PERM1_HUMAN
ID PERM1_HUMAN Reviewed; 790 AA.
AC Q5SV97; Q6ZVZ7; Q9BRF2; S5G239;
DT 11-SEP-2007, integrated into UniProtKB/Swiss-Prot.
DT 19-FEB-2014, sequence version 4.
DT 03-AUG-2022, entry version 107.
DE RecName: Full=PGC-1 and ERR-induced regulator in muscle protein 1;
DE AltName: Full=PPARGC1 and ESRR-induced regulator in muscle 1;
DE AltName: Full=Peroxisome proliferator-activated receptor gamma coactivator 1 and estrogen-related receptor-induced regulator in muscle 1;
GN Name=PERM1; Synonyms=C1orf170;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=23836911; DOI=10.1074/jbc.m113.489674;
RA Cho Y., Hazen B.C., Russell A.P., Kralli A.;
RT "Peroxisome proliferator-activated receptor gamma coactivator 1 (PGC-
RT 1)- and estrogen-related receptor (ERR)-induced regulator in muscle 1
RT (Perm1) is a tissue-specific regulator of oxidative capacity in skeletal
RT muscle cells.";
RL J. Biol. Chem. 288:25207-25218(2013).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Tongue;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Regulates the expression of selective PPARGC1A/B and
CC ESRRA/B/G target genes with roles in glucose and lipid metabolism,
CC energy transfer, contractile function, muscle mitochondrial biogenesis
CC and oxidative capacity. Required for the efficient induction of MT-CO2,
CC MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively
CC regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and
CC SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression
CC of PDK4. {ECO:0000250|UniProtKB:Q149B8}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q149B8}. Nucleus
CC {ECO:0000250|UniProtKB:Q149B8}. Note=Shows a nuclear localization in
CC the presence of PPARGC1A. {ECO:0000250|UniProtKB:Q149B8}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5SV97-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SV97-2; Sequence=VSP_027731;
CC Name=3;
CC IsoId=Q5SV97-3; Sequence=VSP_053677;
CC -!- TISSUE SPECIFICITY: Muscle-specific expression is increased by
CC endurance exercise. {ECO:0000269|PubMed:23836911}.
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DR EMBL; KF150175; AGQ48858.1; -; mRNA.
DR EMBL; AK123855; BAC85711.1; -; mRNA.
DR EMBL; AL645608; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC006300; AAH06300.1; -; mRNA.
DR CCDS; CCDS76083.1; -. [Q5SV97-1]
DR RefSeq; NP_001278295.1; NM_001291366.1. [Q5SV97-1]
DR RefSeq; NP_001278296.1; NM_001291367.1. [Q5SV97-3]
DR RefSeq; XP_016858072.1; XM_017002583.1. [Q5SV97-1]
DR RefSeq; XP_016858073.1; XM_017002584.1.
DR AlphaFoldDB; Q5SV97; -.
DR BioGRID; 124270; 1.
DR IntAct; Q5SV97; 1.
DR STRING; 9606.ENSP00000414022; -.
DR iPTMnet; Q5SV97; -.
DR PhosphoSitePlus; Q5SV97; -.
DR BioMuta; PERM1; -.
DR DMDM; 158563938; -.
DR MassIVE; Q5SV97; -.
DR PaxDb; Q5SV97; -.
DR PeptideAtlas; Q5SV97; -.
DR PRIDE; Q5SV97; -.
DR ProteomicsDB; 63932; -. [Q5SV97-1]
DR ProteomicsDB; 63933; -. [Q5SV97-2]
DR Antibodypedia; 51128; 25 antibodies from 7 providers.
DR DNASU; 84808; -.
DR Ensembl; ENST00000341290.6; ENSP00000343864.2; ENSG00000187642.9. [Q5SV97-3]
DR Ensembl; ENST00000433179.3; ENSP00000414022.3; ENSG00000187642.9. [Q5SV97-1]
DR GeneID; 84808; -.
DR KEGG; hsa:84808; -.
DR MANE-Select; ENST00000433179.4; ENSP00000414022.3; NM_001394713.1; NP_001381642.1.
DR UCSC; uc001ach.3; human. [Q5SV97-1]
DR CTD; 84808; -.
DR DisGeNET; 84808; -.
DR GeneCards; PERM1; -.
DR HGNC; HGNC:28208; PERM1.
DR HPA; ENSG00000187642; Group enriched (heart muscle, skeletal muscle, tongue).
DR MIM; 615921; gene.
DR neXtProt; NX_Q5SV97; -.
DR OpenTargets; ENSG00000187642; -.
