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UniProtKB - Q9H2P0 (ADNP_HUMAN)

Entry version 180 (10 Feb 2021)
Sequence version 1 (01 Mar 2001)
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Protein

Activity-dependent neuroprotector homeobox protein

Gene

ADNP

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

Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.

Miscellaneous

When isolated from the sequence, neuroprotective peptide (NAP) provides neuroprotection against the amyloid-beta peptide.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri74 – 97C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri107 – 129C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri165 – 188C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri221 – 244C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri447 – 469C2H2-type 5; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri489 – 510C2H2-type 6; atypicalPROSITE-ProRule annotationAdd BLAST22
Zinc fingeri512 – 535C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri622 – 647C2H2-type 8; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri662 – 686C2H2-type 9; atypicalPROSITE-ProRule annotationAdd BLAST25
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi754 – 814HomeoboxPROSITE-ProRule annotationAdd BLAST61

<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

Complete GO annotation on QuickGO ...

<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
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H2P0

<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%5Fand%5Ftaxonomy%5Fsection">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:
Activity-dependent neuroprotector homeobox protein
Alternative name(s):
Activity-dependent neuroprotective protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:ADNP
Synonyms:ADNP1, KIAA0784
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 20

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:15766, ADNP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611386, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H2P0

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000101126.15

<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

Nucleus

<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

Helsmoortel-van der Aa syndrome (HVDAS)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum.
Related information in OMIM

Keywords - Diseasei

Autism spectrum disorder, Mental retardation

Organism-specific databases

DisGeNET

More...DisGeNETi		23394

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

More...GeneReviewsi		ADNP

MalaCards human disease database

More...MalaCardsi		ADNP
MIMi615873, phenotype

Open Targets

More...OpenTargetsi		ENSG00000101126

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

More...Orphaneti		404448, ADNP syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA24582

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H2P0, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		ADNP

Domain mapping of disease mutations (DMDM)

More...DMDMi		24636245

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000488071 – 1102Activity-dependent neuroprotector homeobox proteinAdd BLAST1102

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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-linki39Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki72Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei98PhosphoserineCombined sources1
Cross-linki144Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki155Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki203Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki231Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki266Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki274Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki278Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki279Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki311Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki335Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei348Asymmetric dimethylarginineBy similarity1
Cross-linki367Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki408Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei409PhosphoserineCombined sources1
Modified residuei413PhosphoserineCombined sources1
Cross-linki427Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki600Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki606Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei608PhosphoserineCombined sources1
Cross-linki616Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki621Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki632Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki658Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki699Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei709PhosphoserineCombined sources1
Cross-linki716Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki728Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki731Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei736PhosphoserineCombined sources1
Modified residuei738PhosphoserineBy similarity1
Cross-linki745Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei805PhosphoserineCombined sources1
Cross-linki807Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki829Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki835Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei876PhosphoserineCombined sources1
Modified residuei878PhosphoserineCombined sources1
Modified residuei886PhosphoserineBy similarity1
Modified residuei889PhosphoserineBy similarity1
Cross-linki914Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei921PhosphoserineCombined sources1
Cross-linki930Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki935Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei953PhosphoserineCombined sources1
Modified residuei955PhosphoserineCombined sources1
Cross-linki1016Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei1035N6-acetyllysine; alternateCombined sources1
Cross-linki1035Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1042N6-acetyllysine; alternateCombined sources1
Cross-linki1042Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1071PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Isopeptide bond, Methylation, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9H2P0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H2P0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H2P0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9H2P0

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

More...PaxDbi		Q9H2P0

PeptideAtlas

More...PeptideAtlasi		Q9H2P0

PRoteomics IDEntifications database

More...PRIDEi		Q9H2P0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		80571

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		2014, 1 N-Linked glycan (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9H2P0, 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H2P0

