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Protein

Adrenocortical dysplasia protein

Gene

Acd

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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).By similarity1 Publication

GO - Molecular functioni

  • DNA polymerase binding Source: MGI
  • macromolecular complex binding Source: MGI
  • telomeric DNA binding Source: BHF-UCL

GO - Biological processi

  • embryonic limb morphogenesis Source: MGI
  • establishment of protein localization to telomere Source: MGI
  • intracellular protein transport Source: MGI
  • negative regulation of telomere maintenance via telomerase Source: MGI
  • positive regulation of single-stranded telomeric DNA binding Source: MGI
  • positive regulation of telomerase activity Source: MGI
  • positive regulation of telomere maintenance via telomerase Source: MGI
  • protection from non-homologous end joining at telomere Source: BHF-UCL
  • protein localization to chromosome, telomeric region Source: MGI
  • segmentation Source: MGI
  • skeletal system development Source: MGI
  • telomere assembly Source: MGI
  • telomere capping Source: BHF-UCL
  • telomere maintenance Source: MGI
  • urogenital system development Source: MGI
Complete GO annotation...

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiR-MMU-1221632. Meiotic synapsis.
R-MMU-1221633. Meiotic Synapsis.
R-MMU-2559586. DNA Damage/Telomere Stress Induced Senescence.

Names & Taxonomyi

Protein namesi
Recommended name:
Adrenocortical dysplasia protein
Gene namesi
Name:Acd
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 8

Organism-specific databases

MGIiMGI:87873. Acd.

Subcellular locationi

  • Nucleus By similarity
  • Chromosometelomere By similarity

GO - Cellular componenti

  • cytoplasm Source: MGI
  • nuclear chromosome, telomeric region Source: BHF-UCL
  • nuclear telomere cap complex Source: BHF-UCL
  • nucleoplasm Source: MGI
  • nucleus Source: MGI
  • telosome Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Involvement in diseasei

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 E14.5 to E17.5 embryos revealed reduced formation of caudal structure as well as limb defects.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002390201 – 416Adrenocortical dysplasia proteinAdd BLAST416

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei25PhosphoserineCombined sources1
Modified residuei313PhosphoserineCombined sources1
Modified residuei317PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ5EE38.
PaxDbiQ5EE38.
PeptideAtlasiQ5EE38.
PRIDEiQ5EE38.

PTM databases

iPTMnetiQ5EE38.
PhosphoSitePlusiQ5EE38.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Developmental stagei

Expressed from E7 to E18 throughout development.1 Publication

Gene expression databases

BgeeiENSMUSG00000038000.
CleanExiMM_ACD.
ExpressionAtlasiQ5EE38. baseline and differential.
GenevisibleiQ5EE38. MM.

Interactioni

Subunit structurei

Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2, TERF2IP ACD and POT1. Forms heterodimers with POT1. Identified in a complex with POT1 and single-stranded telomeric DNA. Interacts with STN1/OBFC1 and TINF2.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Obfc1Q8K2X32EBI-6258642,EBI-2553883

GO - Molecular functioni

Protein-protein interaction databases

DIPiDIP-29612N.
IntActiQ5EE38. 7 interactors.
STRINGi10090.ENSMUSP00000048180.

Structurei

3D structure databases

ProteinModelPortaliQ5EE38.
SMRiQ5EE38.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni156 – 245Interaction with POT1By similarityAdd BLAST90

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi11 – 13PWI3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi236 – 317Ser-richAdd BLAST82

Phylogenomic databases

eggNOGiENOG410IGMZ. Eukaryota.
ENOG410YTBM. LUCA.
GeneTreeiENSGT00390000004877.
HOGENOMiHOG000033778.
HOVERGENiHBG080817.
InParanoidiQ5EE38.
KOiK11114.
OMAiWEEKEFG.
OrthoDBiEOG091G05BM.
PhylomeDBiQ5EE38.
TreeFamiTF338536.

