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UniProtKB - O00522 (KRIT1_HUMAN)

Entry version 198 (23 Feb 2022)
Sequence version 2 (11 Oct 2005)
Previous versions | rss
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Protein

Krev interaction trapped protein 1

Gene

KRIT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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. May play a role in the regulation of macroautophagy through the down-regulation of the mTOR pathway (PubMed:26417067).

By similarity8 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAngiogenesis

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O00522

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O00522

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Krev interaction trapped protein 1
Short name:
Krev interaction trapped 1
Alternative name(s):
Cerebral cavernous malformations 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:KRIT1
Synonyms:CCM1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1573, KRIT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604214, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O00522

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000001631

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cell junction, Cell membrane, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Cerebral cavernous malformations 1 (CCM1)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_02357397F → S in CCM1. 1 Publication1
Natural variantiVAR_023574569K → E in CCM1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi47 – 50KKRK → AAAA: Reduces interaction with microtubules, but not with ITGB1BP1. 1 Publication4
Mutagenesisi176A → D: Strongly reduces ITGB1BP1 binding; when associated with D-182. 1 Publication1
Mutagenesisi179R → A: Strongly reduces ITGB1BP1 binding; when associated with A-179. 1 Publication1
Mutagenesisi182P → D: Strongly reduces ITGB1BP1 binding; when associated with D-176. 1 Publication1
Mutagenesisi185R → A: Strongly reduces ITGB1BP1 binding; when associated with A-179. 1 Publication1
Mutagenesisi192 – 195NPAY → APAA: Reduces interaction with ITGB1BP1. 1 Publication4
Mutagenesisi192N → A: Reduces ITGB1BP1 binding; when associated with A-195. 3 Publications1
Mutagenesisi195Y → A: Reduces ITGB1BP1 binding; when associated with A-192. 3 Publications1
Mutagenesisi430S → E: Impairs interaction with RAP1B. 1 Publication1
Mutagenesisi432R → E: Impairs interaction with RAP1B. 1 Publication1
Mutagenesisi452R → E: 40-fold-reduced affinity for Rap1A. 2 Publications1
Mutagenesisi452R → E: Impairs interaction with RAP1B. 2 Publications1
Mutagenesisi717L → A: Strongly reduced affinity for HEG1; when associated with A-721. 1 Publication1
Mutagenesisi721L → A: Strongly reduced affinity for HEG1; when associated with A-717. 1 Publication1

Keywords - Diseasei

Disease variant

Organism-specific databases

DisGeNET

More...DisGeNETi		889

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		KRIT1

MalaCards human disease database

More...MalaCardsi		KRIT1
MIMi116860, phenotype

Open Targets

More...OpenTargetsi		ENSG00000001631

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		221061, Familial cerebral cavernous malformation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA26144

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O00522, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		KRIT1

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000670231 – 736Krev interaction trapped protein 1Add BLAST736

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		O00522

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		O00522

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O00522

MaxQB - The MaxQuant DataBase

More...MaxQBi		O00522

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O00522

PeptideAtlas

More...PeptideAtlasi		O00522

PRoteomics IDEntifications database

More...PRIDEi		O00522

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		47953 [O00522-1]
47954 [O00522-2]
47955 [O00522-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O00522

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		O00522

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Low levels in brain. Very weak expression found in heart and muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000001631, Expressed in calcaneal tendon and 121 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O00522, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O00522, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000001631, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with CDH5 (PubMed:20332120).

Found in a complex, at least composed of ITGB1BP1, KRIT1 and RAP1A.

Interacts (via C-terminus FERM domain) with RAP1A (active GTP-bound form preferentially); the interaction does not induce the opening conformation of KRIT1.

Interacts (via FERM domain) with RAP1B.

Interacts (via N-terminus NPXY motif) with ITGB1BP1; the interaction induces the opening conformation of KRIT1 and competes with ITGB1 for ITGB1BP1 interaction.

Interacts with HEG1 and CCM2; greatly facilitates CCM2-binding to HEG1. Associates (via N-terminus and C-terminus regions) with microtubules; the interaction is inhibited in presence of ITGB1BP1 and active GTP-bound RAP1A.

9 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107330, 28 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-983, ICAP1-KRIT1 integrin activation complex
CPX-984, CCM endothelial permeability complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		O00522

Database of interacting proteins

More...DIPi		DIP-40610N

Protein interaction database and analysis system

More...IntActi		O00522, 10 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000378015

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O00522, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1736
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		O00522

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati287 – 316ANK 1Sequence analysisAdd BLAST30
Repeati320 – 350ANK 2Sequence analysisAdd BLAST31
Repeati354 – 383ANK 3Sequence analysisAdd BLAST30
Repeati388 – 419ANK 4Sequence analysisAdd BLAST32
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini420 – 734FERMPROSITE-ProRule annotationAdd BLAST315

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 170N-terminal domain similar to Nudix hydrolase domainAdd BLAST170
Regioni172 – 195Interaction with ITGB1BP1Add BLAST24
Regioni430 – 452Interaction with RAP1B1 PublicationAdd BLAST23

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The FERM domain mediates binding to RAP1A and RAP1B and is necessary for binding to phosphatidylinositol 4,5-bisphosphate (PIP2).1 Publication
The N-terminal domain has structural similarity to the nudix hydrolase domain, despite the absence of a nudix box and low sequence similarity with nudix hydrolase domains. The N-terminus and the C-terminus part associate together via the NPAY binding motif and adopt a lose conformation that is disrupted by ITGB1BP1, but not by RAP1A.1 Publication
Contains 4 ANK repeats that precede the FERM domain.1 Publication

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4335, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063721

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_022188_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O00522

Identification of Orthologs from Complete Genome Data

More...OMAi		CIRHMSH

Database of Orthologous Groups

More...OrthoDBi		839317at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O00522

TreeFam database of animal gene trees

More...TreeFami		TF317921

Family and domain databases

Conserved Domains Database

More...CDDi		cd14473, FERM_B-lobe, 1 hit
cd13197, FERM_C_CCM1, 1 hit

Database of protein disorder

More...DisProti		DP01333

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.80.10, 1 hit
1.25.40.20, 1 hit
2.30.29.30, 1 hit
3.30.70.2240, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR002110, Ankyrin_rpt
IPR036770, Ankyrin_rpt-contain_sf
IPR019749, Band_41_domain
IPR014352, FERM/acyl-CoA-bd_prot_sf
IPR035963, FERM_2
IPR019748, FERM_central
IPR000299, FERM_domain
IPR041791, KRIT1_FERM_C
IPR032022, NUDIX
IPR043058, NUDIX_sf
IPR011993, PH-like_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13857, Ank_5, 1 hit
PF00373, FERM_M, 1 hit
PF16705, NUDIX_5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00248, ANK, 3 hits
SM00295, B41, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47031, SSF47031, 1 hit
SSF48403, SSF48403, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit
PS50088, ANK_REPEAT, 1 hit
PS50057, FERM_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O00522-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MGNPENIEDA YVAVIRPKNT ASLNSREYRA KSYEILLHEV PIEGQKKKRK 
        60         70         80         90        100
KVLLETKLQG NSEITQGILD YVVETTKPIS PANQGIRGKR VVLMKKFPLD 
       110        120        130        140        150
GEKMGREASL FIVPSVVKDN TKYTYTPGCP IFYCLQDIMR VCSESSTHFA 
       160        170        180        190        200
TLTARMLIAL DKWLDERHAQ SHFIPALFRP SPLERIKTNV INPAYATESG 
       210        220        230        240        250
QTENSLHMGY SALEIKSKML ALEKADTCIY NPLFGSDLQY TNRVDKVVIN 
       260        270        280        290        300
PYFGLGAPDY SKIQIPKQEK WQRSMSSVTE DKERQWVDDF PLHRSACEGD 
       310        320        330        340        350
SELLSRLLSE RFSVNQLDSD HWAPIHYACW YGKVEATRIL LEKGKCNPNL 
       360        370        380        390        400
LNGQLSSPLH FAAGGGHAEI VQILLNHPET DRHITDQQGR SPLNICEENK 
       410        420        430        440        450
QNNWEEAAKL LKEAINKPYE KVRIYRMDGS YRSVELKHGN NTTVQQIMEG 
       460        470        480        490        500
MRLSQETQQY FTIWICSENL SLQLKPYHKP LQHVRDWPEI LAELTNLDPQ 
       510        520        530        540        550
RETPQLFLRR DVRLPLEVEK QIEDPLAILI LFDEARYNLL KGFYTAPDAK 
       560        570        580        590        600
LITLASLLLQ IVYGNYESKK HKQGFLNEEN LKSIVPVTKL KSKAPHWTNR 
       610        620        630        640        650
ILHEYKNLST SEGVSKEMHH LQRMFLQNCW EIPTYGAAFF TGQIFTKASP 
       660        670        680        690        700
SNHKVIPVYV GVNIKGLHLL NMETKALLIS LKYGCFMWQL GDTDTCFQIH 
       710        720        730 
SMENKMSFIV HTKQAGLVVK LLMKLNGQLM PTERNS
Length:736
Mass (Da):84,348
Last modified:October 11, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD11F75ED629E85AC
GO
Isoform 2 (identifier: O00522-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Show »
Length:529
Mass (Da):60,945
Checksum:iD56082828EEB7094
GO
Isoform 3 (identifier: O00522-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     283-330: Missing.

Show »
Length:688
Mass (Da):78,650
Checksum:iE62A1A28360F87F1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9JIY2C9JIY2_HUMAN
Krev interaction trapped protein 1
KRIT1
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J3W7C9J3W7_HUMAN
Krev interaction trapped protein 1
KRIT1
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9J718C9J718_HUMAN
Krev interaction trapped protein 1
KRIT1
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JF32C9JF32_HUMAN
Krev interaction trapped protein 1
KRIT1
184Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JBN7C9JBN7_HUMAN
Krev interaction trapped protein 1
KRIT1
97Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JD81C9JD81_HUMAN
Krev interaction trapped protein 1
KRIT1
65Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JEW7C9JEW7_HUMAN
Krev interaction trapped protein 1
KRIT1
112Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JJM9C9JJM9_HUMAN
Krev interaction trapped protein 1
KRIT1
58Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JSG7C9JSG7_HUMAN
Krev interaction trapped protein 1
KRIT1
38Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JI47C9JI47_HUMAN
Krev interaction trapped protein 1
KRIT1
25Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti138I → T in AAQ94072 (Ref. 5) Curated1
Sequence conflicti234F → G in AAB58582 (PubMed:9285558).Curated1
Sequence conflicti731P → A in AAB58582 (PubMed:9285558).Curated1
Sequence conflicti731P → A in AAG47774 (PubMed:11161791).Curated1
Sequence conflicti731P → A in AAQ94072 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02357397F → S in CCM1. 1 Publication1
Natural variantiVAR_023574569K → E in CCM1. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0158001 – 207Missing in isoform 2. 1 PublicationAdd BLAST207
Alternative sequenceiVSP_043327283 – 330Missing in isoform 3. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
U90268 mRNA Translation: AAB58582.1
U90269 Genomic DNA Translation: AAC01535.1
AF310133 mRNA Translation: AAG47774.1
AF296765 mRNA Translation: AAG10220.2
AF388384 mRNA Translation: AAM19465.1
AY380057 mRNA Translation: AAQ94072.1
AK055305 mRNA Translation: BAG51497.1
AC000120 Genomic DNA Translation: AAS07420.1
BC094684 mRNA Translation: AAH94684.1
BC098442 mRNA Translation: AAH98442.1
AJ294850 mRNA Translation: CAC17608.1
AY993945 Genomic DNA Translation: AAY25568.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS34679.1 [O00522-3]
CCDS5624.1 [O00522-1]

NCBI Reference Sequences

More...RefSeqi		NP_001013424.1, NM_001013406.1 [O00522-3]
NP_004903.2, NM_004912.3 [O00522-1]
NP_919436.1, NM_194454.1 [O00522-1]
NP_919437.1, NM_194455.1 [O00522-1]
NP_919438.1, NM_194456.1 [O00522-1]
XP_005250717.1, XM_005250660.3
XP_005250719.1, XM_005250662.3
XP_005250722.1, XM_005250665.3
XP_005250723.1, XM_005250666.3
XP_005250724.1, XM_005250667.2
XP_005250725.1, XM_005250668.3
XP_005250726.1, XM_005250669.3
XP_006716224.1, XM_006716161.3
XP_006716225.1, XM_006716162.3
XP_006716226.1, XM_006716163.3
XP_011514953.1, XM_011516651.2
XP_011514955.1, XM_011516653.2
XP_011514956.1, XM_011516654.2
XP_011514957.1, XM_011516655.2
XP_011514958.1, XM_011516656.2
XP_011514959.1, XM_011516657.2
XP_011514960.1, XM_011516658.2
XP_011514961.1, XM_011516659.2
XP_011514962.1, XM_011516660.2
XP_011514963.1, XM_011516661.2
XP_016868244.1, XM_017012755.1
XP_016868245.1, XM_017012756.1
XP_016868246.1, XM_017012757.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000340022; ENSP00000344668; ENSG00000001631
ENST00000394503; ENSP00000378011; ENSG00000001631 [O00522-3]
ENST00000394505; ENSP00000378013; ENSG00000001631
ENST00000394507; ENSP00000378015; ENSG00000001631
ENST00000412043; ENSP00000410909; ENSG00000001631
ENST00000458177; ENSP00000391675; ENSG00000001631

Database of genes from NCBI RefSeq genomes

More...GeneIDi		889

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:889

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000394505.7; ENSP00000378013.2; NM_194454.3; NP_919436.1

UCSC genome browser

More...UCSCi		uc003ulr.2, human [O00522-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U90268 mRNA Translation: AAB58582.1
U90269 Genomic DNA Translation: AAC01535.1
AF310133 mRNA Translation: AAG47774.1
AF296765 mRNA Translation: AAG10220.2
AF388384 mRNA Translation: AAM19465.1
AY380057 mRNA Translation: AAQ94072.1
AK055305 mRNA Translation: BAG51497.1
AC000120 Genomic DNA Translation: AAS07420.1
BC094684 mRNA Translation: AAH94684.1
BC098442 mRNA Translation: AAH98442.1
AJ294850 mRNA Translation: CAC17608.1
AY993945 Genomic DNA Translation: AAY25568.1
CCDSiCCDS34679.1 [O00522-3]
CCDS5624.1 [O00522-1]
RefSeqiNP_001013424.1, NM_001013406.1 [O00522-3]
NP_004903.2, NM_004912.3 [O00522-1]
NP_919436.1, NM_194454.1 [O00522-1]
NP_919437.1, NM_194455.1 [O00522-1]
NP_919438.1, NM_194456.1 [O00522-1]
XP_005250717.1, XM_005250660.3
XP_005250719.1, XM_005250662.3
XP_005250722.1, XM_005250665.3
XP_005250723.1, XM_005250666.3
XP_005250724.1, XM_005250667.2
XP_005250725.1, XM_005250668.3
XP_005250726.1, XM_005250669.3
XP_006716224.1, XM_006716161.3
XP_006716225.1, XM_006716162.3
XP_006716226.1, XM_006716163.3
XP_011514953.1, XM_011516651.2
XP_011514955.1, XM_011516653.2
XP_011514956.1, XM_011516654.2
XP_011514957.1, XM_011516655.2
XP_011514958.1, XM_011516656.2
XP_011514959.1, XM_011516657.2
XP_011514960.1, XM_011516658.2
XP_011514961.1, XM_011516659.2
XP_011514962.1, XM_011516660.2
XP_011514963.1, XM_011516661.2
XP_016868244.1, XM_017012755.1
XP_016868245.1, XM_017012756.1
XP_016868246.1, XM_017012757.1

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3U7DX-ray2.49A/C417-736[»]
4DX8X-ray2.54H/I/J/K1-198[»]
4DXAX-ray1.95B420-736[»]
4HDOX-ray1.67A417-736[»]
4HDQX-ray1.95A417-736[»]
4JIFX-ray1.70B170-198[»]
4TKNX-ray3.00D/E/F225-237[»]
5D68X-ray2.91A/B/C259-736[»]
6OQ3X-ray1.85A417-736[»]
6OQ4X-ray1.75A417-736[»]
6UZKX-ray1.92A417-736[»]
SMRiO00522
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107330, 28 interactors
ComplexPortaliCPX-983, ICAP1-KRIT1 integrin activation complex
CPX-984, CCM endothelial permeability complex
CORUMiO00522
DIPiDIP-40610N
IntActiO00522, 10 interactors
STRINGi9606.ENSP00000378015

