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UniProtKB - Q9NWS8 (RMND1_HUMAN)

Entry version 140 (25 May 2022)
Sequence version 2 (04 Apr 2006)
Previous versions | rss
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Protein

Required for meiotic nuclear division protein 1 homolog

Gene

RMND1

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

Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).

2 Publications

<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 ...

<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

Biological processProtein biosynthesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NWS8

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

More...SignaLinki		Q9NWS8

<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:
Required for meiotic nuclear division protein 1 homolog
<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:RMND1
Synonyms:C6orf96
<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 6

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:21176, RMND1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614917, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NWS8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000155906

<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

Keywords - Cellular componenti

Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined oxidative phosphorylation deficiency 11 (COXPD11)4 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA severe, multisystemic, autosomal recessive, disorder characterized by deficiencies of multiple mitochondrial respiratory enzymes leading to neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069036417R → Q in COXPD11; alters homooligomeric formation of the protein; decreases the levels of mitochondrial protein synthesis. 3 PublicationsCorresponds to variant dbSNP:rs397515421EnsemblClinVar.1

Keywords - Diseasei

Disease variant, Primary mitochondrial disease

Organism-specific databases

DisGeNET

More...DisGeNETi		55005

MalaCards human disease database

More...MalaCardsi		RMND1
MIMi614922, phenotype

Open Targets

More...OpenTargetsi		ENSG00000155906

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

More...Orphaneti		324535, Combined oxidative phosphorylation defect type 11

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162401372

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NWS8, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RMND1

Domain mapping of disease mutations (DMDM)

More...DMDMi		91208248

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 12MitochondrionSequence analysisAdd BLAST12
<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_000022973213 – 449Required for meiotic nuclear division protein 1 homologAdd BLAST437

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NWS8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NWS8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NWS8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NWS8

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

More...PaxDbi		Q9NWS8

PeptideAtlas

More...PeptideAtlasi		Q9NWS8

PRoteomics IDEntifications database

More...PRIDEi		Q9NWS8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82973 [Q9NWS8-1]
82974 [Q9NWS8-2]
82975 [Q9NWS8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NWS8

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

More...PhosphoSitePlusi		Q9NWS8

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000155906, Expressed in calcaneal tendon and 226 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NWS8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NWS8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000155906, 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

Homooligomer (PubMed:23022098, PubMed:25604853).

2 Publications

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

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120337, 198 interactors

Protein interaction database and analysis system

More...IntActi		Q9NWS8, 38 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000356272

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NWS8, 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

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9NWS8

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

<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 RMD1/sif2 family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2861, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013337

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_011220_4_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NWS8

Identification of Orthologs from Complete Genome Data

More...OMAi		QVIHVQT

Database of Orthologous Groups

More...OrthoDBi		954411at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NWS8

TreeFam database of animal gene trees

More...TreeFami		TF105813

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003734, DUF155

Pfam protein domain database

More...Pfami		View protein in Pfam
PF02582, DUF155, 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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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

This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NWS8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MPATLLRAVA RSHHILSKAH QCRRIGHLML KPLKEFENTT CSTLTIRQSL 
        60         70         80         90        100
DLFLPDKTAS GLNKSQILEM NQKKSDTSML SPLNAARCQD EKAHLPTMKS 
       110        120        130        140        150
FGTHRRVTHK PNLLGSKWFI KILKRHFSSV STETFVPKQD FPQVKRPLKA 
       160        170        180        190        200
SRTRQPSRTN LPVLSVNEDL MHCTAFATAD EYHLGNLSQD LASHGYVEVT 
       210        220        230        240        250
SLPRDAANIL VMGVENSAKE GDPGTIFFFR EGAAVFWNVK DKTMKHVMKV 
       260        270        280        290        300
LEKHEIQPYE IALVHWENEE LNYIKIEGQS KLHRGEIKLN SELDLDDAIL 
       310        320        330        340        350
EKFAFSNALC LSVKLAIWEA SLDKFIESIQ SIPEALKAGK KVKLSHEEVM 
       360        370        380        390        400
QKIGELFALR HRINLSSDFL ITPDFYWDRE NLEGLYDKTC QFLSIGRRVK 
       410        420        430        440 
VMNEKLQHCM ELTDLMRNHL NEKRALRLEW MIVILITIEV MFELGRVFF
Length:449
Mass (Da):51,604
Last modified:April 4, 2006 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iC4A7B8F6A397B385
GO
Isoform 2 (identifier: Q9NWS8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-211: Missing.

Show »
Length:238
Mass (Da):27,846
Checksum:iEC4E8714002497DC
GO
Isoform 3 (identifier: Q9NWS8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     205-208: DAAN → GTSS
     209-449: Missing.

Show »
Length:208
Mass (Da):23,411
Checksum:i8A6E6A5F589C8065
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXU0A0A087WXU0_HUMAN
Required for meiotic nuclear divisi...
RMND1
279Annotation 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>
A0A804HHY2A0A804HHY2_HUMAN
Required for meiotic nuclear divisi...
RMND1
383Annotation 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>
A0A804HHW6A0A804HHW6_HUMAN
Required for meiotic nuclear divisi...
RMND1
521Annotation 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>
A0A2R8Y4J4A0A2R8Y4J4_HUMAN
Required for meiotic nuclear divisi...
RMND1
444Annotation 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>
A0A2R8Y4P5A0A2R8Y4P5_HUMAN
Required for meiotic nuclear divisi...
RMND1
324Annotation 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>
A0A804HLE1A0A804HLE1_HUMAN
Required for meiotic nuclear divisi...
RMND1
418Annotation 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>
A0A804HKF8A0A804HKF8_HUMAN
Required for meiotic nuclear divisi...
RMND1
372Annotation 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>
A0A2R8YFC3A0A2R8YFC3_HUMAN
Required for meiotic nuclear divisi...
RMND1
247Annotation 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>
A0A2U3TZJ1A0A2U3TZJ1_HUMAN
Required for meiotic nuclear divisi...
RMND1
38Annotation 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 conflicti170L → P in BAA91299 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05186442S → I. Corresponds to variant dbSNP:rs11550103EnsemblClinVar.1
Natural variantiVAR_05186547R → H. Corresponds to variant dbSNP:rs6934360EnsemblClinVar.1
Natural variantiVAR_025754132T → M2 PublicationsCorresponds to variant dbSNP:rs3734800EnsemblClinVar.1
Natural variantiVAR_069036417R → Q in COXPD11; alters homooligomeric formation of the protein; decreases the levels of mitochondrial protein synthesis. 3 PublicationsCorresponds to variant dbSNP:rs397515421EnsemblClinVar.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_0177351 – 211Missing in isoform 2. CuratedAdd BLAST211
Alternative sequenceiVSP_017738205 – 208DAAN → GTSS in isoform 3. 1 Publication4
Alternative sequenceiVSP_017739209 – 449Missing in isoform 3. 1 PublicationAdd BLAST241

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
AK000634 mRNA Translation: BAA91299.1
AK292339 mRNA Translation: BAF85028.1
AL590413 Genomic DNA No translation available.
AL590543 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47747.1
BC012081 mRNA Translation: AAH12081.1
BC106065 mRNA Translation: AAI06066.1
BC119683 mRNA Translation: AAI19684.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS5232.1 [Q9NWS8-1]

NCBI Reference Sequences

More...RefSeqi		NP_001258866.1, NM_001271937.1
NP_060379.2, NM_017909.3 [Q9NWS8-1]
XP_005267097.1, XM_005267040.3 [Q9NWS8-2]
XP_016866477.1, XM_017010988.1 [Q9NWS8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000444024.3; ENSP00000412708.2; ENSG00000155906.20
ENST00000491268.2; ENSP00000494948.1; ENSG00000155906.20 [Q9NWS8-3]
ENST00000683724.1; ENSP00000507984.1; ENSG00000155906.20
ENST00000684301.1; ENSP00000507824.1; ENSG00000155906.20 [Q9NWS8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55005

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55005

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

More...MANE-Selecti		ENST00000444024.3; ENSP00000412708.2; NM_017909.4; NP_060379.2

