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Protein

Krev interaction trapped protein 1

Gene

KRIT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

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

Keywordsi

Biological processAngiogenesis

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000001631-MONOMER

Names & Taxonomyi

Protein namesi
Recommended name:
Krev interaction trapped protein 1
Short name:
Krev interaction trapped 1
Alternative name(s):
Cerebral cavernous malformations 1 protein
Gene namesi
Name:KRIT1
Synonyms:CCM1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000001631.14
HGNCiHGNC:1573 KRIT1
MIMi604214 gene
neXtProtiNX_O00522

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

Pathology & Biotechi

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
Natural variantiVAR_02357397F → S in CCM1. 1 Publication1
Natural variantiVAR_023574569K → E in CCM1. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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

DisGeNETi889
GeneReviewsiKRIT1
MalaCardsiKRIT1
MIMi116860 phenotype
OpenTargetsiENSG00000001631
Orphaneti221061 Familial cerebral cavernous malformation
PharmGKBiPA26144

Polymorphism and mutation databases

BioMutaiKRIT1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000670231 – 736Krev interaction trapped protein 1Add BLAST736

Proteomic databases

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

PTM databases

iPTMnetiO00522
PhosphoSitePlusiO00522

Expressioni

Tissue specificityi

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

Gene expression databases

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

Organism-specific databases

HPAiHPA049606

Interactioni

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

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

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

Structurei

Secondary structure

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

3D structure databases

ProteinModelPortaliO00522
SMRiO00522
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati287 – 316ANK 1Sequence analysisAdd BLAST30
Repeati320 – 350ANK 2Sequence analysisAdd BLAST31
Repeati354 – 383ANK 3Sequence analysisAdd BLAST30
Repeati388 – 419ANK 4Sequence analysisAdd BLAST32
Domaini420 – 734FERMPROSITE-ProRule annotationAdd BLAST315

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 170N-terminal domain similar to Nudix hydrolase domainAdd BLAST170
Regioni172 – 195Interaction with ITGB1BP1Add BLAST24
Regioni430 – 452Interaction with RAP1B1 PublicationAdd BLAST23

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

eggNOGiKOG4335 Eukaryota
ENOG410ZV6V LUCA
GeneTreeiENSGT00530000063721
HOGENOMiHOG000252958
HOVERGENiHBG052292
InParanoidiO00522
KOiK17705
OMAiEKADMCI
OrthoDBiEOG091G0IG7
PhylomeDBiO00522
TreeFamiTF317921

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

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 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
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

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:
C9JF32C9JF32_HUMAN
Krev interaction trapped protein 1
KRIT1
184Annotation score:
C9JJM9C9JJM9_HUMAN
Krev interaction trapped protein 1
KRIT1
58Annotation score:
C9J718C9J718_HUMAN
Krev interaction trapped protein 1
KRIT1
162Annotation score:
C9J3W7C9J3W7_HUMAN
Krev interaction trapped protein 1
KRIT1
69Annotation score:
C9JD81C9JD81_HUMAN
Krev interaction trapped protein 1
KRIT1
65Annotation score:
C9JEW7C9JEW7_HUMAN
Krev interaction trapped protein 1
KRIT1
112Annotation score:
C9JBN7C9JBN7_HUMAN
Krev interaction trapped protein 1
KRIT1
97Annotation score:
A0A0C4DG23A0A0C4DG23_HUMAN
Krev interaction trapped protein 1
KRIT1
243Annotation score:
C9JXI9C9JXI9_HUMAN
Krev interaction trapped protein 1
KRIT1
34Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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:
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

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]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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
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

CTDi889
DisGeNETi889
EuPathDBiHostDB:ENSG00000001631.14
GeneCardsiKRIT1
GeneReviewsiKRIT1
HGNCiHGNC:1573 KRIT1
HPAiHPA049606
MalaCardsiKRIT1
MIMi116860 phenotype
604214 gene
neXtProtiNX_O00522
OpenTargetsiENSG00000001631
Orphaneti221061 Familial cerebral cavernous malformation
PharmGKBiPA26144
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4335 Eukaryota
ENOG410ZV6V LUCA
GeneTreeiENSGT00530000063721
HOGENOMiHOG000252958
HOVERGENiHBG052292
InParanoidiO00522
KOiK17705
OMAiEKADMCI
OrthoDBiEOG091G0IG7
PhylomeDBiO00522
TreeFamiTF317921

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000001631-MONOMER

Miscellaneous databases

ChiTaRSiKRIT1 human
GeneWikiiKRIT1
GenomeRNAii889
PROiPR:O00522
SOURCEiSearch...

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
ProtoNetiSearch...

Entry informationi

Entry nameiKRIT1_HUMAN
AccessioniPrimary (citable) accession number: O00522
Secondary accession number(s): A6NNU0
, O43894, Q506L6, Q6U276, Q75N19, Q9H180, Q9H264, Q9HAX5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 27, 2001
Last sequence update: October 11, 2005
Last modified: November 7, 2018
This is version 177 of the entry and version 2 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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