UniProtKB - Q9NWS8 (RMND1_HUMAN)
Required for meiotic nuclear division protein 1 homolog
RMND1
Functioni
Required for mitochondrial translation, possibly by coordinating the assembly or maintenance of the mitochondrial ribosome (PubMed:23022098, PubMed:25604853).
2 PublicationsGO - Biological processi
- positive regulation of mitochondrial translation Source: UniProtKB
- translation Source: UniProtKB-KW
Keywordsi
Biological process | Protein biosynthesis |
Enzyme and pathway databases
PathwayCommonsi | Q9NWS8 |
SignaLinki | Q9NWS8 |
Names & Taxonomyi
Protein namesi | Recommended name: Required for meiotic nuclear division protein 1 homolog |
Gene namesi | Name:RMND1 Synonyms:C6orf96 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21176, RMND1 |
MIMi | 614917, gene |
neXtProti | NX_Q9NWS8 |
VEuPathDBi | HostDB:ENSG00000155906 |
Subcellular locationi
Mitochondrion
- Mitochondrion 3 Publications
Note: May be localized in mitochondrial RNA granules (PubMed:25604853).1 Publication
Mitochondrion
- mitochondrion Source: UniProtKB
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Combined oxidative phosphorylation deficiency 11 (COXPD11)4 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_069036 | 417 | R → 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 diseaseOrganism-specific databases
DisGeNETi | 55005 |
MalaCardsi | RMND1 |
MIMi | 614922, phenotype |
OpenTargetsi | ENSG00000155906 |
Orphaneti | 324535, Combined oxidative phosphorylation defect type 11 |
PharmGKBi | PA162401372 |
Miscellaneous databases
Pharosi | Q9NWS8, Tbio |
Genetic variation databases
BioMutai | RMND1 |
DMDMi | 91208248 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 12 | MitochondrionSequence analysisAdd BLAST | 12 | |
ChainiPRO_0000229732 | 13 – 449 | Required for meiotic nuclear division protein 1 homologAdd BLAST | 437 |
Proteomic databases
EPDi | Q9NWS8 |
jPOSTi | Q9NWS8 |
MassIVEi | Q9NWS8 |
MaxQBi | Q9NWS8 |
PaxDbi | Q9NWS8 |
PeptideAtlasi | Q9NWS8 |
PRIDEi | Q9NWS8 |
ProteomicsDBi | 82973 [Q9NWS8-1] 82974 [Q9NWS8-2] 82975 [Q9NWS8-3] |
PTM databases
iPTMneti | Q9NWS8 |
PhosphoSitePlusi | Q9NWS8 |
Expressioni
Gene expression databases
Bgeei | ENSG00000155906, Expressed in calcaneal tendon and 226 other tissues |
ExpressionAtlasi | Q9NWS8, baseline and differential |
Genevisiblei | Q9NWS8, HS |
Organism-specific databases
HPAi | ENSG00000155906, Low tissue specificity |
Interactioni
Subunit structurei
Binary interactionsi
Q9NWS8
With | #Exp. | IntAct |
---|---|---|
FAM9B [Q8IZU0] | 3 | EBI-4401316,EBI-10175124 |
Isoform 3 [Q9NWS8-3]
Protein-protein interaction databases
BioGRIDi | 120337, 198 interactors |
IntActi | Q9NWS8, 38 interactors |
STRINGi | 9606.ENSP00000356272 |
Miscellaneous databases
RNActi | Q9NWS8, protein |
Structurei
3D structure databases
AlphaFoldDBi | Q9NWS8 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Family & Domainsi
Sequence similaritiesi
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2861, Eukaryota |
GeneTreei | ENSGT00390000013337 |
HOGENOMi | CLU_011220_4_0_1 |
InParanoidi | Q9NWS8 |
OMAi | QVIHVQT |
OrthoDBi | 954411at2759 |
PhylomeDBi | Q9NWS8 |
TreeFami | TF105813 |
Family and domain databases
InterProi | View protein in InterPro IPR003734, DUF155 |
Pfami | View protein in Pfam PF02582, DUF155, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A087WXU0 | A0A087WXU0_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 279 | Annotation score: | ||
A0A804HHY2 | A0A804HHY2_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 383 | Annotation score: | ||
A0A804HHW6 | A0A804HHW6_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 521 | Annotation score: | ||
A0A2R8Y4J4 | A0A2R8Y4J4_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 444 | Annotation score: | ||
A0A2R8Y4P5 | A0A2R8Y4P5_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 324 | Annotation score: | ||
A0A804HLE1 | A0A804HLE1_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 418 | Annotation score: | ||
