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Q53RT3

- APRV1_HUMAN

UniProt

Q53RT3 - APRV1_HUMAN

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Protein
Retroviral-like aspartic protease 1
Gene
ASPRV1, SASP
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei212 – 2121 By similarity

GO - Molecular functioni

  1. aspartic-type endopeptidase activity Source: UniProtKB

GO - Biological processi

  1. protein processing Source: UniProtKB
  2. skin development Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Aspartyl protease, Hydrolase, Protease

Protein family/group databases

MEROPSiA33.001.

Names & Taxonomyi

Protein namesi
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 namesi
Name:ASPRV1
Synonyms:SASP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:26321. ASPRV1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 5555Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei56 – 7621Helical; Reviewed prediction
Add
BLAST
Topological domaini77 – 343267Extracellular Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi212 – 2121D → A or E: Abolishes production of active form of enzyme. 1 Publication

Organism-specific databases

PharmGKBiPA162376919.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Propeptidei1 – 1901901 Publication
PRO_0000271170Add
BLAST
Chaini191 – 326136Retroviral-like aspartic protease 11 Publication
PRO_0000271171Add
BLAST
Propeptidei327 – 343171 Publication
PRO_0000271172Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi276 – 2761N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

Undergoes autocleavage which is necessary for activation of the protein.1 Publication

Keywords - PTMi

Autocatalytic cleavage, Glycoprotein

Proteomic databases

PaxDbiQ53RT3.
PRIDEiQ53RT3.

PTM databases

PhosphoSiteiQ53RT3.

Expressioni

Tissue specificityi

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.2 Publications

Gene expression databases

BgeeiQ53RT3.
CleanExiHS_ASPRV1.
GenevestigatoriQ53RT3.

Organism-specific databases

HPAiHPA034809.
HPA034810.

Interactioni

Subunit structurei

Homodimer Reviewed prediction.By similarity

Protein-protein interaction databases

BioGridi127385. 2 interactions.
IntActiQ53RT3. 1 interaction.
STRINGi9606.ENSP00000315383.

Structurei

3D structure databases

ProteinModelPortaliQ53RT3.
SMRiQ53RT3. Positions 197-305.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini207 – 28882Peptidase A2
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG45468.
HOGENOMiHOG000034019.
HOVERGENiHBG080861.
InParanoidiQ53RT3.
OMAiMGKGYYL.
OrthoDBiEOG7SR4N6.
PhylomeDBiQ53RT3.
TreeFamiTF337956.

Family and domain databases

InterProiIPR001969. Aspartic_peptidase_AS.
IPR001995. Peptidase_A2_cat.
IPR021109. Peptidase_aspartic_dom.
[Graphical view]
SUPFAMiSSF50630. SSF50630. 1 hit.
PROSITEiPS50175. ASP_PROT_RETROV. 1 hit.
PS00141. ASP_PROTEASE. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q53RT3-1 [UniParc]FASTAAdd to Basket

« Hide

MGSPGASLGI KKALQSEQAT ALPASAPAVS QPTAPAPSCL PKAGQVIPTL    50
LREAPFSSVI APTLLCGFLF LAWVAAEVPE ESSRMAGSGA RSEEGRRQHA 100
FVPEPFDGAN VVPNLWLHSF EVINDLNHWD HITKLRFLKE SLRGEALGVY 150
NRLSPQDQGD YGTVKEALLK AFGVPGAAPS HLPKEIVFAN SMGKGYYLKG 200
KIGKVPVRFL VDSGAQVSVV HPNLWEEVTD GDLDTLQPFE NVVKVANGAE 250
MKILGVWDTA VSLGKLKLKA QFLVANASAE EAIIGTDVLQ DHNAILDFEH 300
RTCTLKGKKF RLLPVGGSLE DEFDLELIEE DPSSEEGRQE LSH 343
Length:343
Mass (Da):36,991
Last modified:May 24, 2005 - v1
Checksum:i439BAC407F5EBCCB
GO

Sequence cautioni

The sequence BAB71587.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti49 – 491T → A.2 Publications
Corresponds to variant rs3796097 [ dbSNP | Ensembl ].
VAR_051508

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti31 – 311Q → R in BAB71587. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS1897.1.
RefSeqiNP_690005.2. NM_152792.2.
UniGeneiHs.516253.

Genome annotation databases

EnsembliENST00000320256; ENSP00000315383; ENSG00000244617.
GeneIDi151516.
KEGGihsa:151516.
UCSCiuc002sfz.4. human.

Polymorphism databases

DMDMi74726595.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS1897.1.
RefSeqi NP_690005.2. NM_152792.2.
UniGenei Hs.516253.

3D structure databases

ProteinModelPortali Q53RT3.
SMRi Q53RT3. Positions 197-305.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127385. 2 interactions.
IntActi Q53RT3. 1 interaction.
STRINGi 9606.ENSP00000315383.

Protein family/group databases

MEROPSi A33.001.

PTM databases

PhosphoSitei Q53RT3.

Polymorphism databases

DMDMi 74726595.

Proteomic databases

PaxDbi Q53RT3.
PRIDEi Q53RT3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320256 ; ENSP00000315383 ; ENSG00000244617 .
GeneIDi 151516.
KEGGi hsa:151516.
UCSCi uc002sfz.4. human.

Organism-specific databases

CTDi 151516.
GeneCardsi GC02M070187.
H-InvDB HIX0002133.
HGNCi HGNC:26321. ASPRV1.
HPAi HPA034809.
HPA034810.
MIMi 611765. gene.
neXtProti NX_Q53RT3.
PharmGKBi PA162376919.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45468.
HOGENOMi HOG000034019.
HOVERGENi HBG080861.
InParanoidi Q53RT3.
OMAi MGKGYYL.
OrthoDBi EOG7SR4N6.
PhylomeDBi Q53RT3.
TreeFami TF337956.

Miscellaneous databases

GenomeRNAii 151516.
NextBioi 86714.
PROi Q53RT3.
SOURCEi Search...

Gene expression databases

Bgeei Q53RT3.
CleanExi HS_ASPRV1.
Genevestigatori Q53RT3.

Family and domain databases

InterProi IPR001969. Aspartic_peptidase_AS.
IPR001995. Peptidase_A2_cat.
IPR021109. Peptidase_aspartic_dom.
[Graphical view ]
SUPFAMi SSF50630. SSF50630. 1 hit.
PROSITEi PS50175. ASP_PROT_RETROV. 1 hit.
PS00141. ASP_PROTEASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiAPRV1_HUMAN
AccessioniPrimary (citable) accession number: Q53RT3
Secondary accession number(s): Q8N5P2, Q96LT3, Q96N43
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 9, 2007
Last sequence update: May 24, 2005
Last modified: July 9, 2014
This is version 77 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Peptidase families
    Classification of peptidase families and list of entries
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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