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Q5T9A4 (ATD3B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
ATPase family AAA domain-containing protein 3B
Alternative name(s):
AAA-TOB3
Gene names
Name:ATAD3B
Synonyms:KIAA1273, TOB3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length648 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in a mitochondrial network organization typical for stem cells, characterized by reduced mitochondrial metabolism, low mtDNA copies and fragmentated mitochondrial network. may act by suppressing ATAD3A function, interfering with ATAD3A interaction with matrix nucleoid complexes. Ref.10

Subunit structure

Forms heterooligomers with ATAD3A. Interacts with components of the mitochondrial ribosome, including MRPL11 and MRPS18B, and with other proteins involved in mitochondrial RNA metabolism, possibly via interaction with ATAD3A. Interacts with GADD45GIP1. Ref.10 Ref.12

Subcellular location

Mitochondrion inner membrane; Peripheral membrane protein. Note: Has been found to co-purify with nucleoids (Ref.12). Since it does not face the mitochondrial matrix, the association with nucleoids could be mediated by ATAD3A. Ref.6 Ref.7

Tissue specificity

Tends to be down-regulated in differentiated cells and re-expressed in pluripotent stem cells or cancer cells (at protein level). Ref.6 Ref.10

Developmental stage

Expressed in proliferating embryonic stem cells and down-regulated during differentiation. Ref.10

Induction

Up-regulated by MYC. Ref.6

Sequence similarities

Belongs to the AAA ATPase family.

Sequence caution

The sequence BAA86587.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
   Cellular componentMembrane
Mitochondrion
Mitochondrion inner membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   LigandATP-binding
Nucleotide-binding
   PTMAcetylation
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentmitochondrial inner membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

nucleoside-triphosphatase activity

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q5T9A4-1)

Also known as: AAA-TOB3l;

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.
Isoform 2 (identifier: Q5T9A4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.
     119-128: LSEETRQHQA → MCLCRPLLPQ
     252-284: AGLTLLAVGVYSAKNATAVTGRFIEARLGKPSL → NIFIKQGWQVAERQHVGASWSPRSCPCRLCTAL
     285-648: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q5T9A4-3)

Also known as: AAA-TOB3s;

The sequence of this isoform differs from the canonical sequence as follows:
     1-46: Missing.
     47-94: WSNFDPTGLE...LQLEQQSKLK → MQLEALNLLH...VPAGECCALQ

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Initiator methionine11Removed Ref.11
Chain2 – 648647ATPase family AAA domain-containing protein 3B
PRO_0000084800

Regions

Topological domain2 – 246245Mitochondrial intermembrane Potential
Intramembrane247 – 26418Helical; Potential
Topological domain265 – 648384Mitochondrial intermembrane Potential
Nucleotide binding352 – 3598ATP Potential
Coiled coil69 – 214146 Potential
Compositional bias18 – 247Poly-Pro

Amino acid modifications

Modified residue21N-acetylserine Ref.11
Modified residue4271N6-acetyllysine Ref.8

Natural variations

Alternative sequence1 – 118118Missing in isoform 2.
VSP_015637
Alternative sequence1 – 4646Missing in isoform 3.
VSP_015638
Alternative sequence47 – 9448WSNFD…QSKLK → MQLEALNLLHTLVWARSLCR AGAVQTQERLSGSASPEQVP AGECCALQ in isoform 3.
VSP_015639
Alternative sequence119 – 12810LSEETRQHQA → MCLCRPLLPQ in isoform 2.
VSP_015640
Alternative sequence252 – 28433AGLTL…GKPSL → NIFIKQGWQVAERQHVGASW SPRSCPCRLCTAL in isoform 2.
VSP_015641
Alternative sequence285 – 648364Missing in isoform 2.
VSP_015642
Natural variant71V → I.
Corresponds to variant rs1240504 [ dbSNP | Ensembl ].
VAR_048120

Experimental info

Sequence conflict1491Q → R in AAH02542. Ref.5
Sequence conflict1491Q → R in AAH18701. Ref.5
Sequence conflict1531E → V in AK128357. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (AAA-TOB3l) [UniParc].

Last modified December 21, 2004. Version 1.
Checksum: 5133DB55E3415707

FASTA64872,573
        10         20         30         40         50         60 
MSWLFGVNKG PKGEGAGPPP PLPPAQPGAE GGGDRGLGDR PAPKDKWSNF DPTGLERAAK 

        70         80         90        100        110        120 
AARELEHSRY AKEALNLAQM QEQTLQLEQQ SKLKEYEAAV EQLKSEQIRA QAEERRKTLS 

       130        140        150        160        170        180 
EETRQHQARA QYQDKLARQR YEDQLKQQQL LNEENLRKQE ESVQKQEAMR RATVEREMEL 

       190        200        210        220        230        240 
RHKNEMLRVE TEARARAKAE RENADIIREQ IRLKASEHRQ TVLESIRTAG TLFGEGFRAF 

       250        260        270        280        290        300 
VTDRDKVTAT VAGLTLLAVG VYSAKNATAV TGRFIEARLG KPSLVRETSR ITVLEALRHP 

       310        320        330        340        350        360 
IQVSRRLLSR PQDVLEGVVL SPSLEARVRD IAIATRNTKK NRGLYRHILL YGPPGTGKTL 

       370        380        390        400        410        420 
FAKKLALHSG MDYAIMTGGD VAPMGREGVT AMHKLFDWAN TSRRGLLLFM DEADAFLRKR 

       430        440        450        460        470        480 
ATEEISKDLR ATLNAFLYHM GQHSNKFMLV LASNLPEQFD CAINSRIDVM VHFDLPQQEE 

       490        500        510        520        530        540 
RERLVRLHFD NCVLKPATEG KRRLKLAQFD YGRKCSEVAR LTEGMSGREI AQLAVSWQAT 

       550        560        570        580        590        600 
AYASKDGVLT EAMMDACVQD AVQQYRQKMR WLKAEGPGRG VEHPLSGVQG ETLTSWSLAT 

       610        620        630        640 
DPSYPCLAGP CTFRICSWMG TGLCPGPLSP RMSCGGGRPF CPPGHPLL 

« Hide

Isoform 2 [UniParc].