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9H2P0

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

More...PhosphoSitePlusi		Q9H2P0

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9H2P0

<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

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Widely expressed. Strong expression in heart, skeletal muscle, kidney and placenta. In brain, expression is stronger in the cerebellum and cortex regions. No expression detected in the colon. Strong increase of expression in colon and breast cancer tissues.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000101126, Expressed in female gonad and 250 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H2P0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H2P0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000101126, Low tissue specificity

<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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116967, 86 interactors

Database of interacting proteins

More...DIPi		DIP-47288N

Protein interaction database and analysis system

More...IntActi		Q9H2P0, 45 interactors

Molecular INTeraction database

More...MINTi		Q9H2P0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000379346

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H2P0, protein

<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>Regioni354 – 361Neuroprotective peptide (NAP)1 Publication8

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri74 – 97C2H2-type 1PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri107 – 129C2H2-type 2; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri165 – 188C2H2-type 3PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri221 – 244C2H2-type 4PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri447 – 469C2H2-type 5; atypicalPROSITE-ProRule annotationAdd BLAST23
Zinc fingeri489 – 510C2H2-type 6; atypicalPROSITE-ProRule annotationAdd BLAST22
Zinc fingeri512 – 535C2H2-type 7PROSITE-ProRule annotationAdd BLAST24
Zinc fingeri622 – 647C2H2-type 8; atypicalPROSITE-ProRule annotationAdd BLAST26
Zinc fingeri662 – 686C2H2-type 9; atypicalPROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Homeobox, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QSYX, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00530000063631

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_009119_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H2P0

Identification of Orthologs from Complete Genome Data

More...OMAi		VYIKHTS

Database of Orthologous Groups

More...OrthoDBi		135860at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H2P0

TreeFam database of animal gene trees

More...TreeFami		TF328818

Family and domain databases

Conserved Domains Database

More...CDDi		cd00086, homeodomain, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR038861, ADNP/ADNP2
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR013087, Znf_C2H2_type

The PANTHER Classification System

More...PANTHERi		PTHR15740, PTHR15740, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00046, Homeodomain, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00389, HOX, 1 hit
SM00355, ZnF_C2H2, 8 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF46689, SSF46689, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50071, HOMEOBOX_2, 1 hit
PS00028, ZINC_FINGER_C2H2_1, 1 hit
PS50157, ZINC_FINGER_C2H2_2, 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%5Flength">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>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q9H2P0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFQLPVNNLG SLRKARKTVK KILSDIGLEY CKEHIEDFKQ FEPNDFYLKN 
        60         70         80         90        100
TTWEDVGLWD PSLTKNQDYR TKPFCCSACP FSSKFFSAYK SHFRNVHSED 
       110        120        130        140        150
FENRILLNCP YCTFNADKKT LETHIKIFHA PNASAPSSSL STFKDKNKND 
       160        170        180        190        200
GLKPKQADSV EQAVYYCKKC TYRDPLYEIV RKHIYREHFQ HVAAPYIAKA 
       210        220        230        240        250
GEKSLNGAVP LGSNAREESS IHCKRCLFMP KSYEALVQHV IEDHERIGYQ 
       260        270        280        290        300
VTAMIGHTNV VVPRSKPLML IAPKPQDKKS MGLPPRIGSL ASGNVRSLPS 
       310        320        330        340        350
QQMVNRLSIP KPNLNSTGVN MMSSVHLQQN NYGVKSVGQG YSVGQSMRLG 
       360        370        380        390        400
LGGNAPVSIP QQSQSVKQLL PSGNGRSYGL GSEQRSQAPA RYSLQSANAS 
       410        420        430        440        450
SLSSGQLKSP SLSQSQASRV LGQSSSKPAA AATGPPPGNT SSTQKWKICT 
       460        470        480        490        500
ICNELFPENV YSVHFEKEHK AEKVPAVANY IMKIHNFTSK CLYCNRYLPT 
       510        520        530        540        550
DTLLNHMLIH GLSCPYCRST FNDVEKMAAH MRMVHIDEEM GPKTDSTLSF 
       560        570        580        590        600
DLTLQQGSHT NIHLLVTTYN LRDAPAESVA YHAQNNPPVP PKPQPKVQEK 
       610        620        630        640        650
ADIPVKSSPQ AAVPYKKDVG KTLCPLCFSI LKGPISDALA HHLRERHQVI 
       660        670        680        690        700
QTVHPVEKKL TYKCIHCLGV YTSNMTASTI TLHLVHCRGV GKTQNGQDKT 
       710        720        730        740        750
NAPSRLNQSP SLAPVKRTYE QMEFPLLKKR KLDDDSDSPS FFEEKPEEPV 
       760        770        780        790        800
VLALDPKGHE DDSYEARKSF LTKYFNKQPY PTRREIEKLA ASLWLWKSDI 
       810        820        830        840        850
ASHFSNKRKK CVRDCEKYKP GVLLGFNMKE LNKVKHEMDF DAEWLFENHD 
       860        870        880        890        900
EKDSRVNASK TADKKLNLGK EDDSSSDSFE NLEEESNESG SPFDPVFEVE 
       910        920        930        940        950
PKISNDNPEE HVLKVIPEDA SESEEKLDQK EDGSKYETIH LTEEPTKLMH 
       960        970        980        990       1000
NASDSEVDQD DVVEWKDGAS PSESGPGSQQ VSDFEDNTCE MKPGTWSDES 
      1010       1020       1030       1040       1050
SQSEDARSSK PAAKKKATMQ GDREQLKWKN SSYGKVEGFW SKDQSQWKNA 
      1060       1070       1080       1090       1100
SENDERLSNP QIEWQNSTID SEDGEQFDNM TDGVAEPMHG SLAGVKLSSQ 

