Details for: KRIT1

Gene ID: 889

Symbol: KRIT1

Ensembl ID: ENSG00000001631

Description: KRIT1 ankyrin repeat containing

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 3.66
    Marker Score: 15259.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.85
    Marker Score: 68363
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.77
    Marker Score: 67303.5
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.77
    Marker Score: 35151.5
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.76
    Marker Score: 26311
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.72
    Marker Score: 105671.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.7
    Marker Score: 7057
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.7
    Marker Score: 6563
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.68
    Marker Score: 7774
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.63
    Marker Score: 15366.5
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.63
    Marker Score: 15481.5
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.62
    Marker Score: 12401.5
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.61
    Marker Score: 1852
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.56
    Marker Score: 2240
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.55
    Marker Score: 13330
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.51
    Marker Score: 633
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.5
    Marker Score: 15477.5
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.45
    Marker Score: 2237
  • Cell Name: interneuron (CL0000099)
    Fold Change: 1.44
    Marker Score: 658
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.42
    Marker Score: 2736
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.42
    Marker Score: 5055
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.38
    Marker Score: 773
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.36
    Marker Score: 29030
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.31
    Marker Score: 646
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 1.27
    Marker Score: 28366
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.26
    Marker Score: 1571
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.25
    Marker Score: 1343
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.24
    Marker Score: 392
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.22
    Marker Score: 334
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.22
    Marker Score: 592
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.19
    Marker Score: 40348
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.18
    Marker Score: 1476
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.15
    Marker Score: 608
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.15
    Marker Score: 688
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 1.12
    Marker Score: 419
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.12
    Marker Score: 1066
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.12
    Marker Score: 757
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.1
    Marker Score: 17701
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.09
    Marker Score: 971
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.09
    Marker Score: 1103
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.08
    Marker Score: 6960
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.08
    Marker Score: 3982.5
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.06
    Marker Score: 735
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.05
    Marker Score: 694
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.05
    Marker Score: 18711
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 1.03
    Marker Score: 1107
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 1.03
    Marker Score: 1165
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.03
    Marker Score: 4424.5
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.02
    Marker Score: 378
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.02
    Marker Score: 294
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.02
    Marker Score: 1098
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.01
    Marker Score: 8761
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 1.01
    Marker Score: 7503
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71632
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1
    Marker Score: 11210
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 0.99
    Marker Score: 47859
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.98
    Marker Score: 1185
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30379
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.98
    Marker Score: 2625
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.98
    Marker Score: 1382
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.97
    Marker Score: 543
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.97
    Marker Score: 279
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.96
    Marker Score: 504
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.96
    Marker Score: 519
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.95
    Marker Score: 733
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.95
    Marker Score: 241
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.94
    Marker Score: 3697
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2388
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.93
    Marker Score: 451
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.93
    Marker Score: 280
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 477
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.92
    Marker Score: 1012
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.92
    Marker Score: 792
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 431
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 0.91
    Marker Score: 3782.5
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.91
    Marker Score: 9110
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.91
    Marker Score: 565
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.9
    Marker Score: 4831
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2684
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.89
    Marker Score: 312
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.89
    Marker Score: 5102
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.89
    Marker Score: 1446
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.88
    Marker Score: 933
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.88
    Marker Score: 1780
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.87
    Marker Score: 5687
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5293
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.87
    Marker Score: 208
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.86
    Marker Score: 2968
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.86
    Marker Score: 473
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.86
    Marker Score: 910.5
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.86
    Marker Score: 7521.5
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.86
    Marker Score: 1789
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.85
    Marker Score: 2316
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 306
  • Cell Name: follicular B cell (CL0000843)
    Fold Change: 0.85
    Marker Score: 921
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 0.85
    Marker Score: 194
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.85
    Marker Score: 895
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.84
    Marker Score: 304.5
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.84
    Marker Score: 208
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 0.84
    Marker Score: 1677

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Other Information

**Key characteristics:** * KRIT1 is a transmembrane protein with a molecular weight of approximately 120 kDa. * It is a member of the KRIT family of proteins, which are involved in the regulation of cell migration and angiogenesis. * KRIT1 is expressed in high levels in the developing nervous system, and its expression is upregulated in conditions that promote angiogenesis, such as in response to injury or disease. * KRIT1 has been shown to be a key regulator of angiogenesis by interacting with the Angiopoietin-1 receptor (AP1R) and promoting its signaling pathway. **Pathways and functions:** * KRIT1 is a key regulator of angiogenesis by interacting with the AP1R and promoting the activation of its signaling pathway. * This pathway leads to the phosphorylation of AP1R and the inhibition of its interaction with its antagonist, VEGFR2. * By blocking the VEGFR2 signaling pathway, KRIT1 allows AP1R to interact with VEGFR2 and promote its phosphorylation and activation. * This leads to the inhibition of cell migration and the promotion of endothelial cell survival. **Clinical significance:** * Mutations in KRIT1 have been linked to a number of neurological disorders, including autism spectrum disorder, schizophrenia, and epilepsy. * In one study, mutations in KRIT1 were found to be responsible for the development of autism in mice. * This suggests that KRIT1 is a potential therapeutic target for the treatment of autism. **Additional information:** * KRIT1 is a relatively new protein, and its role in angiogenesis is still being elucidated. * However, it is clear that KRIT1 is a key regulator of angiogenesis, and its dysfunction may contribute to the development of a number of neurological disorders.

Genular Protein ID: 2603428829

Symbol: KRIT1_HUMAN

Name: Krev interaction trapped protein 1

UniProtKB Accession Codes:

O00522 A6NNU0 O43894 Q506L6 Q6U276 Q75N19 Q9H180 Q9H264 Q9HAX5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 2 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 2 DIP 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 12 EPD 1 Ensembl 19 ExpressionAtlas 1 GO 20 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 19 PDBsum 11 PRO 1 PROSITE 3 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 28 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9285558

Title: Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22.

PubMed ID: 9285558

DOI: 10.1038/sj.onc.1201268

PubMed ID: 11161791

Title: Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons.

PubMed ID: 11161791

DOI: 10.1006/geno.2000.6410

PubMed ID: 11161805

Title: Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.

PubMed ID: 11161805

DOI: 10.1006/geno.2000.6426

PubMed ID: 12172908

Title: Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).

PubMed ID: 12172908

DOI: 10.1007/s00401-002-0552-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11342228

Title: Identification of eight novel 5`-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.

PubMed ID: 11342228

DOI: 10.1016/s0167-4781(00)00303-1

PubMed ID: 11741838

Title: Interaction between krit1 and icap1alpha infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation.

PubMed ID: 11741838

DOI: 10.1093/hmg/10.25.2953

PubMed ID: 11854171

Title: KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis.

PubMed ID: 11854171

DOI: 10.1093/hmg/11.4.389

PubMed ID: 17916086

Title: Krit 1 interactions with microtubules and membranes are regulated by Rap1 and integrin cytoplasmic domain associated protein-1.

PubMed ID: 17916086

DOI: 10.1111/j.1742-4658.2007.06068.x

PubMed ID: 20332120

Title: CCM1 regulates vascular-lumen organization by inducing endothelial polarity.

PubMed ID: 20332120

DOI: 10.1242/jcs.059329

PubMed ID: 20668652

Title: KRIT1 regulates the homeostasis of intracellular reactive oxygen species.

PubMed ID: 20668652

DOI: 10.1371/journal.pone.0011786

PubMed ID: 20616044

Title: Cerebral cavernous malformation protein CCM1 inhibits sprouting angiogenesis by activating DELTA-NOTCH signaling.

PubMed ID: 20616044

DOI: 10.1073/pnas.1000132107

PubMed ID: 21633110

Title: A mechanism of Rap1-induced stabilization of endothelial cell--cell junctions.

PubMed ID: 21633110

DOI: 10.1091/mbc.e11-02-0157

PubMed ID: 26417067

Title: Defective autophagy is a key feature of cerebral cavernous malformations.

PubMed ID: 26417067

DOI: 10.15252/emmm.201505316

PubMed ID: 22577140

Title: Structural basis for small G protein effector interaction of Ras-related protein 1 (Rap1) and adaptor protein Krev interaction trapped 1 (KRIT1).

PubMed ID: 22577140

DOI: 10.1074/jbc.m112.361295

PubMed ID: 23007647

Title: Structural basis of the junctional anchorage of the cerebral cavernous malformations complex.

PubMed ID: 23007647

DOI: 10.1083/jcb.201205109

PubMed ID: 23317506

Title: Mechanism for KRIT1 release of ICAP1-mediated suppression of integrin activation.

PubMed ID: 23317506

DOI: 10.1016/j.molcel.2012.12.005

PubMed ID: 26458359

Title: Structural analysis of the KRIT1 ankyrin repeat and FERM domains reveals a conformationally stable ARD-FERM interface.

PubMed ID: 26458359

DOI: 10.1016/j.jsb.2015.10.006

Sequence Information:

  • Length: 736
  • Mass: 84348
  • Checksum: D11F75ED629E85AC
  • Sequence:
    • MGNPENIEDA YVAVIRPKNT ASLNSREYRA KSYEILLHEV PIEGQKKKRK KVLLETKLQG 
NSEITQGILD YVVETTKPIS PANQGIRGKR VVLMKKFPLD GEKMGREASL FIVPSVVKDN 
TKYTYTPGCP IFYCLQDIMR VCSESSTHFA TLTARMLIAL DKWLDERHAQ SHFIPALFRP 
SPLERIKTNV INPAYATESG QTENSLHMGY SALEIKSKML ALEKADTCIY NPLFGSDLQY 
TNRVDKVVIN PYFGLGAPDY SKIQIPKQEK WQRSMSSVTE DKERQWVDDF PLHRSACEGD 
SELLSRLLSE RFSVNQLDSD HWAPIHYACW YGKVEATRIL LEKGKCNPNL LNGQLSSPLH 
FAAGGGHAEI VQILLNHPET DRHITDQQGR SPLNICEENK QNNWEEAAKL LKEAINKPYE 
KVRIYRMDGS YRSVELKHGN NTTVQQIMEG MRLSQETQQY FTIWICSENL SLQLKPYHKP 
LQHVRDWPEI LAELTNLDPQ RETPQLFLRR DVRLPLEVEK QIEDPLAILI LFDEARYNLL 
KGFYTAPDAK LITLASLLLQ IVYGNYESKK HKQGFLNEEN LKSIVPVTKL KSKAPHWTNR 
ILHEYKNLST SEGVSKEMHH LQRMFLQNCW EIPTYGAAFF TGQIFTKASP SNHKVIPVYV 
GVNIKGLHLL NMETKALLIS LKYGCFMWQL GDTDTCFQIH SMENKMSFIV HTKQAGLVVK 
LLMKLNGQLM PTERNS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.