Checksum: 15325B2EF9B86B13
Show »

FASTA16619,508
Isoform 3 (AAA-TOB3s) [UniParc].

Checksum: C787D0F1D620B06F
Show »

FASTA60267,608

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.
DNA Res. 6:337-345(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Thymus.
[3]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3).
Tissue: Leiomyosarcoma and Placenta.
[6]"Molecular characterization of the tumor-associated antigen AAA-TOB3."
Schaffrik M., Mack B., Matthias C., Rauch J., Gires O.
Cell. Mol. Life Sci. 63:2162-2174(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION OF ISOFORMS 1 AND 3, SUBCELLULAR LOCATION, INDUCTION, TISSUE SPECIFICITY.
[7]"The layered structure of human mitochondrial DNA nucleoids."
Bogenhagen D.F., Rousseau D., Burke S.
J. Biol. Chem. 283:3665-3675(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TOPOLOGY.
[8]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-427, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"ATAD3B is a human embryonic stem cell specific mitochondrial protein, re-expressed in cancer cells, that functions as dominant negative for the ubiquitous ATAD3A."
Merle N., Feraud O., Gilquin B., Hubstenberger A., Kieffer-Jacquinot S., Assard N., Bennaceur-Griscelli A., Honnorat J., Baudier J.
Mitochondrion 12:441-448(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INTERACTION WITH ATAD3A, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, TOPOLOGY.
[11]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT SER-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
[12]"Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis."
He J., Cooper H.M., Reyes A., Di Re M., Sembongi H., Litwin T.R., Gao J., Neuman K.C., Fearnley I.M., Spinazzola A., Walker J.E., Holt I.J.
Nucleic Acids Res. 40:6109-6121(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH PROTEINS INVOLVED IN MITOCHONDRIAL TRANSLATION; RNA METABOLISM; ATAD3A AND GADD45GIP1.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB033099 mRNA. Translation: BAA86587.1. Different initiation.
AK128357 mRNA. No translation available.
AK290586 mRNA. Translation: BAF83275.1.
AL157945 Genomic DNA. Translation: CAI22068.1.
CH471183 Genomic DNA. Translation: EAW56193.1.
BC002542 mRNA. Translation: AAH02542.1.
BC009938 mRNA. No translation available.
BC018701 mRNA. Translation: AAH18701.1.
CCDSCCDS30.1. [Q5T9A4-1]
RefSeqNP_114127.3. NM_031921.4. [Q5T9A4-1]
UniGeneHs.729021.

3D structure databases

ProteinModelPortalQ5T9A4.
SMRQ5T9A4. Positions 289-571.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123774. 24 interactions.
IntActQ5T9A4. 11 interactions.
STRING9606.ENSP00000311766.

PTM databases

PhosphoSiteQ5T9A4.

Polymorphism databases

DMDM74745646.

Proteomic databases

MaxQBQ5T9A4.
PaxDbQ5T9A4.
PRIDEQ5T9A4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000308647; ENSP00000311766; ENSG00000160072. [Q5T9A4-1]
GeneID83858.
KEGGhsa:83858.
UCSCuc001afv.3. human. [Q5T9A4-1]
uc001afw.2. human. [Q5T9A4-2]
uc001afx.3. human. [Q5T9A4-3]

Organism-specific databases

CTD83858.
GeneCardsGC01P001397.
HGNCHGNC:24007. ATAD3B.
HPAHPA058968.
MIM612317. gene.
neXtProtNX_Q5T9A4.
PharmGKBPA134993325.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0465.
HOGENOMHOG000231291.
HOVERGENHBG058506.
InParanoidQ5T9A4.
KOK17681.
OMADNCVLKP.
OrthoDBEOG7J9VP8.
PhylomeDBQ5T9A4.
TreeFamTF313922.

Gene expression databases

ArrayExpressQ5T9A4.
BgeeQ5T9A4.
CleanExHS_ATAD3B.
GenevestigatorQ5T9A4.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR003593. AAA+_ATPase.
IPR003959. ATPase_AAA_core.
IPR021911. DUF3523.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF00004. AAA. 1 hit.
PF12037. DUF3523. 1 hit.
[Graphical view]
SMARTSM00382. AAA. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
ProtoNetSearch...

Other

ChiTaRSATAD3B. human.
GenomeRNAi83858.
NextBio72857.
PROQ5T9A4.
SOURCESearch...

Entry information

Entry nameATD3B_HUMAN
AccessionPrimary (citable) accession number: Q5T9A4
Secondary accession number(s): A8K3H1 expand/collapse secondary AC list , Q6ZRB5, Q9BUK4, Q9ULE7
Entry history
Integrated into UniProtKB/Swiss-Prot: September 13, 2005
Last sequence update: December 21, 2004
Last modified: July 9, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM