KEGG   Homo sapiens (human): 889
Entry
889               CDS       T01001                                 
Symbol
KRIT1, CAM, CCM1
Name
(RefSeq) KRIT1 ankyrin repeat containing
  KO
K17705  Krev interaction trapped protein 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04015  Rap1 signaling pathway
hsa04520  Adherens junction
Disease
H00534  Cerebral cavernous malformation
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04015 Rap1 signaling pathway
    889 (KRIT1)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04520 Adherens junction
    889 (KRIT1)
SSDB
Motif
Pfam: NUDIX_5 FERM_M Ank_2 KRIT1_FRMD8_FERM_C Ank Ank_5 Ank_4 Ank_KRIT1 Ank_3 RA_3 SNX17-27-31_F1_FERM
Other DBs
NCBI-GeneID: 889
NCBI-ProteinID: NP_004903
OMIM: 604214
HGNC: 1573
Ensembl: ENSG00000001631
UniProt: O00522 A4D1F7
Structure
Position
7:complement(92198969..92246100)
AA seq 736 aa
MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEGQKKKRKKVLLETKLQG
NSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVVKDN
TKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIALDKWLDERHAQSHFIPALFRP
SPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSKMLALEKADTCIYNPLFGSDLQY
TNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMSSVTEDKERQWVDDFPLHRSACEGD
SELLSRLLSERFSVNQLDSDHWAPIHYACWYGKVEATRILLEKGKCNPNLLNGQLSSPLH
FAAGGGHAEIVQILLNHPETDRHITDQQGRSPLNICEENKQNNWEEAAKLLKEAINKPYE
KVRIYRMDGSYRSVELKHGNNTTVQQIMEGMRLSQETQQYFTIWICSENLSLQLKPYHKP
LQHVRDWPEILAELTNLDPQRETPQLFLRRDVRLPLEVEKQIEDPLAILILFDEARYNLL
KGFYTAPDAKLITLASLLLQIVYGNYESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNR
ILHEYKNLSTSEGVSKEMHHLQRMFLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYV
GVNIKGLHLLNMETKALLISLKYGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVK
LLMKLNGQLMPTERNS
NT seq 2211 nt   +upstreamnt  +downstreamnt
atgggaaatccagaaaacatagaagatgcatatgttgctgttattcgtccaaagaatact
gccagtctcaattctcgggaatacagagctaagtcatatgaaattttgttgcatgaagtt
cccattgaaggacagaaaaaaaagagaaagaaagttttattggaaacgaaacttcaaggc
aacagtgaaataacacaaggcatattggattacgtagtagaaaccaccaaaccaatttct
cctgcaaaccagggtatcagaggaaaacgagttgtactaatgaaaaaatttcctctggat
ggagagaagatgggcagagaagcatcattatttattgttccatcagttgtcaaagataat
actaaatacacatataccccaggatgcccaattttttactgcttacaagatattatgcga
gtctgtagtgaatccagtactcattttgctacacttacagcaaggatgttaatagccttg
gataagtggttagatgaacgtcatgcacaatctcactttattccagctttattccgacct
tctcctcttgagcggataaaaactaatgtcataaatcctgcatatgctactgaatcaggt
cagacagaaaactcactacatatgggctatagtgcactagaaataaagagtaaaatgtta
gccctagagaaagcagatacctgtatttacaaccctttgtttggatcagatcttcagtat
acaaatcgggtagataaagtggtaataaatccatactttggtctaggagctccagactac
tcaaaaatccaaatacctaaacaggaaaaatggcagagaagcatgagcagtgtcacagaa
gacaaggaacgacagtgggtagatgattttcctctccaccgaagcgcctgtgaaggagat
tcagaattactaagccgtcttctcagtgaaagattttcagtcaaccagttagatagtgac
cactgggcacccattcattatgcatgctggtatggaaaagttgaggccactcgcatattg
ttagagaaaggaaagtgcaatccaaaccttttaaatggacaacttagttctcctcttcat
tttgctgctggaggaggacatgctgaaatagtacagattctcctaaaccacccagaaacg
gatagacatataacagaccaacaaggaagatctccattaaatatttgtgaagaaaacaaa
caaaacaactgggaagaagctgcaaaattgttgaaggaagcaattaacaaaccatatgaa
aaagttcgaatatacagaatggatgggtcatatcgttctgttgaattgaagcatggaaat
aataccacagtgcagcagataatggaaggaatgcgtctctctcaagaaactcagcaatat
ttcactatatggatttgttcagaaaacctcagccttcaactcaaaccatatcataaaccc
ttgcaacatgttcgtgactggccagaaatacttgctgaattgactaatctggatcctcaa
agggaaacacctcagctttttctaagaagagatgtgagacttcccttggaagttgaaaaa
cagattgaagacccactagctattcttattctctttgatgaagccagatataatttattg
aagggcttttatacagctcctgatgctaagctgataacattggcaagtctgcttttgcaa
atagtctatggaaattatgagagtaaaaaacacaagcaaggtttcctaaatgaagaaaat
ctaaaatccatcgtacctgttaccaaactgaaaagtaaggcacctcactggacaaatcgc
atacttcatgaatacaagaatctcagtacaagtgaaggtgtcagtaaagaaatgcatcac
cttcagcgcatgttcttacagaattgctgggaaattcctacttatggagcagcatttttc
acaggacagatatttacaaaggcaagccccagcaatcataaagtcatccctgtgtatgta
ggagtgaatataaaaggacttcatctcctcaacatggaaactaaggctttactcatcagt
cttaagtatggttgttttatgtggcaattgggagatactgatacttgttttcagatccat
agcatggaaaataaaatgagctttatagtacatacaaaacaggctggtctcgtggtaaaa
ctgttaatgaagctaaatggacagttaatgcccactgaaagaaattcatga

  All links  
Disease (2)   
   OMIM (2)   
Gene (8)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (37)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (34)   
DNA sequence (72)   
   RefSeq(nuc) (34)   
   GenBank (19)   
   EMBL (19)   
3D Structure (14)   
   PDB (14)   
Protein domain (11)   
   Pfam (11)   
All databases (144)   

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