Q9NXH8 (TOR4A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Torsin-4A

Alternative name(s):
Torsin family 4 member A

Gene names

Name:	TOR4A
Synonyms:	C9orf167

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	423 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane protein Potential.
Sequence similarities	Belongs to the clpA/clpB family. Torsin subfamily.

Ontologies

Keywords
Cellular component	Membrane
Domain	Transmembrane Transmembrane helix
Ligand	ATP-binding Nucleotide-binding
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	chaperone mediated protein folding requiring cofactor Inferred from electronic annotation. Source: InterPro
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW nucleoside-triphosphatase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 423	423	Torsin-4A		PRO_0000287489
Regions
	Transmembrane	122 – 138	17	Helical; Potential
	Nucleotide binding	194 – 201	8	ATP Potential
Amino acid modifications
	Modified residue	81	1	Phosphoserine Ref.3
Experimental info
	Sequence conflict	356	1	Q → R in BAA91032. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q9NXH8 [UniParc]. Last modified May 15, 2007. Version 2. Checksum: 5CF52BC28A1AD7CC	FASTA	423	46,914
	10 20 30 40 50 60 MDRGQPSLEP AAAAPRASGR CVIAPVRAVL RLRRRVCVLR KRRLLQPGGG PDVGTGAPRP 70 80 90 100 110 120 GCSPRAPRAD LDQPKFFTFD SPAELPSRTP RKKRRRSRLV LYPETSRKYR PRVEHRSRAQ 130 140 150 160 170 180 RCLLLLVAIV GFQVLNAIEN LDDNAQRYDL DGLEKALQRA VFGQPAAVSR IVALMRDYLA 190 200 210 220 230 240 THVHSRPLLL ALHGPSGVGK SHVGRLLARH FRSVLEDSAL VLQYHARHHC PEARAAQDCR 250 260 270 280 290 300 EELARRVADV VARAEAEEKT PLLVLDDVEL MPRPLLDELH GFLQPQRSHH FHNAIYVLLS 310 320 330 340 350 360 GAGGAEVTRF VLQNASRALP LRPDGFRSAE AAAAQAEEDL RASLLAVLSR EHPLWQAAAI 370 380 390 400 410 420 VPFLLLDKRD VVSCFRDEMA GEGFFPDQAR AENLAAQLSF YRVAGREFAV TGCKQVVATV NLL

References

[1]	"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]. Tissue: Colon mucosa.
[2]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-81, MASS SPECTROMETRY. Tissue: Cervix carcinoma.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK000252 mRNA. Translation: BAA91032.1. BX255925 Genomic DNA. Translation: CAM24150.1.
IPI	IPI00015101.
RefSeq	NP_060193.2. NM_017723.2.
UniGene	Hs.495541.
3D structure databases
ProteinModelPortal	Q9NXH8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000350102.
PTM databases
PhosphoSite	Q9NXH8.
Polymorphism databases
DMDM	147638588.
Proteomic databases
PaxDb	Q9NXH8.
PRIDE	Q9NXH8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000357503; ENSP00000350102; ENSG00000198113.
GeneID	54863.
KEGG	hsa:54863.
UCSC	uc004cmn.3. human.
Organism-specific databases
CTD	54863.
GeneCards	GC09P140173.
H-InvDB	HIX0020701.
HGNC	HGNC:25981. TOR4A.
HPA	HPA044913.
neXtProt	NX_Q9NXH8.
PharmGKB	PA162380839.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG264969.
HOGENOM	HOG000043098.
HOVERGEN	HBG054429.
InParanoid	Q9NXH8.
OMA	DYLATHV.
OrthoDB	EOG4K9BCN.
PhylomeDB	Q9NXH8.
Gene expression databases
Bgee	Q9NXH8.
CleanEx	HS_C9orf167.
Genevestigator	Q9NXH8.
Family and domain databases
InterPro	IPR003593. AAA+_ATPase. IPR027417. P-loop_NTPase. IPR010448. Torsin. [Graphical view]
PANTHER	PTHR10760. PTHR10760. 1 hit.
Pfam	PF06309. Torsin. 1 hit. [Graphical view]
SMART	SM00382. AAA. 1 hit. [Graphical view]
SUPFAM	SSF52540. SSF52540. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	54863.
NextBio	57754.

Entry information

Entry name

TOR4A_HUMAN

Accession

Primary (citable) accession number: Q9NXH8
Secondary accession number(s): A2BFA4

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 15, 2007
Last sequence update:	May 15, 2007
Last modified:	May 29, 2013
This is version 88 of the entry and version 2 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.