Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 173 (16 Oct 2019)
Sequence version 2 (13 Sep 2005)
Previous versions | rss
Help videoAdd a publicationFeedback
Protein

ATPase family AAA domain-containing protein 3A

Gene

ATAD3A

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

Essential for mitochondrial network organization, mitochondrial metabolism and cell growth at organism and cellular level. May play an important role in mitochondrial protein synthesis. May also participate in mitochondrial DNA replication. May bind to mitochondrial DNA D-loops and contribute to nucleoid stability. Required for enhanced channeling of cholesterol for hormone-dependent steroidogenesis.3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi400 – 407ATPSequence analysis8

<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

LigandATP-binding, Nucleotide-binding

<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:
ATPase family AAA domain-containing protein 3AImported
<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:ATAD3AImported
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25567 ATAD3A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612316 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9NVI7

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini2 – 294Mitochondrial intermembraneSequence analysisAdd BLAST293
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei295 – 312HelicalSequence analysisAdd BLAST18
Topological domaini313 – 634Mitochondrial matrixSequence analysisAdd BLAST322

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion nucleoid

<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

Harel-Yoon syndrome (HAYOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. Some patients have optic atrophy and hypertrophic cardiomyopathy. HAYOS inheritance can be autosomal dominant or autosomal recessive.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi341V → S: Loss of S100B-binding; when associated with S-345. 1 Publication1
Mutagenesisi345L → S: Loss of S100B-binding; when associated with S-341. 1 Publication1
Mutagenesisi349 – 350Missing : Decrease in S100B-binding. 1 Publication2
Mutagenesisi406K → E: No effect on homooligomerization. Immediate fragmentation of the mitochondrial network. 1 Publication1
Mutagenesisi459D → Q: No effect on homooligomerization. Immediate fragmentation of the mitochondrial network. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
55210

MalaCards human disease database

More...
MalaCardsi
ATAD3A
MIMi617183 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000197785

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

More...
Orphaneti
496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134872099

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NVI7

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ATAD3A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
84028405

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00000847992 – 634ATPase family AAA domain-containing protein 3AAdd BLAST633

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 residuei2N-acetylserine1 Publication1
Modified residuei369PhosphoserineCombined sources1
Modified residuei539N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9NVI7

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q9NVI7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q9NVI7

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q9NVI7

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

More...
PaxDbi
Q9NVI7

PeptideAtlas

More...
PeptideAtlasi
Q9NVI7

PRoteomics IDEntifications database

More...
PRIDEi
Q9NVI7

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
32346
82815 [Q9NVI7-1]
82816 [Q9NVI7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NVI7

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

More...
PhosphoSitePlusi
Q9NVI7

SwissPalm database of S-palmitoylation events

More...
SwissPalmi
Q9NVI7

<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

Overexpressed in lung adenocarcinomas (at protein level).1 Publication

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by Angiotensin/AGT.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000197785 Expressed in 201 organ(s), highest expression level in adenohypophysis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9NVI7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q9NVI7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA058968
HPA064867
HPA065305

<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

Can form homooligomers. Homodimer formation at the N-terminus may be regulated by ATP and is required for the interaction with the inner surface of the mitochondrial outer membrane and correct mitochondrial homeostasis.

Interacts with components of the mitochondrial ribosome and with other proteins involved in mitochondrial RNA metabolism. May also interact with protein involved in lipid metabolism, including STARD9. May interact with FAM210A.

Interacts with GADD45GIP1.

Interacts with S100B in a Ca(+2)- and Zn(+2)-dependent manner; this interaction probably occurs in the cytosol prior to mitochondrial targeting. S100B could assist ATAD3A cytoplasmic processing, preventing aggregation and favoring mitochondrial localization.

Interacts with HSP60/HSPD1. Forms heterooligomers with ATAD3B; this interaction may affect ATAD3A activity.

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
120506, 126 interactors

Database of interacting proteins

More...
DIPi
DIP-33194N

Protein interaction database and analysis system

More...
IntActi
Q9NVI7, 70 interactors

Molecular INTeraction database

More...
MINTi
Q9NVI7

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000368030

<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

3D structure databases

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

More...
SMRi
Q9NVI7

Database of comparative protein structure models

More...
ModBasei
Search...

