UniProt functional annotation for Q12849



	UniProt functional annotation for Q12849

UniProt code: Q12849.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

Function: Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G- rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences (PubMed:23473033, PubMed:23473034, PubMed:29967381). Involved in the degradosome-mediated decay of non- coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Acts by unwinding G-quadruplex RNA structures in MT- ncRNA, thus facilitating their degradation by the degradosome (PubMed:29967381). G-quadruplexes (G4) are non-canonical 4 stranded structures formed by transcripts from the light strand of mtDNA (PubMed:29967381). {ECO:0000269|PubMed:23473033, ECO:0000269|PubMed:23473034, ECO:0000269|PubMed:29967381}.

Subunit: Monomer. Found in a complex with DDX28, DHX30, FASTKD2 and FASTKD5 (PubMed:25683715). Interacts with the mitochondrial RNase P complex subunit TRMT10C/MRPP1 (PubMed:23473034). Interacts with the 2 components of the mitochondrial degradosome complex, PNPT1 and SUPV3L1, in an RNA-dependent manner (PubMed:29967381). {ECO:0000269|PubMed:23473034, ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:29967381}.

Subcellular location: [Isoform 1]: Mitochondrion matrix {ECO:0000269|PubMed:23473033, ECO:0000269|PubMed:23473034, ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:29967381}. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269|PubMed:23473033, ECO:0000269|PubMed:23473034, ECO:0000269|PubMed:25683715}.

Subcellular location: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:23473034}.

Domain: The RRM domains mediate RNA-binding. {ECO:0000269|PubMed:29967381}.

Miscellaneous: Depletion of GRSF1 by siRNA results in a combined OXPHOS assembly defect, with the prominent loss of complexes I, III, IV, and V. It also leads to altered steady-state levels of mitochondrial rRNAs and mRNAs.

Sequence caution: Sequence=AAC95399.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=AAH40485.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAY40942.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC03513.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAC86863.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=EAX05634.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



Function:		Regulator of post-transcriptional mitochondrial gene expression, required for assembly of the mitochondrial ribosome and for recruitment of mRNA and lncRNA. Binds RNAs containing the 14 base G- rich element. Preferentially binds RNAs transcribed from three contiguous genes on the light strand of mtDNA, the ND6 mRNA, and the long non-coding RNAs for MT-CYB and MT-ND5, each of which contains multiple consensus binding sequences (PubMed:23473033, PubMed:23473034, PubMed:29967381). Involved in the degradosome-mediated decay of non- coding mitochondrial transcripts (MT-ncRNA) and tRNA-like molecules (PubMed:29967381). Acts by unwinding G-quadruplex RNA structures in MT- ncRNA, thus facilitating their degradation by the degradosome (PubMed:29967381). G-quadruplexes (G4) are non-canonical 4 stranded structures formed by transcripts from the light strand of mtDNA (PubMed:29967381). {ECO:0000269\|PubMed:23473033, ECO:0000269\|PubMed:23473034, ECO:0000269\|PubMed:29967381}.


Subunit:		Monomer. Found in a complex with DDX28, DHX30, FASTKD2 and FASTKD5 (PubMed:25683715). Interacts with the mitochondrial RNase P complex subunit TRMT10C/MRPP1 (PubMed:23473034). Interacts with the 2 components of the mitochondrial degradosome complex, PNPT1 and SUPV3L1, in an RNA-dependent manner (PubMed:29967381). {ECO:0000269\|PubMed:23473034, ECO:0000269\|PubMed:25683715, ECO:0000269\|PubMed:29967381}.
Subcellular location:		[Isoform 1]: Mitochondrion matrix {ECO:0000269\|PubMed:23473033, ECO:0000269\|PubMed:23473034, ECO:0000269\|PubMed:25683715, ECO:0000269\|PubMed:29967381}. Note=Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269\|PubMed:23473033, ECO:0000269\|PubMed:23473034, ECO:0000269\|PubMed:25683715}.
Subcellular location:		[Isoform 2]: Cytoplasm {ECO:0000269\|PubMed:23473034}.
Domain:		The RRM domains mediate RNA-binding. {ECO:0000269\|PubMed:29967381}.
Miscellaneous:		Depletion of GRSF1 by siRNA results in a combined OXPHOS assembly defect, with the prominent loss of complexes I, III, IV, and V. It also leads to altered steady-state levels of mitochondrial rRNAs and mRNAs.
Sequence caution:		Sequence=AAC95399.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=AAH40485.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305}; Sequence=AAY40942.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAC03513.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=BAC86863.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites.; Evidence={ECO:0000305}; Sequence=EAX05634.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};