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Protein

Adrenocortical dysplasia protein homolog

Gene

ACD

Organism
Homo sapiens (Human)
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. May play a role in organogenesis.7 Publications

GO - Molecular functioni

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

GO - Biological processi

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

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiR-HSA-1221632. Meiotic synapsis.
R-HSA-171306. Packaging Of Telomere Ends.
R-HSA-2559586. DNA Damage/Telomere Stress Induced Senescence.
SIGNORiQ96AP0.

Names & Taxonomyi

Protein namesi
Recommended name:
Adrenocortical dysplasia protein homolog
Alternative name(s):
POT1 and TIN2-interacting protein
Gene namesi
Name:ACD
Synonyms:PIP1, PTOP, TINT1, TPP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:25070. ACD.

Subcellular locationi

GO - Cellular componenti

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

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

Pathology & Biotechi

Involvement in diseasei

Dyskeratosis congenita, autosomal dominant, 6 (DKCA6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
See also OMIM:616553
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075693170Missing in DKCA6 and DKCB7; localizes properly on telomeres; unable to recruit telomerase to the telomeres. 2 Publications1
Dyskeratosis congenita, autosomal recessive, 7 (DKCB7)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of dyskeratosis congenita, a rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy.
See also OMIM:616553
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075693170Missing in DKCA6 and DKCB7; localizes properly on telomeres; unable to recruit telomerase to the telomeres. 2 Publications1
Natural variantiVAR_075694491P → T in DKCB7; localizes properly on telomeres; decreased interaction with TINF2. 1 PublicationCorresponds to variant rs201441120dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNETi65057.
MalaCardsiACD.
MIMi616553. phenotype.
OpenTargetsiENSG00000102977.
PharmGKBiPA134882431.

Polymorphism and mutation databases

BioMutaiACD.
DMDMi296439451.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002390191 – 544Adrenocortical dysplasia protein homologAdd BLAST544

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei111PhosphoserineCombined sources1
Modified residuei435PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96AP0.
MaxQBiQ96AP0.
PaxDbiQ96AP0.
PeptideAtlasiQ96AP0.
PRIDEiQ96AP0.

PTM databases

iPTMnetiQ96AP0.
PhosphoSitePlusiQ96AP0.
SwissPalmiQ96AP0.

Expressioni

Gene expression databases

BgeeiENSG00000102977.
CleanExiHS_ACD.
HS_TPP1.
ExpressionAtlasiQ96AP0. baseline and differential.
GenevisibleiQ96AP0. HS.

Organism-specific databases

HPAiHPA049411.
HPA057660.

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 TINF2.7 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DBNLQ9UJU62EBI-717666,EBI-751783
DPYSL3Q141952EBI-717666,EBI-1104726
EIF3GO758212EBI-717666,EBI-366632
ENSAO437682EBI-717666,EBI-714511
IPO5O004102EBI-717666,EBI-356424
IVLP074762EBI-717666,EBI-11307220
LRRC25Q8N3862EBI-717666,EBI-11304917
OBFC1Q9H6684EBI-717666,EBI-746930
PDLIM2Q96JY62EBI-717666,EBI-9057264
POT1Q9NUX57EBI-717666,EBI-752420
POT1Q9NUX5-23EBI-717666,EBI-752435
RBKSQ9H4772EBI-717666,EBI-10982959
RGS3P497962EBI-717666,EBI-2107809
SBDSQ9Y3A52EBI-717666,EBI-1046471
STIP1P319482EBI-717666,EBI-1054052
STUB1Q9UNE72EBI-717666,EBI-357085
TBC1D10AQ9BXI62EBI-717666,EBI-7815040
TBCDQ9BTW92EBI-717666,EBI-356005
TINF2Q9BSI48EBI-717666,EBI-717399
TINF2Q9BSI4-35EBI-717666,EBI-717418
TUBB2AQ138852EBI-717666,EBI-711595
UPF1Q929003EBI-717666,EBI-373471
YWHAEP622582EBI-717666,EBI-356498

GO - Molecular functioni

  • DNA polymerase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi122379. 67 interactors.
DIPiDIP-29611N.
IntActiQ96AP0. 67 interactors.
MINTiMINT-1387856.
STRINGi9606.ENSP00000377496.

