LOCUS       NM_194454               4079 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens KRIT1 ankyrin repeat containing (KRIT1), transcript
            variant 3, mRNA.
ACCESSION   NM_194454
VERSION     NM_194454.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4079)
  AUTHORS   Croft,J., Sandoval,D.F., Cistola,D. and Zhang,J.
  TITLE     Plasma water T2 detects age-stratified differences in
            cardiometabolic health among familial CCM patients with Hispanic
            CCM1 mutation
  JOURNAL   Metab Brain Dis 39 (5), 885-893 (2024)
   PUBMED   38795261
  REMARK    GeneRIF: Plasma water T2 detects age-stratified differences in
            cardiometabolic health among familial CCM patients with Hispanic
            CCM1 mutation.
REFERENCE   2  (bases 1 to 4079)
  AUTHORS   Li,C., Liu,P., Huang,W., Wang,H., Ma,K., Zhuo,L., Kang,Y., He,Q.,
            Lin,Y., Kang,D. and Lin,F.
  TITLE     A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a
            Chinese family with multiple cerebral cavernous malformations
  JOURNAL   Neurogenetics 24 (2), 137-146 (2023)
   PUBMED   36892712
  REMARK    GeneRIF: A novel KRIT1/CCM1 mutation accompanied by a NOTCH3
            mutation in a Chinese family with multiple cerebral cavernous
            malformations.
REFERENCE   3  (bases 1 to 4079)
  AUTHORS   Ricci,C., Cerase,A., Riolo,G., Manasse,G. and Battistini,S.
  TITLE     KRIT1 Gene in Patients with Cerebral Cavernous Malformations:
            Clinical Features and Molecular Characterization of Novel Variants
  JOURNAL   J Mol Neurosci 71 (9), 1876-1883 (2021)
   PUBMED   33651268
  REMARK    GeneRIF: KRIT1 Gene in Patients with Cerebral Cavernous
            Malformations: Clinical Features and Molecular Characterization of
            Novel Variants.
REFERENCE   4  (bases 1 to 4079)
  AUTHORS   He,Q., Ye,A., Ye,W., Liao,X., Qin,G., Xu,Y., Yin,Y., Luo,H., Yi,M.,
            Xian,L., Zhang,S., Qin,X., Zhu,W. and Li,Y.
  TITLE     Cancer-secreted exosomal miR-21-5p induces angiogenesis and
            vascular permeability by targeting KRIT1
  JOURNAL   Cell Death Dis 12 (6), 576 (2021)
   PUBMED   34088891
  REMARK    GeneRIF: Cancer-secreted exosomal miR-21-5p induces angiogenesis
            and vascular permeability by targeting KRIT1.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4079)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 4079)
  AUTHORS   Laberge-le Couteulx,S., Jung,H.H., Labauge,P., Houtteville,J.P.,
            Lescoat,C., Cecillon,M., Marechal,E., Joutel,A., Bach,J.F. and
            Tournier-Lasserve,E.
  TITLE     Truncating mutations in CCM1, encoding KRIT1, cause hereditary
            cavernous angiomas
  JOURNAL   Nat Genet 23 (2), 189-193 (1999)
   PUBMED   10508515
REFERENCE   7  (bases 1 to 4079)
  AUTHORS   Serebriiskii,I., Estojak,J., Sonoda,G., Testa,J.R. and Golemis,E.A.
  TITLE     Association of Krev-1/rap1a with Krit1, a novel ankyrin
            repeat-containing protein encoded by a gene mapping to 7q21-22
  JOURNAL   Oncogene 15 (9), 1043-1049 (1997)
   PUBMED   9285558
REFERENCE   8  (bases 1 to 4079)
  AUTHORS   Marchuk,D.A., Gallione,C.J., Morrison,L.A., Clericuzio,C.L.,
            Hart,B.L., Kosofsky,B.E., Louis,D.N., Gusella,J.F., Davis,L.E. and
            Prenger,V.L.
  TITLE     A locus for cerebral cavernous malformations maps to chromosome 7q
            in two families
  JOURNAL   Genomics 28 (2), 311-314 (1995)
   PUBMED   8530042
REFERENCE   9  (bases 1 to 4079)
  AUTHORS   Gunel,M., Awad,I.A., Anson,J. and Lifton,R.P.
