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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.By similarity7 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

  • GTPase regulator activity Source: ProtInc
  • microtubule binding Source: UniProtKB
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB
  • protein-containing complex binding Source: UniProtKB

GO - Biological processi

<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

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:ENSG00000001631-MONOMER

<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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_manual">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

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000001631.14

Human Gene Nomenclature Database

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HGNCi
HGNC:1573 KRIT1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604214 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O00522

<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

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

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 mutations 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.
See also OMIM:116860
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_and_biotech_section">'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 mutation

Organism-specific databases

DisGeNET

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DisGeNETi
889

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

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GeneReviewsi
KRIT1

MalaCards human disease database

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MalaCardsi
KRIT1
MIMi116860 phenotype

Open Targets

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OpenTargetsi
ENSG00000001631

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

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Orphaneti
221061 Familial cerebral cavernous malformation

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26144

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000670231 – 736Krev interaction trapped protein 1Add BLAST736

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O00522

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O00522

MaxQB - The MaxQuant DataBase

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MaxQBi
O00522

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

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PaxDbi
O00522

PeptideAtlas

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PeptideAtlasi
O00522

PRoteomics IDEntifications database

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PRIDEi
O00522

ProteomicsDB human proteome resource

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ProteomicsDBi
47953
47954 [O00522-2]
47955 [O00522-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O00522

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

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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

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Bgeei
ENSG00000001631 Expressed in 97 organ(s), highest expression level in corpus callosum

CleanEx database of gene expression profiles

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CleanExi
HS_KRIT1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O00522 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O00522 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA049606

<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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107330, 17 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O00522

Database of interacting proteins

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DIPi
DIP-40610N

Protein interaction database and analysis system

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IntActi
O00522, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000344668

<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

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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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[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O00522

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

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SMRi
O00522

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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_and_domains_section">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

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eggNOGi
KOG4335 Eukaryota
ENOG410ZV6V LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00530000063721

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000252958

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG052292

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O00522

KEGG Orthology (KO)

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KOi
K17705

Identification of Orthologs from Complete Genome Data

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OMAi
EKADMCI

Database of Orthologous Groups

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OrthoDBi
168316at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O00522

TreeFam database of animal gene trees

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TreeFami
TF317921

Family and domain databases

Conserved Domains Database

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CDDi
cd00204 ANK, 1 hit
cd14473 FERM_B-lobe, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.80.10, 1 hit
1.25.40.20, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
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
IPR032022 NUDIX
IPR011993 PH-like_dom_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00373 FERM_M, 1 hit
PF16705 NUDIX_5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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

Superfamily database of structural and functional annotation

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SUPFAMi
SSF47031 SSF47031, 1 hit
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

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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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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 'canonical' 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.

Note: No experimental confirmation available.
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>
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>
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>
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>
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>
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>
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>
A0A0C4DG23A0A0C4DG23_HUMAN
Krev interaction trapped protein 1
KRIT1
243Annotation 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>
C9JXI9C9JXI9_HUMAN
Krev interaction trapped protein 1
KRIT1
34Annotation 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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<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

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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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

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

NCBI Reference Sequences

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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 [O00522-1]
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 [O00522-1]
XP_006716226.1, XM_006716163.3
XP_011514953.1, XM_011516651.2 [O00522-1]
XP_011514955.1, XM_011516653.2
XP_011514956.1, XM_011516654.2 [O00522-1]
XP_011514957.1, XM_011516655.2 [O00522-1]
XP_011514958.1, XM_011516656.2
XP_011514959.1, XM_011516657.2
XP_011514960.1, XM_011516658.2 [O00522-1]
XP_011514961.1, XM_011516659.2 [O00522-1]
XP_011514962.1, XM_011516660.2 [O00522-1]
XP_011514963.1, XM_011516661.2
XP_016868244.1, XM_017012755.1
XP_016868245.1, XM_017012756.1
XP_016868246.1, XM_017012757.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.531987

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000340022; ENSP00000344668; ENSG00000001631 [O00522-1]
ENST00000394503; ENSP00000378011; ENSG00000001631 [O00522-3]
ENST00000394505; ENSP00000378013; ENSG00000001631 [O00522-1]
ENST00000394507; ENSP00000378015; ENSG00000001631 [O00522-1]
ENST00000412043; ENSP00000410909; ENSG00000001631 [O00522-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
889

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:889

UCSC genome browser

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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 [O00522-1]
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 [O00522-1]
XP_006716226.1, XM_006716163.3
XP_011514953.1, XM_011516651.2 [O00522-1]
XP_011514955.1, XM_011516653.2
XP_011514956.1, XM_011516654.2 [O00522-1]
XP_011514957.1, XM_011516655.2 [O00522-1]
XP_011514958.1, XM_011516656.2
XP_011514959.1, XM_011516657.2
XP_011514960.1, XM_011516658.2 [O00522-1]
XP_011514961.1, XM_011516659.2 [O00522-1]
XP_011514962.1, XM_011516660.2 [O00522-1]
XP_011514963.1, XM_011516661.2
XP_016868244.1, XM_017012755.1
XP_016868245.1, XM_017012756.1
XP_016868246.1, XM_017012757.1
UniGeneiHs.531987

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
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[»]
ProteinModelPortaliO00522
SMRiO00522
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107330, 17 interactors
CORUMiO00522
DIPiDIP-40610N
IntActiO00522, 8 interactors
STRINGi9606.ENSP00000344668

PTM databases

iPTMnetiO00522
PhosphoSitePlusiO00522

Polymorphism and mutation databases

BioMutaiKRIT1

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000340022; ENSP00000344668; ENSG00000001631 [O00522-1]
ENST00000394503; ENSP00000378011; ENSG00000001631 [O00522-3]
ENST00000394505; ENSP00000378013; ENSG00000001631 [O00522-1]
ENST00000394507; ENSP00000378015; ENSG00000001631 [O00522-1]
ENST00000412043; ENSP00000410909; ENSG00000001631 [O00522-1]
GeneIDi889
KEGGihsa:889
UCSCiuc003ulr.2 human [O00522-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
889
DisGeNETi889
EuPathDBiHostDB:ENSG00000001631.14

GeneCards: human genes, protein and diseases

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GeneCardsi
KRIT1
GeneReviewsiKRIT1
HGNCiHGNC:1573 KRIT1
HPAiHPA049606
MalaCardsiKRIT1
MIMi116860 phenotype
604214 gene
neXtProtiNX_O00522
OpenTargetsiENSG00000001631
Orphaneti221061 Familial cerebral cavernous malformation
PharmGKBiPA26144

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4335 Eukaryota
ENOG410ZV6V LUCA
GeneTreeiENSGT00530000063721
HOGENOMiHOG000252958
HOVERGENiHBG052292
InParanoidiO00522
KOiK17705
OMAiEKADMCI
OrthoDBi168316at2759
PhylomeDBiO00522
TreeFamiTF317921

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000001631-MONOMER

Miscellaneous databases

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

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ChiTaRSi
KRIT1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
KRIT1

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

More...
GenomeRNAii
889

Protein Ontology

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PROi
PR:O00522

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000001631 Expressed in 97 organ(s), highest expression level in corpus callosum
CleanExiHS_KRIT1
ExpressionAtlasiO00522 baseline and differential
GenevisibleiO00522 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
cd14473 FERM_B-lobe, 1 hit
Gene3Di1.20.80.10, 1 hit
1.25.40.20, 1 hit
2.30.29.30, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
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
IPR032022 NUDIX
IPR011993 PH-like_dom_sf
PfamiView protein in Pfam
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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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_and_isoforms">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: January 16, 2019
This is version 178 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, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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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