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    Acd adrenocortical dysplasia [ Mus musculus (house mouse) ]

    Gene ID: 497652, updated on 25-May-2017
    Official Symbol
    Acdprovided by MGI
    Official Full Name
    adrenocortical dysplasiaprovided by MGI
    Primary source
    MGI:MGI:87873
    See related
    Ensembl:ENSMUSG00000038000 Vega:OTTMUSG00000062053
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Orthologs
    Location:
    8 D3; 8 53.04 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (105698157..105701290, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (108222059..108224995, complement)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene CCCTC-binding factor Neighboring gene myosin light polypeptide 6-like Neighboring gene predicted gene, 33578 Neighboring gene capping protein regulator and myosin 1 linker 2 Neighboring gene RIKEN cDNA 4933405L10 gene Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene enkurin domain containing 1

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    adrenocortical dysplasia
    GeneReviews: Not available

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    DNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
     
    macromolecular complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of protein localization to telomere ISO
    Inferred from Sequence Orthology
    more info
     
    intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    negative regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of single-stranded telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    positive regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    protection from non-homologous end joining at telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein localization to chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    segmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere assembly ISO
    Inferred from Sequence Orthology
    more info
     
    telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    telomere capping ISO
    Inferred from Sequence Orthology
    more info
     
    telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    urogenital system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    chromosome, telomeric region IEA
    Inferred from Electronic Annotation
    more info
     
    nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear telomere cap complex ISO
    Inferred from Sequence Orthology
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    shelterin complex ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    adrenocortical dysplasia protein

    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.

    mRNA and Protein(s)

    1. NM_001012638.2NP_001012656.1  adrenocortical dysplasia protein isoform 1

      See identical proteins and their annotated locations for NP_001012656.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC152826, AK032683, BY609236
      Consensus CDS
      CCDS22608.1
      UniProtKB/Swiss-Prot
      Q5EE38
      UniProtKB/TrEMBL
      B2RS36
      Related
      ENSMUSP00000048180.6, OTTMUSP00000078561, ENSMUST00000042608.7, OTTMUST00000151492
      Conserved Domains (1) summary
      pfam10341
      Location:11118
      TPP1; Shelterin complex subunit, TPP1/ACD
    2. NM_001348349.1NP_001335278.1  adrenocortical dysplasia protein isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, has multiple coding region differences, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC152826, AK171345
      UniProtKB/Swiss-Prot
      Q5EE38

    RNA

    1. NR_145824.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site at an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC152826, AK145959
    2. NR_145825.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses two alternate splice sites at internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC152826, BF468751, CK619181, CO044452, W91186

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      105698157..105701290 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531170.2XP_006531233.1  adrenocortical dysplasia protein isoform X2

      Conserved Domains (1) summary
      COG5665
      Location:106268
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    2. XM_006531176.2XP_006531239.1  adrenocortical dysplasia protein isoform X3

      See identical proteins and their annotated locations for XP_006531239.1

      UniProtKB/Swiss-Prot
      Q5EE38
      Conserved Domains (1) summary
      COG5665
      Location:57219
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    3. XM_006531175.2XP_006531238.1  adrenocortical dysplasia protein isoform X3

      See identical proteins and their annotated locations for XP_006531238.1

      UniProtKB/Swiss-Prot
      Q5EE38
      Conserved Domains (1) summary
      COG5665
      Location:57219
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    4. XM_011248435.2XP_011246737.1  adrenocortical dysplasia protein isoform X3

      See identical proteins and their annotated locations for XP_011246737.1

      UniProtKB/Swiss-Prot
      Q5EE38
      Conserved Domains (1) summary
      COG5665
      Location:57219
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    5. XM_006531169.2XP_006531232.1  adrenocortical dysplasia protein isoform X1

      See identical proteins and their annotated locations for XP_006531232.1

      Conserved Domains (1) summary
      COG5665
      Location:114276
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    6. XM_006531174.3XP_006531237.1  adrenocortical dysplasia protein isoform X3

      See identical proteins and their annotated locations for XP_006531237.1

      UniProtKB/Swiss-Prot
      Q5EE38
      Conserved Domains (1) summary
      COG5665
      Location:57219
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    7. XM_017312888.1XP_017168377.1  adrenocortical dysplasia protein isoform X3

      UniProtKB/Swiss-Prot
      Q5EE38
      Conserved Domains (1) summary
      COG5665
      Location:57219
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]

    RNA

    1. XR_878844.2 RNA Sequence

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