  TITLE     Mapping a gene causing cerebral cavernous malformation to
            7q11.2-q21
  JOURNAL   Proc Natl Acad Sci U S A 92 (14), 6620-6624 (1995)
   PUBMED   7604043
REFERENCE   10 (bases 1 to 4079)
  AUTHORS   Flemming,K.D., Smith,E., Marchuk,D. and Derry,W.B.
  TITLE     Familial Cerebral Cavernous Malformations
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301470
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC000120.1.
            
            On Dec 20, 2019 this sequence version replaced NM_194454.2.
            
            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].
            
            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).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038193.3293575.1, AF310133.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000394505.7/ ENSP00000378013.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-125               AC000120.1         137427-137551       c
            126-395             AC000120.1         136539-136808       c
            396-543             AC000120.1         135639-135786       c
            544-647             AC000120.1         133671-133774       c
            648-807             AC000120.1         132630-132789       c
            808-900             AC000120.1         129304-129396       c
            901-1030            AC000120.1         128050-128179       c
            1031-1274           AC000120.1         127040-127283       c
            1275-1390           AC000120.1         126445-126560       c
            1391-1534           AC000120.1         126086-126229       c
            1535-1691           AC000120.1         118163-118319       c
            1692-1799           AC000120.1         117357-117464       c
            1800-1956           AC000120.1         114459-114615       c
            1957-2108           AC000120.1         113539-113690       c
            2109-2275           AC000120.1         106248-106414       c
            2276-2363           AC000120.1         105529-105616       c
            2364-2570           AC000120.1         104832-105038       c
            2571-2687           AC000120.1         92944-93060         c
            2688-4079           AC000120.1         91050-92441         c
FEATURES             Location/Qualifiers
     source          1..4079
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q21.2"
     gene            1..4079
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /note="KRIT1 ankyrin repeat containing"
                     /db_xref="GeneID:889"
                     /db_xref="HGNC:HGNC:1573"
                     /db_xref="MIM:604214"
     exon            1..125
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            126..395
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            396..543
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            544..647
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             546..2756
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /note="isoform 1 is encoded by transcript variant 3;
                     ankyrin repeat-containing protein Krit1; krev interaction
                     trapped protein 1; krev interaction trapped 1; cerebral
                     cavernous malformations 1 protein"
                     /codon_start=1
                     /product="krev interaction trapped protein 1 isoform 1"
                     /protein_id="NP_919436.1"
                     /db_xref="CCDS:CCDS5624.1"
                     /db_xref="GeneID:889"
                     /db_xref="HGNC:HGNC:1573"
                     /db_xref="MIM:604214"
                     /translation="MGNPENIEDAYVAVIRPKNTASLNSREYRAKSYEILLHEVPIEG
                     QKKKRKKVLLETKLQGNSEITQGILDYVVETTKPISPANQGIRGKRVVLMKKFPLDGE
