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Protein

ATPase family AAA domain-containing protein 1

Gene

ATAD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

ATPase that plays a critical role in regulating the surface expression of AMPA receptors (AMPAR), thereby regulating synaptic plasticity and learning and memory. Required for NMDA-stimulated AMPAR internalization and inhibition of GRIA1 and GRIA2 recycling back to the plasma membrane; these activities are ATPase-dependent (By similarity).By similarity

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi133 – 140ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionHydrolase
LigandATP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
ATPase family AAA domain-containing protein 1 (EC:3.6.1.3)
Alternative name(s):
Thorase
Gene namesi
Name:ATAD1
ORF Names:FNP001
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000138138.13
HGNCiHGNC:25903 ATAD1
MIMi614452 gene
neXtProtiNX_Q8NBU5

Subcellular locationi

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

Keywords - Cellular componenti

Cell junction, Cell membrane, Membrane, Peroxisome, Postsynaptic cell membrane, Synapse

Pathology & Biotechi

Involvement in diseasei

Hyperekplexia 4 (HKPX4)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive severe neurologic disorder apparent from birth. HKPX4 is characterized by little if any development, hypertonia, early-onset refractory seizures in some patients, and respiratory failure resulting in early death, mostly in the first months of life.
See also OMIM:618011
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08083054Q → H in HKPX4; unknown pathological significance; likely affects splicing due to removal of the splice donor site of intron 2. 1 Publication1
Natural variantiVAR_080831276 – 361Missing in HKPX4; severely decreased ATAD1 mRNA expression in lymphoblastoid cells derived from the patient compared to an unaffected control. 1 PublicationAdd BLAST86

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi84896
MalaCardsiATAD1
MIMi618011 phenotype
OpenTargetsiENSG00000138138
Orphaneti3197 Hereditary hyperekplexia
PharmGKBiPA134914940

Polymorphism and mutation databases

BioMutaiATAD1
DMDMi74762551

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000847911 – 361ATPase family AAA domain-containing protein 1Add BLAST361

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei322PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8NBU5
MaxQBiQ8NBU5
PaxDbiQ8NBU5
PeptideAtlasiQ8NBU5
PRIDEiQ8NBU5
ProteomicsDBi72823
72824 [Q8NBU5-2]

PTM databases

iPTMnetiQ8NBU5
PhosphoSitePlusiQ8NBU5
SwissPalmiQ8NBU5

Expressioni

Gene expression databases

BgeeiENSG00000138138 Expressed in 209 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_ATAD1
GenevisibleiQ8NBU5 HS

Organism-specific databases

HPAiHPA037569

Interactioni

Subunit structurei

Interacts with GRIA2 and GRIP1 in an ATP-dependent manner. ATAD1-catalyzed ATP hydrolysis disrupts not only its binding to GRIA2 and GRIP1, but also interaction between GRIP1 and GRIA2, leading to AMPAR complex disassembly (By similarity).By similarity

Protein-protein interaction databases

BioGridi124336, 21 interactors
IntActiQ8NBU5, 14 interactors
MINTiQ8NBU5
STRINGi9606.ENSP00000339016

Structurei

3D structure databases

ProteinModelPortaliQ8NBU5
SMRiQ8NBU5
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the AAA ATPase family.Curated

Phylogenomic databases

eggNOGiKOG0737 Eukaryota
COG0464 LUCA
GeneTreeiENSGT00550000074823
HOVERGENiHBG057074
InParanoidiQ8NBU5
KOiK22530
OMAiTRFINLD
OrthoDBiEOG091G0CJ6
PhylomeDBiQ8NBU5
TreeFamiTF105016

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00004 AAA, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8NBU5-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MVHAEAFSRP LSRNEVVGLI FRLTIFGAVT YFTIKWMVDA IDPTRKQKVE
60 70 80 90 100
AQKQAEKLMK QIGVKNVKLS EYEMSIAAHL VDPLNMHVTW SDIAGLDDVI
110 120 130 140 150
TDLKDTVILP IKKKHLFENS RLLQPPKGVL LYGPPGCGKT LIAKATAKEA
160 170 180 190 200
GCRFINLQPS TLTDKWYGES QKLAAAVFSL AIKLQPSIIF IDEIDSFLRN
210 220 230 240 250
RSSSDHEATA MMKAQFMSLW DGLDTDHSCQ VIVMGATNRP QDLDSAIMRR
260 270 280 290 300
MPTRFHINQP ALKQREAILK LILKNENVDR HVDLLEVAQE TDGFSGSDLK
310 320 330 340 350
EMCRDAALLC VREYVNSTSE ESHDEDEIRP VQQQDLHRAI EKMKKSKDAA
360
FQNVLTHVCL D
Length:361
Mass (Da):40,744
Last modified:October 1, 2002 - v1
Checksum:i2FAE88BA7E7140BC
GO
Isoform 2 (identifier: Q8NBU5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     278-361: VDRHVDLLEV...QNVLTHVCLD → LRKLKPREVL

Show »
Length:287
Mass (Da):32,408
Checksum:i9081A083DE9D1FAD
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti160S → R in AAL57218 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08083054Q → H in HKPX4; unknown pathological significance; likely affects splicing due to removal of the splice donor site of intron 2. 1 Publication1
Natural variantiVAR_035903107V → I in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_080831276 – 361Missing in HKPX4; severely decreased ATAD1 mRNA expression in lymphoblastoid cells derived from the patient compared to an unaffected control. 1 PublicationAdd BLAST86

