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UniProtKB - Q96C03 (MID49_HUMAN)

Entry version 132 (02 Dec 2020)
Sequence version 1 (01 Dec 2001)
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Protein

Mitochondrial dynamics protein MID49

Gene

MIEF2

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Mitochondrial outer membrane protein which regulates mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity.6 Publications

Miscellaneous

Does not bind ADP or other nucleotides, in contrast to MIEF1.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96C03

<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:
Mitochondrial dynamics protein MID49
Alternative name(s):
Mitochondrial dynamics protein of 49 kDa
Mitochondrial elongation factor 2
Smith-Magenis syndrome chromosomal region candidate gene 7 protein
<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:MIEF2
Synonyms:MID49, SMCR7
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000177427.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:17920, MIEF2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615498, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96C03

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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%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 – 22Mitochondrial intermembraneSequence analysisAdd BLAST22
<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>Transmembranei23 – 43HelicalSequence analysisAdd BLAST21
Topological domaini44 – 454CytoplasmicSequence analysisAdd BLAST411

<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>Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion outer 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

A homozygous stop-gain variant in MIEF2 has been found in a patient with autosomal recessive myopathy. Clinical and biochemical features include progressive muscle weakness, intermittent muscle pain, exercise intolerance, elevated creatine kinase levels, and deficiency of multiple respiratory chain enzymes.1 Publication

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>Mutagenesisi235R → E: Unable to associate with DNM1L into filaments forming the tubular structures that wrap around the scission site. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		125170

Open Targets

More...OpenTargetsi		ENSG00000177427

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA38265

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96C03, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MIEF2

Domain mapping of disease mutations (DMDM)

More...DMDMi		74731298

<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_00003104451 – 454Mitochondrial dynamics protein MID49Add BLAST454

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 residuei13PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96C03

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96C03

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

More...PaxDbi		Q96C03

PeptideAtlas

More...PeptideAtlasi		Q96C03

PRoteomics IDEntifications database

More...PRIDEi		Q96C03

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		76139 [Q96C03-1]
76140 [Q96C03-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96C03

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

More...PhosphoSitePlusi		Q96C03

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in all tissues tested with highest expression in heart and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000177427, Expressed in vagina and 169 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96C03, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96C03, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000177427, 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 DNM1L.

4 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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		125921, 30 interactors

Protein interaction database and analysis system

More...IntActi		Q96C03, 28 interactors

Molecular INTeraction database

More...MINTi		Q96C03

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000379057

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96C03, 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		Q96C03

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

<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 MID49/MID51 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QPJX, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013127

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_046803_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96C03

Identification of Orthologs from Complete Genome Data

More...OMAi		CLTLQEK

Database of Orthologous Groups

More...OrthoDBi		515815at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96C03

TreeFam database of animal gene trees

More...TreeFami		TF331032

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR024810, Mab-21_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03281, Mab-21, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01265, Mab-21, 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. 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 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96C03-1) [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
MAEFSQKRGK RRSDEGLGSM VDFLLANARL VLGVGGAAVL GIATLAVKRF 
        60         70         80         90        100
IDRATSPRDE DDTKADSWKE LSLLKATPHL QPRPPPAALS QPVLPLAPSS 
       110        120        130        140        150
SAPEGPAETD PEVTPQLSSP APLCLTLQER LLAFERDRVT IPAAQVALAK 
       160        170        180        190        200
QLAGDIALEL QAYFRSKFPE LPFGAFVPGG PLYDGLQAGA ADHVRLLVPL 
       210        220        230        240        250
VLEPGLWSLV PGVDTVARDP RCWAVRRTQL EFCPRGSSPW DRFLVGGYLS 
       260        270        280        290        300
SRVLLELLRK ALAASVNWPA IGSLLGCLIR PSMASEELLL EVQHERLELT 
       310        320        330        340        350
VAVLVAVPGV DADDRLLLAW PLEGLAGNLW LQDLYPVEAA RLRALDDHDA 
       360        370        380        390        400
GTRRRLLLLL CAVCRGCSAL GQLGRGHLTQ VVLRLGEDNV DWTEEALGER 
       410        420        430        440        450
FLQALELLIG SLEQASLPCH FNPSVNLFSS LREEEIDDIG YALYSGLQEP 

