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KRIT1 KRIT1, ankyrin repeat containing [ Homo sapiens (human) ]

Gene ID: 889, updated on 29-Jul-2014
Official Symbol
KRIT1provided by HGNC
Official Full Name
KRIT1, ankyrin repeat containingprovided by HGNC
Primary source
HGNC:1573
See related
Ensembl:ENSG00000001631; HPRD:05020; MIM:604214; Vega:OTTHUMG00000131187
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAM; CCM1
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]
See KRIT1 in Epigenomics, MapViewer
Location:
7q21.2
Exon count:
20
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 7 NC_000007.14 (92198969..92246128, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (91828283..91875414, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene cytochrome P450, family 51, subfamily A, polypeptide 1 Neighboring gene leucine-rich repeats and death domain containing 1 Neighboring gene microRNA 1285-1 Neighboring gene ankyrin repeat and IBR domain containing 1 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Hypothetical Network for Drug Addiction, organism-specific biosystem (from WikiPathways)
    Hypothetical Network for Drug Addiction, organism-specific biosystemAdapted from figure 2 in [http://www.ploscompbiol.org/article/info:doi/10.1371/journal.pcbi.0040002 Li et al.].
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
microtubule binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
small GTPase regulator activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
cell redox homeostasis IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of angiogenesis IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of endothelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of endothelial cell migration IMP
Inferred from Mutant Phenotype
more info
 
negative regulation of endothelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
 
positive regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
regulation of catalytic activity TAS
Traceable Author Statement
more info
PubMed 
regulation of establishment of cell polarity IMP
Inferred from Mutant Phenotype
more info
 
small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cell-cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
 
microtubule IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
krev interaction trapped protein 1
Names
krev interaction trapped protein 1
krev interaction trapped 1
ankyrin repeat-containing protein Krit1
cerebral cavernous malformations 1 protein

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012964.1 

    Range
    5001..52132
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001013406.1NP_001013424.1  krev interaction trapped protein 1 isoform 2

    See proteins identical to NP_001013424.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate 5' exon, and lacks 2 exons in the 5' UTR and an in-frame exon in the coding region, as compared to variant 1. The encoded isoform 2 lacks an internal segment, as compared to isoform 1.
    Source sequence(s)
    AC000120, AK055305
    Consensus CDS
    CCDS34679.1
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:373592
    Blast Score: 354
    B41; Band 4.1 homologues
    cd00204
    Location:282363
    Blast Score: 147
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:566687
    Blast Score: 665
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:474592
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:282366
    Blast Score: 148
    Ank_2; Ankyrin repeats (3 copies)
  2. NM_004912.3NP_004903.2  krev interaction trapped protein 1 isoform 1

    See proteins identical to NP_004903.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks the 5' exon but has an alternate segment in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AF296765, AF388384, BQ070587
    Consensus CDS
    CCDS5624.1
    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  3. NM_194454.1NP_919436.1  krev interaction trapped protein 1 isoform 1

    See proteins identical to NP_919436.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks 2 exons but has an alternate exon in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AF296765, AF310133, AF388384, AK055305
    Consensus CDS
    CCDS5624.1
    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  4. NM_194455.1NP_919437.1  krev interaction trapped protein 1 isoform 1

    See proteins identical to NP_919437.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has 2 alternate exons in the 5' UTR, as compared to variant 1. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AF388384
    Consensus CDS
    CCDS5624.1
    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Related
    ENSP00000344668, OTTHUMP00000161833, ENST00000340022, OTTHUMT00000253910
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  5. NM_194456.1NP_919438.1  krev interaction trapped protein 1 isoform 1

    See proteins identical to NP_919438.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) includes 4 exons in the 5' UTR. Variants 1-4 encode the same isoform (1).
    Source sequence(s)
    AF296765, AF388384, AJ294850
    Consensus CDS
    CCDS5624.1
    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Related
    ENSP00000378015, ENST00000394507
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000007.14 

    Range
    92198969..92246128
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716161.1XP_006716224.1  

    See proteins identical to XP_006716224.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  2. XM_006716163.1XP_006716226.1  

    See proteins identical to XP_006716226.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  3. XM_005250665.1XP_005250722.1  

    See proteins identical to XP_005250722.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  4. XM_005250666.1XP_005250723.1  

    See proteins identical to XP_005250723.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  5. XM_005250663.1XP_005250720.1  

    See proteins identical to XP_005250720.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  6. XM_006716162.1XP_006716225.1  

    See proteins identical to XP_006716225.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  7. XM_005250668.1XP_005250725.1  

    See proteins identical to XP_005250725.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  8. XM_005250660.1XP_005250717.1  

    See proteins identical to XP_005250717.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Related
    ENSP00000378013, OTTHUMP00000208803, ENST00000394505, OTTHUMT00000342031
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  9. XM_005250669.1XP_005250726.1  

    See proteins identical to XP_005250726.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  10. XM_005250662.1XP_005250719.1  

    See proteins identical to XP_005250719.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  11. XM_005250664.1XP_005250721.1  

    See proteins identical to XP_005250721.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Related
    ENSP00000378011, OTTHUMP00000208802, ENST00000394503, OTTHUMT00000342030
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  12. XM_005250667.1XP_005250724.1  

    See proteins identical to XP_005250724.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  13. XM_006716160.1XP_006716223.1  

    See proteins identical to XP_006716223.1

    UniProtKB/TrEMBL
    A4D1F7
    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:421640
    Blast Score: 352
    B41; Band 4.1 homologues
    cd00204
    Location:291411
    Blast Score: 243
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:614735
    Blast Score: 666
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:522640
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:292377
    Blast Score: 197
    Ank_2; Ankyrin repeats (3 copies)
  14. XM_006716164.1XP_006716227.1  

    See proteins identical to XP_006716227.1

    UniProtKB/Swiss-Prot
    O00522
    Conserved Domains (5) summary
    smart00295
    Location:373592
    Blast Score: 354
    B41; Band 4.1 homologues
    cd00204
    Location:282363
    Blast Score: 147
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    cd13197
    Location:566687
    Blast Score: 665
    FERM_C_CCM1; Cerebral cavernous malformation 1 FERM domain C-lobe
    pfam00373
    Location:474592
    Blast Score: 249
    FERM_M; FERM central domain
    pfam12796
    Location:282366
    Blast Score: 148
    Ank_2; Ankyrin repeats (3 copies)

Alternate HuRef

Genomic

  1. AC_000139.1 

    Range
    86435945..86483492
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 

    Range
    91758320..91805450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)