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Protein

ATPase family AAA domain-containing protein 5

Gene

ATAD5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in DNA damage response. Involved in a RAD9A-related damage checkpoint, a pathway that is important in determining whether DNA damage is compatible with cell survival or whether it requires cell elimination by apoptosis. Modulates the RAD9A interaction with BCL2 and thereby induces DNA damages-induced apoptosis.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi1132 – 1139ATPSequence analysis8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

DNA damage

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176208-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
ATPase family AAA domain-containing protein 5
Alternative name(s):
Chromosome fragility-associated gene 1 protein
Gene namesi
Name:ATAD5
Synonyms:C17orf41, FRAG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:25752. ATAD5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1169S → A: No effect on the RAD9A interaction after MMS exposure. Resists to DNA damage after MMS exposure. 1 Publication1
Mutagenesisi1187S → A: Weakly affects the RAD9A interaction after MMS exposure. 1 Publication1
Mutagenesisi1430C → G: Abolishes RB1 binding. Abolishes RB1 binding; when associated with K-1432. Weakly detected after methyl methane-sulfonate (MMS) treatment. Expression detected after MMS treatment; when associated with K-1432. Weakly affects the RAD9A interaction after MMS exposure. No effect on the RAD9A interaction after MMS exposure; when associated with K-1432. Resists to DNA damage after MMS exposure; when associated with K-1432. 1 Publication1
Mutagenesisi1432E → K: Abolishes RB1 binding; when associated with G-1430. Expression detected after methyl methane-sulfonate (MMS) treatment; when associated with G-1430. No effect on the RAD9A interaction after MMS exposure; when associated with G-1430. Resists to DNA damage after MMS exposure; when associated with G-1430. 1 Publication1

Organism-specific databases

DisGeNETi79915.
OpenTargetsiENSG00000176208.
PharmGKBiPA162377100.

Chemistry databases

ChEMBLiCHEMBL1741209.

Polymorphism and mutation databases

BioMutaiATAD5.
DMDMi296439460.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003176181 – 1844ATPase family AAA domain-containing protein 5Add BLAST1844

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineCombined sources1
Modified residuei219PhosphoserineCombined sources1
Modified residuei306PhosphoserineCombined sources1
Modified residuei311PhosphoserineCombined sources1
Modified residuei354PhosphoserineBy similarity1
Modified residuei369PhosphoserineCombined sources1
Modified residuei602PhosphoserineCombined sources1
Modified residuei614PhosphoserineCombined sources1
Modified residuei621PhosphoserineCombined sources1
Modified residuei817PhosphoserineCombined sources1
Modified residuei1116PhosphoserineCombined sources1

Post-translational modificationi

ATR may stimulate the RAD9A dissociation.

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ96QE3.
MaxQBiQ96QE3.
PaxDbiQ96QE3.
PeptideAtlasiQ96QE3.
PRIDEiQ96QE3.

PTM databases

iPTMnetiQ96QE3.
PhosphoSitePlusiQ96QE3.

Expressioni

Gene expression databases

BgeeiENSG00000176208.
CleanExiHS_ATAD5.
ExpressionAtlasiQ96QE3. baseline and differential.
GenevisibleiQ96QE3. HS.

Interactioni

Subunit structurei

Interacts with RB1 predominantly in G1 phase via its LXCXE motif. Interacts with RAD9A in growing cells. The interaction with RAD9A is reduced after exposure to DNA replication-inhibiting agents. Interacts with BRD4.2 Publications

Protein-protein interaction databases

BioGridi122994. 15 interactors.
IntActiQ96QE3. 6 interactors.
STRINGi9606.ENSP00000313171.

Structurei

3D structure databases

ProteinModelPortaliQ96QE3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi1428 – 1432LXCXE motif5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1589 – 1599Poly-SerAdd BLAST11

