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ALX1 Gene

protein-coding   GIFtS: 52
GCID: GC12P085674

ALX Homeobox 1

(Previous name: cartilage paired-class homeoprotein 1)
(Previous symbol: CART1)
  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)
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Aliases
ALX Homeobox 11 2     HEL232
CART11 2 3 5     ALX Homeobox Protein 12
Cartilage Paired-Class Homeoprotein 11 2     Epididymis Luminal Protein 232
CART-12 3     Cartilage Homeoprotein 13
FND32 5     

External Ids:    HGNC: 14941   Entrez Gene: 80922   Ensembl: ENSG000001803187   OMIM: 6015275   UniProtKB: Q156993   

Export aliases for ALX1 gene to outside databases

Previous GC identifers: GC12P084198 GC12P082731


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALX1 Gene:
The specific function of this gene has yet to be determined in humans; however, in rodents, it is necessary for
survival of the forebrain mesenchyme and may also be involved in development of the cervix. Mutations in the
mouse gene lead to neural tube defects such as acrania and meroanencephaly. (provided by RefSeq, Jul 2008)

GeneCards Summary for ALX1 Gene:
ALX1 (ALX homeobox 1) is a protein-coding gene. Diseases associated with ALX1 include frontonasal dysplasia 3, and frontonasal dysplasia. GO annotations related to this gene include protein heterodimerization activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is PHOX2B.

UniProtKB/Swiss-Prot: ALX1_HUMAN, Q15699
Function: Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the
SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in
chondrocyte differentiation and may also influence cervix development

Gene Wiki entry for ALX1 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000012.12  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALX1 gene promoter:
         STAT5B   TBP   LHX3b/Lhx3b   CUTL1   XBP-1   Arnt   HNF-1A   HNF-1   LHX3a/Lhx3a   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALX1 promoter sequence
   Search Chromatin IP Primers for ALX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALX1


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

Entrez Gene cytogenetic band: 12q21.31   Ensembl cytogenetic band:  12q21.31   HGNC cytogenetic band: 12q21.31

ALX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALX1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P085674:  view genomic region     (about GC identifiers)

Start:
85,673,885 bp from pter      End:
85,695,562 bp from pter
Size:
21,678 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ALX1_HUMAN, Q15699 (See protein sequence)
Recommended Name: ALX homeobox protein 1  
Size: 326 amino acids; 36961 Da
Subunit: Interacts (via homeobox domain) with EP300 (By similarity)
Secondary accessions: Q546C8 Q96FH4

Explore the universe of human proteins at neXtProt for ALX1: NX_Q15699

Explore proteomics data for ALX1 at MOPED

Post-translational modifications: 

  • Acetylated at Lys-131 by EP300, leading to increased interaction with EP300 and enhances transcriptional
    activation activity (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ALX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_008913.2  
    ENSEMBL proteins: 
     ENSP00000315417  

    ALX1 Human Recombinant Protein Products:

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    Novus Biologicals ALX1 Proteins
    Novus Biologicals ALX1 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Abcam antibodies for ALX1
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    LSBio Antibodies in human, mouse, rat for ALX1

    ALX1 Assay Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    4 InterPro protein domains:
     IPR003654 OAR_dom
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q15699

    ProtoNet protein and cluster: Q15699

    1 Blocks protein domain: IPB003654 Paired-like homeodomain protein

    UniProtKB/Swiss-Prot: ALX1_HUMAN, Q15699
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    ALX1 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALX1_HUMAN, Q15699
    Function: Transcriptional activator that acts at a palindromic recognition sequence to enhance the activity of the
    SV40 and TK promoters. Functions as a repressor with the prolactin promoter in vivo. May play a role in
    chondrocyte differentiation and may also influence cervix development

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0003714transcription corepressor activity TAS8756334
    GO:0005515protein binding IPI16189514
    GO:0043565sequence-specific DNA binding IEA--
         
    ALX1 for ontologies           About GeneDecksing


    Phenotypes:
         14 MGI mutant phenotypes (inferred from 1 allele(MGI details for Alx1):
     behavior/neurological  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     hearing/vestibular/ear  homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system 
     normal  respiratory system  skeleton  vision/eye 

    ALX1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Alx1tm1Crm for ALX1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALX1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALX1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALX1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALX1

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for ALX1 (see all 437):
    AADACL4,  ABCC9,  ABCE1,  ACOT9,  ADAM29,  ADAM6,  ADCY2,  AGBL2,  AHCYL2,  AKAP4

    miRNA
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    miRTarBase miRNAs that target ALX1:
    hsa-mir-26b-5p (MIRT029276)

    Block miRNA regulation of human, mouse, rat ALX1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate ALX1:
    hsa-miR-590-5p hsa-miR-320e hsa-miR-501-5p hsa-miR-205* hsa-miR-664 hsa-miR-3692 hsa-miR-646 hsa-miR-21
    SwitchGear 3'UTR luciferase reporter plasmidALX1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ALX1
    Predesigned siRNA for gene silencing in human, mouse, rat ALX1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ALX1

