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UniProtKB/Swiss-Prot entry O00522


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name KRIT1_HUMAN
Primary accession number O00522
Secondary accession numbers O43894 Q506L6 Q6U276 Q75N19 Q9H180 Q9H264 Q9HAX5
Integrated into Swiss-Prot on April 27, 2001
Sequence was last modified on October 11, 2005 (Sequence version 2)
Annotations were last modified on    June 16, 2009 (Entry version 86)
Name and origin of the protein
Protein name Krev interaction trapped protein 1
Synonyms Krev interaction trapped 1
Cerebral cavernous malformations 1 protein
Gene name
Name: KRIT1
Synonyms: CCM1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, AND INTERACTION WITH RAP1A.
TISSUE=Kidney, and Mammary cancer;
DOI=10.1038/sj.onc.1201268; PubMed=9285558 [NCBI, ExPASy, EBI, Israel, Japan]
Serebriiskii I., Estojak J., Sonoda G., Testa J.R., Golemis E.A.;
"Association of Krev-1/rap1a with Krit1, a novel ankyrin repeat-containing protein encoded by a gene mapping to 7q21-22.";
Oncogene 15:1043-1049(1997).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1006/geno.2000.6410; PubMed=11161791 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang J., Clatterbuck R.E., Rigamonti D., Dietz H.C.;
"Cloning of the murine Krit1 cDNA reveals novel mammalian 5' coding exons.";
Genomics 70:392-395(2000).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND ALTERNATIVE SPLICING.
DOI=10.1006/geno.2000.6426; PubMed=11161805 [NCBI, ExPASy, EBI, Israel, Japan]
Sahoo T., Goenaga-Diaz E., Serebriiskii I.G., Thomas J.W., Kotova E., Cuellar J.G., Peloquin J.M., Golemis E., Beitinjaneh F., Green E.D., Johnson E.W., Marchuk D.A.;
"Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.";
Genomics 71:123-126(2001).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, AND VARIANTS CCM1 SER-97 AND GLU-569.
DOI=10.1007/s00401-002-0552-6; PubMed=12172908 [NCBI, ExPASy, EBI, Israel, Japan]
Kehrer-Sawatzki H., Wilda M., Braun V.M., Richter H.-P., Hameister H.;
"Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).";
Acta Neuropathol. 104:231-240(2002).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Ferrera L., Marini V., Dorcaratto A., Pigatto F., Alberti F., Forni M., Cama A., Viale G., Origone P., Mareni C., Garre' C.;
"Four novel and three known KRIT1 mutations in CCM Italian patients: Characterization at mRNA and protein level.";
Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature01782; PubMed=12853948 [NCBI, ExPASy, EBI, Israel, Japan]
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.;
"The DNA sequence of human chromosome 7.";
Nature 424:157-164(2003).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain, and Uterus;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[8]
NUCLEOTIDE SEQUENCE [MRNA] OF 1-243, AND ALTERNATIVE SPLICING.
DOI=10.1016/S0167-4781(00)00303-1; PubMed=11342228 [NCBI, ExPASy, EBI, Israel, Japan]
Eerola I., McIntyre B., Vikkula M.;
"Identification of eight novel 5`-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.";
Biochim. Biophys. Acta 1517:464-467(2001).
[9]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 244-281.
Marini V., Ferrera L., Dorcaratto A., Forni M., Capra V., Origone P., Mareni C., Garre' C.;
"Six novel and three known KRIT1 mutations in CCM patients: characterization at mRNA level.";
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases.
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U90268; AAB58582.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
U90269; AAC01535.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF310133; AAG47774.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF296765; AAG10220.2; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AF388384; AAM19465.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY380057; AAQ94072.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AC000120; AAS07420.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC094684; AAH94684.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC098442; AAH98442.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AJ294850; CAC17608.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY993945; AAY25568.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
IPI IPI00418142; -.
IPI00651671; -.
RefSeq NP_004903.2; -.
NP_919436.1; -.
NP_919437.1; -.
NP_919438.1; -.
UniGene Hs.531987
3D structure databases
HSSP Q60773; 1AP7. [HSSP ENTRY / PDB]
ModBase O00522.
Protein-protein interaction databases
IntAct O00522; 2.
PTM databases
PhosphoSite O00522; -.
Organism-specific databases
GeneCards GC07M091666; -.
H-InvDB HIX0006839; -.
HGNC HGNC:1573; KRIT1.
GenAtlas KRIT1.
MIM 116860; phenotype. [NCBI / EBI]
604214; gene. [NCBI / EBI]
Orphanet 164; Cerebral cavernous malformations.
PharmGKB PA26144; -.
Gene expression databases
ArrayExpress O00522; -.
Bgee O00522; -.
CleanEx HS_KRIT1; -.
GermOnline ENSG00000001631; Homo sapiens.
Ontologies
GO
GO:0005856; Cellular component: cytoskeleton (inferred from electronic annotation from InterPro).
GO:0016020; Cellular component: membrane (inferred from electronic annotation from UniProtKB-SubCell).
GO:0005515; Molecular function: protein binding (inferred from physical interaction from UniProtKB).
GO:0005083; Molecular function: small GTPase regulator activity (traceable author statement from ProtInc).
GO:0007264; Biological process: small GTPase mediated signal transduction (traceable author statement from ProtInc).
QuickGo view.
Family and domain databases
InterPro IPR002110; ANK.
IPR019749; Band_41_domain.
IPR014352; FERM/acyl-CoA_bd_prot_3-hlx.
IPR019748; FERM_central.
IPR019747; FERM_CS.
IPR000299; FERM_domain.
Graphical view of domain structure.
Gene3D G3DSA:1.20.80.10; ACBP; 1.
G3DSA:1.25.40.20; ANK; 1.
Pfam PF00023; Ank; 3.
PF00373; FERM_M; 1.
Pfam graphical view of domain structure.
SMART SM00248; ANK; 3.
SM00295; B41; 1.
SMART graphical view of domain structure.
PROSITE PS50297; ANK_REP_REGION; 1.
PS50088; ANK_REPEAT; 1.
PS00660; FERM_1; FALSE_NEG.
PS00661; FERM_2; FALSE_NEG.
PS50057; FERM_3; 1.
PROSITE graphical view of domain structure (profiles).
Proteomic databases
PRIDE O00522; -.
Genome annotation databases
Ensembl ENSG00000001631; Homo sapiens. [Contig view]
GeneID 889; -.
Phylogenomic databases
HOVERGEN O00522; -.
OMA O00522; KSKAPHW.
Other
NextBio 3670; -.
SOURCE KRIT1; Homo sapiens.
ProtoNet O00522.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; ANK repeat; Disease mutation; Membrane; Repeat.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   736  736     Krev interaction trapped protein 1. PRO_0000067023
REPEAT   287   316  30     ANK 1. 
REPEAT   320   350  31     ANK 2. 
REPEAT   354   383  30     ANK 3. 
REPEAT   388   419  32     ANK 4. 
DOMAIN   420   734  315     FERM. 
REGION   487   736  250     Required for RAP1A binding. 
VAR_SEQ   1   207        Missing (in isoform 2). VSP_015800
VARIANT   97    97  1     F -> S (in CCM1). VAR_023573 
VARIANT   569   569  1     K -> E (in CCM1). VAR_023574 
CONFLICT   138   138        I -> T (in Ref. 5; AAQ94072). 
CONFLICT   234   234        F -> G (in Ref. 1; AAB58582). 
CONFLICT   731   731        P -> A (in Ref. 1; AAB58582, 2; AAG47774 and 5; AAQ94072). 
Sequence information
Length: 736 AA [This is the length of the unprocessed precursor] Molecular weight: 84348 Da [This is the MW of the unprocessed precursor] CRC64: D11F75ED629E85AC [This is a checksum on the sequence]
        10         20         30         40         50         60 
MGNPENIEDA YVAVIRPKNT ASLNSREYRA KSYEILLHEV PIEGQKKKRK KVLLETKLQG 

        70         80         90        100        110        120 
NSEITQGILD YVVETTKPIS PANQGIRGKR VVLMKKFPLD GEKMGREASL FIVPSVVKDN 

       130        140        150        160        170        180 
TKYTYTPGCP IFYCLQDIMR VCSESSTHFA TLTARMLIAL DKWLDERHAQ SHFIPALFRP 

       190        200        210        220        230        240 
SPLERIKTNV INPAYATESG QTENSLHMGY SALEIKSKML ALEKADTCIY NPLFGSDLQY 

       250        260        270        280        290        300 
TNRVDKVVIN PYFGLGAPDY SKIQIPKQEK WQRSMSSVTE DKERQWVDDF PLHRSACEGD 

       310        320        330        340        350        360 
SELLSRLLSE RFSVNQLDSD HWAPIHYACW YGKVEATRIL LEKGKCNPNL LNGQLSSPLH 

       370        380        390        400        410        420 
FAAGGGHAEI VQILLNHPET DRHITDQQGR SPLNICEENK QNNWEEAAKL LKEAINKPYE 

       430        440        450        460        470        480 
KVRIYRMDGS YRSVELKHGN NTTVQQIMEG MRLSQETQQY FTIWICSENL SLQLKPYHKP 

       490        500        510        520        530        540 
LQHVRDWPEI LAELTNLDPQ RETPQLFLRR DVRLPLEVEK QIEDPLAILI LFDEARYNLL 

       550        560        570        580        590        600 
KGFYTAPDAK LITLASLLLQ IVYGNYESKK HKQGFLNEEN LKSIVPVTKL KSKAPHWTNR 

       610        620        630        640        650        660 
ILHEYKNLST SEGVSKEMHH LQRMFLQNCW EIPTYGAAFF TGQIFTKASP SNHKVIPVYV 

       670        680        690        700        710        720 
GVNIKGLHLL NMETKALLIS LKYGCFMWQL GDTDTCFQIH SMENKMSFIV HTKQAGLVVK 

       730 
LLMKLNGQLM PTERNS 

O00522 in FASTA format

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