LOCUS       NM_152792               1543 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens aspartic peptidase retroviral like 1 (ASPRV1),
            transcript variant 1, mRNA.
ACCESSION   NM_152792
VERSION     NM_152792.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1543)
  AUTHORS   Golda,M., Motyan,J.A., Nagy,K., Matuz,K., Nagy,T. and Tozser,J.
  TITLE     Biochemical Characterization of Human Retroviral-Like Aspartic
            Protease 1 (ASPRV1)
  JOURNAL   Biomolecules 10 (7), 1004 (2020)
   PUBMED   32640672
  REMARK    GeneRIF: Biochemical Characterization of Human Retroviral-Like
            Aspartic Protease 1 (ASPRV1).
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1543)
  AUTHORS   Boyden,L.M., Zhou,J., Hu,R., Zaki,T., Loring,E., Scott,J.,
            Traupe,H., Paller,A.S., Lifton,R.P. and Choate,K.A.
  TITLE     Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
  JOURNAL   Am J Hum Genet 107 (1), 158-163 (2020)
   PUBMED   32516568
  REMARK    GeneRIF: Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
REFERENCE   3  (bases 1 to 1543)
  AUTHORS   Donovan,M., Salamito,M., Thomas-Collignon,A., Simonetti,L.,
            Desbouis,S., Rain,J.C., Formstecher,E. and Bernard,D.
  TITLE     Filaggrin and filaggrin 2 processing are linked together through
            skin aspartic acid protease activation
  JOURNAL   PLoS One 15 (5), e0232679 (2020)
   PUBMED   32437351
  REMARK    GeneRIF: Filaggrin and filaggrin 2 processing are linked together
            through skin aspartic acid protease activation.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1543)
  AUTHORS   Navarini,A.A., Simpson,M.A., Weale,M., Knight,J., Carlavan,I.,
            Reiniche,P., Burden,D.A., Layton,A., Bataille,V., Allen,M.,
            Pleass,R., Pink,A., Creamer,D., English,J., Munn,S., Walton,S.,
            Willis,C., Deret,S., Voegel,J.J., Spector,T., Smith,C.H.,
            Trembath,R.C. and Barker,J.N.
  CONSRTM   Acne Genetic Study Group
  TITLE     Genome-wide association study identifies three novel susceptibility
            loci for severe Acne vulgaris
  JOURNAL   Nat Commun 5, 4020 (2014)
   PUBMED   24927181
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1543)
  AUTHORS   Sandilands,A., Brown,S.J., Goh,C.S., Pohler,E., Wilson,N.J.,
            Campbell,L.E., Miyamoto,K., Kubo,A., Irvine,A.D., Thawer-Esmail,F.,
            Munro,C.S., McLean,W.H., Kudoh,J., Amagai,M. and Matsui,T.
  TITLE     Mutations in the SASPase gene (ASPRV1) are not associated with
            atopic eczema or clinically dry skin
  JOURNAL   J Invest Dermatol 132 (5), 1507-1510 (2012)
   PUBMED   22318384
  REMARK    GeneRIF: results failed to find an association between ASPRV1 gene
            mutations and atopic eczema or clinically dry skin in the European
            populations studied
REFERENCE   6  (bases 1 to 1543)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   7  (bases 1 to 1543)
  AUTHORS   Matsui,T., Miyamoto,K., Kubo,A., Kawasaki,H., Ebihara,T., Hata,K.,
            Tanahashi,S., Ichinose,S., Imoto,I., Inazawa,J., Kudoh,J. and
            Amagai,M.
  TITLE     SASPase regulates stratum corneum hydration through
            profilaggrin-to-filaggrin processing
  JOURNAL   EMBO Mol Med 3 (6), 320-333 (2011)
   PUBMED   21542132
  REMARK    GeneRIF: SASPase activity is indispensable for processing
            profilaggrin and maintaining the texture and hydration of the
            stratum corneum.
REFERENCE   8  (bases 1 to 1543)
  AUTHORS   Rhiemeier,V., Breitenbach,U., Richter,K.H., Gebhardt,C., Vogt,I.,
            Hartenstein,B., Furstenberger,G., Mauch,C., Hess,J. and Angel,P.
  TITLE     A novel aspartic proteinase-like gene expressed in stratified
            epithelia and squamous cell carcinoma of the skin
  JOURNAL   Am J Pathol 168 (4), 1354-1364 (2006)
   PUBMED   16565508
  REMARK    GeneRIF: Taps expression is negatively associated with
            dedifferentiation and malignant progression in squamous cell
            carcinomas of the skin.
REFERENCE   9  (bases 1 to 1543)
  AUTHORS   Bernard,D., Mehul,B., Thomas-Collignon,A., Delattre,C., Donovan,M.
            and Schmidt,R.
  TITLE     Identification and characterization of a novel retroviral-like
            aspartic protease specifically expressed in human epidermis
  JOURNAL   J Invest Dermatol 125 (2), 278-287 (2005)
   PUBMED   16098038
  REMARK    GeneRIF: Identification and characterization of a new member of the
            aspartic proteases family, a unique epidermal retroviral-like
            protease, Skin ASpartic Protease.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC079811.6.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 30, 2020 this sequence version replaced NM_152792.3.
            
            Summary: Filaggrin is a structural protein that is crucial for in
            the development and maintenance of the skin barrier. This gene
            encodes a retroviral-like protease involved in
            profilaggrin-to-filaggrin processing. Expression is found primarily
            in the epidermis and inner root sheath of hair follicles. [provided
            by RefSeq, May 2017].
            