    Clone
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    OriGene clones in human, mouse for ALX1 (see all 6)
    OriGene ORF clones in mouse, rat for ALX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALX1 (NM_006982)
    Sino Biological Human cDNA Clone for ALX1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALX1

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ALX1
    Browse ESI BIO Cell Lines and PureStem Progenitors for ALX1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALX1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ALX1_HUMAN, Q15699: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA9753625
    GO:0005667transcription factor complex IEA--

    ALX1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including ALX1: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALX1

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

    5 Interacting proteins for ALX1 (Q156991, 2, 3 ENSP000003154174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IPO13O948291, 2, 3, ENSP000003614184EBI-750671,EBI-747310 MINT-67873 I2D: score=6 STRING: ENSP00000361418
    ALX4Q9H1613, ENSP000003327444I2D: score=1 STRING: ENSP00000332744
    CREBBPQ927933, ENSP000002623674I2D: score=1 STRING: ENSP00000262367
    EP300Q094723, ENSP000002632534I2D: score=1 STRING: ENSP00000263253
    CHEK2ENSP000003720234STRING: ENSP00000372023
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IDA8756334
    GO:0001502cartilage condensation TAS8756334
    GO:0001843neural tube closure IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0006366transcription from RNA polymerase II promoter TAS8756334

    ALX1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALX1



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALX1 gene: 
    NM_006982.2  

    Unigene Cluster for ALX1:

    ALX homeobox 1
    Hs.41683  [show with all ESTs]
    Unigene Representative Sequence: U31986
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000316824(uc001tae.4)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ALX1 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate ALX1:
    hsa-miR-590-5p hsa-miR-320e hsa-miR-501-5p hsa-miR-205* hsa-miR-664 hsa-miR-3692 hsa-miR-646 hsa-miR-21
    SwitchGear 3'UTR luciferase reporter plasmidALX1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ALX1
    Predesigned siRNA for gene silencing in human, mouse, rat ALX1
    Clone
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    OriGene clones in human, mouse for ALX1 (see all 6)
    OriGene ORF clones in mouse, rat for ALX1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALX1 (NM_006982)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALX1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALX1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ALX1
    OriGene qSTAR qPCR primer pairs in human, mouse for ALX1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALX1
      QuantiTect SYBR Green Assays in human, mouse, rat ALX1
      Search QuantiFast Probe-based Assays in human, mouse, rat ALX1

    Additional mRNA sequence: 

    BC010923.1 U31986.1 

    1 DOTS entry:

    DT.410563 

    21 AceView cDNA sequences:

    BM459110 BC010923 CB159197 AA418118 NM_006982 N20106 U31986 AA425284 
    BQ217398 AA425489 AA476763 AA476766 BM016562 BF666634 BG204483 BE895307 
    AW439142 BF669405 BE958505 BQ432264 BF669718 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALX1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCCAGTCTC
    ALX1 Expression
    About this image


    ALX1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum
     
     Ovary (Reproductive System)
             Oviduct
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     NULL (Uncategorized)
             CD2314-induced embryoid bodies
     
     Bone (Muscoskeletal System)
             Maxillary Process
    ALX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALX1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.41683

    UniProtKB/Swiss-Prot: ALX1_HUMAN, Q15699
    Tissue specificity: Cartilage and cervix tissue

        Pathway & Disease-focused RT2 Profiler PCR Array including ALX1: 
              Homeobox (HOX) Genes in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ALX1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALX1

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ALX1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alx11 , 5 ALX homeobox 11, 5 90.8(n)1
    97.24(a)1
      10 (53.56 cM)5
    2162851  NM_172553.41  NP_766141.11 
     1030078475 
    chicken
    (Gallus gallus)
    Aves ALX11 ALX homeobox 1 84.76(n)
    93.56(a)
      427871  XM_425445.4  XP_425445.3 
    lizard
    (Anolis carolinensis)
    Reptilia ALX16
    ALX homeobox 1
    83(a)
    1 ↔ 1
    5(34785200-34836001)
    African clawed frog
    (Xenopus laevis)
    Amphibia cart1-A2 cartilage paired-class homeoprotein 1 80.39(n)    U15276.1 
    zebrafish
    (Danio rerio)
    Actinopterygii alx11 ALX homeobox 1 69.01(n)
    74.44(a)
      565176  NM_001045074.1  NP_001038539.1 


    ENSEMBL Gene Tree for ALX1 (if available)
    TreeFam Gene Tree for ALX1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALX1 gene
    PHOX2B2  ARX2  RAX2  DRGX2  SHOX22  PRRX12  PHOX2A2  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    4 SIMAP similar genes for ALX1 using alignment to 1 protein entry:     ALX1_HUMAN:
    ALX4    RAX2    ALX3    DUX2