Sequence similaritiesi

Belongs to the AAA ATPase family.Curated

Phylogenomic databases

eggNOGiKOG1968. Eukaryota.
ENOG410YF58. LUCA.
GeneTreeiENSGT00730000111103.
HOGENOMiHOG000034121.
HOVERGENiHBG101177.
InParanoidiQ96QE3.
OMAiLWHLKPP.
OrthoDBiEOG091G10DK.
PhylomeDBiQ96QE3.
TreeFamiTF329112.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q96QE3-1) [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
MVGVLAMAAA AAPPPVKDCE IEPCKKRKKD DDTSTCKTIT KYLSPLGKTR
60 70 80 90 100
DRVFAPPKPS NILDYFRKTS PTNEKTQLGK ECKIKSPESV PVDSNKDCTT
110 120 130 140 150
PLEMFSNVEF KKKRKRVNLS HQLNNIKTEN EAPIEISSDD SKEDYSLNND
160 170 180 190 200
FVESSTSVLR YKKQVEVLAE NIQDTKSQPN TMTSLQNSKK VNPKQGTTKN
210 220 230 240 250
DFKKLRKRKC RDVVDLSESL PLAEELNLLK KDGKDTKQME NTTSHANSRD
260 270 280 290 300
NVTEAAQLND SIITVSYEEF LKSHKENKVE EIPDSTMSIC VPSETVDEIV
310 320 330 340 350
KSGYISESEN SEISQQVRFK TVTVLAQVHP IPPKKTGKIP RIFLKQKQFE
360 370 380 390 400
MENSLSDPEN EQTVQKRKSN VVIQEEELEL AVLEAGSSEA VKPKCTLEER
410 420 430 440 450
QQFMKAFRQP ASDALKNGVK KSSDKQKDLN EKCLYEVGRD DNSKKIMENS
460 470 480 490 500
GIQMVSKNGN LQLHTDKGSF LKEKNKKLKK KNKKTLDTGA IPGKNREGNT
510 520 530 540 550
QKKETTFFLK EKQYQNRMSL RQRKTEFFKS STLFNNESLV YEDIANDDLL
560 570 580 590 600
KVSSLCNNNK LSRKTSIPVK DIKLTQSKAE SEASLLNVST PKSTRRSGRI
610 620 630 640 650
SSTPTTETIR GIDSDDVQDN SQLKASTQKA ANLSEKHSLY TAELITVPFD
660 670 680 690 700
SESPIRMKFT RISTPKKSKK KSNKRSEKSE ATDGGFTSQI RKASNTSKNI
710 720 730 740 750
SKAKQLIEKA KALHISRSKV TEEIAIPLRR SSRHQTLPER KKLSETEDSV
760 770 780 790 800
IIIDSSPTAL KHPEKNQKKL QCLNDVLGKK LNTSTKNVPG KMKVAPLFLV
810 820 830 840 850
RKAQKAADPV PSFDESSQDT SEKSQDCDVQ CKAKRDFLMS GLPDLLKRQI
860 870 880 890 900
AKKAAALDVY NAVSTSFQRV VHVQQKDDGC CLWHLKPPSC PLLTKFKELN
910 920 930 940 950
TKVIDLSKCG IALGEFSTLN SKLKSGNSAA VFMRTRKEFT EEVRNLLLEE
960 970 980 990 1000
IRWSNPEFSL KKYFPLLLKK QIEHQVLSSE CHSKQELEAD VSHKETKRKL
1010 1020 1030 1040 1050
VEAENSKSKR KKPNEYSKNL EKTNRKSEEL SKRNNSSGIK LDSSKDSGTE
1060 1070 1080 1090 1100
DMLWTEKYQP QTASELIGNE LAIKKLHSWL KDWKRRAELE ERQNLKGKRD
1110 1120 1130 1140 1150
EKHEDFSGGI DFKGSSDDEE ESRLCNTVLI TGPTGVGKTA AVYACAQELG
1160 1170 1180 1190 1200
FKIFEVNASS QRSGRQILSQ LKEATQSHQV DKQGVNSQKP CFFNSYYIGK
1210 1220 1230 1240 1250
SPKKISSPKK VVTSPRKVPP PSPKSSGPKR ALPPKTLANY FKVSPKPKNN
1260 1270 1280 1290 1300
EEIGMLLENN KGIKNSFEQK QITQTKSTNA TNSNVKDVGA EEPSRKNATS
1310 1320 1330 1340 1350
LILFEEVDVI FDEDAGFLNA IKTFMATTKR PVILTTSDPT FSLMFDGCFE
1360 1370 1380 1390 1400
EIKFSTPSLL NVASYLQMIC LTENFRTDVK DFVTLLTANT CDIRKSILYL
1410 1420 1430 1440 1450
QFWIRSGGGV LEERPLTLYR GNSRNVQLVC SEHGLDNKIY PKNTKKKRVD
1460 1470 1480 1490 1500
LPKCDSGCAE TLFGLKNIFS PSEDLFSFLK HKITMKEEWH KFIQLLTEFQ
1510 1520 1530 1540 1550
MRNVDFLYSN LEFILPLPVD TIPETKNFCG PSVTVDASAA TKSMNCLARK
1560 1570 1580 1590 1600
HSEREQPLKK SQKKKQKKTL VILDDSDLFD TDLDFPDQSI SLSSVSSSSN
1610 1620 1630 1640 1650
AEESKTGDEE SKARDKGNNP ETKKSIPCPP KTTAGKKCSA LVSHCLNSLS
1660 1670 1680 1690 1700
EFMDNMSFLD ALLTDVREQN KYGRNDFSWT NGKVTSGLCD EFSLESNDGW
1710 1720 1730 1740 1750
TSQSSGELKA AAEALSFTKC SSAISKALET LNSCKKLGRD PTNDLTFYVS
1760 1770 1780 1790 1800
QKRNNVYFSQ SAANLDNAWK RISVIKSVFS SRSLLYVGNR QASIIEYLPT
1810 1820 1830 1840
LRNICKTEKL KEQGKSKRRF LHYFEGIHLD IPKETVNTLA ADFP
Length:1,844
Mass (Da):207,570
Last modified:May 18, 2010 - v4
Checksum:iA09A3C76CFC77BD1
GO
Isoform 2 (identifier: Q96QE3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1205-1844: Missing.