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_037304278 – 361VDRHV…HVCLD → LRKLKPREVL in isoform 2. 1 PublicationAdd BLAST84

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF361493 mRNA Translation: AAL57218.1
AK027506 mRNA Translation: BAB55161.1
AK075223 mRNA Translation: BAC11482.1
AC022016 Genomic DNA No translation available.
AL133327 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50180.1
CH471066 Genomic DNA Translation: EAW50177.1
CH471066 Genomic DNA Translation: EAW50179.1
BC010868 mRNA Translation: AAH10868.1
BC063530 mRNA Translation: AAH63530.1
BC073998 mRNA Translation: AAH73998.1
AL834370 mRNA Translation: CAD39033.1
CCDSiCCDS7386.1 [Q8NBU5-1]
RefSeqiNP_001308896.1, NM_001321967.1 [Q8NBU5-1]
NP_116199.2, NM_032810.3 [Q8NBU5-1]
XP_005270309.1, XM_005270252.4 [Q8NBU5-1]
XP_016872336.1, XM_017016847.1 [Q8NBU5-1]
UniGeneiHs.435948

Genome annotation databases

EnsembliENST00000308448; ENSP00000339017; ENSG00000138138 [Q8NBU5-1]
ENST00000328142; ENSP00000339016; ENSG00000138138 [Q8NBU5-1]
ENST00000634773; ENSP00000489353; ENSG00000283024 [Q8NBU5-1]
ENST00000634970; ENSP00000489455; ENSG00000283024 [Q8NBU5-1]
GeneIDi84896
KEGGihsa:84896
UCSCiuc001key.2 human [Q8NBU5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF361493 mRNA Translation: AAL57218.1
AK027506 mRNA Translation: BAB55161.1
AK075223 mRNA Translation: BAC11482.1
AC022016 Genomic DNA No translation available.
AL133327 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW50180.1
CH471066 Genomic DNA Translation: EAW50177.1
CH471066 Genomic DNA Translation: EAW50179.1
BC010868 mRNA Translation: AAH10868.1
BC063530 mRNA Translation: AAH63530.1
BC073998 mRNA Translation: AAH73998.1
AL834370 mRNA Translation: CAD39033.1
CCDSiCCDS7386.1 [Q8NBU5-1]
RefSeqiNP_001308896.1, NM_001321967.1 [Q8NBU5-1]
NP_116199.2, NM_032810.3 [Q8NBU5-1]
XP_005270309.1, XM_005270252.4 [Q8NBU5-1]
XP_016872336.1, XM_017016847.1 [Q8NBU5-1]
UniGeneiHs.435948

3D structure databases

ProteinModelPortaliQ8NBU5
SMRiQ8NBU5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124336, 21 interactors
IntActiQ8NBU5, 14 interactors
MINTiQ8NBU5
STRINGi9606.ENSP00000339016

PTM databases

iPTMnetiQ8NBU5
PhosphoSitePlusiQ8NBU5
SwissPalmiQ8NBU5

Polymorphism and mutation databases

BioMutaiATAD1
DMDMi74762551

Proteomic databases

EPDiQ8NBU5
MaxQBiQ8NBU5
PaxDbiQ8NBU5
PeptideAtlasiQ8NBU5
PRIDEiQ8NBU5
ProteomicsDBi72823
72824 [Q8NBU5-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000308448; ENSP00000339017; ENSG00000138138 [Q8NBU5-1]
ENST00000328142; ENSP00000339016; ENSG00000138138 [Q8NBU5-1]
ENST00000634773; ENSP00000489353; ENSG00000283024 [Q8NBU5-1]
ENST00000634970; ENSP00000489455; ENSG00000283024 [Q8NBU5-1]
GeneIDi84896
KEGGihsa:84896
UCSCiuc001key.2 human [Q8NBU5-1]

Organism-specific databases

CTDi84896
DisGeNETi84896
EuPathDBiHostDB:ENSG00000138138.13
GeneCardsiATAD1
HGNCiHGNC:25903 ATAD1
HPAiHPA037569
MalaCardsiATAD1
MIMi614452 gene
618011 phenotype
neXtProtiNX_Q8NBU5
OpenTargetsiENSG00000138138
Orphaneti3197 Hereditary hyperekplexia
PharmGKBiPA134914940
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0737 Eukaryota
COG0464 LUCA
GeneTreeiENSGT00550000074823
HOVERGENiHBG057074
InParanoidiQ8NBU5
KOiK22530
OMAiTRFINLD
OrthoDBiEOG091G0CJ6
PhylomeDBiQ8NBU5
TreeFamiTF105016

Miscellaneous databases

ChiTaRSiATAD1 human
GenomeRNAii84896
PROiPR:Q8NBU5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000138138 Expressed in 209 organ(s), highest expression level in epithelial cell of pancreas
CleanExiHS_ATAD1
GenevisibleiQ8NBU5 HS

Family and domain databases

InterProiView protein in InterPro
IPR003593 AAA+_ATPase
IPR003959 ATPase_AAA_core
IPR003960 ATPase_AAA_CS
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF00004 AAA, 1 hit
SMARTiView protein in SMART
SM00382 AAA, 1 hit
SUPFAMiSSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00674 AAA, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiATAD1_HUMAN
AccessioniPrimary (citable) accession number: Q8NBU5
Secondary accession number(s): D3DR26
, Q6DKG1, Q6P4B9, Q8N3G1, Q8WYR9, Q969Y3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 141 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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