QA
Length:1,102
Mass (Da):123,563
Last modified:March 1, 2001 - v1
<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:i4132E3EF814AF43B
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y6X0A0A2R8Y6X0_HUMAN
Activity-dependent neuroprotector h...
ADNP
874Annotation 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>
A0A669KBJ7A0A669KBJ7_HUMAN
Activity-dependent neuroprotector h...
ADNP
1,174Annotation 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>
A0A2R8YCL6A0A2R8YCL6_HUMAN
Activity-dependent neuroprotector h...
ADNP
111Annotation 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>

Natural variant

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_0786961094G → V Found in a patient with autism; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs780706686Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF250860 mRNA Translation: AAG47651.1
AL034553 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75611.1
CH471077 Genomic DNA Translation: EAW75612.1
BC090933 mRNA Translation: AAH90933.1
AB018327 mRNA Translation: BAA34504.1
AL080163 mRNA Translation: CAB45752.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS13433.1

Protein sequence database of the Protein Information Resource

More...PIRi		T12546

NCBI Reference Sequences

More...RefSeqi		NP_001269460.1, NM_001282531.2
NP_001269461.1, NM_001282532.1
NP_001334440.1, NM_001347511.1
NP_056154.1, NM_015339.4
NP_852107.1, NM_181442.3
XP_011527049.1, XM_011528747.2
XP_016883247.1, XM_017027758.1
XP_016883248.1, XM_017027759.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000349014; ENSP00000342905; ENSG00000101126
ENST00000371602; ENSP00000360662; ENSG00000101126
ENST00000396029; ENSP00000379346; ENSG00000101126
ENST00000396032; ENSP00000379349; ENSG00000101126
ENST00000621696; ENSP00000483881; ENSG00000101126

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23394

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23394

UCSC genome browser

More...UCSCi		uc002xvt.3, human

<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
AF250860 mRNA Translation: AAG47651.1
AL034553 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75611.1
CH471077 Genomic DNA Translation: EAW75612.1
BC090933 mRNA Translation: AAH90933.1
AB018327 mRNA Translation: BAA34504.1
AL080163 mRNA Translation: CAB45752.1
CCDSiCCDS13433.1
PIRiT12546
RefSeqiNP_001269460.1, NM_001282531.2
NP_001269461.1, NM_001282532.1
NP_001334440.1, NM_001347511.1
NP_056154.1, NM_015339.4
NP_852107.1, NM_181442.3
XP_011527049.1, XM_011528747.2
XP_016883247.1, XM_017027758.1
XP_016883248.1, XM_017027759.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi116967, 86 interactors
DIPiDIP-47288N
IntActiQ9H2P0, 45 interactors
MINTiQ9H2P0
STRINGi9606.ENSP00000379346

