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

SCRIB Gene

protein-coding   GIFtS: 61
GCID: GC08M144874

scribbled homolog (Drosophila)

 Explore 19 diseases affiliated with
SCRIB via our new
 Human Malady Compendium 
Biological research products
for SCRIB
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Scribbled Homolog (Drosophila)1 2     Protein Scribble Homolog2
SCRB11 2 3 5     LAP43
KIAA01471 3 5     Scribble3
Vartul1 2     VARTUL3
CRIB12 3     HScrib1
SCRIB12     Protein LAP43

External Ids:    HGNC: 303771   Entrez Gene: 235132   Ensembl: ENSG000001809007   OMIM: 6077335   UniProtKB: Q141603   

Export aliases for SCRIB gene to outside databases

Previous GC identifers: GC08U990087 GC08M145136 GC08M144648 GC08M144979 GC08M144945 GC08M140127


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

Entrez Gene summary for SCRIB:
This gene encodes a protein that was identified as being similar to the Drosophila scribble protein. The mammalian
protein is involved in tumor suppression pathways. As a scaffold protein involved in cell polarization processes, this
protein binds to many other proteins. The encoded protein binds to papillomavirus E6 protein via its PDZ domain and
the C-terminus of E6. Two alternatively spliced transcript variants that encode different protein isoforms have been
found for this gene. (provided by RefSeq, Nov 2011)

UniProtKB/Swiss-Prot: SCRIB_HUMAN, Q14160
Function: Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and
neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in
cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance
during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence
regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicles to
synapses. Functions as an activator of Rac GTPase activity

Gene Wiki entry for SCRIB


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SCRIB gene promoter:
         E2F-4   E2F-3a   E2F-5   FOXF2   HTF   E2F-2   YY1   c-Ets-1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSCRIB promoter sequence
   Search SABiosciences Chromatin IP Primers for SCRIB

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


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M144874:  view genomic region     (about GC identifiers)

Start:
144,873,090 bp from pter      End:
144,897,549 bp from pter
Size:
24,460 bases      Orientation:
minus strand

1 alternative location:
Chr8-,PATCHES 144,859,455-144,883,914     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SCRIB_HUMAN, Q14160 (See protein sequence)
Recommended Name: Protein scribble homolog  
Size: 1630 amino acids; 174885 Da
Subunit: Interacts (via PDZ domains) with VANGL2. Interacts with CTNNB1 and MAPK12 (By similarity). Interacts with
UBE3A and HPV E6. Interacts with PAK1 and PAK2. Interacts with ARHGEF7 and GIT1; interacts directly with ARHGEF7.
Interacts (via PDZ domains) with LPP and TRIP6; the interaction is direct. Interacts (via PDZ domains) with TJP2.
Interacts (via PDZ domains) with APC; may mediate APC targeting to adherens junctions of epithelial cells. Interacts
(via PDZ domains) with TSHR; regulates TSHR trafficking and function. Interacts with MCC. Interacts (via fourth PDZ
domain) with tick-borne encephalitis virus NS5 protein; this interaction inhibits SCRIB and downstream STAT1
phosphorylation, thereby preventing activation of JAK-STAT signaling pathway
Subcellular location: Cell membrane; Peripheral membrane protein. Cell junction, adherens junction. Cytoplasm.
Note=Targeting to cell-cell junctions which is CDH1-dependent is required for the pro-apoptotic activity. Localizes to
neuronal post- and pre-synaptic regions
4 PDB 3D structures from and Proteopedia for SCRIB:
1UJU (3D)        1WHA (3D)        1X5Q (3D)        2W4F (3D)    
Secondary accessions: Q6P496 Q7Z5D1 Q8WWV8 Q96C69 Q96GG1
Alternative splicing: 3 isoforms:  Q14160-1   Q14160-2   Q14160-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SCRIB: NX_Q14160

Post-translational modifications:

  • Ubiquitinated; targeted for UBE3A-dependent multiubiquitination in the presence of high-risk HPV E6 proteins and
  • degraded1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14160

  • SCRIB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_056171.3  NP_874365.3  

    ENSEMBL proteins: 
     ENSP00000349486   ENSP00000322938   ENSP00000431519   ENSP00000366756   ENSP00000433546  

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    Uscn Proteins for SCRIB

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886colocalizes with plasma membrane IDA16611247
    GO:0005911cell-cell junction IDA15649318
    GO:0005913cell-cell adherens junction IDA16965391
    GO:0016323basolateral plasma membrane IEA--
    GO:0031252colocalizes with cell leading edge IDA18716323


    SCRIB for ontologies           About GeneDecksing



    SCRIB Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SCRIB for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR001611 Leu-rich_rpt
     IPR025875 Leu-rich_rpt_4
     IPR001478 PDZ
     IPR003591 Leu-rich_rpt_typical-subtyp

    Graphical View of Domain Structure for InterPro Entry Q14160

    ProtoNet protein and cluster: Q14160

    1 Blocks protein family: IPB001478 PDZ/DHR/GLGF domain

    UniProtKB/Swiss-Prot: SCRIB_HUMAN, Q14160
    Similarity: Belongs to the LAP (LRR and PDZ) protein family
    Similarity: Contains 16 LRR (leucine-rich) repeats
    Similarity: Contains 4 PDZ (DHR) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SCRIB_HUMAN, Q14160
    Function: Scaffold protein involved in different aspects of polarized cells differentiation regulating epithelial and
    neuronal morphogenesis. Most probably functions in the establishment of apico-basal cell polarity. May function in
    cell proliferation regulating progression from G1 to S phase and as a positive regulator of apoptosis for instance
    during acinar morphogenesis of the mammary epithelium. May also function in cell migration and adhesion and hence
    regulate cell invasion through MAPK signaling. May play a role in exocytosis and in the targeting synaptic vesicles to
    synapses. Functions as an activator of Rac GTPase activity

    miRNA
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    hsa-miR-34c-3p hsa-miR-499-3p hsa-let-7a-2* hsa-miR-323b-5p hsa-miR-582-5p hsa-miR-659 hsa-miR-9 hsa-miR-493*
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    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16611247


    SCRIB for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SCRIB:
     Decreased Wnt reporter activit 

    Animal Models:
         Mouse knock-outs for SCRIB: Scribtm1.2Phum Scribtm1.2Geno
         13 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Scrib):
     digestive/alimentary  embryogenesis  endocrine/exocrine gland  growth/size  hearing/vestibular/ear 
     limbs/digits/tail  mortality/aging  nervous system  renal/urinary system  reproductive system 
     respiratory system  tumorigenesis  vision/eye 

    SCRIB for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    2Adhesion
    Adhesion1.00
    3TSH signaling pathway
    TSH signaling pathway1.00
    4Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for SCRIB
        Wnt / Hedgehog / Notch
    Cytoskeletal Signaling
    Adhesion

    1 BioSystems Pathway for SCRIB 
        TSH signaling pathway



    SCRIB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SCRIB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/580 Interacting proteins for SCRIB (Q141601, 2, 3 ENSP000003494864) via UniProtKB, MINT, STRING, and/or I2D (see all 580)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARHGEF7Q141552, 3, ENSP000003648934MINT-62243 MINT-62246 MINT-7210759 MINT-62247 MINT-8114729 MINT-62244 MINT-62254 MINT-62250 MINT-7210792 I2D: score=4 STRING: ENSP00000364893
    MCCP235082, 3, ENSP000003862274MINT-7210634 MINT-7210690 MINT-7210609 MINT-7210820 MINT-7211237 MINT-7211022 MINT-7210883 MINT-7210731 I2D: score=1 STRING: ENSP00000386227
    TRIP6Q156542, 3, ENSP000002004574MINT-62865 MINT-62864 MINT-62863 MINT-62866 I2D: score=2 STRING: ENSP00000200457
    APCP250542, 3, ENSP000002574304MINT-6732435 MINT-6732416 MINT-6732421 MINT-6732428 I2D: score=1 STRING: ENSP00000257430
    MAPK3P273611, 3, ENSP000002630254EBI-357345,EBI-73995 I2D: score=2 STRING: ENSP00000263025
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure IMP--
    GO:0001921positive regulation of receptor recycling IMP15775968
    GO:0008105asymmetric protein localization IEA--
    GO:0008283cell proliferation IDA16965391
    GO:0016080synaptic vesicle targeting IEA--


    SCRIB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SCRIB
    Search CenterWatch for drugs/clinical trials and news about SCRIB 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SCRIB gene (2 alternative transcripts): 
    NM_015356.4  NM_182706.4  

    Unigene Cluster for SCRIB:

    Scribbled homolog (Drosophila)
    Hs.436329  [show with all ESTs]
    Unigene Representative Sequence: NM_182706
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356994(uc003yzo.1) ENST00000320476(uc003yzp.1) ENST00000531163
    ENST00000525051 ENST00000526832(uc003yzn.1) ENST00000377533 ENST00000546337
    ENST00000531942

