Acd adrenocortical dysplasia [Mus musculus (house mouse)] - Gene

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; skeletal system development; and urogenital system development. Located in chromosome, telomeric region. Part of nuclear telomere cap complex. Is expressed in several structures, including adrenal gland; central nervous system; genitourinary system; hemolymphoid system gland; and liver. 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, Jan 2025]
Expression: Ubiquitous expression in thymus adult (RPKM 30.5), spleen adult (RPKM 21.2) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 8 D3; 8 53.04 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (106424789..106427748, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (105698155..105701228, complement)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TPP1 is required for TERT recruitment, telomere elongation during nuclear reprogramming, and normal skin development in mice.
Title: TPP1 is required for TERT recruitment, telomere elongation during nuclear reprogramming, and normal skin development in mice.
Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.
Title: Binding of TPP1 protein to TIN2 protein is required for POT1a,b protein-mediated telomere protection.
Telomere protection by TPP1 is mediated by POT1a and POT1b.
Title: Telomere protection by TPP1 is mediated by POT1a and POT1b.
Shelterin Telomere Protection Protein 1 Reduction Causes Telomere Attrition and Cellular Senescence via Sirtuin 1 Deacetylase in Chronic Obstructive Pulmonary Disease.
Title: Shelterin Telomere Protection Protein 1 Reduction Causes Telomere Attrition and Cellular Senescence via Sirtuin 1 Deacetylase in Chronic Obstructive Pulmonary Disease.
Dysfunctional telomeres activate an ATM-ATR-dependent DNA damage response to suppress tumorigenesis.
Title: Dysfunctional telomeres activate an ATM-ATR-dependent DNA damage response to suppress tumorigenesis.
TPP1 Blocks an ATR-Mediated Resection Mechanism at Telomeres.
Title: TPP1 Blocks an ATR-Mediated Resection Mechanism at Telomeres.
Telomere protection by TPP1/POT1 requires tethering to TIN2.
Title: Telomere protection by TPP1/POT1 requires tethering to TIN2.
Mitoribosomal Deregulation Drives Senescence via TPP1-Mediated Telomere Deprotection.
Title: Mitoribosomal Deregulation Drives Senescence via TPP1-Mediated Telomere Deprotection.
Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.
Title: Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.
TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis.
Title: TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Associated conditions

Description	Tests
adrenocortical dysplasia GeneReviews: Not available

Variation

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Alleles

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

Endonuclease-mediated (1) 1 citation
Spontaneous (1)
Targeted (3) 1 citation

General gene information

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Markers

RH132532 (e-PCR)
- UniSTS:215815

Acd (e-PCR), detects polymorphism
- UniSTS:467522

Acd (e-PCR), detects polymorphism
- UniSTS:467523

Acd (e-PCR), detects polymorphism
- UniSTS:467524

Acd (e-PCR), detects polymorphism
- UniSTS:467525

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA polymerase 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	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables telomerase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor 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	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization to telomere	ISO Inferred from Sequence Orthology more info
involved_in intracellular protein transport	IEA Inferred from Electronic Annotation 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
involved_in negative regulation of telomere maintenance via telomerase	IEA Inferred from Electronic Annotation more info
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 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
involved_in protein localization to chromosome, telomeric region	ISO Inferred from Sequence Orthology more info
involved_in regulation of establishment of protein localization to telomere	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in telomere assembly	ISO Inferred from Sequence Orthology more info
involved_in telomere capping	IBA Inferred from Biological aspect of Ancestor 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, 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	IEA Inferred from Electronic Annotation 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
part_of shelterin complex	IBA Inferred from Biological aspect of Ancestor more info
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

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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)

NM_001012638.3 → NP_001012656.1 adrenocortical dysplasia protein isoform 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

Q3TBB1, Q3TUR7, Q3UKL6, Q3V3Y1, Q5EE38, Q99KF8

UniProtKB/TrEMBL

B2RS36

Related

ENSMUSP00000048180.7, ENSMUST00000042608.8

Conserved Domains (1) summary

pfam10341
Location:11 → 118

TPP1; Shelterin complex subunit, TPP1/ACD
NM_001348349.2 → NP_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:57 → 219

COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]

RNA

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
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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000074.7 Reference GRCm39 C57BL/6J

Range

106424789..106427748 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006531170.4 → XP_006531233.1 adrenocortical dysplasia protein isoform X2

Conserved Domains (1) summary

COG5665
Location:106 → 268

COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
XM_006531169.4 → XP_006531232.1 adrenocortical dysplasia protein isoform X1

Conserved Domains (1) summary

COG5665
Location:114 → 276

COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
XM_006531175.4 → XP_006531238.1 adrenocortical dysplasia protein isoform X3

UniProtKB/Swiss-Prot

Q5EE38

Conserved Domains (1) summary

COG5665
Location:57 → 219

COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
XM_011248435.4 → XP_011246737.1 adrenocortical dysplasia protein isoform X3

UniProtKB/Swiss-Prot

Q5EE38

Conserved Domains (1) summary

COG5665
Location:57 → 219

COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
XM_030243661.2 → XP_030099521.1 adrenocortical dysplasia protein isoform X3

Conserved Domains (1) summary

COG5665
Location:57 → 219

COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]
XM_006531174.5 → XP_006531237.1 adrenocortical dysplasia protein isoform X3

UniProtKB/Swiss-Prot

Q5EE38

Conserved Domains (1) summary

COG5665
Location:57 → 219

COG5665; CCR4-NOT transcriptional regulation complex, NOT5 subunit [Transcription]