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Entry version 155 (16 Oct 2019)
Sequence version 4 (18 Sep 2019)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-110328 Recognition and association of DNA glycosylase with site containing an affected pyrimidine
R-HSA-110329 Cleavage of the damaged pyrimidine
R-HSA-110330 Recognition and association of DNA glycosylase with site containing an affected purine
R-HSA-110331 Cleavage of the damaged purine
R-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence

SIGNOR Signaling Network Open Resource

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SIGNORi
Q96AP0

Protein family/group databases

MoonDB Database of extreme multifunctional and moonlighting proteins

More...
MoonDBi
Q96AP0 Predicted

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Adrenocortical dysplasia protein homologCurated
Alternative name(s):
POT1 and TIN2-interacting protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ACDImported
Synonyms:PIP11 Publication, PTOP1 Publication, TINT1, TPP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 16

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25070 ACD

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
609377 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96AP0

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07569384Missing 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07569384Missing in DKCA6 and DKCB7; localizes properly on telomeres; unable to recruit telomerase to the telomeres. 2 Publications1
Natural variantiVAR_075694405P → 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

DisGeNET

More...
DisGeNETi
65057

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
ACD

MalaCards human disease database

More...
MalaCardsi
ACD
MIMi616553 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000102977

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
618 Familial melanoma
397692 Hereditary isolated aplastic anemia
3322 Hoyeraal-Hreidarsson syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134882431

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q96AP0

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ACD

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439451

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002390191 – 458Adrenocortical dysplasia protein homologAdd BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei25PhosphoserineCombined sources1
Modified residuei349PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki381Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96AP0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96AP0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q96AP0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96AP0

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96AP0

PeptideAtlas

More...
PeptideAtlasi
Q96AP0

PRoteomics IDEntifications database

More...
PRIDEi
Q96AP0

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
75980 [Q96AP0-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q96AP0

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96AP0

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q96AP0

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000102977 Expressed in 223 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96AP0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96AP0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA049411
HPA057660

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
122379, 72 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-152 Shelterin complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q96AP0

Database of interacting proteins

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DIPi
DIP-29611N

Protein interaction database and analysis system

More...
IntActi
Q96AP0, 78 interactors

Molecular INTeraction database

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MINTi
Q96AP0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000483117

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1458
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q96AP0

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...
EvolutionaryTracei
Q96AP0

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni158 – 251Interaction with POT1Add BLAST94

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi11 – 13PWI3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi268 – 356Ser-richAdd BLAST89

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IGMZ Eukaryota
ENOG410YTBM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000004877

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000033778

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q96AP0

KEGG Orthology (KO)

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KOi
K11114

Identification of Orthologs from Complete Genome Data

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OMAi
YEPPCAS

Database of Orthologous Groups

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OrthoDBi
841353at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96AP0

TreeFam database of animal gene trees

More...
TreeFami
TF338536

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR028631 ACD

The PANTHER Classification System

More...
PANTHERi
PTHR14487 PTHR14487, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> 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 3 (identifier: Q96AP0-3) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD
60 70 80 90 100
TSDVGATLLV SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD
110 120 130 140 150
CGVHVQVAEG GAPAEFYLQV DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD
160 170 180 190 200
CLEEHLSEST SSNAGLSLSQ LLDEMREDQE HQGALVCLAE SCLTLEGPCT
210 220 230 240 250
APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL GPCQRTQGPE
260 270 280 290 300
LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
310 320 330 340 350
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP
360 370 380 390 400
RSHVPSPHQA LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS
410 420 430 440 450
VWEPPKRHRD GSAFQYEYEP PCTSLCARVQ AVRLPPQLMA WALHFLMDAQ

PGSEPTPM
Length:458
Mass (Da):48,967
Last modified:September 18, 2019 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i6EA98FFC753E9A10
GO
Isoform 2 (identifier: Q96AP0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     34-36: Missing.

