Seroatlas · Human Serome Atlas

RMND1

Required for meiotic nuclear division protein 1 homolog

Also known as: bA351K16.3, C6orf96, FLJ20627, RMD1, RMND1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NWS8
Gene: RMND1
Ensembl: ENSG00000155906
Chromosome: 6
Canonical length: 449 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Mitochondria
Quaternary structure: Homooligomer

OverviewNCBI Gene

The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

449 residues, UniProt reviewed canonical sequence.

>Q9NWS8|RMND1
     1  MPATLLRAVA RSHHILSKAH QCRRIGHLML KPLKEFENTT CSTLTIRQSL DLFLPDKTAS
    61  GLNKSQILEM NQKKSDTSML SPLNAARCQD EKAHLPTMKS FGTHRRVTHK PNLLGSKWFI
   121  KILKRHFSSV STETFVPKQD FPQVKRPLKA SRTRQPSRTN LPVLSVNEDL MHCTAFATAD
   181  EYHLGNLSQD LASHGYVEVT SLPRDAANIL VMGVENSAKE GDPGTIFFFR EGAAVFWNVK
   241  DKTMKHVMKV LEKHEIQPYE IALVHWENEE LNYIKIEGQS KLHRGEIKLN SELDLDDAIL
   301  EKFAFSNALC LSVKLAIWEA SLDKFIESIQ SIPEALKAGK KVKLSHEEVM QKIGELFALR
   361  HRINLSSDFL ITPDFYWDRE NLEGLYDKTC QFLSIGRRVK VMNEKLQHCM ELTDLMRNHL
   421  NEKRALRLEW MIVILITIEV MFELGRVFF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RMND1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.44
Highest tissue expression: 33 nTPM

Expression across tissuesHPA

Tissue

kidney: 33 nTPM
liver: 28 nTPM
thyroid gland: 18 nTPM
ovary: 16 nTPM
cerebral cortex: 12 nTPM
adrenal gland: 12 nTPM

Single-cell type

adipocytes: 77 nCPM
sertoli cells: 69 nCPM
proximal tubule cells: 68 nCPM
migrating cytotrophoblasts: 66 nCPM
myonuclei: 60 nCPM
fibro-adipogenic progenitors: 59 nCPM

Immune cell

non-classical monocyte: 10 nTPM
NK-cell: 8.6 nTPM
T-reg: 7.3 nTPM
MAIT T-cell: 6.5 nTPM
memory B-cell: 6.4 nTPM
naive CD4 T-cell: 6.2 nTPM

Brain region

cerebellum: 14 nTPM
white matter: 11 nTPM
cerebral cortex: 10 nTPM
hypothalamus: 10 nTPM
pons: 9.6 nTPM
medulla oblongata: 9.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RMND1.

Disease | AllUniProt

Conditions RMND1 is implicated in, by any mechanism.

Combined oxidative phosphorylation deficiency 11 (COXPD11) MIM:614922

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 379 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Combined oxidative phosphorylation defect type 11
Mitochondrial disease
Inborn genetic diseases
Nephronophthisis
Melanoma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.11
gnomAD pLI: 0
gnomAD missense Z: 0.77
DepMap mean gene effect: -0.25
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

mitochondrion

Protein domainsUniProt · Pfam · InterPro

Domain of unknown function DUF155
RMD1/Sad1-interacting
RMND1/Sif2-Sif3/Mrx10, DUF155

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RMND1 as an antibody target. Whether an autoantibody or antibody against RMND1 could matter depends on whether native RMND1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RMND1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label RMND1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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