EGLL
Length:454
Mass (Da):49,269
Last modified:December 1, 2001 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iCEE9A444C0F8BC04
GO
Isoform 2 (identifier: Q96C03-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     104-205: EGPAETDPEV...LLVPLVLEPG → GEAAGLRAGP...SLLGRAQDAA
     206-454: Missing.

Show »
Length:205
Mass (Da):20,559
Checksum:iAEBE5803EDD0C967
GO
Isoform 3 (identifier: Q96C03-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MGLSPNLDRQTM

Show »
Length:465
Mass (Da):50,482
Checksum:i249469573760B777
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KTJ4J3KTJ4_HUMAN
Mitochondrial dynamics protein MID4...
MIEF2
117Annotation 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>
J3QR30J3QR30_HUMAN
Mitochondrial dynamics protein MID4...
MIEF2
121Annotation 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>
K7EKV6K7EKV6_HUMAN
Mitochondrial dynamics protein MID4...
MIEF2
159Annotation 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>
A8MT25A8MT25_HUMAN
Mitochondrial dynamics protein MID4...
MIEF2
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti249L → F in BAB71108 (PubMed:14702039).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_08155381 – 454Missing Probable disease-associated variant found in a patient with autosomal recessive myopathy; patient cells have reduced MIEF2 protein levels and show elongated mitochondria and increased mitochondrial fusion events. 1 PublicationAdd BLAST374
Natural variantiVAR_037038324G → E. Corresponds to variant dbSNP:rs12603700Ensembl.1
Natural variantiVAR_037039354R → Q. Corresponds to variant dbSNP:rs3751981Ensembl.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_0476501M → MGLSPNLDRQTM in isoform 3. Curated1
Alternative sequenceiVSP_029358104 – 205EGPAE…VLEPG → GEAAGLRAGPCDHPSSPGGF GQTAGWRHRPGAAGLLSEQV PGTALWGIRAWGAALRRAAG GGCGPCASPGATGAGAGPVE PGAGRGHCGEGPSLLGRAQD AA in isoform 2. 1 PublicationAdd BLAST102
Alternative sequenceiVSP_029359206 – 454Missing in isoform 2. 1 PublicationAdd BLAST249

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
AF467443 mRNA Translation: AAL78340.1
AK056165 mRNA Translation: BAB71108.1
AK128310 mRNA Translation: BAC87377.1
AC127537 Genomic DNA No translation available.
CH471196 Genomic DNA Translation: EAW55651.1
CH471196 Genomic DNA Translation: EAW55652.1
BC014973 mRNA Translation: AAH14973.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11193.1 [Q96C03-1]
CCDS45624.1 [Q96C03-3]
CCDS45625.1 [Q96C03-2]

NCBI Reference Sequences

More...RefSeqi		NP_001138372.1, NM_001144900.1 [Q96C03-2]
NP_631901.2, NM_139162.3 [Q96C03-1]
NP_683684.2, NM_148886.1 [Q96C03-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000323019; ENSP00000323591; ENSG00000177427 [Q96C03-1]
ENST00000395704; ENSP00000379056; ENSG00000177427 [Q96C03-2]
ENST00000395706; ENSP00000379057; ENSG00000177427 [Q96C03-3]
ENST00000640122; ENSP00000491181; ENSG00000284495 [Q96C03-1]
ENST00000640339; ENSP00000492195; ENSG00000284495 [Q96C03-3]
ENST00000640637; ENSP00000490984; ENSG00000284495 [Q96C03-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		125170

