [Q7L5Y9-1]
68820 [Q7L5Y9-2]
68821 [Q7L5Y9-3]
68822 [Q7L5Y9-4]
68823 [Q7L5Y9-5]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		8374, 263 antibodies

The DNASU plasmid repository

More...DNASUi		10296

Genome annotation databases

EnsembliENST00000264750; ENSP00000264750; ENSG00000090316 [Q7L5Y9-3]
ENST00000303400; ENSP00000302830; ENSG00000090316 [Q7L5Y9-1]
GeneIDi10296
KEGGihsa:10296
UCSCiuc003gda.4, human [Q7L5Y9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10296
DisGeNETi10296
EuPathDBiHostDB:ENSG00000090316.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		MAEA
HGNCiHGNC:13731, MAEA
HPAiENSG00000090316, Low tissue specificity
MIMi606801, gene
neXtProtiNX_Q7L5Y9
OpenTargetsiENSG00000090316
PharmGKBiPA30533

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0396, Eukaryota
GeneTreeiENSGT00940000153203
HOGENOMiCLU_027445_0_1_1
InParanoidiQ7L5Y9
OrthoDBi1087488at2759
PhylomeDBiQ7L5Y9
TreeFamiTF314273

Enzyme and pathway databases

PathwayCommonsiQ7L5Y9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10296, 189 hits in 855 CRISPR screens

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

More...ChiTaRSi		MAEA, human

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

More...GenomeRNAii		10296
PharosiQ7L5Y9, Tbio

Protein Ontology

More...PROi		PR:Q7L5Y9
RNActiQ7L5Y9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000090316, Expressed in blood and 238 other tissues
ExpressionAtlasiQ7L5Y9, baseline and differential
GenevisibleiQ7L5Y9, HS

Family and domain databases

InterProiView protein in InterPro
IPR013144, CRA_dom
IPR024964, CTLH/CRA
IPR006595, CTLH_C
IPR027714, Fyv10/EMP
IPR006594, LisH
IPR044063, ZF_RING_GID
PANTHERiPTHR12170:SF2, PTHR12170:SF2, 1 hit
PfamiView protein in Pfam
PF10607, CLTH, 1 hit
SMARTiView protein in SMART
SM00757, CRA, 1 hit
SM00668, CTLH, 1 hit
SM00667, LisH, 1 hit
PROSITEiView protein in PROSITE
PS50897, CTLH, 1 hit
PS50896, LISH, 1 hit
PS51867, ZF_RING_GID, 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 nameiMAEA_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: Q7L5Y9
Secondary accession number(s): O95285
, Q5JB54, Q6ZRD6, Q9BQ11, Q9H9V6, Q9H9Z4, Q9NW84
<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: May 1, 2007
Last sequence update: July 5, 2005
Last modified: December 2, 2020
This is version 133 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

Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again