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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CTXN1 Gene

protein-coding   GIFtS: 43
GCID: GC19M007989

Cortexin 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cortexin 11 2
CTXN2 3 5
cortexin-12

External Ids:    HGNC: 311081   Entrez Gene: 4042172   Ensembl: ENSG000001785317   OMIM: 6001355   UniProtKB: P606063   

Export aliases for CTXN1 gene to outside databases

Previous GC identifers: GC19U900430 GC19M007896 GC19M007898 GC19M007660


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for CTXN1 Gene: 
CTXN1 (cortexin 1) is a protein-coding gene. Diseases associated with CTXN1 include corneal edema, and mental retardation. An important paralog of this gene is CTXN2.

UniProtKB/Swiss-Prot: CTXN1_HUMAN, P60606
Function: May mediate extracellular or intracellular signaling of cortical neurons during forebrain development
(By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  NT_077812.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CTXN1 gene promoter:
         Pax-5   NRSF form 1   Lmo2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   STAT5A   NRSF form 2   MEF-2A   SRY   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for CTXN1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CTXN1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

CTXN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTXN1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M007989:  view genomic region     (about GC identifiers)

Start:
7,989,372 bp from pter      End:
7,991,051 bp from pter
Size:
1,680 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CTXN1_HUMAN, P60606 (See protein sequence)
Recommended Name: Cortexin-1  
Size: 82 amino acids; 9045 Da
Subcellular location: Membrane; Single-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for CTXN1: NX_P60606

Explore proteomics data for CTXN1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P60606

  • CTXN1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CTXN1 Protein Expression
    REFSEQ proteins: NP_996664.1  
    ENSEMBL proteins: 
     ENSP00000313226  

    Human Recombinant Protein Products for CTXN1: 
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    Cloud-Clone Corp. Proteins for CTXN1 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--
    GO:0031224intrinsic to membrane ----

    CTXN1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR020066 Cortexin

    Graphical View of Domain Structure for InterPro Entry P60606

    ProtoNet protein and cluster: P60606

    UniProtKB/Swiss-Prot: CTXN1_HUMAN, P60606
    Similarity: Belongs to the cortexin family


    CTXN1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CTXN1_HUMAN, P60606
    Function: May mediate extracellular or intracellular signaling of cortical neurons during forebrain development
    (By similarity)

    Phenotypes:
         1 GenomeRNAi human phenotype for CTXN1:

     Decreased nuclei size in G2M 

    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CTXN1

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CTXN1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CTXN1

    1 Novoseek inferred chemical compound relationship for CTXN1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epithalamin 85.7 4 10970020 (2), 9490497 (2)

    Search CenterWatch for drugs/clinical trials and news about CTXN1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CTXN1 gene: 
    NM_206833.3  

    Unigene Cluster for CTXN1:

    Cortexin 1
    Hs.657978  [show with all ESTs]
    Unigene Representative Sequence: BQ278750
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000318978(uc002miy.4)
    miRNA
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    hsa-miR-596 hsa-miR-1321 hsa-miR-124 hsa-miR-506 hsa-miR-518e
    SwitchGear 3'UTR luciferase reporter plasmidCTXN1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTXN1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTXN1

    Additional mRNA sequence: 

    AK098834.1 BC024148.2 BC040420.2 BC062702.1 

    4 DOTS entries:

    DT.70103774  DT.121452012  DT.91651067  DT.310231 

    24/355 AceView cDNA sequences (see all 355):

    CA417810 BM764836 BU633897 BM724653 BM796411 BQ028599 BX280510 AI923270 
    BE408831 BU178320 CR597337 BC033628 CB137057 BU156877 NM_006351 BM750692 
    BM766806 BU507867 CA489444 BM770607 BQ232527 BP351709 CR600181 BQ072969 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CTXN1 expression in normal human tissues (normalized intensities)      CTXN1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CTXN1 Expression
    About this image


    CTXN1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 21 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Neural Crest (Sensory Organs)
             sensory organ/nose/vomeronasal organ   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See CTXN1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTXN1