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    hsa-miR-34c-3p hsa-miR-499-3p hsa-let-7a-2* hsa-miR-323b-5p hsa-miR-582-5p hsa-miR-659 hsa-miR-9 hsa-miR-493*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF240677.1 AF271734.2 AY062238.1 BC009490.2 BC014632.2 BC026045.1 BC036905.1 BC044627.1 
    D63481.3 

    10 DOTS entries:

    DT.312144  DT.95276515  DT.100029345  DT.101984462  DT.100666541  DT.120643232  DT.100029344  DT.91770063 
    DT.95179026  DT.95276517 

    24/218 AceView cDNA sequences (see all 218):

    BQ897964 BC063590 BU155766 BC044627 BU176166 BC009490 BE464734 BP430727 
    BC014632 BU956075 BC036905 BP430224 BU161114 AA962100 BF059264 AI652051 
    AI587515 BQ639024 BM763346 AI591130 AW015755 F27752 BF312996 AI739259 

    GeneLoc Exon Structure

    5/17 Alternative Splicing Database (ASD) splice patterns (SP) for SCRIB (see all 17)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35a · 35b · 35c · 35d ^ 36 ^ 37 ^ 38 ^
    SP1:                                                                                -                                                                           
    SP2:                                                                                -                                                                           
    SP3:                                                                                -                                                                           
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 39 ^ 40a · 40b · 40c
    SP1:                        
    SP2:                        
    SP3:                        
    SP4:                        
    SP5:                        


    ECgene alternative splicing isoforms for SCRIB

    (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

    SCRIB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACCACGCCGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See SCRIB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SCRIB

    SOURCE GeneReport for Unigene cluster: Hs.436329

    UniProtKB/Swiss-Prot: SCRIB_HUMAN, Q14160
    Tissue specificity: Expressed in kidney, skeletal muscles, liver, lung, breast, intestine, placenta and skin mainly in
    epithelial cells (at protein level)

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    (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 animals.

    Orthologs for SCRIB gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SCRIB1 scribbled homolog (Drosophila) 68.05(n)
    69.54(a)
      429470  XM_427026.3  XP_427026.3 
    zebrafish
    (Danio rerio)
    Actinopterygii scrib1 scribbled homolog (Drosophila) 64.23(n)
    64.85(a)
      368473  NM_001007175.1  NP_001007176.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta scrib1 scribbled 55.02(n)
    49.08(a)
      44448  NM_001170276.2  NP_001163747.1 
    worm
    (Caenorhabditis elegans)
    Secernentea let-4131 , 3 Expression: nerve ring, spermathecae,
    uterus, more3
    Protein LET-4131
    45(a)3
    44.55(n)1
    39.97(a)1
      V(7976575-7980226)3
    1791711  NM_001028680.21  NP_001023851.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SCRIB gene
    LRRC72  LRRC22  ERBB2IP2  MFHAS12  LRRC182  LRRC302  LRRC12  PIDD2  
    LRRIQ42  SHOC22  LRRD12  LRRC10B2  LRRC392  LRRC402  LRRC102  
    18/20 SIMAP similar genes for SCRIB using alignment to 4 protein entries:     SCRIB_HUMAN (see all proteins) (see all similar genes):
    LRRC1    LRRC7    SYNJ2BP    LRRC8B    pp6170    DLG4
    ARHGAP23    TAX1BP3    FRMPD2    MAGI1    MPDZ    LRIG3
    LRRC57    LRRD1    TJP2    DLG2    PDLIM7    LRRC28

    SCRIB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/606 NCBI SNPs in SCRIB are shown (see all 606    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794036241,2
    F,--140126033(+) GGGCAG/AGAAGG 2 -- ds50011Minor allele frequency- A:0.13WA 118
    rs284732031,2
    C,F,H,--140126264(+) AGGGTG/AGTGCT 2 -- ut31 ese36Minor allele frequency- A:0.02NS NA 550
    rs1115250011,2
    --140128575(+) GAGAGC/GGGGGT 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs119931541,2
    C,F,H,--140129755(+) CTCTAA/CGGGGA 2 -- int1 trp315Minor allele frequency- C:0.28NS NA WA 1886
    rs346917211,2
    C,F,--140130821(+) ACCGCG/ATGGCT 2 -- int17Minor allele frequency- A:0.47NA CSA 309
    rs100909121,2
    C,F,A,H,--140131229(+) GGGGGC/GGTCTA 2 -- int15Minor allele frequency- G:0.02NS EA WA 536
    rs588355711,2
    C,--140131474(+) GGACAC/TAGGCA 2 -- int12Minor allele frequency- T:0.36WA 120
    rs1154168701,2
    C,F,--140131491(+) ACCGCC/TCTCAT 2 -- int11Minor allele frequency- T:0.06WA 118
    rs569865831,2
    F,--140131591(+) AAATGG/CTAAGT 2 -- int11Minor allele frequency- C:0.07WA 118
    rs562081101,2
    C,--140131596(+) GTAAGG/TAAGGG 2 -- int10--------

    HapMap Linkage Disequilibrium report for SCRIB (144873090 - 144897549 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SCRIB: --
    Human Gene Mutation Database (HGMD): SCRIB

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SCRIB for disorders           About GeneDecksing

    OMIM gene information: 607733    OMIM disorders: --

    UniProtKB/Swiss-Prot: SCRIB_HUMAN, Q14160
  • Defects in SCRIB are a cause of neural tube defects (NTD) [MIM:182940]. NTD are congenital malformations of
  • the central nervous system and adjacent structures related to defective neural tube closure during the first trimester
    of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include
    anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal
    region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components

    19 diseases for SCRIB:    About MalaCards
    tick-borne encephalitis    human t-cell leukemia virus type 1    scrub typhus    adenomatous polyposis coli
    avian influenza    typhus    strabismus    encephalitis
    polyposis    t-cell leukemia    influenza    endometrial cancer
    leukemia    breast cancer    prostatitis    neuronitis
    carcinoma    craniorachischisis    neural tube defect

    1 Novoseek disease relationship for SCRIB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 4 16137684 (2), 15649318 (2), 17509663 (1)

    Human Genome Epidemiology (HuGE) Navigator: SCRIB (1 document)

    Export disorders for SCRIB 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 SCRIB gene, integrated from 9 sources (see all 70):
    (articles sorted by number of sources associating them with SCRIB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human scribble (Vartul) is targeted for ubiquitin-mediated degradation by the high-risk papillomavirus E6 proteins and the E6AP ubiquitin-protein ligase. (PubMed id 11027293)1, 2, 3 Nakagawa S. and Huibregtse J.M. (2000)
    2. The tumor suppressor Scrib interacts with the zyxin-related protein LPP, which shuttles between cell adhesion sites and the nucleus. (PubMed id 15649318)1, 2, 9 Petit M.M.R....Van de Ven W.J.M. (2005)
    3. hScrib is a functional homologue of the Drosophila tu mour suppressor Scribble. (PubMed id 14681682)1, 3, 9 Dow L.E....Humbert P.O. (2003)
    4. The tumor suppressor Scrib selectively interacts with specific members of the zyxin family of proteins. (PubMed id 16137684)1, 2, 9 Petit M.M.R....Van de Ven W.J.M. (2005)
    5. Thyrotropin receptor trafficking relies on the hScrib-betaPIX-GIT1- ARF6 pathway. (PubMed id 15775968)1, 2, 9 Lahuna O.... Misrahi M. (2005)
    6. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. (PubMed id 22095531)1, 2 Robinson A.... Stanier P. (2012)
    7. MCC, a new interacting protein for Scrib, is required for cell migration in epithelial cells. (PubMed id 19555689)1, 2 Arnaud C....Lecine P. (2009)
    8. Scrib regulates PAK activity during the cell migration process. (PubMed id 18716323)1, 2 Nola S.... Santoni M.-J. (2008)
    9. Loss of human Scribble cooperates with H-Ras to promote cell invasion through deregulation of MAPK signalling. (PubMed id 18641685)1, 2 Dow L.E....Humbert P.O. (2008)
    10. Tick-borne encephalitis virus NS5 associates with membrane protein scribble and impairs interferon-stimulated JAK-STAT signalling. (PubMed id 18042258)1, 2 Werme K....Johansson M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 23513 HGNC: 30377 AceView: SCRIB Ensembl:ENSG00000180900 euGenes: HUgn23513
    ECgene: SCRIB H-InvDB: SCRIB

    (According to HUGE)
    About This Section
    HUGE: KIAA0147

    (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 SCRIB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SCRIB Genetics and Cytogenetics in Oncology and Haematology

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

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



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