ID SHMOS_HUMAN Reviewed; 58 AA. AC C0HM83; DT 08-NOV-2023, integrated into UniProtKB/Swiss-Prot. DT 08-NOV-2023, sequence version 1. DT 09-APR-2025, entry version 6. DE RecName: Full=Protein SHMOOSE {ECO:0000303|PubMed:36127429}; DE AltName: Full=Small human mitochondrial ORF over serine tRNA {ECO:0000303|PubMed:36127429}; OS Homo sapiens (Human). OG Mitochondrion. OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] {ECO:0000305} RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=7219534; DOI=10.1038/290457a0; RA Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R., RA Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., RA Smith A.J.H., Staden R., Young I.G.; RT "Sequence and organization of the human mitochondrial genome."; RL Nature 290:457-465(1981). RN [2] {ECO:0000305} RP PROTEIN SEQUENCE OF 15-25 AND 42-58, FUNCTION, INTERACTION WITH IMMT, RP SUBCELLULAR LOCATION, TISSUE SPECIFICITY, VARIANT ASN-47, AND RP IDENTIFICATION BY MASS SPECTROMETRY. RX PubMed=36127429; DOI=10.1038/s41380-022-01769-3; RG Alzheimer's Disease Neuroimaging Initiative; RA Miller B., Kim S.J., Mehta H.H., Cao K., Kumagai H., Thumaty N., RA Leelaprachakul N., Braniff R.G., Jiao H., Vaughan J., Diedrich J., RA Saghatelian A., Arpawong T.E., Crimmins E.M., Ertekin-Taner N., Tubi M.A., RA Hare E.T., Braskie M.N., Decarie-Spain L., Kanoski S.E., Grodstein F., RA Bennett D.A., Zhao L., Toga A.W., Wan J., Yen K., Cohen P.; RT "Mitochondrial DNA variation in Alzheimer's disease reveals a unique RT microprotein called SHMOOSE."; RL Mol. Psychiatry 28:1813-1826(2023). RN [3] {ECO:0000305} RP ERRATUM OF PUBMED:36127429. RX PubMed=36658336; DOI=10.1038/s41380-023-01956-w; RG Alzheimer's Disease Neuroimaging Initiative; RA Miller B., Kim S.J., Mehta H.H., Cao K., Kumagai H., Thumaty N., RA Leelaprachakul N., Braniff R.G., Jiao H., Vaughan J., Diedrich J., RA Saghatelian A., Arpawong T.E., Crimmins E.M., Ertekin-Taner N., Tubi M.A., RA Hare E.T., Braskie M.N., Decarie-Spain L., Kanoski S.E., Grodstein F., RA Bennett D.A., Zhao L., Toga A.W., Wan J., Yen K., Cohen P.; RL Mol. Psychiatry 28:1827-1827(2023). CC -!- FUNCTION: Increases neural cell metabolic activity and mitochondrial CC oxygen consumption rate. {ECO:0000269|PubMed:36127429}. CC -!- SUBUNIT: Interacts with IMMT/mitofilin. {ECO:0000269|PubMed:36127429}. CC -!- INTERACTION: CC C0HM83; Q16891: IMMT; NbExp=5; IntAct=EBI-46442350, EBI-473801; CC -!- SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:36127429}. CC Nucleus {ECO:0000269|PubMed:36127429}. Note=Detected in neuronal CC mitochondria and nuclei. {ECO:0000269|PubMed:36127429}. CC -!- TISSUE SPECIFICITY: Detected in cerebrospinal fluid (at protein level). CC {ECO:0000269|PubMed:36127429}. CC -!- MISCELLANEOUS: Shows elevated expression in Alzheimer disease patient CC brains and protects against cell death in vitro in neuronal cells CC stressed with oligomerized amyloid-beta protein 42. CC {ECO:0000269|PubMed:36127429}. CC -!- MISCELLANEOUS: Intracerebroventricular administration to the rat brain CC for 24 hours results in significant alterations to the hypothalamus CC transcriptome and, to a lesser extent, the hippocampus transcriptome. CC {ECO:0000269|PubMed:36127429}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; J01415; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR IntAct; C0HM83; 1. DR Proteomes; UP000005640; Mitochondrion MT. DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR Pfam; PF23661; SHMOOSE; 1. PE 1: Evidence at protein level; KW Direct protein sequencing; Mitochondrion; Nucleus; Reference proteome. FT CHAIN 1..58 FT /note="Protein SHMOOSE" FT /id="PRO_0000458864" FT REGION 27..58 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 35..45 FT /note="Low complexity" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 46..58 FT /note="Pro residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VARIANT 47 FT /note="D -> N (risk factor for Alzheimer disease; protein FT does not protect against cell death in vitro in neuronal FT cells stressed with oligomerized amyloid-beta protein 42; FT dbSNP:rs2853499)" FT /evidence="ECO:0000269|PubMed:36127429" FT /id="VAR_088368" SQ SEQUENCE 58 AA; 6637 MW; 961C5C3F9CF34204 CRC64; MPPCLTTWLS QLLKDNSYPL VLGPKNFGAT PNKSNNHAHY YNHPNPDFPN SPHPYHPR //