About   Help   FAQ
Acd Gene Detail
Summary
  • Symbol
    Acd
  • Name
    adrenocortical dysplasia
  • Feature Type
    protein coding gene
  • IDs
    MGI:87873
    NCBI Gene: 497652
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:106424789-106427748 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 53.04 cM
  • Mapping Data
    5 experiments
Strain
Comparison
more
  • SNPs within 2kb
    112 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_87873
 protein coding gene Chr8:106422492-106427748 (-)
129S1/SvImJ MGP_129S1SvImJ_G0034054
 protein coding gene Chr8:108000938-108003860 (-)
A/J MGP_AJ_G0034035
 protein coding gene Chr8:103684493-103687469 (-)
AKR/J MGP_AKRJ_G0033961
 protein coding gene Chr8:106685335-106688272 (-)
BALB/cJ MGP_BALBcJ_G0034028
 protein coding gene Chr8:103874895-103877831 (-)
C3H/HeJ MGP_C3HHeJ_G0033740
 protein coding gene Chr8:107426161-107429049 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034548
 protein coding gene Chr8:111968865-111971803 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031490
 protein coding gene Chr8:96822536-96825483 (-)
CAST/EiJ MGP_CASTEiJ_G0033066
 protein coding gene Chr8:106925965-106928923 (-)
CBA/J MGP_CBAJ_G0033713
 protein coding gene Chr8:115562316-115565273 (-)
DBA/2J MGP_DBA2J_G0033868
 protein coding gene Chr8:103031779-103035021 (-)
FVB/NJ MGP_FVBNJ_G0033814
 protein coding gene Chr8:101960596-101963490 (-)
LP/J MGP_LPJ_G0033959
 protein coding gene Chr8:108208164-108211068 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033857
 protein coding gene Chr8:118758835-118762689 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034566
 protein coding gene Chr8:106649285-106652221 (-)
PWK/PhJ MGP_PWKPhJ_G0032767
 protein coding gene Chr8:102422395-102425301 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032608
 protein coding gene Chr8:105334427-105337325 (-)
WSB/EiJ MGP_WSBEiJ_G0033182
 protein coding gene Chr8:107318923-107321861 (-)



Homology
more
  • Human Ortholog
    ACD, ACD shelterin complex subunit and telomerase recruitment factor
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACD, ACD shelterin complex subunit and telomerase recruitment factor
  • Synonyms
    PIP1, PTOP, TINT1, TPP1
  • Links
    NCBI Gene ID: 65057
    neXtProt AC: NX_Q96AP0
    UniProt: Q96AP0

  • Chr Location
    16q22.1; chr16:67657512-67660810 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ACD associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    47 phenotypes from 4 alleles in 5 genetic backgrounds
    15 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mutations in this gene produce skeletal, coat, vibrissae and skin pigmentation defects. Kidney and adrenal abnormalities cause a shortened lifespan.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    13
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    791
  • Tissues
    55
  • cDNA Data
    17
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 497652 NCBI Gene Model | MGI Sequence Detail 2960 C57BL/6J ±  kb
    transcript NR_145824 RefSeq | MGI Sequence Detail 1539 ZRU/MplStud  
    polypeptide Q5EE38 UniProt | EBI | MGI Sequence Detail 416 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 17
      Primer pair 7

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGD-MRK-1031
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 3
      Gene Ontology 13
      Phenotypes 15
    • Earliest
      J:18027 Beamer WG, et al., Adrenocortical dysplasia: a mouse model system for adrenocortical insufficiency. J Endocrinol. 1994 Apr;141(1):33-43
    • Latest
      J:312923 Graniel JV, et al., Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline. Life Sci Alliance. 2022 Jan;5(1)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory