LOCUS       NM_004181               1103 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens ubiquitin C-terminal hydrolase L1 (UCHL1), mRNA.
ACCESSION   NM_004181
VERSION     NM_004181.5
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 1103)
  AUTHORS   Pan,H., Song,J., An,Q., Chen,J., Zheng,W., Zhang,L., Gu,J., Deng,C.
            and Yang,B.
  TITLE     Inhibition of Ubiquitin C-Terminal Hydrolase L1 Facilitates
            Cutaneous Wound Healing via Activating TGF-beta/Smad Signalling
            Pathway in Fibroblasts
  JOURNAL   Exp Dermatol 33 (10), e15186 (2024)
   PUBMED   39367569
  REMARK    GeneRIF: Inhibition of Ubiquitin C-Terminal Hydrolase L1
            Facilitates Cutaneous Wound Healing via Activating TGF-beta/Smad
            Signalling Pathway in Fibroblasts.
REFERENCE   2  (bases 1 to 1103)
  AUTHORS   Ferreira,S.G.F., Sriramoju,M.K., Hsu,S.D., Faisca,P.F.N. and
            Machuqueiro,M.
  TITLE     Is There a Functional Role for the Knotted Topology in Protein
            UCH-L1?
  JOURNAL   J Chem Inf Model 64 (17), 6827-6837 (2024)
   PUBMED   39045738
  REMARK    GeneRIF: Is There a Functional Role for the Knotted Topology in
            Protein UCH-L1?
REFERENCE   3  (bases 1 to 1103)
  AUTHORS   Marelli,C., Ramond,F., Vignal,C., Blanchet,C., Frost,S., Hao,Q.,
            Bocquet,B., Nadjar,Y., Leboucq,N., Taieb,G., Benkirane,M.,
            Hersent,C., Koenig,M. and Meunier,I.
  TITLE     Phenotypic variability related to dominant UCHL1 mutations: about
            three families with optic atrophy and ataxia
  JOURNAL   J Neurol 271 (9), 6038-6044 (2024)
   PUBMED   39030458
  REMARK    GeneRIF: Phenotypic variability related to dominant UCHL1
            mutations: about three families with optic atrophy and ataxia.
REFERENCE   4  (bases 1 to 1103)
  AUTHORS   Liang,Z., Damianou,A., Vendrell,I., Jenkins,E., Lassen,F.H.,
            Washer,S.J., Grigoriou,A., Liu,G., Yi,G., Lou,H., Cao,F., Zheng,X.,
            Fernandes,R.A., Dong,T., Tate,E.W., Di Daniel,E. and Kessler,B.M.
  TITLE     Proximity proteomics reveals UCH-L1 as an essential regulator of
            NLRP3-mediated IL-1beta production in human macrophages and
            microglia
  JOURNAL   Cell Rep 43 (5), 114152 (2024)
   PUBMED   38669140
  REMARK    GeneRIF: Proximity proteomics reveals UCH-L1 as an essential
            regulator of NLRP3-mediated IL-1beta production in human
            macrophages and microglia.
REFERENCE   5  (bases 1 to 1103)
  AUTHORS   Buneeva,O. and Medvedev,A.
  TITLE     Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in
            Parkinson's Disease
  JOURNAL   Int J Mol Sci 25 (2), 1303 (2024)
   PUBMED   38279302
  REMARK    GeneRIF: Ubiquitin Carboxyl-Terminal Hydrolase L1 and Its Role in
            Parkinson's Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1103)
  AUTHORS   Cook Shukla,L., Schulze,J., Farlow,J., Pankratz,N.D., Wojcieszek,J.
            and Foroud,T.
  TITLE     Parkinson Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301402
REFERENCE   7  (bases 1 to 1103)
  AUTHORS   Rasmussen,H.H., van Damme,J., Puype,M., Gesser,B., Celis,J.E. and
            Vandekerckhove,J.
  TITLE     Microsequences of 145 proteins recorded in the two-dimensional gel
            protein database of normal human epidermal keratinocytes
  JOURNAL   Electrophoresis 13 (12), 960-969 (1992)
   PUBMED   1286667
REFERENCE   8  (bases 1 to 1103)
  AUTHORS   Edwards,Y.H., Fox,M.F., Povey,S., Hinks,L.J., Thompson,R.J. and
            Day,I.N.
  TITLE     The gene for human neurone specific ubiquitin C-terminal hydrolase
            (UCHL1, PGP9.5) maps to chromosome 4p14
  JOURNAL   Ann Hum Genet 55 (4), 273-278 (1991)
   PUBMED   1840236
REFERENCE   9  (bases 1 to 1103)
  AUTHORS   Honore,B., Rasmussen,H.H., Vandekerckhove,J. and Celis,J.E.
  TITLE     Neuronal protein gene product 9.5 (IEF SSP 6104) is expressed in
            cultured human MRC-5 fibroblasts of normal origin and is strongly
            down-regulated in their SV40 transformed counterparts
  JOURNAL   FEBS Lett 280 (2), 235-240 (1991)
   PUBMED   1849484
REFERENCE   10 (bases 1 to 1103)
  AUTHORS   Day,I.N., Hinks,L.J. and Thompson,R.J.
