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UniProtKB - Q9NQG6 (MID51_HUMAN)

Entry version 145 (10 Feb 2021)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

Mitochondrial dynamics protein MID51

Gene

MIEF1

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 fission. 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 and DNM1L oligomerization. Binds ADP and can also bind GDP, although with lower affinity. Does not bind CDP, UDP, ATP, AMP or GTP. Inhibits DNM1L GTPase activity in the absence of bound ADP. Requires ADP to stimulate DNM1L GTPase activity and the assembly of DNM1L into long, oligomeric tubules with a spiral pattern, as opposed to the ring-like DNM1L oligomers observed in the absence of bound ADP. Does not require ADP for its function in recruiting DNM1L.7 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the interaction between a single amino acid and another chemical entity. Priority is given to the annotation of physiological ligands.<p><a href='/help/binding' target='_top'>More...</a></p>Binding sitei187ADP1
Binding sitei189ADP1
Binding sitei201ADP1
Binding sitei340ADP1
Binding sitei342ADP1
Binding sitei368ADP1

<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

LigandNucleotide-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NQG6

<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 MID51
Alternative name(s):
Mitochondrial dynamics protein of 51 kDa
Mitochondrial elongation factor 1
Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like
Short name:
SMCR7-like 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:MIEF1
Synonyms:MID51, SMCR7L
<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 22

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25979, MIEF1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615497, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NQG6

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000100335.12

<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 – 23Mitochondrial intermembraneSequence analysisAdd BLAST23
<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>Transmembranei24 – 46HelicalSequence analysisAdd BLAST23
Topological domaini47 – 463CytoplasmicSequence analysisAdd BLAST417

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

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>Mutagenesisi201H → D: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with E-342; E-368 and E-372. 1 Publication1
Mutagenesisi235R → A: No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication1
Mutagenesisi238 – 242Missing : No effect on mitochondrial localization. Impairs DNM1L recruitment. 1 Publication5
Mutagenesisi342R → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-368 and E-372. 1 Publication1
Mutagenesisi368K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-372. 1 Publication1
Mutagenesisi372K → E: Abolishes nucleotide-binding, but not DNM1L recruitment; when associated with D-201; E-342 and E-368. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		54471

Open Targets

More...OpenTargetsi		ENSG00000100335

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA145148068

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NQG6, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MIEF1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74752902

<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_00003104481 – 463Mitochondrial dynamics protein MID51Add BLAST463

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 residuei55PhosphoserineCombined sources1
Modified residuei59PhosphoserineCombined sources1
Modified residuei79PhosphoserineBy similarity1
Modified residuei94PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NQG6

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NQG6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NQG6

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NQG6

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

More...PaxDbi		Q9NQG6

PeptideAtlas

More...PeptideAtlasi		Q9NQG6

PRoteomics IDEntifications database

More...PRIDEi		Q9NQG6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		68833
82149 [Q9NQG6-1]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NQG6

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

More...PhosphoSitePlusi		Q9NQG6

<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

Expression is relatively high in heart, skeletal muscle, pancreas and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100335, Expressed in sperm and 242 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NQG6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NQG6, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100335, 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

Homodimer.

Interacts with DNM1L.

3 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		119977, 36 interactors

Protein interaction database and analysis system

More...IntActi		Q9NQG6, 35 interactors

Molecular INTeraction database

More...MINTi		Q9NQG6

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000327124

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NQG6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1463
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		Q9NQG6

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

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>Regioni49 – 195DimerizationAdd BLAST147
Regioni160 – 169Important for interaction with DNM1L10
Regioni234 – 242Important for interaction with DNM1L9

<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 SMCR7 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4542, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013127

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_1758184_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NQG6

Database of Orthologous Groups

More...OrthoDBi		515815at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NQG6

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 and alternative initiation. AlignAdd to basket