UCSC genome browser

More...UCSCi		uc003qoi.4, human [Q9NWS8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK000634 mRNA Translation: BAA91299.1
AK292339 mRNA Translation: BAF85028.1
AL590413 Genomic DNA No translation available.
AL590543 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47747.1
BC012081 mRNA Translation: AAH12081.1
BC106065 mRNA Translation: AAI06066.1
BC119683 mRNA Translation: AAI19684.1
CCDSiCCDS5232.1 [Q9NWS8-1]
RefSeqiNP_001258866.1, NM_001271937.1
NP_060379.2, NM_017909.3 [Q9NWS8-1]
XP_005267097.1, XM_005267040.3 [Q9NWS8-2]
XP_016866477.1, XM_017010988.1 [Q9NWS8-2]

3D structure databases

AlphaFoldDBiQ9NWS8
ModBaseiSearch...
SWISS-MODEL-WorkspaceiSubmit a new modelling project...

Protein-protein interaction databases

BioGRIDi120337, 198 interactors
IntActiQ9NWS8, 38 interactors
STRINGi9606.ENSP00000356272

PTM databases

iPTMnetiQ9NWS8
PhosphoSitePlusiQ9NWS8

Genetic variation databases

BioMutaiRMND1
DMDMi91208248

Proteomic databases

EPDiQ9NWS8
jPOSTiQ9NWS8
MassIVEiQ9NWS8
MaxQBiQ9NWS8
PaxDbiQ9NWS8
PeptideAtlasiQ9NWS8
PRIDEiQ9NWS8
ProteomicsDBi82973 [Q9NWS8-1]
82974 [Q9NWS8-2]
82975 [Q9NWS8-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33335, 95 antibodies from 17 providers

The DNASU plasmid repository

More...DNASUi		55005

Genome annotation databases

EnsembliENST00000444024.3; ENSP00000412708.2; ENSG00000155906.20
ENST00000491268.2; ENSP00000494948.1; ENSG00000155906.20 [Q9NWS8-3]
ENST00000683724.1; ENSP00000507984.1; ENSG00000155906.20
ENST00000684301.1; ENSP00000507824.1; ENSG00000155906.20 [Q9NWS8-3]
GeneIDi55005
KEGGihsa:55005
MANE-SelectiENST00000444024.3; ENSP00000412708.2; NM_017909.4; NP_060379.2
UCSCiuc003qoi.4, human [Q9NWS8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55005
DisGeNETi55005

GeneCards: human genes, protein and diseases

More...GeneCardsi		RMND1
HGNCiHGNC:21176, RMND1
HPAiENSG00000155906, Low tissue specificity
MalaCardsiRMND1
MIMi614917, gene
614922, phenotype
neXtProtiNX_Q9NWS8
OpenTargetsiENSG00000155906
Orphaneti324535, Combined oxidative phosphorylation defect type 11
PharmGKBiPA162401372
VEuPathDBiHostDB:ENSG00000155906

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2861, Eukaryota
GeneTreeiENSGT00390000013337
HOGENOMiCLU_011220_4_0_1
InParanoidiQ9NWS8
OMAiQVIHVQT
OrthoDBi954411at2759
PhylomeDBiQ9NWS8
TreeFamiTF105813

Enzyme and pathway databases

PathwayCommonsiQ9NWS8
SignaLinkiQ9NWS8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55005, 84 hits in 1081 CRISPR screens

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

More...ChiTaRSi		RMND1, human

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

More...GenomeRNAii		55005
PharosiQ9NWS8, Tbio

Protein Ontology

More...PROi		PR:Q9NWS8
RNActiQ9NWS8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000155906, Expressed in calcaneal tendon and 226 other tissues
ExpressionAtlasiQ9NWS8, baseline and differential
GenevisibleiQ9NWS8, HS

Family and domain databases

InterProiView protein in InterPro
IPR003734, DUF155
PfamiView protein in Pfam
PF02582, DUF155, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRMND1_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: Q9NWS8
Secondary accession number(s): A8K8H4
, Q0VDG6, Q5SZ48, Q5SZ83, Q6NSC5, Q96EN7
<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: April 4, 2006
Last sequence update: April 4, 2006
Last modified: May 25, 2022
This is version 140 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
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