  TITLE     The structure of the human gene encoding protein gene product 9.5
            (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase
  JOURNAL   Biochem J 268 (2), 521-524 (1990)
   PUBMED   2163617
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP202166.1, BC000332.2 and
            AC095043.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_004181.4.
            
            Summary: The protein encoded by this gene belongs to the peptidase
            C12 family. This enzyme is a thiol protease that hydrolyzes a
            peptide bond at the C-terminal glycine of ubiquitin. This gene is
            specifically expressed in the neurons and in cells of the diffuse
            neuroendocrine system. Mutations in this gene may be associated
            with Parkinson disease.[provided by RefSeq, Sep 2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.231640.1,
                                           SRR7410570.231655.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000284440.9/ ENSP00000284440.4
            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
            1-399               BP202166.1         48-446
            400-1077            BC000332.2         416-1093
            1078-1103           AC095043.3         40308-40333
FEATURES             Location/Qualifiers
     source          1..1103
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p13"
     gene            1..1103
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /note="ubiquitin C-terminal hydrolase L1"
                     /db_xref="GeneID:7345"
                     /db_xref="HGNC:HGNC:12513"
                     /db_xref="MIM:191342"
     exon            1..82
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..721
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /EC_number="3.4.19.12"
                     /note="neuron cytoplasmic protein 9.5; epididymis
                     secretory protein Li 53; ubiquitin carboxyl-terminal
                     esterase L1 (ubiquitin thiolesterase); epididymis luminal
                     protein 117; ubiquitin thioesterase L1"
                     /codon_start=1
                     /product="ubiquitin carboxyl-terminal hydrolase isozyme
                     L1"
                     /protein_id="NP_004172.2"
                     /db_xref="CCDS:CCDS3462.1"
                     /db_xref="GeneID:7345"
                     /db_xref="HGNC:HGNC:12513"
                     /db_xref="MIM:191342"
                     /translation="MQLKPMEINPEMLNKVLSRLGVAGQWRFVDVLGLEEESLGSVPA
                     PACALLLLFPLTAQHENFRKKQIEELKGQEVSPKVYFMKQTIGNSCGTIGLIHAVANN
                     QDKLGFEDGSVLKQFLSETEKMSPEDRAKCFEKNEAIQAAHDAVAQEGQCRVDDKVNF
                     HFILFNNVDGHLYELDGRMPFPVNHGASSEDTLLKDAAKVCREFTEREQGEVRFSAVA
                     LCKAA"
     exon            83..94
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     exon            95..223
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     exon            224..374
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     exon            375..460
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     exon            461..508
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     exon            509..575
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     exon            576..634
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     exon            635..1103
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1052..1057
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /note="hexamer: AATAAA"
     polyA_site      1077
                     /gene="UCHL1"
                     /gene_synonym="HEL-117; HEL-S-53; NDGOA; PARK5; PGP 9.5;
                     PGP9.5; PGP95; SPG79; SPG79A; Uch-L1; UCHL-1"
                     /note="major polyA site"
ORIGIN      
        1 agctgttttt cgtcttccct aggctatttc tgccgggcgc tccgcgaaga tgcagctcaa
       61 gccgatggag atcaaccccg agatgctgaa caaagtgctg tcccggctgg gggtcgccgg
      121 ccagtggcgc ttcgtggacg tgctggggct ggaagaggag tctctgggct cggtgccagc
      181 gcctgcctgc gcgctgctgc tgctgtttcc cctcacggcc cagcatgaga acttcaggaa
      241 aaagcagatt gaagagctga agggacaaga agttagtcct aaagtgtact tcatgaagca
      301 gaccattggg aattcctgtg gcacaatcgg acttattcac gcagtggcca ataatcaaga
      361 caaactggga tttgaggatg gatcagttct gaaacagttt ctttctgaaa cagagaaaat
      421 gtcccctgaa gacagagcaa aatgctttga aaagaatgag gccatacagg cagcccatga
      481 tgccgtggca caggaaggcc aatgtcgggt agatgacaag gtgaatttcc attttattct
      541 gtttaacaac gtggatggcc acctctatga acttgatgga cgaatgcctt ttccggtgaa
      601 ccatggcgcc agttcagagg acaccctgct gaaggacgct gccaaggtct gcagagaatt
      661 caccgagcgt gagcaaggag aagtccgctt ctctgccgtg gctctctgca aggcagccta
      721 atgctctgtg ggagggactt tgctgatttc ccctcttccc ttcaacatga aaatatatac
      781 ccccccatgc agtctaaaat gcttcagtac ttgtgaaaca cagctgttct tctgttctgc
      841 agacacgcct tcccctcagc cacacccagg cacttaagca caagcagagt gcacagctgt
      901 ccactgggcc attgtggtgt gagcttcaga tggtgaagca ttctccccag tgtatgtctt
      961 gtatccgata tctaacgctt taaatggcta ctttggtttc tgtctgtaag ttaagacctt
     1021 ggatgtggtt taattgtttg tcctcaaaag gaataaaact tttctgctga taagatagcc
     1081 acagctgatt ctcattttct ttt
//