Structurei

Secondary structure

1544
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi99 – 104Combined sources6
Beta strandi105 – 107Combined sources3
Beta strandi113 – 122Combined sources10
Beta strandi142 – 147Combined sources6
Beta strandi152 – 157Combined sources6
Helixi159 – 163Combined sources5
Beta strandi180 – 192Combined sources13
Beta strandi201 – 215Combined sources15
Helixi224 – 226Combined sources3
Helixi228 – 238Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2I46X-ray2.70A/B90-250[»]
ProteinModelPortaliQ96AP0.
SMRiQ96AP0.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ96AP0.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni244 – 337Interaction with POT1Add BLAST94

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi97 – 99PWI3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi354 – 442Ser-richAdd BLAST89

Phylogenomic databases

eggNOGiENOG410IGMZ. Eukaryota.
ENOG410YTBM. LUCA.
GeneTreeiENSGT00390000004877.
HOGENOMiHOG000033778.
HOVERGENiHBG080817.
InParanoidiQ96AP0.
KOiK11114.
OMAiWEEKEFG.
OrthoDBiEOG091G05BM.
PhylomeDBiQ96AP0.
TreeFamiTF338536.

Family and domain databases

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

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96AP0-1) [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
MPGRCQSDAA MRVNGPASRA PAGWTSGSLH TGPRAGRPRA QARGVRGRGL
60 70 80 90 100
LLRPRPAKEL PLPRKGGAWA PAGNPGPLHP LGVAVGMAGS GRLVLRPWIR
110 120 130 140 150
ELILGSETPS SPRAGQLLEV LQDAEAAVAG PSHAPDTSDV GATLLVSDGT
160 170 180 190 200
HSVRCLVTRE ALDTSDWEEK EFGFRGTEGR LLLLQDCGVH VQVAEGGAPA
210 220 230 240 250
EFYLQVDRFS LLPTEQPRLR VPGCNQDLDV QKKLYDCLEE HLSESTSSNA
260 270 280 290 300
GLSLSQLLDE MREDQEHQGA LVCLAESCLT LEGPCTAPPV THWAASRCKA
310 320 330 340 350
TGEAVYTVPS SMLCISENDQ LILSSLGPCQ RTQGPELPPP DPALQDLSLT
360 370 380 390 400
LIASPPSSPS SSGTPALPGH MSSEESGTSI SLLPALSLAA PDPGQRSSSQ
410 420 430 440 450
PSPAICSAPA TLTPRSPHAS RTPSSPLQSC TPSLSPRSHV PSPHQALVTR
460 470 480 490 500
PQKPSLEFKE FVGLPCKNRP PFPRTGATRG AQEPCSVWEP PKRHRDGSAF
510 520 530 540
QYEYEPPCTS LCARVQAVRL PPQLMAWALH FLMDAQPGSE PTPM
Length:544
Mass (Da):57,733
Last modified:May 18, 2010 - v3
Checksum:iD2FDF242DA98C483
GO
Isoform 2 (identifier: Q96AP0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     120-122: Missing.

Show »
Length:541
Mass (Da):57,393
Checksum:iFFA3D5AB642E519F
GO

Sequence cautioni

The sequence AAX82621 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti224C → R in BAB14658 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075693170Missing in DKCA6 and DKCB7; localizes properly on telomeres; unable to recruit telomerase to the telomeres. 2 Publications1
Natural variantiVAR_060224301T → M.Corresponds to variant rs72547495dbSNPEnsembl.1
Natural variantiVAR_075694491P → T in DKCB7; localizes properly on telomeres; decreased interaction with TINF2. 1 PublicationCorresponds to variant rs201441120dbSNPEnsembl.1
Natural variantiVAR_060225518V → A.2 PublicationsCorresponds to variant rs6979dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_019066120 – 122Missing in isoform 2. 1 Publication3

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY502940 mRNA. Translation: AAS80318.1.
AK023726 mRNA. Translation: BAB14658.1.
AC010530 Genomic DNA. No translation available.
BC016904 mRNA. Translation: AAH16904.1.
AY971883 Genomic DNA. Translation: AAX82621.1. Different initiation.
CCDSiCCDS10842.1. [Q96AP0-2]
CCDS42181.1. [Q96AP0-1]
RefSeqiNP_001075955.1. NM_001082486.1. [Q96AP0-1]
NP_001075956.1. NM_001082487.1.
NP_075065.2. NM_022914.2. [Q96AP0-2]
UniGeneiHs.78019.

