Q9NZJ5

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession E2AK3_HUMAN; Q9NZJ5;
Entrez ID 9451
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Eukaryotic translation initiation factor 2-alpha kinase 3 (EC 2.7.11.1) (PRKR-like endoplasmic reticulum kinase) (Pancreatic eIF2-alpha kinase) (HsPEK)
Gene Name EIF2AK3; PEK; PERK
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionMetabolic-stress sensing protein kinase that phosphorylates the alpha subunit of eukaryotic translation initiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' during the unfolded protein response (UPR) and in response to low amino acid availability. Converts phosphorylated eIF-2-alpha/EIF2S1 either in a global protein synthesis inhibitor, leading to a reduced overall utilization of amino acids, or to a translation initiation activator of specific mRNAs, such as the transcriptional activator ATF4, and hence allowing ATF4-mediated reprogramming of amino acid biosynthetic gene expression to alleviate nutrient depletion. Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1). Involved in control of mitochondrial morphology and function.
Sequence
(Fasta)
MERAISPGLL VRALLLLLLL LGLAARTVAA GRARGLPAPT AEAAFGLGAA AAPTSATRVP 60
AAGAVAAAEV TVEDAEALPA AAGEQEPRGP EPDDETELRP RGRSLVIIST LDGRIAALDP 120
ENHGKKQWDL DVGSGSLVSS SLSKPEVFGN KMIIPSLDGA LFQWDQDRES METVPFTVES 180
LLESSYKFGD DVVLVGGKSL TTYGLSAYSG KVRYICSALG CRQWDSDEME QEEDILLLQR 240
TQKTVRAVGP RSGNEKWNFS VGHFELRYIP DMETRAGFIE STFKPNENTE ESKIISDVEE 300
QEAAIMDIVI KVSVADWKVM AFSKKGGHLE WEYQFCTPIA SAWLLKDGKV IPISLFDDTS 360
YTSNDDVLED EEDIVEAARG ATENSVYLGM YRGQLYLQSS VRISEKFPSS PKALESVTNE 420
NAIIPLPTIK WKPLIHSPSR TPVLVGSDEF DKCLSNDKFS HEEYSNGALS ILQYPYDNGY 480
YLPYYKRERN KRSTQITVRF LDNPHYNKNI RKKDPVLLLH WWKEIVATIL FCIIATTFIV 540
RRLFHPHPHR QRKESETQCQ TENKYDSVSG EANDSSWNDI KNSGYISRYL TDFEPIQCLG 600
RGGFGVVFEA KNKVDDCNYA IKRIRLPNRE LAREKVMREV KALAKLEHPG IVRYFNAWLE 660
APPEKWQEKM DEIWLKDEST DWPLSSPSPM DAPSVKIRRM DPFATKEHIE IIAPSPQRSR 720
SFSVGISCDQ TSSSESQFSP LEFSGMDHED ISESVDAAYN LQDSCLTDCD VEDGTMDGND 780
EGHSFELCPS EASPYVRSRE RTSSSIVFED SGCDNASSKE EPKTNRLHIG NHCANKLTAF 840
KPTSSKSSSE ATLSISPPRP TTLSLDLTKN TTEKLQPSSP KVYLYIQMQL CRKENLKDWM 900
NGRCTIEERE RSVCLHIFLQ IAEAVEFLHS KGLMHRDLKP SNIFFTMDDV VKVGDFGLVT 960
AMDQDEEEQT VLTPMPAYAR HTGQVGTKLY MSPEQIHGNS YSHKVDIFSL GLILFELLYP 1020
FSTQMERVRT LTDVRNLKFP PLFTQKYPCE YVMVQDMLSP SPMERPEAIN IIENAVFEDL 1080
DFPGKTVLRQ RSRSLSSSGT KHSRQSNNSH SPLPSN 1117

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1PhosphorylationAlzheimer's diseaseP24319643
[Reference]: Regarding the PERK pathway, in the rTg4510 tau-based Alzheimer mouse model a significant increase in activated phosphorylated PERK was observed at 9 month of age

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 4)
MESH:D017202 ; Myocardial Ischemia
MESH:D013226 ; Status Epilepticus
MESH:D013494 ; Supranuclear Palsy, Progressive
MESH:C536739 ; Wolcott-Rallison syndrome
HGMD
(count: 17)
(view all)
CD042195; Wolcott-Rallison syndrome; Small deletions
CD042196; Wolcott-Rallison syndrome; Small deletions
CD032459; Wolcott-Rallison syndrome; Small deletions
CD042194; Wolcott-Rallison syndrome; Small deletions
CG044323; Wolcott-Rallison syndrome; Gross deletions
CP044515; Wolcott-Rallison syndrome; Small indels
GWASdb
(count: 6)
rs6739095; Urinary metabolites; kidney disease
rs7571971; Progressive supranuclear palsy; progressive supranuclear palsy
rs1913671; Urinary metabolites; kidney disease
rs867529; Height; Null
rs11684404; Height; Null
rs11684404; Urinary metabolites; kidney disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 43)
(view all)
1094      VLRQRSRSLSSSGTK     dbPAF
1096      RQRSRSLSSSGTKHS     dbPAF
1106      GTKHSRQSNNSHSPL     dbPAF
1109      HSRQSNNSHSPLPSN     dbPAF
1111      RQSNNSHSPLPSN**     dbPAF
177       SMETVPFTVESLLES     dbPAF
Acetylation
(count: 1)
836       IGNHCANKLTAFKPT     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource