Format

Send to:

Choose Destination

Links from PubMed

    • Showing Current items.

    AMER1 APC membrane recruitment protein 1 [ Homo sapiens (human) ]

    Gene ID: 139285, updated on 5-Nov-2017
    Official Symbol
    AMER1provided by HGNC
    Official Full Name
    APC membrane recruitment protein 1provided by HGNC
    Primary source
    HGNC:HGNC:26837
    See related
    Ensembl:ENSG00000184675 MIM:300647; Vega:OTTHUMG00000021703
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    WTX; OSCS; FAM123B
    Summary
    The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]
    Orthologs
    Location:
    Xq11.2
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (64185117..64205744, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (63404997..63425624, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein D pseudogene 1 Neighboring gene zinc finger protein 670 pseudogene Neighboring gene RNA, 7SL, cytoplasmic 799, pseudogene Neighboring gene ankyrin repeat and SOCS box containing 12

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ39827

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    beta-catenin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    beta-catenin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    beta-catenin destruction complex binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    phosphatidylinositol-4,5-bisphosphate binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    phosphatidylinositol-4,5-bisphosphate binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nuclear body IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    APC membrane recruitment protein 1
    Names
    RP11-403E24.2
    Wilms tumor gene on the X chromosome protein
    Wilms tumor on the X
    adenomatous polyposis coli membrane recruitment 1
    family with sequence similarity 123B
    protein FAM123B

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_021345.1 RefSeqGene

      Range
      5001..25628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_152424.3NP_689637.3  APC membrane recruitment protein 1

      See identical proteins and their annotated locations for NP_689637.3

      Status: REVIEWED

      Source sequence(s)
      AL355852, DA939151, EF186024
      Consensus CDS
      CCDS14377.2
      UniProtKB/Swiss-Prot
      Q5JTC6
      Related
      ENSP00000329117.3, OTTHUMP00000196469, ENST00000330258.3, OTTHUMT00000316584
      Conserved Domains (1) summary
      pfam09422
      Location:95534
      WTX; WTX protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      64185117..64205744 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      63297445..63318066 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center