Genome annotation databases

EnsembliENST00000219251; ENSP00000219251; ENSG00000102977. [Q96AP0-2]
ENST00000393919; ENSP00000377496; ENSG00000102977. [Q96AP0-1]
ENST00000620338; ENSP00000483117; ENSG00000102977. [Q96AP0-1]
GeneIDi65057.
KEGGihsa:65057.
UCSCiuc002etp.5. human. [Q96AP0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY502940 mRNA. Translation: AAS80318.1.
AK023726 mRNA. Translation: BAB14658.1.
AC010530 Genomic DNA. No translation available.
BC016904 mRNA. Translation: AAH16904.1.
AY971883 Genomic DNA. Translation: AAX82621.1. Different initiation.
CCDSiCCDS10842.1. [Q96AP0-2]
CCDS42181.1. [Q96AP0-1]
RefSeqiNP_001075955.1. NM_001082486.1. [Q96AP0-1]
NP_001075956.1. NM_001082487.1.
NP_075065.2. NM_022914.2. [Q96AP0-2]
UniGeneiHs.78019.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2I46X-ray2.70A/B90-250[»]
ProteinModelPortaliQ96AP0.
SMRiQ96AP0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122379. 67 interactors.
DIPiDIP-29611N.
IntActiQ96AP0. 67 interactors.
MINTiMINT-1387856.
STRINGi9606.ENSP00000377496.

PTM databases

iPTMnetiQ96AP0.
PhosphoSitePlusiQ96AP0.
SwissPalmiQ96AP0.

Polymorphism and mutation databases

BioMutaiACD.
DMDMi296439451.

Proteomic databases

EPDiQ96AP0.
MaxQBiQ96AP0.
PaxDbiQ96AP0.
PeptideAtlasiQ96AP0.
PRIDEiQ96AP0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000219251; ENSP00000219251; ENSG00000102977. [Q96AP0-2]
ENST00000393919; ENSP00000377496; ENSG00000102977. [Q96AP0-1]
ENST00000620338; ENSP00000483117; ENSG00000102977. [Q96AP0-1]
GeneIDi65057.
KEGGihsa:65057.
UCSCiuc002etp.5. human. [Q96AP0-1]

Organism-specific databases

CTDi65057.
DisGeNETi65057.
GeneCardsiACD.
H-InvDBHIX0013152.
HGNCiHGNC:25070. ACD.
HPAiHPA049411.
HPA057660.
MalaCardsiACD.
MIMi609377. gene.
616553. phenotype.
neXtProtiNX_Q96AP0.
OpenTargetsiENSG00000102977.
PharmGKBiPA134882431.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGMZ. Eukaryota.
ENOG410YTBM. LUCA.
GeneTreeiENSGT00390000004877.
HOGENOMiHOG000033778.
HOVERGENiHBG080817.
InParanoidiQ96AP0.
KOiK11114.
OMAiWEEKEFG.
OrthoDBiEOG091G05BM.
PhylomeDBiQ96AP0.
TreeFamiTF338536.

Enzyme and pathway databases

ReactomeiR-HSA-1221632. Meiotic synapsis.
R-HSA-171306. Packaging Of Telomere Ends.
R-HSA-2559586. DNA Damage/Telomere Stress Induced Senescence.
SIGNORiQ96AP0.

Miscellaneous databases

EvolutionaryTraceiQ96AP0.
GeneWikiiACD_(gene).
GenomeRNAii65057.
PROiQ96AP0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102977.
CleanExiHS_ACD.
HS_TPP1.
ExpressionAtlasiQ96AP0. baseline and differential.
GenevisibleiQ96AP0. HS.

Family and domain databases

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

Entry informationi

Entry nameiACD_HUMAN
AccessioniPrimary (citable) accession number: Q96AP0
Secondary accession number(s): Q562H5, Q9H8F9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 127 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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.