                     KMGREASLFIVPSVVKDNTKYTYTPGCPIFYCLQDIMRVCSESSTHFATLTARMLIAL
                     DKWLDERHAQSHFIPALFRPSPLERIKTNVINPAYATESGQTENSLHMGYSALEIKSK
                     MLALEKADTCIYNPLFGSDLQYTNRVDKVVINPYFGLGAPDYSKIQIPKQEKWQRSMS
                     SVTEDKERQWVDDFPLHRSACEGDSELLSRLLSERFSVNQLDSDHWAPIHYACWYGKV
                     EATRILLEKGKCNPNLLNGQLSSPLHFAAGGGHAEIVQILLNHPETDRHITDQQGRSP
                     LNICEENKQNNWEEAAKLLKEAINKPYEKVRIYRMDGSYRSVELKHGNNTTVQQIMEG
                     MRLSQETQQYFTIWICSENLSLQLKPYHKPLQHVRDWPEILAELTNLDPQRETPQLFL
                     RRDVRLPLEVEKQIEDPLAILILFDEARYNLLKGFYTAPDAKLITLASLLLQIVYGNY
                     ESKKHKQGFLNEENLKSIVPVTKLKSKAPHWTNRILHEYKNLSTSEGVSKEMHHLQRM
                     FLQNCWEIPTYGAAFFTGQIFTKASPSNHKVIPVYVGVNIKGLHLLNMETKALLISLK
                     YGCFMWQLGDTDTCFQIHSMENKMSFIVHTKQAGLVVKLLMKLNGQLMPTERNS"
     exon            648..807
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            808..900
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            901..1030
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1031..1274
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1275..1390
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1391..1534
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1691
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1692..1799
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1800..1956
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1957..2108
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2109..2275
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2276..2363
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2364..2570
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2571..2687
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            2688..4079
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3455..3460
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /note="hexamer: AAGAAA"
     polyA_site      3478
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /note="major polyA site"
     regulatory      4056..4061
                     /regulatory_class="polyA_signal_sequence"
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
                     /note="hexamer: AATAAA"
     polyA_site      4079
                     /gene="KRIT1"
                     /gene_synonym="CAM; CCM1"
ORIGIN      
        1 atagccacgg taacggcggg gtggaaagct aaggcctttg aagacctggg accccgtagt
       61 ttcgggagag ggtgaggggt gaatggtgct gaggtgcgag gagagggaag gacagtaaag
      121 agcaggtttt tggctttcat cgctttttct acatgttttt agcctcacca gaagtctttc
      181 atctcggtgg tccaactcag gatctcagcc tcattatttt cttacccttc tggagtgcat
      241 atgtgccttt acagtttctg tttgcaaacg ctgtctagca tactaagagg atgttagcaa
      301 acctgttcca tggacactaa atggcagttg tacatctccc ctcatcagtc atagtgacaa
      361 ccagaaatgc cctccatatt ttccagtgat cccagtcttc aatgcgtctg tctcataatt
      421 tgtaaacgtt tattatcttg aagtcattgt taatctgtgg tgaaaagtaa ttgctaaata
      481 gaaattctga gaagaaaaag gcctcatcct tttcacatga tgtaggaagg tctgttgcat
      541 gagcaatggg aaatccagaa aacatagaag atgcatatgt tgctgttatt cgtccaaaga
      601 atactgccag tctcaattct cgggaataca gagctaagtc atatgaaatt ttgttgcatg
      661 aagttcccat tgaaggacag aaaaaaaaga gaaagaaagt tttattggaa acgaaacttc
      721 aaggcaacag tgaaataaca caaggcatat tggattacgt agtagaaacc accaaaccaa
      781 tttctcctgc aaaccagggt atcagaggaa aacgagttgt actaatgaaa aaatttcctc
      841 tggatggaga gaagatgggc agagaagcat cattatttat tgttccatca gttgtcaaag
      901 ataatactaa atacacatat accccaggat gcccaatttt ttactgctta caagatatta
      961 tgcgagtctg tagtgaatcc agtactcatt ttgctacact tacagcaagg atgttaatag
     1021 ccttggataa gtggttagat gaacgtcatg cacaatctca ctttattcca gctttattcc
