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Acd adrenocortical dysplasia [ Mus musculus (house mouse) ]

Gene ID: 497652, updated on 15-Jan-2023

Summary

Official Symbol
Acdprovided by MGI
Official Full Name
adrenocortical dysplasiaprovided by MGI
Primary source
MGI:MGI:87873
See related
Ensembl:ENSMUSG00000038000 AllianceGenome:MGI:87873
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
Summary
Enables telomeric DNA binding activity. Involved in protection from non-homologous end joining at telomere. Acts upstream of or within several processes, including embryonic limb morphogenesis; segmentation; and skeletal system development. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including adrenal gland; genitourinary system; liver; neural tube; and spleen. Human ortholog(s) of this gene implicated in autosomal dominant dyskeratosis congenita 6. Orthologous to human ACD (ACD shelterin complex subunit and telomerase recruitment factor). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thymus adult (RPKM 30.5), spleen adult (RPKM 21.2) and 28 other tissues See more
Orthologs
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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)

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 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 NAS
Non-traceable Author Statement
more info
PubMed 
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 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)

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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_001012638.3NP_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
    Consensus CDS
    CCDS22608.1
    UniProtKB/Swiss-Prot
    Q5EE38, Q99KF8
    UniProtKB/TrEMBL
    B2RS36
    Related
    ENSMUSP00000048180.7, ENSMUST00000042608.8
    Conserved Domains (1) summary
    pfam10341
    Location:11118
    TPP1; Shelterin complex subunit, TPP1/ACD
  2. NM_001348349.2NP_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
    UniProtKB/Swiss-Prot
    Q5EE38
    Conserved Domains (1) summary
    COG5665
    Location:57219
    COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]

RNA

  1. NR_145824.2 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
    Related
    ENSMUST00000212650.2
  2. NR_145825.2 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

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]