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

Isoform 1 (identifier: Q9NQG6-1) [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
MAGAGERKGK KDDNGIGTAI DFVLSNARLV LGVGGAAMLG IATLAVKRMY 
        60         70         80         90        100
DRAISAPTSP TRLSHSGKRS WEEPNWMGSP RLLNRDMKTG LSRSLQTLPT 
       110        120        130        140        150
DSSTFDTDTF CPPRPKPVAR KGQVDLKKSR LRMSLQEKLL TYYRNRAAIP 
       160        170        180        190        200
AGEQARAKQA AVDICAELRS FLRAKLPDMP LRDMYLSGSL YDDLQVVTAD 
       210        220        230        240        250
HIQLIVPLVL EQNLWSCIPG EDTIMNVPGF FLVRRENPEY FPRGSSYWDR 
       260        270        280        290        300
CVVGGYLSPK TVADTFEKVV AGSINWPAIG SLLDYVIRPA PPPEALTLEV 
       310        320        330        340        350
QYERDKHLFI DFLPSVTLGD TVLVAKPHRL AQYDNLWRLS LRPAETARLR 
       360        370        380        390        400
ALDQADSGCR SLCLKILKAI CKSTPALGHL TASQLTNVIL HLAQEEADWS 
       410        420        430        440        450
PDMLADRFLQ ALRGLISYLE AGVLPSALNP KVNLFAELTP EEIDELGYTL 
       460 
YCSLSEPEVL LQT
Length:463
Mass (Da):51,293
Last modified:October 1, 2000 - 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:i0824AD44305C234D
GO
Isoform 2 (identifier: Q9NQG6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     108-148: DTFCPPRPKP...LLTYYRNRAA → GETSYLLPEP...APELPAGQVA
     149-463: Missing.

Show »
Length:148
Mass (Da):15,631
Checksum:i94EAF1D4BC5604E8
GO
Isoform 3 (identifier: L0R8F8-1) [UniParc]FASTAAdd to basket
Also known as: uORF1 Publication, AltMIEF11 Publication
The sequence of this isoform can be found in the external entry L0R8F8.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.
Length:70
Mass (Da):8,445
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
B0QY95B0QY95_HUMAN
Mitochondrial dynamics protein MID5...
MIEF1 RP5-1104E15.5, hCG_41725
478Annotation 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>
B0QY94B0QY94_HUMAN
Mitochondrial dynamics protein MID5...
MIEF1
42Annotation 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>

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_03704078G → R. Corresponds to variant dbSNP:rs2272830Ensembl.1
Natural variantiVAR_03704189T → M. Corresponds to variant dbSNP:rs17001213EnsemblClinVar.1
Natural variantiVAR_037042169R → W. Corresponds to variant dbSNP:rs2232088Ensembl.1
Natural variantiVAR_037043264D → N. Corresponds to variant dbSNP:rs2232091Ensembl.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_056383108 – 148DTFCP…RNRAA → GETSYLLPEPGSHPCWRAGS GQASCCGHMCRAPELPAGQV A in isoform 2. 2 PublicationsAdd BLAST41
Alternative sequenceiVSP_056384149 – 463Missing in isoform 2. 2 PublicationsAdd BLAST315

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
AL365515 mRNA Translation: CAB97211.1
AK290954 mRNA Translation: BAF83643.1
AL834205 mRNA Translation: CAD38892.2
AL022312 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60335.1
BC002587 mRNA Translation: AAH02587.2
BC008327 mRNA Translation: AAH08327.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13995.1 [Q9NQG6-1]

NCBI Reference Sequences

More...RefSeqi		NP_001291493.1, NM_001304564.1
NP_061881.2, NM_019008.5 [Q9NQG6-1]
XP_011528538.1, XM_011530236.1 [Q9NQG6-1]
XP_011528539.1, XM_011530237.1 [Q9NQG6-1]
XP_011528540.1, XM_011530238.1 [Q9NQG6-1]
XP_016884327.1, XM_017028838.1 [Q9NQG6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000325301; ENSP00000327124; ENSG00000100335 [Q9NQG6-1]
ENST00000404569; ENSP00000385191; ENSG00000100335 [Q9NQG6-1]
ENST00000428069; ENSP00000413730; ENSG00000100335 [Q9NQG6-2]
ENST00000433117; ENSP00000404096; ENSG00000100335 [Q9NQG6-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		54471

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:54471

UCSC genome browser

More...UCSCi		uc003axx.4, human [Q9NQG6-1]