A0A804HKF8 | A0A804HKF8_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 372 | Annotation score: | ||
A0A2R8YFC3 | A0A2R8YFC3_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 247 | Annotation score: | ||
A0A2U3TZJ1 | A0A2U3TZJ1_HUMAN | Required for meiotic nuclear divisi... | RMND1 | 38 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 170 | L → P in BAA91299 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_051864 | 42 | S → I. Corresponds to variant dbSNP:rs11550103EnsemblClinVar. | 1 | |
Natural variantiVAR_051865 | 47 | R → H. Corresponds to variant dbSNP:rs6934360EnsemblClinVar. | 1 | |
Natural variantiVAR_025754 | 132 | T → M2 PublicationsCorresponds to variant dbSNP:rs3734800EnsemblClinVar. | 1 | |
Natural variantiVAR_069036 | 417 | R → 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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017735 | 1 – 211 | Missing in isoform 2. CuratedAdd BLAST | 211 | |
Alternative sequenceiVSP_017738 | 205 – 208 | DAAN → GTSS in isoform 3. 1 Publication | 4 | |
Alternative sequenceiVSP_017739 | 209 – 449 | Missing in isoform 3. 1 PublicationAdd BLAST | 241 |
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 |
CCDSi | CCDS5232.1 [Q9NWS8-1] |
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
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] |
GeneIDi | 55005 |
KEGGi | hsa:55005 |
MANE-Selecti | ENST00000444024.3; ENSP00000412708.2; NM_017909.4; NP_060379.2 |
UCSCi | uc003qoi.4, human [Q9NWS8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS5232.1 [Q9NWS8-1] |
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] |
3D structure databases
AlphaFoldDBi | Q9NWS8 |
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120337, 198 interactors |
IntActi | Q9NWS8, 38 interactors |
STRINGi | 9606.ENSP00000356272 |
PTM databases
iPTMneti | Q9NWS8 |
PhosphoSitePlusi | Q9NWS8 |
Genetic variation databases
BioMutai | RMND1 |
DMDMi | 91208248 |
Proteomic databases
EPDi | Q9NWS8 |
jPOSTi | Q9NWS8 |
MassIVEi | Q9NWS8 |
MaxQBi | Q9NWS8 |
PaxDbi | Q9NWS8 |
PeptideAtlasi | Q9NWS8 |
PRIDEi | Q9NWS8 |
ProteomicsDBi | 82973 [Q9NWS8-1] 82974 [Q9NWS8-2] 82975 [Q9NWS8-3] |
Protocols and materials databases
Antibodypediai | 33335, 95 antibodies from 17 providers |
DNASUi | 55005 |
Genome annotation databases
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] |
GeneIDi | 55005 |
KEGGi | hsa:55005 |
MANE-Selecti | ENST00000444024.3; ENSP00000412708.2; NM_017909.4; NP_060379.2 |
UCSCi | uc003qoi.4, human [Q9NWS8-1] |
Organism-specific databases
CTDi | 55005 |
DisGeNETi | 55005 |
GeneCardsi | RMND1 |
HGNCi | HGNC:21176, RMND1 |
HPAi | ENSG00000155906, Low tissue specificity |
MalaCardsi | RMND1 |
MIMi | 614917, gene 614922, phenotype |
neXtProti | NX_Q9NWS8 |
OpenTargetsi | ENSG00000155906 |
Orphaneti | 324535, Combined oxidative phosphorylation defect type 11 |
PharmGKBi | PA162401372 |
VEuPathDBi | HostDB:ENSG00000155906 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2861, Eukaryota |
GeneTreei | ENSGT00390000013337 |
HOGENOMi | CLU_011220_4_0_1 |
InParanoidi | Q9NWS8 |
OMAi | QVIHVQT |
OrthoDBi | 954411at2759 |
PhylomeDBi | Q9NWS8 |
TreeFami | TF105813 |
Enzyme and pathway databases
PathwayCommonsi | Q9NWS8 |
SignaLinki | Q9NWS8 |
Miscellaneous databases
BioGRID-ORCSi | 55005, 84 hits in 1081 CRISPR screens |
ChiTaRSi | RMND1, human |
GenomeRNAii | 55005 |
Pharosi | Q9NWS8, Tbio |
PROi | PR:Q9NWS8 |
RNActi | Q9NWS8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000155906, Expressed in calcaneal tendon and 226 other tissues |
ExpressionAtlasi | Q9NWS8, baseline and differential |
Genevisiblei | Q9NWS8, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003734, DUF155 |
Pfami | View protein in Pfam PF02582, DUF155, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | RMND1_HUMAN | |
Accessioni | Q9NWS8Primary (citable) accession number: Q9NWS8 Secondary accession number(s): A8K8H4 Q96EN7 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families