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Entry version 118 (16 Oct 2019)
Sequence version 1 (03 Apr 2007)
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Protein
Submitted name:

Cerebral cavernous malformations 1

Gene

CCM1

Organism
Homo sapiens (Human)
Status
Unreviewed-Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Submitted name:
Cerebral cavernous malformations 1Imported
Submitted name:
KRIT1, ankyrin repeat containing, isoform CRA_bImported
Submitted name:
cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CCM1Imported
Synonyms:KRIT1Imported
ORF Names:hCG_1812017Imported, tcag7.266Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA26144

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Proteomic databases

PRoteomics IDEntifications database

More...
PRIDEi
A4D1F7

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000001631 Expressed in 97 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
A4D1F7 baseline and differential

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
A4D1F7

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini287 – 395ANK_REP_REGIONInterPro annotationAdd BLAST109
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati354 – 377ANKPROSITE-ProRule annotationAdd BLAST24
Domaini420 – 734FERMInterPro annotationAdd BLAST315

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domaini

ANK repeatPROSITE-ProRule annotation

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG4335 Eukaryota
ENOG410ZV6V LUCA

KEGG Orthology (KO)

More...
KOi
K17705

Identification of Orthologs from Complete Genome Data

More...
OMAi
MKTFPLD

Database of Orthologous Groups

More...
OrthoDBi
839317at2759

Family and domain databases

Conserved Domains Database

More...
CDDi
cd14473 FERM_B-lobe, 1 hit
cd13197 FERM_C_CCM1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.80.10, 1 hit
1.25.40.20, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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
IPR041791 KRIT1_FERM_C
IPR032022 NUDIX
IPR011993 PH-like_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00373 FERM_M, 1 hit
PF16705 NUDIX_5, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 3 hits
SM00295 B41, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47031 SSF47031, 1 hit
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 1 hit
PS50057 FERM_3, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

A4D1F7-1 [UniParc]FASTAAdd to basket
« 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:April 3, 2007 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iD11F75ED629E85AC
GO

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AK056537 mRNA Translation: BAG51741.1
CH236949 Genomic DNA Translation: EAL24152.1
CH471091 Genomic DNA Translation: EAW76855.1

NCBI Reference Sequences

More...
RefSeqi
NP_004903.2, NM_004912.3
NP_919436.1, NM_194454.1
NP_919437.1, NM_194455.1
NP_919438.1, NM_194456.1
XP_005250717.1, XM_005250660.3
XP_005250719.1, XM_005250662.3
XP_005250722.1, XM_005250665.3
XP_005250723.1, XM_005250666.3
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
XP_006716226.1, XM_006716163.3
XP_011514953.1, XM_011516651.2
XP_011514955.1, XM_011516653.2
XP_011514956.1, XM_011516654.2
XP_011514957.1, XM_011516655.2
XP_011514958.1, XM_011516656.2
XP_011514959.1, XM_011516657.2
XP_011514960.1, XM_011516658.2
XP_011514961.1, XM_011516659.2
XP_011514962.1, XM_011516660.2
XP_011514963.1, XM_011516661.2
XP_016868244.1, XM_017012755.1
XP_016868245.1, XM_017012756.1
XP_016868246.1, XM_017012757.1

Genome annotation databases

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
889

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:889

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK056537 mRNA Translation: BAG51741.1
CH236949 Genomic DNA Translation: EAL24152.1
CH471091 Genomic DNA Translation: EAW76855.1
RefSeqiNP_004903.2, NM_004912.3
NP_919436.1, NM_194454.1
NP_919437.1, NM_194455.1
NP_919438.1, NM_194456.1
XP_005250717.1, XM_005250660.3
XP_005250719.1, XM_005250662.3
XP_005250722.1, XM_005250665.3
XP_005250723.1, XM_005250666.3
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
XP_006716226.1, XM_006716163.3
XP_011514953.1, XM_011516651.2
XP_011514955.1, XM_011516653.2
XP_011514956.1, XM_011516654.2
XP_011514957.1, XM_011516655.2
XP_011514958.1, XM_011516656.2
XP_011514959.1, XM_011516657.2
XP_011514960.1, XM_011516658.2
XP_011514961.1, XM_011516659.2
XP_011514962.1, XM_011516660.2
XP_011514963.1, XM_011516661.2
XP_016868244.1, XM_017012755.1
XP_016868245.1, XM_017012756.1
XP_016868246.1, XM_017012757.1

3D structure databases

SMRiA4D1F7
ModBaseiSearch...

Proteomic databases

PRIDEiA4D1F7

Genome annotation databases

GeneIDi889
KEGGihsa:889

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
889
PharmGKBiPA26144

Phylogenomic databases

eggNOGiKOG4335 Eukaryota
ENOG410ZV6V LUCA
KOiK17705
OMAiMKTFPLD
OrthoDBi839317at2759

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
KRIT1 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
889

Gene expression databases

BgeeiENSG00000001631 Expressed in 97 organ(s), highest expression level in corpus callosum
ExpressionAtlasiA4D1F7 baseline and differential

Family and domain databases

CDDicd14473 FERM_B-lobe, 1 hit
cd13197 FERM_C_CCM1, 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
IPR041791 KRIT1_FERM_C
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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiA4D1F7_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: A4D1F7
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/TrEMBL: April 3, 2007
Last sequence update: April 3, 2007
Last modified: October 16, 2019
This is version 118 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiUnreviewed (UniProtKB/TrEMBL)
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.
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