<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>Regioni2 – 50Required for interaction with the inner surface of the mitochondrial outer membraneAdd BLAST49
Regioni338 – 353S100B-bindingAdd BLAST16

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili139 – 267Sequence analysisAdd BLAST129

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The transmembrane domain and a C-terminal adjacent region contain all information necessary for mitochondrial targeting.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the AAA ATPase family.Curated

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0742 Eukaryota
COG1223 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00730000111059

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231291

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9NVI7

KEGG Orthology (KO)

More...
KOi
K17681

Identification of Orthologs from Complete Genome Data

More...
OMAi
AEHSGMD

Database of Orthologous Groups

More...
OrthoDBi
357201at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9NVI7

TreeFam database of animal gene trees

More...
TreeFami
TF313922

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR003593 AAA+_ATPase
IPR039188 ATAD3
IPR003959 ATPase_AAA_core
IPR021911 DUF3523
IPR027417 P-loop_NTPase

The PANTHER Classification System

More...
PANTHERi
PTHR23075 PTHR23075, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00004 AAA, 1 hit
PF12037 DUF3523, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00382 AAA, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 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 (3+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <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 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NVI7-1) [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
MSWLFGINKG PKGEGAGPPP PLPPAQPGAE GGGDRGLGDR PAPKDKWSNF
60 70 80 90 100
DPTGLERAAK AARELEHSRY AKDALNLAQM QEQTLQLEQQ SKLKMRLEAL
110 120 130 140 150
SLLHTLVWAW SLCRAGAVQT QERLSGSASP EQVPAGECCA LQEYEAAVEQ
160 170 180 190 200
LKSEQIRAQA EERRKTLSEE TRQHQARAQY QDKLARQRYE DQLKQQQLLN
210 220 230 240 250
EENLRKQEES VQKQEAMRRA TVEREMELRH KNEMLRVEAE ARARAKAERE
260 270 280 290 300
NADIIREQIR LKAAEHRQTV LESIRTAGTL FGEGFRAFVT DWDKVTATVA
310 320 330 340 350
GLTLLAVGVY SAKNATLVAG RFIEARLGKP SLVRETSRIT VLEALRHPIQ
360 370 380 390 400
VSRRLLSRPQ DALEGVVLSP SLEARVRDIA IATRNTKKNR SLYRNILMYG
410 420 430 440 450
PPGTGKTLFA KKLALHSGMD YAIMTGGDVA PMGREGVTAM HKLFDWANTS
460 470 480 490 500
RRGLLLFVDE ADAFLRKRAT EKISEDLRAT LNAFLYRTGQ HSNKFMLVLA
510 520 530 540 550
SNQPEQFDWA INDRINEMVH FDLPGQEERE RLVRMYFDKY VLKPATEGKQ
560 570 580 590 600
RLKLAQFDYG RKCSEVARLT EGMSGREIAQ LAVSWQATAY ASEDGVLTEA
610 620 630
MMDTRVQDAV QQHQQKMCWL KAEGPGRGDE PSPS
Length:634
Mass (Da):71,369
Last modified:September 13, 2005 - v2
<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:i47E765629B6F3267
GO
Isoform 2 (identifier: Q9NVI7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     95-142: Missing.

Note: May be the predominant ATAD3A form.1 Publication
Show »
Length:586
Mass (Da):66,218
Checksum:i1E83D08AE33D550F
GO
Isoform 3 (identifier: Q9NVI7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: Missing.
     95-142: Missing.

Note: No experimental confirmation available.
Show »
Length:507
Mass (Da):57,948
Checksum:i759827DA09CDDC15
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y2W2H0Y2W2_HUMAN
ATPase family AAA domain-containing...
ATAD3A
572Annotation 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>
Q5SV16Q5SV16_HUMAN
ATPase family AAA domain-containing...
ATAD3A
201Annotation 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>

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 conflicti224R → Q in BAG51625 (PubMed:14702039).Curated1
Sequence conflicti255I → T in BAC03595 (PubMed:14702039).Curated1

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_02352615G → D1 PublicationCorresponds to variant dbSNP:rs2274435Ensembl.1
Natural variantiVAR_055468101S → N. Corresponds to variant dbSNP:rs1619896Ensembl.1
Isoform 2 (identifier: Q9NVI7-2)
Natural varianti53T → I in HAYOS) (Ref.19. 1 Publication1
Natural varianti528R → W in HAYOS) (Ref.19. 1 Publication1

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_0441451 – 79Missing in isoform 3. 1 PublicationAdd BLAST79
Alternative sequenceiVSP_01563695 – 142Missing in isoform 2 and isoform 3. 3 PublicationsAdd BLAST48

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
GU189416 mRNA Translation: ACZ80514.1
AK001571 mRNA Translation: BAA91764.1
AK056099 mRNA Translation: BAG51625.1
AK091144 mRNA Translation: BAC03595.1
AL645728 Genomic DNA No translation available.
CH471183 Genomic DNA Translation: EAW56187.1
CH471183 Genomic DNA Translation: EAW56190.1
BC007803 mRNA Translation: AAH07803.1
BC011814 mRNA Translation: AAH11814.1
BC014101 mRNA Translation: AAH14101.1
BC033109 mRNA Translation: AAH33109.1
BC063607 mRNA Translation: AAH63607.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS31.1 [Q9NVI7-1]
CCDS53259.1 [Q9NVI7-2]
CCDS53260.1 [Q9NVI7-3]