DR VEuPathDB; HostDB:ENSG00000187642; -.
DR eggNOG; ENOG502RYI7; Eukaryota.
DR GeneTree; ENSGT00390000017652; -.
DR HOGENOM; CLU_015049_1_0_1; -.
DR InParanoid; Q5SV97; -.
DR OMA; EVQWPDT; -.
DR OrthoDB; 452214at2759; -.
DR TreeFam; TF338365; -.
DR PathwayCommons; Q5SV97; -.
DR Reactome; R-HSA-2151201; Transcriptional activation of mitochondrial biogenesis.
DR BioGRID-ORCS; 84808; 4 hits in 170 CRISPR screens.
DR ChiTaRS; PERM1; human.
DR GenomeRNAi; 84808; -.
DR Pharos; Q5SV97; Tdark.
DR PRO; PR:Q5SV97; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; Q5SV97; protein.
DR Bgee; ENSG00000187642; Expressed in apex of heart and 128 other tissues.
DR Genevisible; Q5SV97; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0014850; P:response to muscle activity; IDA:UniProtKB.
DR InterPro; IPR043442; Perm1.
DR PANTHER; PTHR47282; PTHR47282; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Nucleus; Reference proteome;
KW Transcription; Transcription regulation.
FT CHAIN 1..790
FT /note="PGC-1 and ERR-induced regulator in muscle protein 1"
FT /id="PRO_0000299540"
FT REGION 38..391
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 425..449
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 507..545
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 626..648
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 81..109
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 120..140
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 317..348
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 364..391
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 513..529
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..732
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027731"
FT VAR_SEQ 1..122
FT /note="MENFQYSVQLSDQDWAEFSATADECGLLQAGLASGDELLSSDIDQGDSSGSS
FT PPRAPPLPTGQLAAGGRSRRGCEEEDVATQQPVSRSQGEPVLALGTGQQTPSTSARAEA
FT PPSLGPGASPP -> MEPRGGGS (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_053677"
FT CONFLICT 512
FT /note="S -> G (in Ref. 2; BAC85711)"
FT /evidence="ECO:0000305"
FT CONFLICT 528
FT /note="P -> L (in Ref. 2; BAC85711)"
FT /evidence="ECO:0000305"
FT CONFLICT 615
FT /note="M -> I (in Ref. 2; BAC85711)"
FT /evidence="ECO:0000305"
FT CONFLICT 726
FT /note="F -> S (in Ref. 2; BAC85711)"
FT /evidence="ECO:0000305"
FT CONFLICT 777
FT /note="V -> A (in Ref. 1; AGQ48858 and 4; AAH06300)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 790 AA; 81351 MW; EE1E33651D99CEA3 CRC64;
MENFQYSVQL SDQDWAEFSA TADECGLLQA GLASGDELLS SDIDQGDSSG SSPPRAPPLP
TGQLAAGGRS RRGCEEEDVA TQQPVSRSQG EPVLALGTGQ QTPSTSARAE APPSLGPGAS
PPSQFSSCPG PASSGDQMQR LLQGPAPRPP GEPPGSPKSP GHSTGSQRPP DSPGAPPRSP
SRKKRRAVGA KGGGHTGASA SAQTGSPLLP AASPETAKLM AKAGQEELGP GPAGAPEPGP
RSPVQEDRPG PGLGLSTPVP VTEQGTDQIR TPRRAKLHTV STTVWEALPD VSRAKSDMAV
STPASEPQPD RDMAVSTPAS EPQSDRDMAV STPASEPQPD TDMAVSTPAS EPQPDRDMAV
SIPASKPQSD TAVSTPASEP QSSVALSTPI SKPQLDTDVA VSTPASKHGL DVALPTAGPV
AKLEVASSPP VSEAVPRMTE SSGLVSTPVP RADAAGLAWP PTRRAGPDVV EMEAVVSEPS
AGAPGCCSGA PALGLTQVPR KKKVRFSVAG PSPNKPGSGQ ASARPSAPQT ATGAHGGPGA
WEAVAVGPRP HQPRILKHLP RPPPSAVTRV GPGSSFAVTL PEAYEFFFCD TIEENEEAEA
AAAGQDPAGV QWPDMCEFFF PDVGAQRSRR RGSPEPLPRA DPVPAPIPGD PVPISIPEVY
EHFFFGEDRL EGVLGPAVPL PLQALEPPRS ASEGAGPGTP LKPAVVERLH LALRRAGELR
GPVPSFAFSQ NDMCLVFVAF ATWAVRTSDP HTPDAWKTAL LANVGTISAI RYFRRQVGQG
RRSHSPSPSS
