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    Acd adrenocortical dysplasia [ Mus musculus (house mouse) ]

    Gene ID: 497652, updated on 23-Jun-2021

    Summary

    Official Symbol
    Acdprovided by MGI
    Official Full Name
    adrenocortical dysplasiaprovided by MGI
    Primary source
    MGI:MGI:87873
    See related
    Ensembl:ENSMUSG00000038000
    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
    Expression
    Ubiquitous expression in thymus adult (RPKM 30.5), spleen adult (RPKM 21.2) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Acd in Genome Data Viewer
    Location:
    8 D3; 8 53.04 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (106424787..106427860, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (105698155..105701228, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (108222059..108224995, complement)

    Chromosome 8 - NC_000074.7Genomic 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 Neighboring gene glucose-fructose oxidoreductase domain containing 2

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    adrenocortical dysplasia
    GeneReviews: Not available

    Variation

    Alleles

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

    Pathways from PubChem

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within embryonic limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in establishment of protein localization to telomere ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in intracellular protein transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of telomere maintenance via telomerase IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of single-stranded telomeric DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of telomerase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of telomerase activity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of telomere maintenance via telomerase ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protection from non-homologous end joining at telomere IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to chromosome, telomeric region IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein localization to chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within segmentation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in telomere capping IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in telomere capping IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in telomere capping ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in telomere maintenance via telomerase IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within urogenital system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in chromosome IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome, telomeric region ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
     
    part_of nuclear telomere cap complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of nuclear telomere cap complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     
    part_of shelterin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of shelterin complex ISO
    Inferred from Sequence Orthology
    more info
     
    part_of telomerase holoenzyme complex IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    adrenocortical dysplasia protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      ENSMUSP00000048180.7, ENSMUST00000042608.8
      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
      Conserved Domains (1) summary
      COG5665
      Location:57219
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]

    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
      Related
      ENSMUST00000212650.2
    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 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      106424787..106427860 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006531170.4XP_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_006531169.4XP_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]
    3. XM_006531175.4XP_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_011248435.4XP_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_030243661.2XP_030099521.1  adrenocortical dysplasia protein isoform X3

      Conserved Domains (1) summary
      COG5665
      Location:57219
      COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
    6. XM_006531174.5XP_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]
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