    SOURCE GeneReport for Unigene cluster: Hs.657978
        SABiosciences Custom PCR Arrays for CTXN1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTXN1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CTXN1 gene from 3/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctxn11 , 5 cortexin 11, 5 93.09(n)1
    96.34(a)1
      8 (1.99 cM)5
    3306951  NM_183315.21  NP_899138.11 
     42576485 
    chicken
    (Gallus gallus)
    Aves CTXN11 cortexin 1 72.36(n)
    73.17(a)
      420051  XM_429729.2  XP_429729.3 
    zebrafish
    (Danio rerio)
    Actinopterygii CTXN16
    cortexin 1
    53(a)
    1 ↔ 1
    2(56644028-56644297)


    ENSEMBL Gene Tree for CTXN1 (if available)
    TreeFam Gene Tree for CTXN1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CTXN1 gene
    CTXN22  CTXN32  
    2 SIMAP similar genes for CTXN1 using alignment to 1 protein entry:     CTXN1_HUMAN:
    CTXN2    CTXN3

    CTXN1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/28 SNPs in CTXN1 are shown (see all 28)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2020971191,2
    --7988951(+) AGGTA-/CGGT  
            
    CGGTC
    1 -- int10--------
    rs1820824421,2
    --7989019(+) GGCTGA/GGTCTC 1 -- int10--------
    rs357561041,2
    C--7989100(+) CCCCC-/CAAAGC 1 -- int12Minor allele frequency- C:0.25NA 4
    rs1162336421,2
    F--7989105(+) CCCCCC/GCCCCC 1 -- int11Minor allele frequency- G:0.05WA 118
    rs1173438281,2
    --7989317(+) CTCACG/AATCCC 1 -- int11Minor allele frequency- A:0.01EA 120
    rs1871913531,2
    --7989410(+) TATCAC/TGTTCG 1 -- ut310--------
    rs2004921461,2
    --7989862(+) GGGGA-/GGGGGC 1 -- ut310--------
    rs794096421,2
    C,F--7989866(+) AGGGGG/ACGGTG 1 -- ut311Minor allele frequency- A:0.03EA 120
    rs1396843591,2
    --7989870(+) GGCGGC/TGCGGG 1 -- ut310--------
    rs1921215661,2
    --7989956(+) ACAGGG/TCGGAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CTXN1 (7989372 - 7991051 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CTXN1:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv3716n71CNV Loss21882294
    nsv910990CNV Loss21882294
    nsv910989CNV Loss21882294
    dgv3715n71CNV Loss21882294
    nsv910993CNV Loss21882294
    nsv833733CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 600135    OMIM disorders: --

    6 diseases for CTXN1:    About MalaCards
    corneal edema    mental retardation    cerebritis    hypertension
    tuberculosis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CTXN1:
    Corneal edema

    CTXN1 for disorders           About GeneDecksing


    Export disorders for CTXN1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CTXN1 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with CTXN1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    3. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    5. Identification of cortexin: a novel, neuron-specific, 82-residue membrane protein enriched in rodent cerebral cortex. (PubMed id 8336151)1 Coulter P.M....Watson J.B. (1993)
    6. [Cortexin effectiveness in circulatory encephalopathy ] (PubMed id 10356917)9 Khavinson V.K.h....ZakutskiA- N.G. (1999)
    7. Purification and mechanism of action of 'cortexi n,' a novel antihypertensive protein hormone from kidney and its role in e ssential hypertension in men. (PubMed id 20409952)9 Chakraborty S....Sinha A.K. (2009)
    8. [Influence of cortexin on memory and attention] (PubMed id 15537099)9 Tsyganov V.N. and BogoslovskiA- M.M. (2004)
    9. Cortexin and combination of nitrite with cortexin dec rease swelling and destruction of cerebellar neurons in hemorrhagic stroke. (PubMed id 19650315)9 Reutov V.P....Chailakhyan L.M. (2009)
    10. [Comparative analysis of efficacy of certain neuroprotectors in ischemic stroke] (PubMed id 18193579)9 Skorokhodov A.P....Sedova A.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 404217 HGNC: 31108 AceView: TIMM44andCTXN1 Ensembl:ENSG00000178531 euGenes: HUgn404217
    ECgene: CTXN1 H-InvDB: CTXN1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CTXN1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CTXN1 gene:
    Search GeneIP for patents involving CTXN1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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