dbPAF Protein Information


Tag Content
dbPAF ID dbPAF-0000122
Uniprot Accession O00522; KRIT1_HUMAN; A6NNU0; O43894; Q506L6; Q6U276; Q75N19; Q9H180; Q9H264; Q9HAX5;
Genbank Protein ID NP_001013424.1; NP_004903.2; NP_919436.1; NP_919437.1; NP_919438.1; XP_005250717.1; XP_005250719.1; XP_005250721.1; XP_005250722.1; XP_005250723.1; XP_005250724.1; XP_005250725.1; XP_005250726.1; XP_006716223.1; XP_006716224.1; XP_006716225.1; XP_006716226.1; XP_011514953.1; XP_011514954.1; XP_011514955.1; XP_011514956.1; XP_011514957.1; XP_011514958.1; XP_011514959.1; XP_011514960.1; XP_011514961.1; XP_011514962.1; XP_011514963.1;
Genbank Nucleotide ID NM_001013406.1; NM_004912.3; NM_194454.1; NM_194455.1; NM_194456.1; XM_005250660.2; XM_005250662.2; XM_005250664.2; XM_005250665.2; XM_005250666.2; XM_005250667.2; XM_005250668.2; XM_005250669.2; XM_006716160.2; XM_006716161.2; XM_006716162.2; XM_006716163.2; XM_011516651.1; XM_011516652.1; XM_011516653.1; XM_011516654.1; XM_011516655.1; XM_011516656.1; XM_011516657.1; XM_011516658.1; XM_011516659.1; XM_011516660.1; XM_011516661.1;
Protein Name Krev interaction trapped protein 1
Protein Synonyms/Alias
Gene Name KRIT1
Gene Synonyms/Alias CCM1;
Organism Homo sapiens(Human)
NCBI Taxa ID 9606
Functional Description
(View all)
Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels.
Phosphorylation Sites
dbPAF PTMs: 21 (View all)
PositionPeptidesSourceReferences ( PMIDs )
20AVIRPKNTASLNSREcurated26074081
22IRPKNTASLNSREYRdbPTM 3.0;PhosphoSitePlus;curated20363803; 16381945; 23193290; 22135298; 25627689; 26074081
28ASLNSREYRAKSYEIdbPTM 3.0;PhosphoSitePlus;curated18083107; 16381945; 23193290; 22135298; 22817900
124VKDNTKYTYTPGCPIcurated23836654
125KDNTKYTYTPGCPIFcurated23836654
151ESSTHFATLTARMLIPhosphoSitePlus;curated22135298; 25850435
230EKADTCIYNPLFGSDPhosphoSitePlus;curated22135298; 25627689
252DKVVINPYFGLGAPDPhosphoSitePlus;curated22135298; 25627689
260FGLGAPDYSKIQIPKPhosphoSitePlus;curated22135298; 25627689
261GLGAPDYSKIQIPKQPhosphoSitePlus;curated22135298; 25627689
274KQEKWQRSMSSVTEDcurated23090842; 25849741
276EKWQRSMSSVTEDKEPhosphoSitePlus;curated22135298; 23090842
277KWQRSMSSVTEDKERcurated23090842
279QRSMSSVTEDKERQWcurated23090842
391ITDQQGRSPLNICEEPhosphoSitePlus;curated22135298; 25627689
430RIYRMDGSYRSVELKPhosphoSitePlus22135298
431IYRMDGSYRSVELKHPhosphoSitePlus22135298
605TNRILHEYKNLSTSEdbPTM 3.0;HPRD 9;PhosphoSitePlus;curated20058876; 16381945; 23193290; 18988627; 22135298; 22817900
659NHKVIPVYVGVNIKGPhosphoSitePlus22135298
732LNGQLMPTERNS---PhosphoSitePlus;curated22135298; 25627689
Sequence
(Fasta)
MGNPENIEDA YVAVIRPKNT ASLNSREYRA KSYEILLHEV PIEGQKKKRK KVLLETKLQG 60
NSEITQGILD YVVETTKPIS PANQGIRGKR VVLMKKFPLD GEKMGREASL FIVPSVVKDN 120
TKYTYTPGCP IFYCLQDIMR VCSESSTHFA TLTARMLIAL DKWLDERHAQ SHFIPALFRP 180
SPLERIKTNV INPAYATESG QTENSLHMGY SALEIKSKML ALEKADTCIY NPLFGSDLQY 240
TNRVDKVVIN PYFGLGAPDY SKIQIPKQEK WQRSMSSVTE DKERQWVDDF PLHRSACEGD 300
SELLSRLLSE RFSVNQLDSD HWAPIHYACW YGKVEATRIL LEKGKCNPNL LNGQLSSPLH 360
FAAGGGHAEI VQILLNHPET DRHITDQQGR SPLNICEENK QNNWEEAAKL LKEAINKPYE 420
KVRIYRMDGS YRSVELKHGN NTTVQQIMEG MRLSQETQQY FTIWICSENL SLQLKPYHKP 480
LQHVRDWPEI LAELTNLDPQ RETPQLFLRR DVRLPLEVEK QIEDPLAILI LFDEARYNLL 540
KGFYTAPDAK LITLASLLLQ IVYGNYESKK HKQGFLNEEN LKSIVPVTKL KSKAPHWTNR 600
ILHEYKNLST SEGVSKEMHH LQRMFLQNCW EIPTYGAAFF TGQIFTKASP SNHKVIPVYV 660
GVNIKGLHLL NMETKALLIS LKYGCFMWQL GDTDTCFQIH SMENKMSFIV HTKQAGLVVK 720
LLMKLNGQLM PTERNS 737
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0037--Angiogenesis
KW-0040--ANK repeat
KW-0965--Cell junction
KW-1003--Cell membrane
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0206--Cytoskeleton
KW-0225--Disease mutation
KW-0472--Membrane
KW-1185--Reference proteome
KW-0677--Repeat

Interpro

IPR002110--Ankyrin_rpt
IPR020683--Ankyrin_rpt-contain_dom
IPR019749--Band_41_domain
IPR014352--FERM/acyl-CoA-bd_prot_3-hlx
IPR019748--FERM_central
IPR000299--FERM_domain
IPR032022--NUDIX

PROSITE

PS50297--ANK_REP_REGION
PS50088--ANK_REPEAT
PS50057--FERM_3

Pfam

PF12796--Ank_2
PF00373--FERM_M
PF16705--NUDIX_5

Gene Ontology

GO:0005911--C:cell-cell junction
GO:0005737--C:cytoplasm
GO:0005615--C:extracellular space
GO:0005874--C:microtubule
GO:0005886--C:plasma membrane
GO:0030695--F:GTPase regulator activity
GO:0008017--F:microtubule binding
GO:0005546--F:phosphatidylinositol-4,5-bisphosphate binding
GO:0032403--F:protein complex binding
GO:0001525--P:angiogenesis
GO:0045454--P:cell redox homeostasis
GO:0016525--P:negative regulation of angiogenesis
GO:2000352--P:negative regulation of endothelial cell apoptotic process
GO:0010596--P:negative regulation of endothelial cell migration
GO:0001937--P:negative regulation of endothelial cell proliferation
GO:0032092--P:positive regulation of protein binding
GO:0050790--P:regulation of catalytic activity
GO:2000114--P:regulation of establishment of cell polarity
GO:0007264--P:small GTPase mediated signal transduction