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AMMECR1 Gene

protein-coding   GIFtS: 54
GCID: GC0XM109437

Alport Syndrome, Mental Retardation, Midface Hypoplasia...

  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
Alport Syndrome, Mental Retardation, Midface Hypoplasia And
Elliptocytosis Chromosomal Region Gene 11 2
AMMERC12
AMME Syndrome Candidate Gene 1 Protein2

External Ids:    HGNC: 4671   Entrez Gene: 99492   Ensembl: ENSG000001019357   OMIM: 3001955   UniProtKB: Q9Y4X03   

Export aliases for AMMECR1 gene to outside databases

Previous GC identifers: GC0XM104744 GC0XM106586 GC0XM107464 GC0XM108205 GC0XM108203 GC0XM109247 GC0XM099058


(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 AMMECR1 Gene:
The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this
gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome,
mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding
different isoforms have been found for this gene. (provided by RefSeq, Jan 2010)

GeneCards Summary for AMMECR1 Gene:
AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1) is a protein-coding gene. Diseases associated with AMMECR1 include alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis, and alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis. An important paralog of this gene is AMMECR1L.




(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_000023.11  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMMECR1 gene promoter:
         STAT5B   Pbx1a   GATA-3   GCNF   AP-4   RelA   Egr-4   FAC1   GCNF-1   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAMMECR1 promoter sequence
   Search Chromatin IP Primers for AMMECR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMMECR1


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

Entrez Gene cytogenetic band: Xq22.3   Ensembl cytogenetic band:  Xq23   HGNC cytogenetic band: Xq22.3

AMMECR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMMECR1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM109437:  view genomic region     (about GC identifiers)

Start:
109,437,414 bp from pter      End:
109,683,461 bp from pter
Size:
246,048 bases      Orientation:
minus 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: AMMR1_HUMAN, Q9Y4X0 (See protein sequence)
Recommended Name: AMME syndrome candidate gene 1 protein  
Size: 333 amino acids; 35463 Da
Secondary accessions: Q5JYV9 Q6P9D8 Q8WX22 Q9UIQ8
Alternative splicing: 4 isoforms:  Q9Y4X0-1   Q9Y4X0-2   Q9Y4X0-3   Q9Y4X0-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AMMECR1: NX_Q9Y4X0

Explore proteomics data for AMMECR1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AMMECR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001020751.1  NP_001165160.1  NP_056180.1  

    ENSEMBL proteins: 
     ENSP00000262844   ENSP00000361129   ENSP00000361127  

    AMMECR1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for AMMECR1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR027485 AMMECR1_N
     IPR023473 AMMECR1
     IPR002733 AMMECR1_domain

    Graphical View of Domain Structure for InterPro Entry Q9Y4X0

    ProtoNet protein and cluster: Q9Y4X0

    UniProtKB/Swiss-Prot: AMMR1_HUMAN, Q9Y4X0
    Similarity: Contains 1 AMMECR1 domain


    AMMECR1 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:
         Genatlas biochemistry entry for AMMECR1:
    highly conserved nuclear protein deleted in the AMME contiguous gene syndrome

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
         
    AMMECR1 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ammecr1):
     endocrine/exocrine gland 

    AMMECR1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AMMECR1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AMMECR1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AMMECR1

    miRNA
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    miRTarBase miRNAs that target AMMECR1:
    hsa-mir-124-3p (MIRT022777), hsa-mir-215-5p (MIRT024255), hsa-mir-375 (MIRT019948), hsa-mir-92a-3p (MIRT049641), hsa-mir-181a-5p (MIRT025165), hsa-let-7a-5p (MIRT004965), hsa-mir-192-5p (MIRT026663), hsa-mir-98-5p (MIRT004949), hsa-mir-10b-3p (MIRT038670)

    Block miRNA regulation of human, mouse, rat AMMECR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AMMECR1 (see all 101):
    hsa-miR-3678-3p hsa-miR-300 hsa-miR-631 hsa-miR-15a hsa-miR-134 hsa-miR-508-5p hsa-miR-3613-3p hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidAMMECR1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat AMMECR1

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMMECR1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMMECR1


    (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 COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    plasma membrane5
    cytosol4
    endoplasmic reticulum1
    extracellular1
    mitochondrion1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    AMMECR1 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMMECR1
    Interactions:

        Search GeneGlobe Interaction Network for AMMECR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for AMMECR1 (Q9Y4X01, 2 ENSP000002628444) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LRP6O755811, 2EBI-8583355,EBI-910915 MINT-8183661 MINT-8183545 MINT-8183643 MINT-8183454 MINT-8183525 MINT-8183678
    AXIN2Q9Y2T12MINT-8183587 MINT-8183606
    GSK3BP498412MINT-8183566 MINT-8183507
    AXIN1O151692MINT-8183476
    CSNK1G1Q9HCP02MINT-8183463
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    AMMECR1 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 AMMECR1 (AMMR1)



    (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 AMMECR1 gene (3 alternative transcripts): 
    NM_001025580.1  NM_001171689.1  NM_015365.2  

    Unigene Cluster for AMMECR1:

    Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
    Hs.656243  [show with all ESTs]
    Unigene Representative Sequence: NM_001171689
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000262844(uc004eoo.3 uc004eop.3 uc004eoq.3) ENST00000372059
    ENST00000372057 ENST00000473662 ENST00000496695
    miRNA
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    Block miRNA regulation of human, mouse, rat AMMECR1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate AMMECR1 (see all 101):
    hsa-miR-3678-3p hsa-miR-300 hsa-miR-631 hsa-miR-15a hsa-miR-134 hsa-miR-508-5p hsa-miR-3613-3p hsa-miR-556-3p
    SwitchGear 3'UTR luciferase reporter plasmidAMMECR1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AMMECR1
    Predesigned siRNA for gene silencing in human, mouse, rat AMMECR1
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    OriGene clones in human, mouse for AMMECR1 (see all 16)
    OriGene ORF clones in mouse, rat for AMMECR1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AMMECR1 (NM_015365)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AMMECR1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AMMECR1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for AMMECR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AMMECR1
      QuantiTect SYBR Green Assays in human, mouse, rat AMMECR1
      QuantiFast Probe-based Assays in human, mouse, rat AMMECR1

    Additional mRNA sequence: 

    AJ007014.1 AJ009817.1 AK001703.1 AK023637.1 AK055321.1 AK091430.1 AK314596.1 AY007113.1 
    BC024762.1 BC037983.1 BC051895.1 BC060813.1 BC065214.1 BX648797.1 

    7 DOTS entries:

    DT.414160  DT.100775746  DT.409779  DT.97779436  DT.95337543  DT.40197073  DT.40299115 

    Selected AceView cDNA sequences (see all 141):

    AJ009817 AW664563 AJ007014 AI804437 BU634513 AA587009 AW071564 AI367410 
    BU754062 BC024762 BC065214 AA633657 CF122286 BU620429 AI457994 BC060813 
    AK055321 BM918382 AW196859 AI625757 CA419002 AW088550 AY007113 BQ025337 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AMMECR1    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b
    SP1:                    -                                       
    SP2:                    -     -                                 
    SP3:                                                            


    ECgene alternative splicing isoforms for AMMECR1

    (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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    AMMECR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGGCTTTA
    AMMECR1 Expression
    About this image

    AMMECR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMMECR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656243
        Custom PCR Arrays for AMMECR1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMMECR1

    (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 eukaryotes.

    Orthologs for AMMECR1 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ammecr11 , 5 Alport syndrome, mental retardation, midface hypoplasia more1, 5 92.81(n)1
    95.44(a)1
      X (63.74 cM)5
    560681  NM_019496.31  NP_062369.11 
     1428511465 
    chicken
    (Gallus gallus)
    Aves AMMECR11 Alport syndrome, mental retardation, midface hypoplasia more 92.54(n)
    97.14(a)
      422343  XM_001234034.3  XP_001234035.3 
    lizard
    (Anolis carolinensis)
    Reptilia AMMECR16
    Alport syndrome, mental retardation, midface hypop...
    82(a)
    1 ↔ 1
    GL343376.1(18693-89333)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.258252 Xenopus laevis transcribed sequence with moderate similarity more 81.71(n)    BQ730780.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc661002 similar to AMMECR1 protein 83.36(n)   393553  BC056704.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG59021 , 3 CG59021 67(a)3
    63.19(n)1
    67.19(a)1
      428391  NM_142944.31  NP_651201.11 
    worm
    (Caenorhabditis elegans)
    Secernentea R166.31 , 3 R166.31 46(a)3
    52.99(n)1
    47.18(a)1
      II(10537834-10539240)3
    1746211  NM_063869.41  NP_496270.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YOR289W)4 Putative protein of unknown function; transcription more   --   15(853357-854112) 854463  NP_014932.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G387101 AT2G38710 55.97(n)
    55.08(a)
      818453  NM_001036432.1  NP_001031509.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05731001 Os10g0573100 58.16(n)
    52.13(a)
      4349471  NM_001072001.1  NP_001065469.1 


    ENSEMBL Gene Tree for AMMECR1 (if available)
    TreeFam Gene Tree for AMMECR1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AMMECR1 gene
    AMMECR1L2  
    1 SIMAP similar gene for AMMECR1 using alignment to 1 protein entry:     AMMR1_HUMAN:
    AMMECR1L

    AMMECR1 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 AMMECR1 (see all 2478)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs286345191,2
    --99305703(+) TCTGTC/GTGTGT 1 -- us2k10--------
    rs1874800291,2
    --99305729(+) TGTGTA/GTGTGT 1 -- us2k10--------
    rs1931877061,2
    --99305791(+) TTTTAA/GATGTT 1 -- us2k10--------
    rs1117573061,2
    C,F--109417061(+) CAGATA/GATTTA 3 -- ds50011Minor allele frequency- G:0.00CSA 1
    rs1909442451,2
    --109417165(+) GCTCCC/TGCCAG 3 -- ds50010--------
    rs1473409221,2
    --109417262(+) AATAAA/TGGCTA 3 -- ds50010--------
    rs1833134141,2
    --109417449(+) GTACCA/GACGAG 3 -- ds50010--------
    rs1390528981,2
    --109417451(+) ACCGAC/TGAGAC 3 -- ds50010--------
    rs128436531,2
    C,H--109417780(+) GTCTTA/CCGGTA 3 -- ut315Minor allele frequency- C:0.00NS EA NA 420
    rs128436641,2
    C--109417794(+) AAAAAA/CCAGGT 3 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for AMMECR1 (109437414 - 109683461 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for AMMECR1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7036CNV Loss18451855
    nsv438150CNV Loss16468122
    nsv518116CNV Gain19592680
    dgv2464e1CNV Complex17122850

    Locus Specific Mutation Databases (LSDB): AMMECR1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing AMMECR1
    DNA2.0 Custom Variant and Variant Library Synthesis for AMMECR1

    (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: 300195    OMIM disorders: --

    UniProtKB/Swiss-Prot: AMMR1_HUMAN, Q9Y4X0
  • Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A
    X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss,
    mental retardation, midface hypoplasia and elliptocytosis. Note=The gene represented in this entry may be
    involved in disease pathogenesis

  • 10 diseases for AMMECR1:    
    About MalaCards
    alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis    alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis    alport syndrome    mental retardation
    pyloric stenosis    intellectual disability    glomerulonephritis    multiple myeloma
    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for AMMECR1:
    Alport syndrome     Pyloric stenosis

    AMMECR1 for disorders           About GeneDecksing


    Export disorders for AMMECR1 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 AMMECR1 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with AMMECR1)
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    world of online information

    1. Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). (PubMed id 10049589)1, 2, 3 Vitelli F.... Renieri A. (Genomics 1999)
    2. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. (PubMed id 9480748)1, 3 Piccini M.... Renieri A. (Genomics 1998)
    6. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    7. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    8. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    9. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)

    (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: 9949 HGNC: 467 AceView: AMMECR1 Ensembl:ENSG00000101935 euGenes: HUgn9949
    ECgene: AMMECR1 H-InvDB: AMMECR1

    (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 AMMECR1 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 AMMECR1 gene:
    Search GeneIP for patents involving AMMECR1

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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