            Sequence Note: The RefSeq transcript was derived from the reference
            genome assembly. The genomic coordinates were determined from
            alignments.
            
            ##Evidence-Data-START##
            Transcript is intronless :: AK057813.1, AK055994.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000320256.6/ ENSP00000315383.5
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1543              AC079811.6         5054-6596           c
FEATURES             Location/Qualifiers
     source          1..1543
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..1543
                     /gene="ASPRV1"
                     /gene_synonym="ADLI; MUNO; SASP; SASPase; Taps"
                     /note="aspartic peptidase retroviral like 1"
                     /db_xref="GeneID:151516"
                     /db_xref="HGNC:HGNC:26321"
                     /db_xref="MIM:611765"
     exon            1..1543
                     /gene="ASPRV1"
                     /gene_synonym="ADLI; MUNO; SASP; SASPase; Taps"
                     /inference="alignment:Splign:2.1.0"
     CDS             196..975
                     /gene="ASPRV1"
                     /gene_synonym="ADLI; MUNO; SASP; SASPase; Taps"
                     /note="skin aspartic protease; TPA-inducible aspartic
                     proteinase-like protein; skin-specific retroviral-like
                     aspartic protease"
                     /codon_start=1
                     /product="retroviral-like aspartic protease 1"
                     /protein_id="NP_690005.3"
                     /db_xref="CCDS:CCDS1897.2"
                     /db_xref="GeneID:151516"
                     /db_xref="HGNC:HGNC:26321"
                     /db_xref="MIM:611765"
                     /translation="MAGSGARSEEGRRQHAFVPEPFDGANVVPNLWLHSFEVINDLNH
                     WDHITKLRFLKESLRGEALGVYNRLSPQDQGDYGTVKEALLKAFGVPGAAPSHLPKEI
                     VFANSMGKGYYLKGKIGKVPVRFLVDSGAQVSVVHPNLWEEVTDGDLDTLQPFENVVK
                     VANGAEMKILGVWDTAVSLGKLKLKAQFLVANASAEEAIIGTDVLQDHNAILDFEHRT
                     CTLKGKKFRLLPVGGSLEDEFDLELIEEDPSSEEGRQELSH"
     regulatory      1520..1525
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ASPRV1"
                     /gene_synonym="ADLI; MUNO; SASP; SASPase; Taps"
                     /note="hexamer: AATAAA"
     polyA_site      1543
                     /gene="ASPRV1"
                     /gene_synonym="ADLI; MUNO; SASP; SASPase; Taps"
                     /note="major polyA site"
ORIGIN      
        1 acagcactgc ctgcctctgc cccagcagtc agccagccga ccgcgcctgc tccctcctgc
       61 ttgcccaagg ccgggcaagt catccccact ctgcttcgag aggccccgtt ttccagcgtg
      121 attgcgccga cactgctctg tgggtttctc ttcttggcgt gggttgctgc tgaggttcca
      181 gaggagagca gcaggatggc cgggagcgga gccaggagtg aggaaggccg ccggcagcat
      241 gccttcgtcc cggaaccttt tgatggggcc aatgtcgtcc caaacctctg gctgcacagc
      301 tttgaagtca tcaatgacct caaccattgg gaccatatca ccaagctaag gttcctgaaa
      361 gagtccctca gaggagaggc cctgggtgtc tacaataggc tcagtcccca ggaccaggga
      421 gactatggga ctgtgaaaga ggccctcctg aaggcctttg gggtccctgg ggctgccccc
      481 agccacctgc ccaaagagat cgtctttgcc aacagcatgg gtaagggcta ctatctcaag
      541 gggaagattg gcaaagtgcc cgtgaggttc ctggtggact ctggggccca ggtctctgtg
      601 gtccacccaa acttgtggga ggaggtcact gatggcgatc tggacaccct gcagcccttt
      661 gagaatgtgg taaaggtggc caatggtgct gaaatgaaga tcctgggtgt ctgggataca
      721 gcggtgtccc taggcaagct gaagctgaag gcacagttcc tagtggccaa tgcgagtgcc
      781 gaggaagcca tcattggcac tgatgtgctc caggaccaca atgctatcct ggactttgag
      841 caccgcacat gcaccctgaa agggaagaag tttcgccttc tgcctgtggg agggtccctg
      901 gaagatgagt ttgacctgga gctcatagag gaggacccct cctcagaaga agggcggcag
      961 gagctatccc actgagaagc caccttttct ttaacctcct aaatattggt gggaagaccc
     1021 accgctgtgg ggggggttgc atatcctcat gggggtcact gggcttggcc agtctgctta
     1081 tcaactcttg ctcttctctc ccctttgcct ccctctgcag gggccttaat ctgcccctgg
     1141 taggggaggc ttccactgaa caggcacagg tgagggagag caggctggct tagagggaca
     1201 gggtccccat ggtcatcaag ctgctgttga tgacaaagac tcaaaggctg gaagagctcc
     1261 caaggaagct agaaatgctt gtctttgaaa gaactgtggg accccttcag attccctgag
     1321 gtatggcttg gtcactctca ggtcctcaaa gcctgtctta gttgggctgg gtcctagctg
     1381 cagggtcttt gtgagggtca cagttgctct gggacacctc cctgaagagc ctttccacct
     1441 gtacaatcgt attttctttc tgtcatttgc tttgaagccc attgtgcctt atgccaataa
     1501 ttcaattgct gcaaacacca ataaagattg attcatggaa aaa
//