Show »
Length:455
Mass (Da):48,627
Checksum:i810C73F5F7E0038B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>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:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
R4GMR6R4GMR6_HUMAN
Adrenocortical dysplasia protein ho...
ACD
182Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A3F2YNW4A0A3F2YNW4_HUMAN
Adrenocortical dysplasia protein ho...
ACD
455Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
R4GND4R4GND4_HUMAN
Adrenocortical dysplasia protein ho...
ACD
16Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH16904 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence AAS80318 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB14658 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti138C → R in BAB14658 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07569384Missing in DKCA6 and DKCB7; localizes properly on telomeres; unable to recruit telomerase to the telomeres. 2 Publications1
Natural variantiVAR_060224215T → M. Corresponds to variant dbSNP:rs72547495Ensembl.1
Natural variantiVAR_075694405P → T in DKCB7; localizes properly on telomeres; decreased interaction with TINF2. 1 PublicationCorresponds to variant dbSNP:rs201441120EnsemblClinVar.1
Natural variantiVAR_060225432V → A2 PublicationsCorresponds to variant dbSNP:rs6979Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_06024334 – 36Missing in isoform 2. 3

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY502940 mRNA Translation: AAS80318.1 Different initiation.
AY971883 Genomic DNA Translation: AAX82621.1
AK023726 mRNA Translation: BAB14658.1 Different initiation.
AC010530 Genomic DNA No translation available.
BC016904 mRNA Translation: AAH16904.1 Different initiation.

NCBI Reference Sequences

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RefSeqi
NP_001075955.1, NM_001082486.1 [Q96AP0-3]
NP_001075956.1, NM_001082487.1
NP_075065.2, NM_022914.2 [Q96AP0-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000647559; ENSP00000497937; ENSG00000102977 [Q96AP0-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
65057

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:65057

UCSC genome browser

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UCSCi
uc002etp.5 human [Q96AP0-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY502940 mRNA Translation: AAS80318.1 Different initiation.
AY971883 Genomic DNA Translation: AAX82621.1
AK023726 mRNA Translation: BAB14658.1 Different initiation.
AC010530 Genomic DNA No translation available.
BC016904 mRNA Translation: AAH16904.1 Different initiation.
RefSeqiNP_001075955.1, NM_001082486.1 [Q96AP0-3]
NP_001075956.1, NM_001082487.1
NP_075065.2, NM_022914.2 [Q96AP0-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2I46X-ray2.70A/B4-164[»]
5H65X-ray2.10B180-230[»]
5I2XX-ray3.00A/B4-164[»]
5I2YX-ray3.00A/B4-164[»]
5UN7X-ray2.10B169-251[»]
5XYFX-ray2.20B424-458[»]
SMRiQ96AP0
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi122379, 72 interactors
ComplexPortaliCPX-152 Shelterin complex
CORUMiQ96AP0
DIPiDIP-29611N
IntActiQ96AP0, 78 interactors
MINTiQ96AP0
STRINGi9606.ENSP00000483117

Protein family/group databases

MoonDBiQ96AP0 Predicted

PTM databases

iPTMnetiQ96AP0
PhosphoSitePlusiQ96AP0
SwissPalmiQ96AP0

Polymorphism and mutation databases

BioMutaiACD
DMDMi296439451

Proteomic databases

EPDiQ96AP0
jPOSTiQ96AP0
MassIVEiQ96AP0
MaxQBiQ96AP0
PaxDbiQ96AP0
PeptideAtlasiQ96AP0
PRIDEiQ96AP0
ProteomicsDBi75980 [Q96AP0-2]

Genome annotation databases

EnsembliENST00000647559; ENSP00000497937; ENSG00000102977 [Q96AP0-2]
GeneIDi65057
KEGGihsa:65057
UCSCiuc002etp.5 human [Q96AP0-3]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
65057
DisGeNETi65057

GeneCards: human genes, protein and diseases

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GeneCardsi
ACD
GeneReviewsiACD
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

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IGMZ Eukaryota
ENOG410YTBM LUCA
GeneTreeiENSGT00390000004877
HOGENOMiHOG000033778
InParanoidiQ96AP0
KOiK11114
OMAiYEPPCAS
OrthoDBi841353at2759
PhylomeDBiQ96AP0
TreeFamiTF338536

Enzyme and pathway databases

ReactomeiR-HSA-110328 Recognition and association of DNA glycosylase with site containing an affected pyrimidine
R-HSA-110329 Cleavage of the damaged pyrimidine
R-HSA-110330 Recognition and association of DNA glycosylase with site containing an affected purine
R-HSA-110331 Cleavage of the damaged purine
R-HSA-1221632 Meiotic synapsis
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
SIGNORiQ96AP0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
ACD human
EvolutionaryTraceiQ96AP0

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
ACD_(gene)

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
65057
PharosiQ96AP0

Protein Ontology

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PROi
PR:Q96AP0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

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

Family and domain databases

InterProiView protein in InterPro
IPR028631 ACD
PANTHERiPTHR14487 PTHR14487, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiACD_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96AP0
Secondary accession number(s): A0A0C4DGT6, Q562H5, Q9H8F9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: September 18, 2019
Last modified: October 16, 2019
This is version 155 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

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