Keywords - Coding sequence diversityi

Alternative initiation, 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
AL365515 mRNA Translation: CAB97211.1
AK290954 mRNA Translation: BAF83643.1
AL834205 mRNA Translation: CAD38892.2
AL022312 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW60335.1
BC002587 mRNA Translation: AAH02587.2
BC008327 mRNA Translation: AAH08327.1
CCDSiCCDS13995.1 [Q9NQG6-1]
RefSeqiNP_001291493.1, NM_001304564.1
NP_061881.2, NM_019008.5 [Q9NQG6-1]
XP_011528538.1, XM_011530236.1 [Q9NQG6-1]
XP_011528539.1, XM_011530237.1 [Q9NQG6-1]
XP_011528540.1, XM_011530238.1 [Q9NQG6-1]
XP_016884327.1, XM_017028838.1 [Q9NQG6-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4NXTX-ray2.12A/B/C/D119-463[»]
4NXUX-ray2.30A/B/C/D119-463[»]
4NXVX-ray2.30A/B/C/D119-463[»]
4NXWX-ray2.55A119-463[»]
4NXXX-ray2.55A119-463[»]
5X9BX-ray2.70A133-463[»]
5X9CX-ray1.85A/B133-463[»]
SMRiQ9NQG6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi119977, 36 interactors
IntActiQ9NQG6, 35 interactors
MINTiQ9NQG6
STRINGi9606.ENSP00000327124

PTM databases

iPTMnetiQ9NQG6
PhosphoSitePlusiQ9NQG6

Genetic variation databases

BioMutaiMIEF1
DMDMi74752902

Proteomic databases

EPDiQ9NQG6
jPOSTiQ9NQG6
MassIVEiQ9NQG6
MaxQBiQ9NQG6
PaxDbiQ9NQG6
PeptideAtlasiQ9NQG6
PRIDEiQ9NQG6
ProteomicsDBi68833
82149 [Q9NQG6-1]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26626, 141 antibodies

The DNASU plasmid repository

More...DNASUi		54471

Genome annotation databases

EnsembliENST00000325301; ENSP00000327124; ENSG00000100335 [Q9NQG6-1]
ENST00000404569; ENSP00000385191; ENSG00000100335 [Q9NQG6-1]
ENST00000428069; ENSP00000413730; ENSG00000100335 [Q9NQG6-2]
ENST00000433117; ENSP00000404096; ENSG00000100335 [Q9NQG6-2]
GeneIDi54471
KEGGihsa:54471
UCSCiuc003axx.4, human [Q9NQG6-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		54471
DisGeNETi54471

GeneCards: human genes, protein and diseases

More...GeneCardsi		MIEF1
HGNCiHGNC:25979, MIEF1
HPAiENSG00000100335, Low tissue specificity
MIMi615497, gene
neXtProtiNX_Q9NQG6
OpenTargetsiENSG00000100335
PharmGKBiPA145148068
VEuPathDBiHostDB:ENSG00000100335.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4542, Eukaryota
GeneTreeiENSGT00390000013127
HOGENOMiCLU_1758184_0_0_1
InParanoidiQ9NQG6
OrthoDBi515815at2759
PhylomeDBiQ9NQG6
TreeFamiTF331032

Enzyme and pathway databases

PathwayCommonsiQ9NQG6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		54471, 9 hits in 861 CRISPR screens

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

More...ChiTaRSi		MIEF1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SMCR7L

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

More...GenomeRNAii		54471
PharosiQ9NQG6, Tbio

Protein Ontology

More...PROi		PR:Q9NQG6
RNActiQ9NQG6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100335, Expressed in sperm and 242 other tissues
ExpressionAtlasiQ9NQG6, baseline and differential
GenevisibleiQ9NQG6, 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 nameiMID51_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: Q9NQG6
Secondary accession number(s): Q7L890, Q9BUI3
<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: October 1, 2000
Last modified: February 10, 2021
This is version 145 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 variants curated from literature reports
    Index of human variants curated from literature reports
  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 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  6. Human entries with genetic variants
    List of human entries with genetic variants
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