Q53RT3 (APRV1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Retroviral-like aspartic protease 1
EC=3.4.23.-

Alternative name(s):
Skin-specific retroviral-like aspartic protease
Short name=SASPase
Short name=Skin aspartic protease
TPA-inducible aspartic proteinase-like protein
Short name=TAPS

Gene names

Name:	ASPRV1
Synonyms:	SASP

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	343 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)

Subunit structure	Homodimer Potential. UniProtKB Q09PK2
Subcellular location	Membrane; Single-pass membrane protein Potential.
Tissue specificity	Expressed primarily in the granular layer of the epidermis and inner root sheath of hair follicles. In psoriatic skin, expressed throughout the stratum corneum. In ulcerated skin, expressed in the stratum granulosum of intact epidermis but almost absent from ulcerated regions. Expressed in differentiated areas of squamous cell carcinomas but not in undifferentiated tumors. Ref.1 Ref.5
Post-translational modification	Undergoes autocleavage which is necessary for activation of the protein. Ref.1
Sequence similarities	Contains 1 peptidase A2 domain.
Sequence caution	The sequence BAB71587.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Transmembrane Transmembrane helix
Molecular function	Aspartyl protease Hydrolase Protease
PTM	Autocatalytic cleavage Glycoprotein
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	protein processing Inferred from direct assay Ref.1. Source: UniProtKB proteolysis Inferred from electronic annotation. Source: UniProtKB-KW skin development Inferred from sequence or structural similarity. Source: UniProtKB
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	aspartic-type endopeptidase activity Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Propeptide	1 – 190	190	Ref.1		PRO_0000271170
	Chain	191 – 326	136	Retroviral-like aspartic protease 1 Ref.1		PRO_0000271171
	Propeptide	327 – 343	17	Ref.1		PRO_0000271172
Regions
	Topological domain	1 – 55	55	Cytoplasmic Potential
	Transmembrane	56 – 76	21	Helical; Potential
	Topological domain	77 – 343	267	Extracellular Potential
	Domain	207 – 288	82	Peptidase A2
Sites
	Active site	212	1	By similarity
Amino acid modifications
	Glycosylation	276	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	49	1	T → A. Ref.2 Ref.4 Corresponds to variant rs3796097 [ dbSNP | Ensembl ].		VAR_051508
Experimental info
	Mutagenesis	212	1	D → A or E: Abolishes production of active form of enzyme. Ref.1
	Sequence conflict	31	1	Q → R in BAB71587. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q53RT3 [UniParc]. Last modified May 24, 2005. Version 1. Checksum: 439BAC407F5EBCCB	FASTA	343	36,991
	10 20 30 40 50 60 MGSPGASLGI KKALQSEQAT ALPASAPAVS QPTAPAPSCL PKAGQVIPTL LREAPFSSVI 70 80 90 100 110 120 APTLLCGFLF LAWVAAEVPE ESSRMAGSGA RSEEGRRQHA FVPEPFDGAN VVPNLWLHSF 130 140 150 160 170 180 EVINDLNHWD HITKLRFLKE SLRGEALGVY NRLSPQDQGD YGTVKEALLK AFGVPGAAPS 190 200 210 220 230 240 HLPKEIVFAN SMGKGYYLKG KIGKVPVRFL VDSGAQVSVV HPNLWEEVTD GDLDTLQPFE 250 260 270 280 290 300 NVVKVANGAE MKILGVWDTA VSLGKLKLKA QFLVANASAE EAIIGTDVLQ DHNAILDFEH 310 320 330 340 RTCTLKGKKF RLLPVGGSLE DEFDLELIEE DPSSEEGRQE LSH

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermis." Bernard D., Mehul B., Thomas-Collignon A., Delattre C., Donovan M., Schmidt R. J. Invest. Dermatol. 125:278-287(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, TISSUE SPECIFICITY, AUTOCATALYTIC CLEAVAGE, MUTAGENESIS OF ASP-212. Tissue: Epidermis.
[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], VARIANT ALA-49. Tissue: Cerebellum and Teratocarcinoma.
[3]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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], VARIANT ALA-49. Tissue: Skin.
[5]	"A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin." Rhiemeier V., Breitenbach U., Richter K.H., Gebhardt C., Vogt I., Hartenstein B., Fuerstenberger G., Mauch C., Hess J., Angel P. Am. J. Pathol. 168:1354-1364(2006) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK055994 mRNA. Translation: BAB71067.1. AK057813 mRNA. Translation: BAB71587.1. Different initiation. AC079811 Genomic DNA. Translation: AAY24017.1. BC031997 mRNA. Translation: AAH31997.2. BC094002 mRNA. Translation: AAH94002.1. BC094000 mRNA. Translation: AAH94000.1.
IPI	IPI00102281.
RefSeq	NP_690005.2. NM_152792.2.
UniGene	Hs.516253.
3D structure databases
ProteinModelPortal	Q53RT3.
SMR	Q53RT3. Positions 197-300.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q53RT3. 1 interaction.
STRING	9606.ENSP00000315383.
Protein family/group databases
MEROPS	A33.001.
PTM databases
PhosphoSite	Q53RT3.
Polymorphism databases
DMDM	74726595.
Proteomic databases
PaxDb	Q53RT3.
PRIDE	Q53RT3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000320256; ENSP00000315383; ENSG00000244617.
GeneID	151516.
KEGG	hsa:151516.
UCSC	uc002sfz.4. human.
Organism-specific databases
CTD	151516.
GeneCards	GC02M070187.
H-InvDB	HIX0002133.
HGNC	HGNC:26321. ASPRV1.
HPA	HPA034810.
MIM	611765. gene.
neXtProt	NX_Q53RT3.
PharmGKB	PA162376919.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG45468.
HOGENOM	HOG000034019.
HOVERGEN	HBG080861.
InParanoid	Q53RT3.
OMA	KVANGAE.
OrthoDB	EOG4S7JQC.
PhylomeDB	Q53RT3.
Gene expression databases
Bgee	Q53RT3.
CleanEx	HS_ASPRV1.
Genevestigator	Q53RT3.
Family and domain databases
InterPro	IPR001995. Peptidase_A2_cat. IPR021109. Peptidase_aspartic. IPR001969. Peptidase_aspartic_AS. [Graphical view]
SUPFAM	SSF50630. Pept_Aspartic. 1 hit.
PROSITE	PS50175. ASP_PROT_RETROV. 1 hit. PS00141. ASP_PROTEASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	151516.
NextBio	86714.
SOURCE	Search...

Entry information

Entry name

APRV1_HUMAN

Accession

Primary (citable) accession number: Q53RT3
Secondary accession number(s): Q8N5P2, Q96LT3, Q96N43

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 9, 2007
Last sequence update:	May 24, 2005
Last modified:	May 1, 2013
This is version 69 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.