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Protein

Adrenocortical dysplasia protein homolog

Gene

ACD

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • protein binding involved in negative regulation of telomere maintenance via telomerase Source: GO_Central
  • protein-containing complex binding Source: BHF-UCL
  • telomeric DNA binding Source: BHF-UCL

GO - Biological processi

Keywordsi

Molecular functionDNA-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

Protein family/group databases

MoonDBiQ96AP0 Predicted

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

EuPathDBiHostDB:ENSG00000102977.13
HGNCiHGNC:25070 ACD
MIMi609377 gene
neXtProtiNX_Q96AP0

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
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_075694491P → T in DKCB7; localizes properly on telomeres; decreased interaction with TINF2. 1 PublicationCorresponds to variant dbSNP:rs201441120EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Dyskeratosis congenita

Organism-specific databases

DisGeNETi65057
MalaCardsiACD
MIMi616553 phenotype
OpenTargetsiENSG00000102977
Orphaneti618 Familial melanoma
397692 Hereditary isolated aplastic anemia
3322 Hoyeraal-Hreidarsson syndrome
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
Cross-linki467Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ96AP0
MaxQBiQ96AP0
PaxDbiQ96AP0
PeptideAtlasiQ96AP0
PRIDEiQ96AP0
ProteomicsDBi75979
75980 [Q96AP0-2]

PTM databases

iPTMnetiQ96AP0
PhosphoSitePlusiQ96AP0
SwissPalmiQ96AP0

Expressioni

Gene expression databases

BgeeiENSG00000102977 Expressed in 223 organ(s), highest expression level in right hemisphere of cerebellum
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 and TINF2.7 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi122379, 68 interactors
ComplexPortaliCPX-152 Shelterin complex
CORUMiQ96AP0
DIPiDIP-29611N
IntActiQ96AP0, 76 interactors
MINTiQ96AP0
STRINGi9606.ENSP00000377496

Structurei

Secondary structure

1544
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
OMAiPALPGHM
OrthoDBiEOG091G05BM
PhylomeDBiQ96AP0
TreeFamiTF338536

Family and domain databases

InterProiView protein in InterPro
IPR028631 ACD
PANTHERiPTHR14487 PTHR14487, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
R4GNJ5R4GNJ5_HUMAN
Adrenocortical dysplasia protein ho...
ACD
442Annotation score:
A0A0C4DGT6A0A0C4DGT6_HUMAN
Adrenocortical dysplasia protein ho...
ACD
458Annotation score:
R4GMR6R4GMR6_HUMAN
Adrenocortical dysplasia protein ho...
ACD
182Annotation score:
R4GND4R4GND4_HUMAN
Adrenocortical dysplasia protein ho...
ACD
16Annotation score:

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 dbSNP:rs72547495Ensembl.1
Natural variantiVAR_075694491P → T in DKCB7; localizes properly on telomeres; decreased interaction with TINF2. 1 PublicationCorresponds to variant dbSNP:rs201441120EnsemblClinVar.1
Natural variantiVAR_060225518V → A2 PublicationsCorresponds to variant dbSNP:rs6979Ensembl.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.
RefSeqiNP_001075955.1, NM_001082486.1
NP_001075956.1, NM_001082487.1
NP_075065.2, NM_022914.2
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

Similar proteinsi

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.
RefSeqiNP_001075955.1, NM_001082486.1
NP_001075956.1, NM_001082487.1
NP_075065.2, NM_022914.2
UniGeneiHs.78019

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2I46X-ray2.70A/B90-250[»]
5H65X-ray2.10B266-316[»]
5I2XX-ray3.00A/B90-250[»]
5I2YX-ray3.00A/B90-250[»]
5UN7X-ray2.10B255-337[»]
5XYFX-ray2.20B510-544[»]
ProteinModelPortaliQ96AP0
SMRiQ96AP0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122379, 68 interactors
ComplexPortaliCPX-152 Shelterin complex
CORUMiQ96AP0
DIPiDIP-29611N
IntActiQ96AP0, 76 interactors
MINTiQ96AP0
STRINGi9606.ENSP00000377496

Protein family/group databases

MoonDBiQ96AP0 Predicted

PTM databases

iPTMnetiQ96AP0
PhosphoSitePlusiQ96AP0
SwissPalmiQ96AP0

Polymorphism and mutation databases

BioMutaiACD
DMDMi296439451

Proteomic databases

EPDiQ96AP0
MaxQBiQ96AP0
PaxDbiQ96AP0
PeptideAtlasiQ96AP0
PRIDEiQ96AP0
ProteomicsDBi75979
75980 [Q96AP0-2]

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
EuPathDBiHostDB:ENSG00000102977.13
GeneCardsiACD
H-InvDBiHIX0013152
HGNCiHGNC:25070 ACD
HPAiHPA049411
HPA057660
MalaCardsiACD
MIMi609377 gene
616553 phenotype
neXtProtiNX_Q96AP0
OpenTargetsiENSG00000102977
Orphaneti618 Familial melanoma
397692 Hereditary isolated aplastic anemia
3322 Hoyeraal-Hreidarsson syndrome
PharmGKBiPA134882431
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGMZ Eukaryota
ENOG410YTBM LUCA
GeneTreeiENSGT00390000004877
HOGENOMiHOG000033778
HOVERGENiHBG080817
InParanoidiQ96AP0
KOiK11114
OMAiPALPGHM
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
PROiPR:Q96AP0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000102977 Expressed in 223 organ(s), highest expression level in right hemisphere of cerebellum
CleanExiHS_ACD
HS_TPP1
ExpressionAtlasiQ96AP0 baseline and differential
GenevisibleiQ96AP0 HS

Family and domain databases

InterProiView protein in InterPro
IPR028631 ACD
PANTHERiPTHR14487 PTHR14487, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiACD_HUMAN
AccessioniPrimary (citable) accession number: Q96AP0
Secondary accession number(s): Q562H5, Q9H8F9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 146 of the entry and version 3 of the sequence. See 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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