Q8N2E6 (TOR2X_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Prosalusin

Alternative name(s):
Torsin family 2 member A
Torsin-2A

Cleaved into the following 2 chains:

1. Salusin-alpha
2. Salusin-beta

Gene names

Name:	TOR2A
ORF Names:	HEMBA1005096, PSEC0218

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	242 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides. Ref.3
Subcellular location	Secreted Ref.3.
Tissue specificity	Isoform 4 is ubiquitously expressed, with high level in vascular endothelial cells and vascular smooth muscle cells. Ref.3
Post-translational modification	Amidation of salusin-alpha(29-Gly) by peptidylglycine alpha-amidating monooxygenase, PAM, converts Lys-241-Gly-242 to Lys-241-NH2 and gives raise to salusin-alpha.
Sequence similarities	Belongs to the clpA/clpB family. Torsin subfamily.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative splicing
Domain	Signal
Ligand	ATP-binding Nucleotide-binding
Molecular function	Hormone
PTM	Amidation Cleavage on pair of basic residues Glycoprotein
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	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 4 (identifier: Q8N2E6-1)

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.

Note: Salusins -alpha and -beta peptides are derived from isoform 4.

Isoform 1 (identifier: Q5JU69-1)

The sequence of this isoform can be found in the external entry Q5JU69.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

Isoform 2 (identifier: Q5JU69-2)

The sequence of this isoform can be found in the external entry Q5JU69.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q5JU69-5)

The sequence of this isoform can be found in the external entry Q5JU69.
Isoforms of the same protein are often annotated in two different entries if their sequences differ significantly.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 26	26	Potential
	Chain	27 – 242	216	Prosalusin		PRO_0000228825
	Propeptide	27 – 189	163	Potential		PRO_0000228826
	Peptide	192 – 211	20	Salusin-beta		PRO_0000228827
	Peptide	214 – 241	28	Salusin-alpha		PRO_0000228828
Regions
	Nucleotide binding	93 – 100	8	ATP Potential
Amino acid modifications
	Modified residue	241	1	Lysine amide Ref.3
	Glycosylation	149	1	N-linked (GlcNAc...) Potential

Sequences

	Sequence		Length	Mass (Da)
	Isoform 4 [UniParc]. Last modified October 1, 2002. Version 1. Checksum: 8118353CE5A0D628	FASTA	242	26,262
	10 20 30 40 50 60 MAAATRGCRP WGSLLGLLGL VSAAAAAWDL ASLRCTLGAF CECDFRPDLP GLECDLAQHL 70 80 90 100 110 120 AGQHLAKALV VKALKAFVRD PAPTKPLVLS LHGWTGTGKS YVSSLLAHYL FQGGLRSPRV 130 140 150 160 170 180 HHFSPVLHFP HPSHIERYKK DLKSWVQGNL TACGRSLFLF DEMDKMPPGL MEVLRPFLGS 190 200 210 220 230 240 SWVVYGTNYR KAIFIFIRWL LKLGHHGRAP PRRSGALPPA PAAPRPALRA QRAGPAGPGA KG
	Isoform 1 [UniParc]. See Q5JU69.		–	–
	Isoform 2 [UniParc]. See Q5JU69.		–	–
	Isoform 3 [UniParc]. See Q5JU69.		–	–

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries." Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J., Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S., Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y. , Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S., Isogai T. DNA Res. 12:117-126(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Tissue: Embryo.
[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]	"Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities." Shichiri M., Ishimaru S., Ota T., Nishikawa T., Isogai T., Hirata Y. Nat. Med. 9:1166-1172(2003) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION OF SALUSINS, TISSUE SPECIFICITY, AMIDATION AT LYS-241, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK075520 mRNA. Translation: BAC11667.1. AL162426 Genomic DNA. Translation: CAI41185.1.
IPI	IPI00395845.
RefSeq	NP_001127902.1. NM_001134430.2.
UniGene	Hs.444106.
3D structure databases
ProteinModelPortal	Q8N2E6.
ModBase	Search...
Polymorphism databases
DMDM	74750929.
Proteomic databases
PRIDE	Q8N2E6.
Protocols and materials databases
DNASU	27433.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000336067; ENSP00000338317; ENSG00000160404.
GeneID	27433.
KEGG	hsa:27433.
UCSC	uc004brt.4. human.
Organism-specific databases
CTD	27433.
GeneCards	GC09M130493.
HGNC	HGNC:11996. TOR2A.
MIM	608052. gene.
neXtProt	NX_Q8N2E6.
PharmGKB	PA36677.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	HOG000115770.
HOVERGEN	HBG094082.
OrthoDB	EOG4B8JDQ.
Gene expression databases
ArrayExpress	Q8N2E6.
Bgee	Q8N2E6.
CleanEx	HS_TOR2A.
Genevestigator	Q8N2E6.
GermOnline	ENSG00000160404. Homo sapiens.
Family and domain databases
InterPro	IPR010448. Torsin. [Graphical view]
PANTHER	PTHR10760. PTHR10760. 1 hit.
Pfam	PF06309. Torsin. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	27433.
NextBio	50475.
SOURCE	Search...

Entry information

Entry name

TOR2X_HUMAN

Accession

Primary (citable) accession number: Q8N2E6

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 21, 2006
Last sequence update:	October 1, 2002
Last modified:	May 1, 2013
This is version 71 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.