PTM databases

iPTMnetiO00522
PhosphoSitePlusiO00522

Genetic variation databases

BioMutaiKRIT1

Proteomic databases

EPDiO00522
jPOSTiO00522
MassIVEiO00522
MaxQBiO00522
PaxDbiO00522
PeptideAtlasiO00522
PRIDEiO00522
ProteomicsDBi47953 [O00522-1]
47954 [O00522-2]
47955 [O00522-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		15587, 205 antibodies from 27 providers

The DNASU plasmid repository

More...DNASUi		889

Genome annotation databases

EnsembliENST00000340022; ENSP00000344668; ENSG00000001631
ENST00000394503; ENSP00000378011; ENSG00000001631 [O00522-3]
ENST00000394505; ENSP00000378013; ENSG00000001631
ENST00000394507; ENSP00000378015; ENSG00000001631
ENST00000412043; ENSP00000410909; ENSG00000001631
ENST00000458177; ENSP00000391675; ENSG00000001631
GeneIDi889
KEGGihsa:889
MANE-SelectiENST00000394505.7; ENSP00000378013.2; NM_194454.3; NP_919436.1
UCSCiuc003ulr.2, human [O00522-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		889
DisGeNETi889

GeneCards: human genes, protein and diseases

More...GeneCardsi		KRIT1
GeneReviewsiKRIT1
HGNCiHGNC:1573, KRIT1
HPAiENSG00000001631, Low tissue specificity
MalaCardsiKRIT1
MIMi116860, phenotype
604214, gene
neXtProtiNX_O00522
OpenTargetsiENSG00000001631
Orphaneti221061, Familial cerebral cavernous malformation
PharmGKBiPA26144
VEuPathDBiHostDB:ENSG00000001631

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4335, Eukaryota
GeneTreeiENSGT00530000063721
HOGENOMiCLU_022188_0_0_1
InParanoidiO00522
OMAiCIRHMSH
OrthoDBi839317at2759
PhylomeDBiO00522
TreeFamiTF317921

Enzyme and pathway databases

PathwayCommonsiO00522
SignaLinkiO00522

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		889, 10 hits in 1055 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		KRIT1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		KRIT1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		889
PharosiO00522, Tbio

Protein Ontology

More...PROi		PR:O00522
RNActiO00522, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000001631, Expressed in calcaneal tendon and 121 other tissues
ExpressionAtlasiO00522, baseline and differential
GenevisibleiO00522, HS

Family and domain databases

CDDicd14473, FERM_B-lobe, 1 hit
cd13197, FERM_C_CCM1, 1 hit
DisProtiDP01333
Gene3Di1.20.80.10, 1 hit
1.25.40.20, 1 hit
2.30.29.30, 1 hit
3.30.70.2240, 2 hits
InterProiView protein in InterPro
IPR002110, Ankyrin_rpt
IPR036770, Ankyrin_rpt-contain_sf
IPR019749, Band_41_domain
IPR014352, FERM/acyl-CoA-bd_prot_sf
IPR035963, FERM_2
IPR019748, FERM_central
IPR000299, FERM_domain
IPR041791, KRIT1_FERM_C
IPR032022, NUDIX
IPR043058, NUDIX_sf
IPR011993, PH-like_dom_sf
PfamiView protein in Pfam
PF13857, Ank_5, 1 hit
PF00373, FERM_M, 1 hit
PF16705, NUDIX_5, 1 hit
SMARTiView protein in SMART
SM00248, ANK, 3 hits
SM00295, B41, 1 hit
SUPFAMiSSF47031, SSF47031, 1 hit
SSF48403, SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297, ANK_REP_REGION, 1 hit
PS50088, ANK_REPEAT, 1 hit
PS50057, FERM_3, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiKRIT1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O00522
Secondary accession number(s): A6NNU0
, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 11, 2005
Last modified: February 23, 2022
This is version 198 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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