Note: No experimental confirmation available.
Show »
Length:1,204
Mass (Da):135,878
Checksum:iC3AA49F312542EED
GO

Sequence cautioni

The sequence AAH15051 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAB14248 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti95N → D in CAH10412 (PubMed:17974005).Curated1
Sequence conflicti465T → A in CAH10412 (PubMed:17974005).Curated1
Sequence conflicti475N → D in BAB14248 (PubMed:14702039).Curated1
Sequence conflicti612I → T in CAH10412 (PubMed:17974005).Curated1
Sequence conflicti1203K → S in BAB14248 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03857235T → S.Corresponds to variant rs9910051dbSNPEnsembl.1
Natural variantiVAR_03857387P → S.Corresponds to variant rs3816780dbSNPEnsembl.1
Natural variantiVAR_038574135E → G.1 PublicationCorresponds to variant rs11080134dbSNPEnsembl.1
Natural variantiVAR_038575249R → K.Corresponds to variant rs17826219dbSNPEnsembl.1
Natural variantiVAR_038576699N → H.Corresponds to variant rs3764421dbSNPEnsembl.1
Natural variantiVAR_0385771419Y → H.Corresponds to variant rs11657270dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0310971205 – 1844Missing in isoform 2. 1 PublicationAdd BLAST640

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ314648 mRNA. Translation: CAC44537.2.
AY557611 mRNA. Translation: AAT52049.1.
AL832103 mRNA. Translation: CAH10412.1.
BC015051 mRNA. Translation: AAH15051.1. Sequence problems.
AK022797 mRNA. Translation: BAB14248.1. Different initiation.
AC127024 Genomic DNA. No translation available.
AC130324 Genomic DNA. No translation available.
CCDSiCCDS11260.1. [Q96QE3-1]
RefSeqiNP_079133.3. NM_024857.4. [Q96QE3-1]
UniGeneiHs.528902.

Genome annotation databases

EnsembliENST00000321990; ENSP00000313171; ENSG00000176208. [Q96QE3-1]
GeneIDi79915.
KEGGihsa:79915.
UCSCiuc002hfs.2. human. [Q96QE3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ314648 mRNA. Translation: CAC44537.2.
AY557611 mRNA. Translation: AAT52049.1.
AL832103 mRNA. Translation: CAH10412.1.
BC015051 mRNA. Translation: AAH15051.1. Sequence problems.
AK022797 mRNA. Translation: BAB14248.1. Different initiation.
AC127024 Genomic DNA. No translation available.
AC130324 Genomic DNA. No translation available.
CCDSiCCDS11260.1. [Q96QE3-1]
RefSeqiNP_079133.3. NM_024857.4. [Q96QE3-1]
UniGeneiHs.528902.

3D structure databases

ProteinModelPortaliQ96QE3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122994. 15 interactors.
IntActiQ96QE3. 6 interactors.
STRINGi9606.ENSP00000313171.

Chemistry databases

ChEMBLiCHEMBL1741209.

PTM databases

iPTMnetiQ96QE3.
PhosphoSitePlusiQ96QE3.

Polymorphism and mutation databases

BioMutaiATAD5.
DMDMi296439460.

Proteomic databases

EPDiQ96QE3.
MaxQBiQ96QE3.
PaxDbiQ96QE3.
PeptideAtlasiQ96QE3.
PRIDEiQ96QE3.

Protocols and materials databases

DNASUi79915.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000321990; ENSP00000313171; ENSG00000176208. [Q96QE3-1]
GeneIDi79915.
KEGGihsa:79915.
UCSCiuc002hfs.2. human. [Q96QE3-1]

Organism-specific databases

CTDi79915.
DisGeNETi79915.
GeneCardsiATAD5.
HGNCiHGNC:25752. ATAD5.
MIMi609534. gene.
neXtProtiNX_Q96QE3.
OpenTargetsiENSG00000176208.
PharmGKBiPA162377100.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1968. Eukaryota.
ENOG410YF58. LUCA.
GeneTreeiENSGT00730000111103.
HOGENOMiHOG000034121.
HOVERGENiHBG101177.
InParanoidiQ96QE3.
OMAiLWHLKPP.
OrthoDBiEOG091G10DK.
PhylomeDBiQ96QE3.
TreeFamiTF329112.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000176208-MONOMER.

Miscellaneous databases

ChiTaRSiATAD5. human.
GenomeRNAii79915.
PROiQ96QE3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000176208.
CleanExiHS_ATAD5.
ExpressionAtlasiQ96QE3. baseline and differential.
GenevisibleiQ96QE3. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF00004. AAA. 1 hit.
[Graphical view]
SMARTiSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
ProtoNetiSearch...

Entry informationi

Entry nameiATAD5_HUMAN
AccessioniPrimary (citable) accession number: Q96QE3
Secondary accession number(s): Q05DH0, Q69YR6, Q9H9I1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 5, 2008
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 125 of the entry and version 4 of the sequence. [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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.