NCBI Reference Sequences

More...
RefSeqi
NP_001164006.1, NM_001170535.2 [Q9NVI7-2]
NP_001164007.1, NM_001170536.2 [Q9NVI7-3]
NP_060658.3, NM_018188.4 [Q9NVI7-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000378755; ENSP00000368030; ENSG00000197785 [Q9NVI7-1]
ENST00000378756; ENSP00000368031; ENSG00000197785 [Q9NVI7-2]
ENST00000536055; ENSP00000439290; ENSG00000197785 [Q9NVI7-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
55210

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:55210

UCSC genome browser

More...
UCSCi
uc001afz.3 human [Q9NVI7-1]

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
GU189416 mRNA Translation: ACZ80514.1
AK001571 mRNA Translation: BAA91764.1
AK056099 mRNA Translation: BAG51625.1
AK091144 mRNA Translation: BAC03595.1
AL645728 Genomic DNA No translation available.
CH471183 Genomic DNA Translation: EAW56187.1
CH471183 Genomic DNA Translation: EAW56190.1
BC007803 mRNA Translation: AAH07803.1
BC011814 mRNA Translation: AAH11814.1
BC014101 mRNA Translation: AAH14101.1
BC033109 mRNA Translation: AAH33109.1
BC063607 mRNA Translation: AAH63607.1
CCDSiCCDS31.1 [Q9NVI7-1]
CCDS53259.1 [Q9NVI7-2]
CCDS53260.1 [Q9NVI7-3]
RefSeqiNP_001164006.1, NM_001170535.2 [Q9NVI7-2]
NP_001164007.1, NM_001170536.2 [Q9NVI7-3]
NP_060658.3, NM_018188.4 [Q9NVI7-1]

3D structure databases

SMRiQ9NVI7
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120506, 126 interactors
DIPiDIP-33194N
IntActiQ9NVI7, 70 interactors
MINTiQ9NVI7
STRINGi9606.ENSP00000368030

PTM databases

iPTMnetiQ9NVI7
PhosphoSitePlusiQ9NVI7
SwissPalmiQ9NVI7

Polymorphism and mutation databases

BioMutaiATAD3A
DMDMi84028405

Proteomic databases

EPDiQ9NVI7
jPOSTiQ9NVI7
MassIVEiQ9NVI7
MaxQBiQ9NVI7
PaxDbiQ9NVI7
PeptideAtlasiQ9NVI7
PRIDEiQ9NVI7
ProteomicsDBi32346
82815 [Q9NVI7-1]
82816 [Q9NVI7-2]

Genome annotation databases

EnsembliENST00000378755; ENSP00000368030; ENSG00000197785 [Q9NVI7-1]
ENST00000378756; ENSP00000368031; ENSG00000197785 [Q9NVI7-2]
ENST00000536055; ENSP00000439290; ENSG00000197785 [Q9NVI7-3]
GeneIDi55210
KEGGihsa:55210
UCSCiuc001afz.3 human [Q9NVI7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
55210
DisGeNETi55210

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ATAD3A
HGNCiHGNC:25567 ATAD3A
HPAiHPA058968
HPA064867
HPA065305
MalaCardsiATAD3A
MIMi612316 gene
617183 phenotype
neXtProtiNX_Q9NVI7
OpenTargetsiENSG00000197785
Orphaneti496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome
PharmGKBiPA134872099

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0742 Eukaryota
COG1223 LUCA
GeneTreeiENSGT00730000111059
HOGENOMiHOG000231291
InParanoidiQ9NVI7
KOiK17681
OMAiAEHSGMD
OrthoDBi357201at2759
PhylomeDBiQ9NVI7
TreeFamiTF313922

Miscellaneous databases

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

More...
ChiTaRSi
ATAD3A human

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

More...
GenomeRNAii
55210
PharosiQ9NVI7

Protein Ontology

More...
PROi
PR:Q9NVI7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000197785 Expressed in 201 organ(s), highest expression level in adenohypophysis
ExpressionAtlasiQ9NVI7 baseline and differential
GenevisibleiQ9NVI7 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR039188 ATAD3
IPR003959 ATPase_AAA_core
IPR021911 DUF3523
IPR027417 P-loop_NTPase
PANTHERiPTHR23075 PTHR23075, 1 hit
PfamiView protein in Pfam
PF00004 AAA, 1 hit
PF12037 DUF3523, 2 hits
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 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 nameiATD3A_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: Q9NVI7
Secondary accession number(s): B3KPB3
, D2K8Q1, G3V1I6, Q5SV23, Q8N275, Q96A50
<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: September 13, 2005
Last sequence update: September 13, 2005
Last modified: October 16, 2019
This is version 173 of the entry and version 2 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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 1
    Human chromosome 1: 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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again