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Retroviral-like aspartic protease 1 (EC 3.4.23.-) (Skin-specific retroviral-like aspartic protease) (SASPase) (Skin aspartic protease) (TPA-inducible aspartic proteinase-like protein) (TAPS)

 APRV1_HUMAN             Reviewed;         343 AA.
Q53RT3; Q8N5P2; Q96LT3; Q96N43;
09-JAN-2007, integrated into UniProtKB/Swiss-Prot.
24-MAY-2005, sequence version 1.
22-NOV-2017, entry version 98.
RecName: Full=Retroviral-like aspartic protease 1;
EC=3.4.23.-;
AltName: Full=Skin-specific retroviral-like aspartic protease;
Short=SASPase;
Short=Skin aspartic protease;
AltName: Full=TPA-inducible aspartic proteinase-like protein;
Short=TAPS;
Flags: Precursor;
Name=ASPRV1 {ECO:0000250|UniProtKB:Q09PK2};
Synonyms=SASP {ECO:0000303|PubMed:16098038};
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1] {ECO:0000305}
NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, TISSUE
SPECIFICITY, AUTOCATALYTIC CLEAVAGE, AND MUTAGENESIS OF ASP-212.
TISSUE=Epidermis {ECO:0000269|PubMed:16098038};
PubMed=16098038; DOI=10.1111/j.0022-202X.2005.23816.x;
Bernard D., Mehul B., Thomas-Collignon A., Delattre C., Donovan M.,
Schmidt R.;
"Identification and characterization of a novel retroviral-like
aspartic protease specifically expressed in human epidermis.";
J. Invest. Dermatol. 125:278-287(2005).
[2] {ECO:0000312|EMBL:BAB71067.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-49.
TISSUE=Cerebellum {ECO:0000312|EMBL:BAB71587.1}, and
Teratocarcinoma {ECO:0000312|EMBL:BAB71067.1};
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[3] {ECO:0000312|EMBL:AAY24017.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
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.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[4] {ECO:0000312|EMBL:AAH94000.1}
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], AND VARIANT ALA-49.
TISSUE=Skin;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5] {ECO:0000305}
TISSUE SPECIFICITY.
PubMed=16565508; DOI=10.2353/ajpath.2006.050871;
Rhiemeier V., Breitenbach U., Richter K.H., Gebhardt C., Vogt I.,
Hartenstein B., Fuerstenberger G., Mauch C., Hess J., Angel P.;
"A novel aspartic proteinase-like gene expressed in stratified
epithelia and squamous cell carcinoma of the skin.";
Am. J. Pathol. 168:1354-1364(2006).
-!- SUBUNIT: Homodimer. {ECO:0000250|UniProtKB:Q09PK2, ECO:0000305}.
-!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane
protein {ECO:0000255}.
-!- 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. {ECO:0000269|PubMed:16098038,
ECO:0000269|PubMed:16565508}.
-!- PTM: Undergoes autocleavage which is necessary for activation of
the protein. {ECO:0000269|PubMed:16098038}.
-!- SEQUENCE CAUTION:
Sequence=BAB71587.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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EMBL; AK055994; BAB71067.1; -; mRNA.
EMBL; AK057813; BAB71587.1; ALT_INIT; mRNA.
EMBL; AC079811; AAY24017.1; -; Genomic_DNA.
EMBL; BC031997; AAH31997.2; -; mRNA.
EMBL; BC094002; AAH94002.1; -; mRNA.
EMBL; BC094000; AAH94000.1; -; mRNA.
CCDS; CCDS1897.1; -.
RefSeq; NP_690005.2; NM_152792.2.
UniGene; Hs.516253; -.
ProteinModelPortal; Q53RT3; -.
SMR; Q53RT3; -.
BioGrid; 127385; 13.
IntAct; Q53RT3; 1.
STRING; 9606.ENSP00000315383; -.
MEROPS; A28.004; -.
iPTMnet; Q53RT3; -.
PhosphoSitePlus; Q53RT3; -.
BioMuta; ASPRV1; -.
DMDM; 74726595; -.
EPD; Q53RT3; -.
PaxDb; Q53RT3; -.
PeptideAtlas; Q53RT3; -.
PRIDE; Q53RT3; -.
Ensembl; ENST00000320256; ENSP00000315383; ENSG00000244617.
GeneID; 151516; -.
KEGG; hsa:151516; -.
UCSC; uc002sfz.6; human.
CTD; 151516; -.
DisGeNET; 151516; -.
EuPathDB; HostDB:ENSG00000244617.2; -.