Family and domain databases

InterProiIPR028631. ACD.
[Graphical view]
PANTHERiPTHR14487. PTHR14487. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5EE38-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSDSGLLALQ PWIRELILGS ETLSSPRTGQ LLKVLQDSET PGPSSAPDTP
60 70 80 90 100
DTGAVLLVSD GTHSVRCVVT RNAIDTSDWE EKELGFRGTE GRLLLLQACG
110 120 130 140 150
LRVQVAQDHA PAEFYLQVDR FNLLPTEQPR IQVTGCNQDS DVQRKLNECL
160 170 180 190 200
EDHLSESASS SAGLTLSQLL DEVREDQDHR GALVCLAKSC LVLKGPCTTT
210 220 230 240 250
PLTDWITSGS QALGKAVFTV SGSLLHIPEG EEQILSSTGS SQKARGTSAS
260 270 280 290 300
PSHMPLEESG ASVSLLSALA TSDPGQMDSS QSPPAVGSTS PRAQAPTSPP
310 320 330 340 350
CNSTPSSLLL NCSPSLSPLH PAPRSHQSCE TRAQAPKLEF QCSFKKRQLL
360 370 380 390 400
PRTSAQELCS VWEPPERHRD TSAFQYKYET PSASLHTQVQ TARLSPQLVA
410
WALNIVMESE SELTQV
Length:416
Mass (Da):44,713
Last modified:March 15, 2005 - v1
Checksum:i357CB31A8C4639BF
GO
Isoform 2 (identifier: Q5EE38-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.
     101-136: LRVQVAQDHAPAEFYLQVDRFNLLPTEQPRIQVTGC → MKLPPFVSSRALGIDLQVRGMGINNPDHLPPSSSPS

Note: No experimental confirmation available.
Show »
Length:316
Mass (Da):33,731
Checksum:iA46478B40D1752B6
GO
Isoform 3 (identifier: Q5EE38-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-191: Missing.
     192-213: VLKGPCTTTPLTDWITSGSQAL → MCRENSMSVLRTTSQSLLLPVQ

Note: No experimental confirmation available.
Show »
Length:225
Mass (Da):24,126
Checksum:i693277F805084F65
GO
Isoform 4 (identifier: Q5EE38-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-253: Missing.

Note: No experimental confirmation available.
Show »
Length:163
Mass (Da):17,629
Checksum:iE8BFEC040F32A3A5
GO
Isoform 5 (identifier: Q5EE38-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-158: Missing.
     159-162: SSSA → MLAP
     214-232: GKAVFTVSGSLLHIPEGEE → VSAGLFLGGFRGRVRQLPC
     233-416: Missing.

Note: No experimental confirmation available.
Show »
Length:74
Mass (Da):7,883
Checksum:iF74862718297BF4B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti158A → T in BAE35904 (PubMed:16141072).Curated1
Sequence conflicti393R → W in BAE20450 (PubMed:16141072).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0190671 – 253Missing in isoform 4. 1 PublicationAdd BLAST253
Alternative sequenceiVSP_0190681 – 191Missing in isoform 3. 1 PublicationAdd BLAST191
Alternative sequenceiVSP_0190691 – 158Missing in isoform 5. 1 PublicationAdd BLAST158
Alternative sequenceiVSP_0190701 – 100Missing in isoform 2. 1 PublicationAdd BLAST100
Alternative sequenceiVSP_019071101 – 136LRVQV…QVTGC → MKLPPFVSSRALGIDLQVRG MGINNPDHLPPSSSPS in isoform 2. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_019072159 – 162SSSA → MLAP in isoform 5. 1 Publication4
Alternative sequenceiVSP_019073192 – 213VLKGP…GSQAL → MCRENSMSVLRTTSQSLLLP VQ in isoform 3. 1 PublicationAdd BLAST22
Alternative sequenceiVSP_019074214 – 232GKAVF…PEGEE → VSAGLFLGGFRGRVRQLPC in isoform 5. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_019075233 – 416Missing in isoform 5. 1 PublicationAdd BLAST184

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY902197 Genomic DNA. Translation: AAW82804.1.
AK030405 mRNA. Translation: BAE20450.1.
AK032683 mRNA. Translation: BAE43282.1.
AK145959 mRNA. Translation: BAE26785.1.
AK160599 mRNA. Translation: BAE35904.1.
AK171345 mRNA. Translation: BAE42403.1.
BC004682 mRNA. Translation: AAH04682.1.
CCDSiCCDS22608.1. [Q5EE38-1]
RefSeqiNP_001012656.1. NM_001012638.1. [Q5EE38-1]
XP_006531237.1. XM_006531174.3. [Q5EE38-3]
XP_006531238.1. XM_006531175.2. [Q5EE38-3]
XP_006531239.1. XM_006531176.2. [Q5EE38-3]
XP_011246737.1. XM_011248435.2. [Q5EE38-3]
XP_017168377.1. XM_017312888.1. [Q5EE38-3]
UniGeneiMm.12964.