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:125170

UCSC genome browser

More...UCSCi		uc002gst.4, human [Q96C03-1]

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
AF467443 mRNA Translation: AAL78340.1
AK056165 mRNA Translation: BAB71108.1
AK128310 mRNA Translation: BAC87377.1
AC127537 Genomic DNA No translation available.
CH471196 Genomic DNA Translation: EAW55651.1
CH471196 Genomic DNA Translation: EAW55652.1
BC014973 mRNA Translation: AAH14973.1
CCDSiCCDS11193.1 [Q96C03-1]
CCDS45624.1 [Q96C03-3]
CCDS45625.1 [Q96C03-2]
RefSeqiNP_001138372.1, NM_001144900.1 [Q96C03-2]
NP_631901.2, NM_139162.3 [Q96C03-1]
NP_683684.2, NM_148886.1 [Q96C03-3]

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
5WP9electron microscopy4.22B/D/F/H/J/L/N/P126-454[»]
SMRiQ96C03
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi125921, 30 interactors
IntActiQ96C03, 28 interactors
MINTiQ96C03
STRINGi9606.ENSP00000379057

PTM databases

iPTMnetiQ96C03
PhosphoSitePlusiQ96C03

Polymorphism and mutation databases

BioMutaiMIEF2
DMDMi74731298

Proteomic databases

jPOSTiQ96C03
MassIVEiQ96C03
PaxDbiQ96C03
PeptideAtlasiQ96C03
PRIDEiQ96C03
ProteomicsDBi76139 [Q96C03-1]
76140 [Q96C03-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		49918, 66 antibodies

The DNASU plasmid repository

More...DNASUi		125170

Genome annotation databases

EnsembliENST00000323019; ENSP00000323591; ENSG00000177427 [Q96C03-1]
ENST00000395704; ENSP00000379056; ENSG00000177427 [Q96C03-2]
ENST00000395706; ENSP00000379057; ENSG00000177427 [Q96C03-3]
ENST00000640122; ENSP00000491181; ENSG00000284495 [Q96C03-1]
ENST00000640339; ENSP00000492195; ENSG00000284495 [Q96C03-3]
ENST00000640637; ENSP00000490984; ENSG00000284495 [Q96C03-2]
GeneIDi125170
KEGGihsa:125170
UCSCiuc002gst.4, human [Q96C03-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		125170
DisGeNETi125170
EuPathDBiHostDB:ENSG00000177427.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		MIEF2
HGNCiHGNC:17920, MIEF2
HPAiENSG00000177427, Low tissue specificity
MIMi615498, gene
neXtProtiNX_Q96C03
OpenTargetsiENSG00000177427
PharmGKBiPA38265

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QPJX, Eukaryota
GeneTreeiENSGT00390000013127
HOGENOMiCLU_046803_0_0_1
InParanoidiQ96C03
OMAiCLTLQEK
OrthoDBi515815at2759
PhylomeDBiQ96C03
TreeFamiTF331032

Enzyme and pathway databases

PathwayCommonsiQ96C03

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		125170, 7 hits in 830 CRISPR screens

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

More...ChiTaRSi		MIEF2, human

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

More...GenomeRNAii		125170
PharosiQ96C03, Tbio

Protein Ontology

More...PROi		PR:Q96C03
RNActiQ96C03, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000177427, Expressed in vagina and 169 other tissues
ExpressionAtlasiQ96C03, baseline and differential
GenevisibleiQ96C03, HS

Family and domain databases

InterProiView protein in InterPro
IPR024810, Mab-21_dom
PfamiView protein in Pfam
PF03281, Mab-21, 1 hit
SMARTiView protein in SMART
SM01265, Mab-21, 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 nameiMID49_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: Q96C03
Secondary accession number(s): J3KPT3, Q6ZRD4, Q96N07
<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: November 13, 2007
Last sequence update: December 1, 2001
Last modified: December 2, 2020
This is version 132 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, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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