Q5T9A4 (ATD3B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
ATPase family AAA domain-containing protein 3B

Alternative name(s):
AAA-TOB3

Gene names

Name:	ATAD3B
Synonyms:	KIAA1273, TOB3

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	648 AA.
Sequence status	Complete.
Protein existence	Evidence 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.11
Subcellular location	Mitochondrion inner membrane; Peripheral membrane protein. Note: Has been found to co-purify with nucleoids (Ref.11). 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 component	Membrane Mitochondrion Mitochondrion inner membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Ligand	ATP-binding Nucleotide-binding
PTM	Acetylation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	mitochondrial inner membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 648	648	ATPase family AAA domain-containing protein 3B		PRO_0000084800
Regions
	Topological domain	1 – 246	246	Mitochondrial intermembrane Potential
	Intramembrane	247 – 264	18	Helical; Potential
	Topological domain	265 – 648	384	Mitochondrial intermembrane Potential
	Nucleotide binding	352 – 359	8	ATP Potential
	Coiled coil	69 – 214	146	Potential
	Compositional bias	18 – 24	7	Poly-Pro
Amino acid modifications
	Modified residue	427	1	N6-acetyllysine Ref.8
Natural variations
	Alternative sequence	1 – 118	118	Missing in isoform 2.		VSP_015637
	Alternative sequence	1 – 46	46	Missing in isoform 3.		VSP_015638
	Alternative sequence	47 – 94	48	WSNFD…QSKLK → MQLEALNLLHTLVWARSLCR AGAVQTQERLSGSASPEQVP AGECCALQ in isoform 3.		VSP_015639
	Alternative sequence	119 – 128	10	LSEETRQHQA → MCLCRPLLPQ in isoform 2.		VSP_015640
	Alternative sequence	252 – 284	33	AGLTL…GKPSL → NIFIKQGWQVAERQHVGASW SPRSCPCRLCTAL in isoform 2.		VSP_015641
	Alternative sequence	285 – 648	364	Missing in isoform 2.		VSP_015642
	Natural variant	7	1	V → I. Corresponds to variant rs1240504 [ dbSNP | Ensembl ].		VAR_048120
Experimental info
	Sequence conflict	149	1	Q → R in AAH02542. Ref.5
	Sequence conflict	149	1	Q → R in AAH18701. Ref.5
	Sequence conflict	153	1	E → V in AK128357. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (AAA-TOB3l) [UniParc]. Last modified December 21, 2004. Version 1. Checksum: 5133DB55E3415707	FASTA	648	72,573
	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
	Isoform 2 [UniParc]. Checksum: 15325B2EF9B86B13	FASTA	166	19,508
	10 20 30 40 50 60 MCLCRPLLPQ RAQYQDKLAR QRYEDQLKQQ QLLNEENLRK QEESVQKQEA MRRATVEREM 70 80 90 100 110 120 ELRHKNEMLR VETEARARAK AERENADIIR EQIRLKASEH RQTVLESIRT AGTLFGEGFR 130 140 150 160 AFVTDRDKVT ATVNIFIKQG WQVAERQHVG ASWSPRSCPC RLCTAL
	Isoform 3 (AAA-TOB3s) [UniParc]. Checksum: C787D0F1D620B06F	FASTA	602	67,608
	10 20 30 40 50 60 MQLEALNLLH TLVWARSLCR AGAVQTQERL SGSASPEQVP AGECCALQEY EAAVEQLKSE 70 80 90 100 110 120 QIRAQAEERR KTLSEETRQH QARAQYQDKL ARQRYEDQLK QQQLLNEENL RKQEESVQKQ 130 140 150 160 170 180 EAMRRATVER EMELRHKNEM LRVETEARAR AKAERENADI IREQIRLKAS EHRQTVLESI 190 200 210 220 230 240 RTAGTLFGEG FRAFVTDRDK VTATVAGLTL LAVGVYSAKN ATAVTGRFIE ARLGKPSLVR 250 260 270 280 290 300 ETSRITVLEA LRHPIQVSRR LLSRPQDVLE GVVLSPSLEA RVRDIAIATR NTKKNRGLYR 310 320 330 340 350 360 HILLYGPPGT GKTLFAKKLA LHSGMDYAIM TGGDVAPMGR EGVTAMHKLF DWANTSRRGL 370 380 390 400 410 420 LLFMDEADAF LRKRATEEIS KDLRATLNAF LYHMGQHSNK FMLVLASNLP EQFDCAINSR 430 440 450 460 470 480 IDVMVHFDLP QQEERERLVR LHFDNCVLKP ATEGKRRLKL AQFDYGRKCS EVARLTEGMS 490 500 510 520 530 540 GREIAQLAVS WQATAYASKD GVLTEAMMDA CVQDAVQQYR QKMRWLKAEG PGRGVEHPLS 550 560 570 580 590 600 GVQGETLTSW SLATDPSYPC LAGPCTFRIC SWMGTGLCPG PLSPRMSCGG GRPFCPPGHP LL

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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, MASS SPECTROMETRY.
[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]	"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.
IPI	IPI00178879. IPI00306048. IPI00443780.
RefSeq	NP_114127.3. NM_031921.4.
UniGene	Hs.729021.
3D structure databases
ProteinModelPortal	Q5T9A4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q5T9A4. 6 interactions.
STRING	9606.ENSP00000311766.
PTM databases
PhosphoSite	Q5T9A4.
Polymorphism databases
DMDM	74745646.
Proteomic databases
PaxDb	Q5T9A4.
PRIDE	Q5T9A4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000308647; ENSP00000311766; ENSG00000160072.
GeneID	83858.
KEGG	hsa:83858.
UCSC	uc001afv.3. human. uc001afw.2. human. uc001afx.3. human.
Organism-specific databases
CTD	83858.
GeneCards	GC01P001397.
HGNC	HGNC:24007. ATAD3B.
MIM	612317. gene.
neXtProt	NX_Q5T9A4.
PharmGKB	PA134993325.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0465.
HOGENOM	HOG000231291.
HOVERGEN	HBG058506.
InParanoid	Q5T9A4.
OMA	RGLLLFM.
OrthoDB	EOG4ZCT46.
PhylomeDB	Q5T9A4.
Gene expression databases
ArrayExpress	Q5T9A4.
Bgee	Q5T9A4.
CleanEx	HS_ATAD3B.
Genevestigator	Q5T9A4.
GermOnline	ENSG00000160072. Homo sapiens.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR003959. ATPase_AAA_core. IPR021911. DUF3523. [Graphical view]
Pfam	PF00004. AAA. 1 hit. PF12037. DUF3523. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	ATAD3B. human.
GenomeRNAi	83858.
NextBio	72857.
SOURCE	Search...

Entry information

Entry name

ATD3B_HUMAN

Accession

Primary (citable) accession number: Q5T9A4
Secondary accession number(s): A8K3H1 , Q6ZRB5, Q9BUK4, Q9ULE7

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 13, 2005
Last sequence update:	December 21, 2004
Last modified:	May 1, 2013
This is version 83 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.