Genome annotation databases

EnsembliENSMUST00000042608; ENSMUSP00000048180; ENSMUSG00000038000. [Q5EE38-1]
GeneIDi497652.
KEGGimmu:497652.
UCSCiuc009ndq.1. mouse. [Q5EE38-1]
uc009ndr.1. mouse. [Q5EE38-4]
uc009ndt.1. mouse. [Q5EE38-3]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY902197 Genomic DNA. Translation: AAW82804.1.
AK030405 mRNA. Translation: BAE20450.1.
AK032683 mRNA. Translation: BAE43282.1.
AK145959 mRNA. Translation: BAE26785.1.
AK160599 mRNA. Translation: BAE35904.1.
AK171345 mRNA. Translation: BAE42403.1.
BC004682 mRNA. Translation: AAH04682.1.
CCDSiCCDS22608.1. [Q5EE38-1]
RefSeqiNP_001012656.1. NM_001012638.1. [Q5EE38-1]
XP_006531237.1. XM_006531174.3. [Q5EE38-3]
XP_006531238.1. XM_006531175.2. [Q5EE38-3]
XP_006531239.1. XM_006531176.2. [Q5EE38-3]
XP_011246737.1. XM_011248435.2. [Q5EE38-3]
XP_017168377.1. XM_017312888.1. [Q5EE38-3]
UniGeneiMm.12964.

3D structure databases

ProteinModelPortaliQ5EE38.
SMRiQ5EE38.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-29612N.
IntActiQ5EE38. 7 interactors.
STRINGi10090.ENSMUSP00000048180.

PTM databases

iPTMnetiQ5EE38.
PhosphoSitePlusiQ5EE38.

Proteomic databases

EPDiQ5EE38.
PaxDbiQ5EE38.
PeptideAtlasiQ5EE38.
PRIDEiQ5EE38.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000042608; ENSMUSP00000048180; ENSMUSG00000038000. [Q5EE38-1]
GeneIDi497652.
KEGGimmu:497652.
UCSCiuc009ndq.1. mouse. [Q5EE38-1]
uc009ndr.1. mouse. [Q5EE38-4]
uc009ndt.1. mouse. [Q5EE38-3]

Organism-specific databases

CTDi65057.
MGIiMGI:87873. Acd.

Phylogenomic databases

eggNOGiENOG410IGMZ. Eukaryota.
ENOG410YTBM. LUCA.
GeneTreeiENSGT00390000004877.
HOGENOMiHOG000033778.
HOVERGENiHBG080817.
InParanoidiQ5EE38.
KOiK11114.
OMAiWEEKEFG.
OrthoDBiEOG091G05BM.
PhylomeDBiQ5EE38.
TreeFamiTF338536.

Enzyme and pathway databases

ReactomeiR-MMU-1221632. Meiotic synapsis.
R-MMU-1221633. Meiotic Synapsis.
R-MMU-2559586. DNA Damage/Telomere Stress Induced Senescence.

Miscellaneous databases

PROiQ5EE38.
SOURCEiSearch...

Gene expression databases

BgeeiENSMUSG00000038000.
CleanExiMM_ACD.
ExpressionAtlasiQ5EE38. baseline and differential.
GenevisibleiQ5EE38. MM.

Family and domain databases

InterProiIPR028631. ACD.
[Graphical view]
PANTHERiPTHR14487. PTHR14487. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiACD_MOUSE
AccessioniPrimary (citable) accession number: Q5EE38
Secondary accession number(s): Q3TBB1
, Q3TUR7, Q3UKL6, Q3V3Y1, Q99KF8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: March 15, 2005
Last modified: November 2, 2016
This is version 103 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Miscellaneous

Adrenocortical dysplasia mouse was initially reported as a model of human congenital adrenal hypoplasia (AHC).

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.