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Protein

PGC-1 and ERR-induced regulator in muscle protein 1

Gene

PERM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Regulates the expression of selective PPARGC1A/B and ESRRA/B/G target genes with roles in glucose and lipid metabolism, energy transfer, contractile function, muscle mitochondrial biogenesis and oxidative capacity. Required for the efficient induction of MT-CO2, MT-CO3, COX4I1, TFB1M, TFB2M, POLRMT and SIRT3 by PPARGC1A. Positively regulates the PPARGC1A/ESRRG-induced expression of CKMT2, TNNI3 and SLC2A4 and negatively regulates the PPARGC1A/ESRRG-induced expression of PDK4.By similarity

GO - Biological processi

Keywordsi

Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-2151201 Transcriptional activation of mitochondrial biogenesis

Names & Taxonomyi

Protein namesi
Recommended name:
PGC-1 and ERR-induced regulator in muscle protein 1
Alternative name(s):
PPARGC1 and ESRR-induced regulator in muscle 1
Peroxisome proliferator-activated receptor gamma coactivator 1 and estrogen-related receptor-induced regulator in muscle 1
Gene namesi
Name:PERM1
Synonyms:C1orf170
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000187642.9
HGNCiHGNC:28208 PERM1
MIMi615921 gene
neXtProtiNX_Q5SV97

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi84808
OpenTargetsiENSG00000187642

Polymorphism and mutation databases

DMDMi158563938

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002995401 – 790PGC-1 and ERR-induced regulator in muscle protein 1Add BLAST790

Proteomic databases

PaxDbiQ5SV97
PeptideAtlasiQ5SV97
PRIDEiQ5SV97
ProteomicsDBi63932
63933 [Q5SV97-2]

PTM databases

iPTMnetiQ5SV97
PhosphoSitePlusiQ5SV97

Expressioni

Tissue specificityi

Muscle-specific expression is increased by endurance exercise.1 Publication

Gene expression databases

BgeeiENSG00000187642 Expressed in 103 organ(s), highest expression level in heart left ventricle
CleanExiHS_C1orf170
GenevisibleiQ5SV97 HS

Organism-specific databases

HPAiHPA031711
HPA031712

Interactioni

Protein-protein interaction databases

BioGridi124270, 1 interactor
IntActiQ5SV97, 8 interactors

Structurei

3D structure databases

ProteinModelPortaliQ5SV97
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi11 – 86Pro-richAdd BLAST76

Phylogenomic databases

eggNOGiENOG410J2KK Eukaryota
ENOG410Z4B6 LUCA
GeneTreeiENSGT00390000017652
HOGENOMiHOG000111261
HOVERGENiHBG107561
InParanoidiQ5SV97
OMAiSQNDMCL
OrthoDBiEOG091G06XR
TreeFamiTF338365

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q5SV97-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MENFQYSVQL SDQDWAEFSA TADECGLLQA GLASGDELLS SDIDQGDSSG
60 70 80 90 100
SSPPRAPPLP TGQLAAGGRS RRGCEEEDVA TQQPVSRSQG EPVLALGTGQ
110 120 130 140 150
QTPSTSARAE APPSLGPGAS PPSQFSSCPG PASSGDQMQR LLQGPAPRPP
160 170 180 190 200
GEPPGSPKSP GHSTGSQRPP DSPGAPPRSP SRKKRRAVGA KGGGHTGASA
210 220 230 240 250
SAQTGSPLLP AASPETAKLM AKAGQEELGP GPAGAPEPGP RSPVQEDRPG
260 270 280 290 300
PGLGLSTPVP VTEQGTDQIR TPRRAKLHTV STTVWEALPD VSRAKSDMAV
310 320 330 340 350
STPASEPQPD RDMAVSTPAS EPQSDRDMAV STPASEPQPD TDMAVSTPAS
360 370 380 390 400
EPQPDRDMAV SIPASKPQSD TAVSTPASEP QSSVALSTPI SKPQLDTDVA
410 420 430 440 450
VSTPASKHGL DVALPTAGPV AKLEVASSPP VSEAVPRMTE SSGLVSTPVP
460 470 480 490 500
RADAAGLAWP PTRRAGPDVV EMEAVVSEPS AGAPGCCSGA PALGLTQVPR
510 520 530 540 550
KKKVRFSVAG PSPNKPGSGQ ASARPSAPQT ATGAHGGPGA WEAVAVGPRP
560 570 580 590 600
HQPRILKHLP RPPPSAVTRV GPGSSFAVTL PEAYEFFFCD TIEENEEAEA
610 620 630 640 650
AAAGQDPAGV QWPDMCEFFF PDVGAQRSRR RGSPEPLPRA DPVPAPIPGD
660 670 680 690 700
PVPISIPEVY EHFFFGEDRL EGVLGPAVPL PLQALEPPRS ASEGAGPGTP
710 720 730 740 750
LKPAVVERLH LALRRAGELR GPVPSFAFSQ NDMCLVFVAF ATWAVRTSDP
760 770 780 790
HTPDAWKTAL LANVGTISAI RYFRRQVGQG RRSHSPSPSS
Length:790
Mass (Da):81,351
Last modified:February 19, 2014 - v4
Checksum:iEE1E33651D99CEA3
GO
Isoform 2 (identifier: Q5SV97-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-732: Missing.

Note: No experimental confirmation available.
Show »
Length:58
Mass (Da):6,403
Checksum:iC00E469C5E57CD9E
GO
Isoform 3 (identifier: Q5SV97-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: MENFQYSVQL...PSLGPGASPP → MEPRGGGS

Show »
Length:676
Mass (Da):69,700
Checksum:i75BD0047C3540CB6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti512S → G in BAC85711 (PubMed:14702039).Curated1
Sequence conflicti528P → L in BAC85711 (PubMed:14702039).Curated1
Sequence conflicti615M → I in BAC85711 (PubMed:14702039).Curated1
Sequence conflicti726F → S in BAC85711 (PubMed:14702039).Curated1
Sequence conflicti777V → A in AGQ48858 (PubMed:23836911).Curated1
Sequence conflicti777V → A in AAH06300 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0277311 – 732Missing in isoform 2. 1 PublicationAdd BLAST732
Alternative sequenceiVSP_0536771 – 122MENFQ…GASPP → MEPRGGGS in isoform 3. 1 PublicationAdd BLAST122

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
KF150175 mRNA Translation: AGQ48858.1
AK123855 mRNA Translation: BAC85711.1
AL645608 Genomic DNA No translation available.
BC006300 mRNA Translation: AAH06300.1
CCDSiCCDS76083.1 [Q5SV97-1]
RefSeqiNP_001278295.1, NM_001291366.1 [Q5SV97-1]
NP_001278296.1, NM_001291367.1
XP_016858072.1, XM_017002583.1 [Q5SV97-1]
XP_016858073.1, XM_017002584.1 [Q5SV97-1]
UniGeneiHs.271462

Genome annotation databases

EnsembliENST00000341290; ENSP00000343864; ENSG00000187642 [Q5SV97-3]
ENST00000433179; ENSP00000414022; ENSG00000187642 [Q5SV97-1]
GeneIDi84808
KEGGihsa:84808
UCSCiuc001ach.3 human [Q5SV97-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiPERM1_HUMAN
AccessioniPrimary (citable) accession number: Q5SV97
Secondary accession number(s): Q6ZVZ7, Q9BRF2, S5G239
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: February 19, 2014
Last modified: September 12, 2018
This is version 85 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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