PTM databases

GlyConnecti2014, 1 N-Linked glycan (1 site)
GlyGeniQ9H2P0, 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)
iPTMnetiQ9H2P0
MetOSiteiQ9H2P0
PhosphoSitePlusiQ9H2P0
SwissPalmiQ9H2P0

Genetic variation databases

BioMutaiADNP
DMDMi24636245

Proteomic databases

EPDiQ9H2P0
jPOSTiQ9H2P0
MassIVEiQ9H2P0
MaxQBiQ9H2P0
PaxDbiQ9H2P0
PeptideAtlasiQ9H2P0
PRIDEiQ9H2P0
ProteomicsDBi80571

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		1423, 329 antibodies

Genome annotation databases

EnsembliENST00000349014; ENSP00000342905; ENSG00000101126
ENST00000371602; ENSP00000360662; ENSG00000101126
ENST00000396029; ENSP00000379346; ENSG00000101126
ENST00000396032; ENSP00000379349; ENSG00000101126
ENST00000621696; ENSP00000483881; ENSG00000101126
GeneIDi23394
KEGGihsa:23394
UCSCiuc002xvt.3, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		23394
DisGeNETi23394

GeneCards: human genes, protein and diseases

More...GeneCardsi		ADNP
GeneReviewsiADNP
HGNCiHGNC:15766, ADNP
HPAiENSG00000101126, Low tissue specificity
MalaCardsiADNP
MIMi611386, gene
615873, phenotype
neXtProtiNX_Q9H2P0
OpenTargetsiENSG00000101126
Orphaneti404448, ADNP syndrome
PharmGKBiPA24582
VEuPathDBiHostDB:ENSG00000101126.15

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QSYX, Eukaryota
GeneTreeiENSGT00530000063631
HOGENOMiCLU_009119_0_0_1
InParanoidiQ9H2P0
OMAiVYIKHTS
OrthoDBi135860at2759
PhylomeDBiQ9H2P0
TreeFamiTF328818

Enzyme and pathway databases

PathwayCommonsiQ9H2P0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23394, 107 hits in 899 CRISPR screens

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

More...ChiTaRSi		ADNP, human

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

More...GenomeRNAii		23394
PharosiQ9H2P0, Tbio

Protein Ontology

More...PROi		PR:Q9H2P0
RNActiQ9H2P0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000101126, Expressed in female gonad and 250 other tissues
ExpressionAtlasiQ9H2P0, baseline and differential
GenevisibleiQ9H2P0, HS

Family and domain databases

CDDicd00086, homeodomain, 1 hit
InterProiView protein in InterPro
IPR038861, ADNP/ADNP2
IPR009057, Homeobox-like_sf
IPR001356, Homeobox_dom
IPR013087, Znf_C2H2_type
PANTHERiPTHR15740, PTHR15740, 1 hit
PfamiView protein in Pfam
PF00046, Homeodomain, 1 hit
SMARTiView protein in SMART
SM00389, HOX, 1 hit
SM00355, ZnF_C2H2, 8 hits
SUPFAMiSSF46689, SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS50071, HOMEOBOX_2, 1 hit
PS00028, ZINC_FINGER_C2H2_1, 1 hit
PS50157, ZINC_FINGER_C2H2_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiADNP_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: Q9H2P0
Secondary accession number(s): E1P5Y2
, O94881, Q5BKU2, Q9UG34
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 2002
Last sequence update: March 1, 2001
Last modified: February 10, 2021
This is version 180 of the entry and version 1 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

Reference proteome

Documents

  1. Human variants curated from literature reports
    Index of human variants curated from literature reports
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  4. Human entries with genetic variants
    List of human entries with genetic variants
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