Acd
entrez
497652
canonical
uniprot
Q5EE38
canonical
ensembl
ENSMUSG00000038000
resolver
ensp
ENSMUSP00000048180
resolver
genesymbol
Acd
resolver
uniprot
B2RS36
resolver
uniprot
Q3TBB1
resolver
uniprot
Q3TUR7
resolver
uniprot
Q3UKL6
resolver
uniprot
Q3V3Y1
resolver
uniprot
Q99KF8
resolver
uniprot_entry
ACD_MOUSE
resolver
uniprot_entry
B2RS36_MOUSE
resolver
uniprot_sec
Q3TBB1
resolver
uniprot_sec
Q3TUR7
resolver
uniprot_sec
Q3UKL6
resolver
uniprot_sec
Q3V3Y1
resolver
uniprot_sec
Q99KF8
resolver
amino_acid_sequence
MSDSGLLALQPWIRELILGSETLSSPRTGQLLKVLQDSETPGPSSAPDTPDTGAVLLVSDGTHSVRCVVTRNAIDTSDWEEKELGFRGTEGRLLLLQACGLRVQVAQDHAPAEFYLQVDRFNLLPTEQPRIQVTGCNQDSDVQRKLNECLEDHLSESASSSAGLTLSQLLDEVREDQDHRGALVCLAKSCLVLKGPCTTTPLTDWITSGSQALGKAVFTVSGSLLHIPEGEEQILSSTGSSQKARGTSASPSHMPLEESGASVSLLSALATSDPGQMDSSQSPPAVGSTSPRAQAPTSPPCNSTPSSLLLNCSPSLSPLHPAPRSHQSCETRAQAPKLEFQCSFKKRQLLPRTSAQELCSVWEPPERHRDTSAFQYKYETPSASLHTQVQTARLSPQLVAWALNIVMESESELTQV
uniprot
proteins
disease_involvement
DISEASE: Note=Defects in Acd are the cause of adrenocortical dysplasia (ACD). ACD is a spontaneous autosomal recessive mouse mutant resulting from spontaneous splicing mutation of acd. ACD mice are characterized by developmental defects in organs derived from the urogenital ridge, reduced survival, poor growth, skin hyperpigmentation and adrenal insufficiency. Forty percent of the mutants died within 24 hours. Analysis of 14.5 dpc to 17.5 dpc embryos revealed reduced formation of caudal structure as well as limb defects.
uniprot
proteins
function
FUNCTION: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of POT1 on telomere elongation. The ACD-POT1 heterodimer enhances telomere elongation by recruiting telomerase to telomeres and increasing its processivity (By similarity). May play a role in organogenesis (PubMed:15537664). {ECO:0000250|UniProtKB:Q96AP0, ECO:0000269|PubMed:15537664}.
uniprot
proteins
mass_dalton
44713
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15537664
uniprot
proteins
pubmed
16141072
uniprot
proteins
pubmed
19648609
uniprot
proteins
pubmed
21183079
uniprot
proteins
sequence_length
416
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q96AP0}. Chromosome, telomere {ECO:0000250|UniProtKB:Q96AP0}.
uniprot
proteins