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Protein

Myogenesis-regulating glycosidase

Gene

MYORG

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

Functioni

Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2.By similarity

Miscellaneous

The requirement of the predicted catalytic residue Asp-463 to support myogenic function strongly suggests that MYORG is an enzymatically active glycosidase in vivo, even if concrete experimental proof for enzymatic activity is still missing.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei463By similarity1
Active sitei466By similarity1
Active sitei528Proton donorBy similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionGlycosidase, Hydrolase

Protein family/group databases

CAZyiGH31 Glycoside Hydrolase Family 31

Names & Taxonomyi

Protein namesi
Recommended name:
Myogenesis-regulating glycosidaseImported (EC:3.2.1.-)
Alternative name(s):
Uncharacterized family 31 glucosidase KIAA1161
Gene namesi
Name:MYORGImported
Synonyms:KIAA1161
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000164976.8
HGNCiHGNC:19918 MYORG
neXtProtiNX_Q6NSJ0

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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 56CytoplasmicSequence analysisAdd BLAST56
Transmembranei57 – 77Helical; Signal-anchor for type II membrane proteinSequence analysisAdd BLAST21
Topological domaini78 – 714ExtracellularSequence analysisAdd BLAST637

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi463D → A: Does not change nuclear membrane localization. Does not rescue the myogenetic defect induced by depletion of endogenous MYORG. 1 Publication1

Organism-specific databases

DisGeNETi57462
OpenTargetsiENSG00000164976
PharmGKBiPA134929853

Polymorphism and mutation databases

BioMutaiKIAA1161
DMDMi158563982

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002957521 – 714Myogenesis-regulating glycosidaseAdd BLAST714

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi240N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi250N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi511N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ6NSJ0
MaxQBiQ6NSJ0
PaxDbiQ6NSJ0
PeptideAtlasiQ6NSJ0
PRIDEiQ6NSJ0
ProteomicsDBi66636

PTM databases

iPTMnetiQ6NSJ0
PhosphoSitePlusiQ6NSJ0

Expressioni

Gene expression databases

BgeeiENSG00000164976
CleanExiHS_KIAA1161
ExpressionAtlasiQ6NSJ0 baseline and differential
GenevisibleiQ6NSJ0 HS

Organism-specific databases

HPAiHPA060533
HPA067487

Interactioni

Subunit structurei

Interacts with IGF2; this interaction is required for IGF2 secretion.By similarity

Protein-protein interaction databases

BioGridi121532, 18 interactors
STRINGi9606.ENSP00000297625

Structurei

3D structure databases

ProteinModelPortaliQ6NSJ0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyl hydrolase 31 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1065 Eukaryota
COG1501 LUCA
GeneTreeiENSGT00760000119229
HOGENOMiHOG000046241
HOVERGENiHBG108028
InParanoidiQ6NSJ0
OMAiAAHWYGG
OrthoDBiEOG091G04I6
PhylomeDBiQ6NSJ0
TreeFamiTF324266

Family and domain databases

InterProiView protein in InterPro
IPR000322 Glyco_hydro_31
IPR017853 Glycoside_hydrolase_SF
PfamiView protein in Pfam
PF01055 Glyco_hydro_31, 1 hit
SUPFAMiSSF51445 SSF51445, 1 hit

Sequencei

Sequence statusi: Complete.

Q6NSJ0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLQNPQEKSQ AYPRRRRPGC YAYRQNPEAI AAAAMYTFLP DNFSPAKPKP
60 70 80 90 100
SKDLKPLLGS AVLGLLLVLA AVVAWCYYSV SLRKAERLRA ELLDLKAGGF
110 120 130 140 150
SIRNQKGEQV FRLAFRSGAL DLDSCSRDGA LLGCSLTADG LPLHFFIQTV
160 170 180 190 200
RPKDTVMCYR VRWEEAAPGR AVEHAMFLGD AAAHWYGGAE MRTQHWPIRL
210 220 230 240 250
DGQQEPQPFV TSDVYSSDAA FGGILERYWL SSRAAAIKVN DSVPFHLGWN
260 270 280 290 300
STERSLRLQA RYHDTPYKPP AGRAAAPELS YRVCVGSDVT SIHKYMVRRY
310 320 330 340 350
FNKPSRVPAP EAFRDPIWST WALYGRAVDQ DKVLRFAQQI RLHHFNSSHL
360 370 380 390 400
EIDDMYTPAY GDFDFDEVKF PNASDMFRRL RDAGFRVTLW VHPFVNYNSS
410 420 430 440 450
RFGEGVEREL FVREPTGRLP ALVRWWNGIG AVLDFTHPKA RDWFQGHLRR
460 470 480 490 500
LRSRYSVASF KFDAGEVSYL PRDFSTYRPL PDPSVWSRRY TEMALPFFSL
510 520 530 540 550
AEVRVGYQSQ NISCFFRLVD RDSVWGYDLG LRSLIPAVLT VSMLGYPFIL
560 570 580 590 600
PDMVGGNAVP QRTAGGDVPE RELYIRWLEV AAFMPAMQFS IPPWRYDAEV
610 620 630 640 650
VAIAQKFAAL RASLVAPLLL ELAGEVTDTG DPIVRPLWWI APGDETAHRI
660 670 680 690 700
DSQFLIGDTL LVAPVLEPGK QERDVYLPAG KWRSYKGELF DKTPVLLTDY
710
PVDLDEIAYF TWAS
Length:714
Mass (Da):81,087
Last modified:July 24, 2007 - v2
Checksum:iD17E4A75A81DBB46
GO

Sequence cautioni

The sequence CAI15965 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAI15966 differs from that shown. Reason: Erroneous gene model prediction.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0333594N → I1 PublicationCorresponds to variant dbSNP:rs2297776Ensembl.1
Natural variantiVAR_03336053D → E2 PublicationsCorresponds to variant dbSNP:rs4879781Ensembl.1
Natural variantiVAR_033361199R → S. Corresponds to variant dbSNP:rs12377Ensembl.1
Natural variantiVAR_033362385F → Y. Corresponds to variant dbSNP:rs7852399Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL356494 Genomic DNA Translation: CAI15965.1 Sequence problems.
AL356494 Genomic DNA Translation: CAI15966.1 Sequence problems.
BC070098 mRNA Translation: AAH70098.1
BC110493 mRNA Translation: AAI10494.1
AB032987 mRNA Translation: BAA86475.2
CCDSiCCDS78391.1
RefSeqiNP_065753.2, NM_020702.4
XP_011516268.1, XM_011517966.2
XP_016870419.1, XM_017014930.1
UniGeneiHs.522083
Hs.655456

Genome annotation databases

EnsembliENST00000297625; ENSP00000297625; ENSG00000164976
GeneIDi57462
KEGGihsa:57462
UCSCiuc033cpb.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMYORG_HUMAN
AccessioniPrimary (citable) accession number: Q6NSJ0
Secondary accession number(s): Q5T587, Q5T588, Q9ULQ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 24, 2007
Last sequence update: July 24, 2007
Last modified: June 20, 2018
This is version 111 of the entry and version 2 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

Documents

  1. Glycosyl hydrolases
    Classification of glycosyl hydrolase families and list of entries
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. SIMILARITY comments
    Index of protein domains and families

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