     1081 gaccttctcc tcttgagcgg ataaaaacta atgtcataaa tcctgcatat gctactgaat
     1141 caggtcagac agaaaactca ctacatatgg gctatagtgc actagaaata aagagtaaaa
     1201 tgttagccct agagaaagca gatacctgta tttacaaccc tttgtttgga tcagatcttc
     1261 agtatacaaa tcgggtagat aaagtggtaa taaatccata ctttggtcta ggagctccag
     1321 actactcaaa aatccaaata cctaaacagg aaaaatggca gagaagcatg agcagtgtca
     1381 cagaagacaa ggaacgacag tgggtagatg attttcctct ccaccgaagc gcctgtgaag
     1441 gagattcaga attactaagc cgtcttctca gtgaaagatt ttcagtcaac cagttagata
     1501 gtgaccactg ggcacccatt cattatgcat gctggtatgg aaaagttgag gccactcgca
     1561 tattgttaga gaaaggaaag tgcaatccaa accttttaaa tggacaactt agttctcctc
     1621 ttcattttgc tgctggagga ggacatgctg aaatagtaca gattctccta aaccacccag
     1681 aaacggatag acatataaca gaccaacaag gaagatctcc attaaatatt tgtgaagaaa
     1741 acaaacaaaa caactgggaa gaagctgcaa aattgttgaa ggaagcaatt aacaaaccat
     1801 atgaaaaagt tcgaatatac agaatggatg ggtcatatcg ttctgttgaa ttgaagcatg
     1861 gaaataatac cacagtgcag cagataatgg aaggaatgcg tctctctcaa gaaactcagc
     1921 aatatttcac tatatggatt tgttcagaaa acctcagcct tcaactcaaa ccatatcata
     1981 aacccttgca acatgttcgt gactggccag aaatacttgc tgaattgact aatctggatc
     2041 ctcaaaggga aacacctcag ctttttctaa gaagagatgt gagacttccc ttggaagttg
     2101 aaaaacagat tgaagaccca ctagctattc ttattctctt tgatgaagcc agatataatt
     2161 tattgaaggg cttttataca gctcctgatg ctaagctgat aacattggca agtctgcttt
     2221 tgcaaatagt ctatggaaat tatgagagta aaaaacacaa gcaaggtttc ctaaatgaag
     2281 aaaatctaaa atccatcgta cctgttacca aactgaaaag taaggcacct cactggacaa
     2341 atcgcatact tcatgaatac aagaatctca gtacaagtga aggtgtcagt aaagaaatgc
     2401 atcaccttca gcgcatgttc ttacagaatt gctgggaaat tcctacttat ggagcagcat
     2461 ttttcacagg acagatattt acaaaggcaa gccccagcaa tcataaagtc atccctgtgt
     2521 atgtaggagt gaatataaaa ggacttcatc tcctcaacat ggaaactaag gctttactca
     2581 tcagtcttaa gtatggttgt tttatgtggc aattgggaga tactgatact tgttttcaga
     2641 tccatagcat ggaaaataaa atgagcttta tagtacatac aaaacaggct ggtctcgtgg
     2701 taaaactgtt aatgaagcta aatggacagt taatgcccac tgaaagaaat tcatgaaaga
     2761 gaagtaactg ttactcaagc caccacattt tgtaatgcag agtttttttt ccgtgaaaga
     2821 tttcttaaaa tattactttt ggccgagcat ggtggctcac ccctgtaatt ccagcacttt
     2881 gggaggctgg ggcaggcgga tcacctgaag tcagagttca agaccagcct ggccaacatg
     2941 gtgaaaccct gtctctacaa aaatacaaaa attagctggg tgtggtggcg ggcgcctata
     3001 atcctagcta ctagggaggc caaggtggga gatcgcttaa acccaggagg tggaggttgt
     3061 agtgagccaa gattgcacca cggcacgcta gcctgggtga cacagcaaga ctccatctca
     3121 aaaaaaaaaa aaaattactt tcaacaaggc atatagtctc ttgtaatata tatgtatact
     3181 attacattgt acagaatctg tacttatgtt tggtgtgtaa tataccaatt agttttatat
     3241 aatatcctca taagctattc taatttttga gagaaacaca aaaagttata gattgatagt
     3301 ctgtataata ttagacaaaa tagtaagctt tataaaaagt tatttttggt aaatggtaag
     3361 gaatttgggg tggaatgtga tgagattaaa atgtagcttt ggtataactt catgtgtatt
     3421 tcaaaatata ctgaacgtca acatgatttg aataaagaaa atgtattttc tacttgaacc
     3481 acataacact gttatttaaa acagttttct gcagtctata aacatttctc aacatttttt
     3541 taaaagtctt agttaaaatg taaatctgat atacagtagt gtttctcaaa gtatagttca
     3601 tgaactcctt gcatcataat tacctagatg cctcttaaaa atgaagattt cagagaccca
     3661 ttctaaacaa gggcattcac tctctggaag tagcatggcc ttgtgaactt aaatttggtt
     3721 ttgttttttc ttttttgctg ttagaataat ttcagaccca ataaggaatt tcgattatta
     3781 aagttgagaa atttcacaaa actgcctggc acacaagcac acacatacat agacacattt
     3841 taagtgataa tctcttgata ttagaagttg catttgttaa atacatgctg tattttttat
     3901 gagttgactt aatagtttat gtatattgac tttgctttgt aggaagtaaa tcaccagata
     3961 tcttattgtt tcatttagga aagtagtgat atagatgaag agccaacttg atgaatgtgc
     4021 tattcataag ctagaaacta cagtttttcc aaactaataa actgatgaat tctaaataa
//