GeneCards; ASPRV1; -.
H-InvDB; HIX0002133; -.
HGNC; HGNC:26321; ASPRV1.
HPA; HPA034809; -.
HPA; HPA034810; -.
MIM; 611765; gene.
neXtProt; NX_Q53RT3; -.
OpenTargets; ENSG00000244617; -.
PharmGKB; PA162376919; -.
eggNOG; ENOG410IFHF; Eukaryota.
eggNOG; ENOG410ZM0E; LUCA.
GeneTree; ENSGT00390000017260; -.
HOGENOM; HOG000034019; -.
HOVERGEN; HBG080861; -.
InParanoid; Q53RT3; -.
OMA; MGKGYYL; -.
OrthoDB; EOG091G0NU5; -.
PhylomeDB; Q53RT3; -.
TreeFam; TF337956; -.
GenomeRNAi; 151516; -.
PRO; PR:Q53RT3; -.
Proteomes; UP000005640; Chromosome 2.
Bgee; ENSG00000244617; -.
CleanEx; HS_ASPRV1; -.
Genevisible; Q53RT3; HS.
GO; GO:0016021; C:integral component of membrane; NAS:UniProtKB.
GO; GO:0004190; F:aspartic-type endopeptidase activity; IDA:UniProtKB.
GO; GO:0016485; P:protein processing; IDA:UniProtKB.
GO; GO:0043588; P:skin development; ISS:UniProtKB.
Gene3D; 2.40.70.10; -; 1.
InterPro; IPR001969; Aspartic_peptidase_AS.
InterPro; IPR033539; Asprv1.
InterPro; IPR001995; Peptidase_A2_cat.
InterPro; IPR021109; Peptidase_aspartic_dom_sf.
PANTHER; PTHR37006; PTHR37006; 3.
SUPFAM; SSF50630; SSF50630; 1.
PROSITE; PS50175; ASP_PROT_RETROV; 1.
PROSITE; PS00141; ASP_PROTEASE; 1.
1: Evidence at protein level;
Aspartyl protease; Autocatalytic cleavage; Complete proteome;
Direct protein sequencing; Glycoprotein; Hydrolase; Membrane;
Polymorphism; Protease; Reference proteome; Transmembrane;
Transmembrane helix.
PROPEP 1 190 {ECO:0000269|PubMed:16098038}.
/FTId=PRO_0000271170.
CHAIN 191 326 Retroviral-like aspartic protease 1.
{ECO:0000269|PubMed:16098038}.
/FTId=PRO_0000271171.
PROPEP 327 343 {ECO:0000269|PubMed:16098038}.
/FTId=PRO_0000271172.
TOPO_DOM 1 55 Cytoplasmic. {ECO:0000255}.
TRANSMEM 56 76 Helical. {ECO:0000255}.
TOPO_DOM 77 343 Extracellular. {ECO:0000255}.
DOMAIN 207 288 Peptidase A2. {ECO:0000255|PROSITE-
ProRule:PRU00275}.
ACT_SITE 212 212 {ECO:0000255|PROSITE-ProRule:PRU10094}.
CARBOHYD 276 276 N-linked (GlcNAc...) asparagine.
{ECO:0000255}.
VARIANT 49 49 T -> A (in dbSNP:rs3796097).
{ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334}.
/FTId=VAR_051508.
MUTAGEN 212 212 D->A,E: Abolishes production of active
form of enzyme.
{ECO:0000269|PubMed:16098038}.
CONFLICT 31 31 Q -> R (in Ref. 2; BAB71587).
{ECO:0000305}.
SEQUENCE 343 AA; 36991 MW; 439BAC407F5EBCCB CRC64;
MGSPGASLGI KKALQSEQAT ALPASAPAVS QPTAPAPSCL PKAGQVIPTL LREAPFSSVI
APTLLCGFLF LAWVAAEVPE ESSRMAGSGA RSEEGRRQHA FVPEPFDGAN VVPNLWLHSF
EVINDLNHWD HITKLRFLKE SLRGEALGVY NRLSPQDQGD YGTVKEALLK AFGVPGAAPS
HLPKEIVFAN SMGKGYYLKG KIGKVPVRFL VDSGAQVSVV HPNLWEEVTD GDLDTLQPFE
NVVKVANGAE MKILGVWDTA VSLGKLKLKA QFLVANASAE EAIIGTDVLQ DHNAILDFEH
RTCTLKGKKF RLLPVGGSLE DEFDLELIEE DPSSEEGRQE LSH


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