    ALX1 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALX1 (see all 470)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1407685131,2
    --85519406(+) AGGCCA/TCACTG 1 -- us2k10--------
    rs116112741,2
    C,H--85519504(+) GCCAGA/CTGATC 1 -- us2k1 tfbs31Minor allele frequency- C:0.00NA 2
    rs1501478841,2
    --85519546(+) TTAAGC/GCCGAC 1 -- us2k10--------
    rs1386907281,2
    --85519552(+) CCGACC/GCTGCC 1 -- us2k10--------
    rs1417056421,2
    --85519577(+) AAGGAA/GCAGCT 1 -- us2k10--------
    rs1462752531,2
    --85519631(+) CCTGGG/TCAGGT 1 -- us2k10--------
    rs1380812971,2
    --85519894(+) CCTGTA/CTGGCT 1 -- us2k10--------
    rs1408776241,2
    C--85519925(+) GCTTA-/GGGTGC 1 -- us2k10--------
    rs1870585571,2
    --85519943(+) AAATGA/CGATTT 1 -- us2k10--------
    rs775392111,2
    C,F--85519985(+) AGCGCC/AGCGGG 1 -- us2k11Minor allele frequency- A:0.14WA 118

    HapMap Linkage Disequilibrium report for ALX1 (85673885 - 85695562 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALX1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv271489CNV Insertion20981092
    nsv899388CNV Loss21882294
    nsv899392CNV Loss21882294
    dgv1472n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ALX1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALX1
    DNA2.0 Custom Variant and Variant Library Synthesis for ALX1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601527   
    OMIM disorders: 613456  
    UniProtKB/Swiss-Prot: ALX1_HUMAN, Q15699
  • Frontonasal dysplasia 3 (FND3) [MIM:613456]: The term frontonasal dysplasia describes an array of
    abnormalities affecting the eyes, forehead and nose and linked to midfacial dysraphia. The clinical picture is
    highly variable. Major findings include true ocular hypertelorism; broadening of the nasal root; median facial
    cleft affecting the nose and/or upper lip and palate; unilateral or bilateral clefting of the alae nasi; lack of
    formation of the nasal tip; anterior cranium bifidum occultum; a V-shaped or widow's peak frontal hairline.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for ALX1:    
    About MalaCards
    frontonasal dysplasia 3    frontonasal dysplasia    neural tube defects    spina bifida
    microphthalmia    multiple myeloma    myeloma    ovarian cancer


    ALX1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ALX1
    Human Genome Epidemiology (HuGE) Navigator: ALX1 (1 document)

    Export disorders for ALX1 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)
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    PubMed articles for ALX1 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with ALX1)
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    1. Human Cart-1: structural organization, chromosomal localization, and functional analysis of a cartilage-specific homeodomain cDNA. (PubMed id 8756334)1, 2, 3, 9 Gordon D.F....Gutierrez-Hartmann A. (DNA Cell Biol. 1996)
    2. Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia. (PubMed id 20451171)1, 2 Uz E.... Akarsu N.A. (Am. J. Hum. Genet. 2010)
    3. Genes encoding critical transcriptional activators for murine neural tube development and human spina bifida: a case-control study. (PubMed id 20932315)1, 4 Lu W....Zhu H. (BMC Med. Genet. 2010)
    4. 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. (Genome Res. 2004)
    5. Human CART1, a paired-class homeodomain protein, activates transcription through palindromic binding sites. (PubMed id 9753625)1, 2 Cai R.L. (Biochem. Biophys. Res. Commun. 1998)
    6. Presence of a new conserved domain in CART1, a novel member of the tumor necrosis factor receptor-associated protein family, which is expressed in breast carcinoma. (PubMed id 7592751)1, 3 Regnier C.H.... Rio M.-C. (J. Biol. Chem. 1995)
    7. Prenatal folic acid treatment suppresses acrania and meroanencephaly in mice mutant for the Cart1 homeobox gene. (PubMed id 8673125)1, 9 Zhao Q....de Crombrugghe B. (Nat. Genet. 1996)
    8. ALX1 induces snail expression to promote epithelial-to-mesenchymal transition and invasion of ovarian cancer cells. (PubMed id 23288509)1 Yuan H....Senga T. (Cancer Res. 2013)
    9. A prognostic DNA methylation signature for stage I non-small-cell lung cancer. (PubMed id 24081945)1 Sandoval J....Esteller M. (J. Clin. Oncol. 2013)
    10. The steroid receptor RNA activator protein is recruited to promoter regions and acts as a transcriptional repressor. (PubMed id 20398657)1 Chooniedass-Kothari S....Leygue E. (FEBS Lett. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8092 HGNC: 1494 AceView: CART1 Ensembl:ENSG00000180318 euGenes: HUgn8092
    ECgene: ALX1 H-InvDB: ALX1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALX1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALX1 gene:
    Search GeneIP for patents involving ALX1

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



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