KRIT1

GENE INFORMATION

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Gene name

KRIT1 (HGNC Symbol)

Synonyms

CAM, CCM1

Description

KRIT1, ankyrin repeat containing (HGNC Symbol)

Entrez gene summary

This gene encodes a protein containing four ankyrin repeats, a band 4.1/ezrin/radixin/moesin (FERM) domain, and multiple NPXY sequences. The encoded protein is localized in the nucleus and cytoplasm. It binds to integrin cytoplasmic domain-associated protein-1 alpha (ICAP1alpha), and plays a critical role in beta1-integrin-mediated cell proliferation. It associates with junction proteins and RAS-related protein 1A (Rap1A), which requires the encoded protein for maintaining the integrity of endothelial junctions. It is also a microtubule-associated protein and may play a role in microtubule targeting. Mutations in this gene result in cerebral cavernous malformations. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

Chromosome

7

Cytoband

q21.2

Chromosome location (bp)

91828283 - 91875480

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000001631 (version 75.37)

Entrez gene

889

UniProt

O00522 (UniProt - Evidence at protein level)

neXtProt

NX_O00522

Antibodypedia

KRIT1 antibodies
 

PROTEIN VIEW

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 « 
 
KRIT1-001
 
KRIT1-002
 
KRIT1-003
 
KRIT1-004
 
KRIT1-005
 
KRIT1-008
 
KRIT1-009
 
KRIT1-011
 
KRIT1-012
 
KRIT1-013
 
KRIT1-014
 
KRIT1-015
 
KRIT1-016
 
KRIT1-017
 
KRIT1-018
 
KRIT1-020
 
KRIT1-022
 
KRIT1-201
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KRIT1-001 ENSP00000344668
ENST00000340022
O00522
Show all »
Show » Show » 736 84.3 No 0
KRIT1-002 ENSP00000391675
ENST00000458177
O00522
Show all »
Show » Show » 243 27.5 No 0
KRIT1-003 ENSP00000378011
ENST00000394503
O00522
Show all »
Show » Show » 688 78.6 No 0
KRIT1-004 ENSP00000378013
ENST00000394505
O00522
Show all »
Show » Show » 736 84.3 No 0
KRIT1-005 ENSP00000410909
ENST00000412043
O00522
Show all »
Show » Show » 736 84.3 No 0
KRIT1-008 ENSP00000388076
ENST00000444960
C9JXI9
Show all »
Show » Show » 34 3.9 No 0
KRIT1-009 ENSP00000395604
ENST00000422347
C9JI47
Show all »
Show » Show » 25 2.7 No 0
KRIT1-011 ENSP00000410104
ENST00000433016
C9JF32
Show all »
Show » Show » 184 20.9 No 0
KRIT1-012 ENSP00000395346
ENST00000452773
C9JJM9
Show all »
Show » Show » 58 6.7 No 0
KRIT1-013 ENSP00000396352
ENST00000458493
C9JD81
Show all »
Show » Show » 65 7.4 No 0
KRIT1-014 ENSP00000414694
ENST00000425919
C9JSG7
Show all »
Show » Show » 38 4.4 No 0
KRIT1-015 ENSP00000396042
ENST00000440209
C9JEW7
Show all »
Show » Show » 112 12.7 No 0
KRIT1-016 ENSP00000405835
ENST00000454017
C9J718
Show all »
Show » Show » 162 18.3 No 0
KRIT1-017 ENSP00000410467
ENST00000413688
C9J3W7
Show all »
Show » Show » 69 7.9 No 0
KRIT1-018 ENSP00000391540
ENST00000430102
C9JBN7
Show all »
Show » Show » 98 11.1 No 0
KRIT1-020 ENSP00000404790
ENST00000425073
Show » 12 1.4 No 0
KRIT1-022 ENSP00000404084
ENST00000445516
C9JIY2
Show all »
Show » Show » 164 18.7 No 0
KRIT1-201 ENSP00000378015
ENST00000394507
O00522
Show all »
Show » Show » 736 84.3 No 0