LOCUS       NM_021831               3188 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens AGBL carboxypeptidase 5 (AGBL5), transcript variant 1,
            mRNA.
ACCESSION   NM_021831 NM_001035506
VERSION     NM_021831.6
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 3188)
  AUTHORS   Chen,J., Zehr,E.A., Gruschus,J.M., Szyk,A., Liu,Y., Tanner,M.E.,
            Tjandra,N. and Roll-Mecak,A.
  TITLE     Tubulin code eraser CCP5 binds branch glutamates by substrate
            deformation
  JOURNAL   Nature 631 (8022), 905-912 (2024)
   PUBMED   39020174
  REMARK    GeneRIF: Tubulin code eraser CCP5 binds branch glutamates by
            substrate deformation.
REFERENCE   2  (bases 1 to 3188)
  AUTHORS   Paredes,D.I., Bello,N.R., Capasso,J.E., Procopio,R. and Levin,A.V.
  TITLE     Mutations in AGBL5 associated with Retinitis pigmentosa
  JOURNAL   Ophthalmic Genet 45 (3), 275-280 (2024)
   PUBMED   38078364
  REMARK    GeneRIF: Mutations in AGBL5 associated with Retinitis pigmentosa.
REFERENCE   3  (bases 1 to 3188)
  AUTHORS   Wang,Y., Zhang,Y., Guo,X., Zheng,Y., Zhang,X., Feng,S. and Wu,H.Y.
  TITLE     CCP5 and CCP6 retain CP110 and negatively regulate ciliogenesis
  JOURNAL   BMC Biol 21 (1), 124 (2023)
   PUBMED   37226238
  REMARK    GeneRIF: CCP5 and CCP6 retain CP110 and negatively regulate
            ciliogenesis.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3188)
  AUTHORS   Abu Diab,A., AlTalbishi,A., Rosin,B., Kanaan,M., Kamal,L.,
            Swaroop,A., Chowers,I., Banin,E., Sharon,D. and Khateb,S.
  TITLE     The combination of whole-exome sequencing and clinical analysis
            allows better diagnosis of rare syndromic retinal dystrophies
  JOURNAL   Acta Ophthalmol 97 (6), e877-e886 (2019)
   PUBMED   30925032
  REMARK    GeneRIF: WES identified a homozygous frameshift mutation
            (c.1787_1788del, p.His596Argfs*47) in AGBL5, associated with
            nonsyndromic RP.
REFERENCE   5  (bases 1 to 3188)
  AUTHORS   Astuti,G.D., Arno,G., Hull,S., Pierrache,L., Venselaar,H.,
            Carss,K., Raymond,F.L., Collin,R.W., Faradz,S.M., van den
            Born,L.I., Webster,A.R. and Cremers,F.P.
  TITLE     Mutations in AGBL5, Encoding alpha-Tubulin Deglutamylase, Are
            Associated With Autosomal Recessive Retinitis Pigmentosa
  JOURNAL   Invest Ophthalmol Vis Sci 57 (14), 6180-6187 (2016)
   PUBMED   27842159
  REMARK    GeneRIF: The identification of AGBL5 and TTLL5, a previously
            described RP-associated gene encoding the tubulin tyrosine
            ligase-like family, member 5 protein, highlights the importance of
            poly- and deglutamylation in retinal homeostasis.
REFERENCE   6  (bases 1 to 3188)
  AUTHORS   Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V.,
            Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
  CONSRTM   DREAM investigators
  TITLE     Variation at the NFATC2 locus increases the risk of
            thiazolidinedione-induced edema in the Diabetes REduction
            Assessment with ramipril and rosiglitazone Medication (DREAM) study
  JOURNAL   Diabetes Care 33 (10), 2250-2253 (2010)
   PUBMED   20628086
  REMARK    GeneRIF: Observational study of gene-disease association,
            gene-environment interaction, and pharmacogenomic / toxicogenomic.
            (HuGE Navigator)
REFERENCE   7  (bases 1 to 3188)
  AUTHORS   Talmud,P.J., Drenos,F., Shah,S., Shah,T., Palmen,J., Verzilli,C.,
            Gaunt,T.R., Pallas,J., Lovering,R., Li,K., Casas,J.P., Sofat,R.,
            Kumari,M., Rodriguez,S., Johnson,T., Newhouse,S.J., Dominiczak,A.,
            Samani,N.J., Caulfield,M., Sever,P., Stanton,A., Shields,D.C.,
            Padmanabhan,S., Melander,O., Hastie,C., Delles,C., Ebrahim,S.,
            Marmot,M.G., Smith,G.D., Lawlor,D.A., Munroe,P.B., Day,I.N.,
            Kivimaki,M., Whittaker,J., Humphries,S.E. and Hingorani,A.D.
  CONSRTM   ASCOT investigators; NORDIL investigators; BRIGHT Consortium
  TITLE     Gene-centric association signals for lipids and apolipoproteins
            identified via the HumanCVD BeadChip
  JOURNAL   Am J Hum Genet 85 (5), 628-642 (2009)
   PUBMED   19913121
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 3188)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   9  (bases 1 to 3188)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (bases 1 to 3188)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA901318.1 and AL833844.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_021831.5.
            
            Summary: This gene encodes a metallocarboxypeptidase involved in
            protein deglutamylation and a member of the peptidase M14 family of
            proteins. The encoded protein has been described as a
            'dual-functional' deglutamylase that can remove glutamate residues
            from both carboxyl termini and side chains of protein substrates.
            This deglutamylase activity may be important in antiviral immunity.
            Mutations in this gene are associated with retinitis pigmentosa.
            [provided by RefSeq, Jul 2016].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            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 :: AL833844.1, SRR1803614.129255.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000360131.5/ ENSP00000353249.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                DA901318.1         46-58
            14-3188             AL833844.1         1-3175
FEATURES             Location/Qualifiers
     source          1..3188
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p23.3"
     gene            1..3188
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /note="AGBL carboxypeptidase 5"
                     /db_xref="GeneID:60509"
                     /db_xref="HGNC:HGNC:26147"
                     /db_xref="MIM:615900"
     exon            1..126
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            127..387
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     CDS             173..2833
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /EC_number="3.4.17.24"
                     /note="isoform 1 is encoded by transcript variant 1;
                     cytosolic carboxypeptidase-like protein 5; cytosolic
                     carboxypeptidase 5; ATP/GTP binding protein like 5;
                     protein deglutamylase CCP5"
                     /codon_start=1
                     /product="cytosolic carboxypeptidase-like protein 5
                     isoform 1"
                     /protein_id="NP_068603.4"
                     /db_xref="CCDS:CCDS1732.3"
                     /db_xref="GeneID:60509"
                     /db_xref="HGNC:HGNC:26147"
                     /db_xref="MIM:615900"
                     /translation="MELRCGGLLFSSRFDSGNLAHVEKVESLSSDGEGVGGGASALTS
                     GIASSPDYEFNVWTRPDCAETEFENGNRSWFYFSVRGGMPGKLIKINIMNMNKQSKLY
                     SQGMAPFVRTLPTRPRWERIRDRPTFEMTETQFVLSFVHRFVEGRGATTFFAFCYPFS
                     YSDCQELLNQLDQRFPENHPTHSSPLDTIYYHRELLCYSLDGLRVDLLTITSCHGLRE
                     DREPRLEQLFPDTSTPRPFRFAGKRIFFLSSRVHPGETPSSFVFNGFLDFILRPDDPR
                     AQTLRRLFVFKLIPMLNPDGVVRGHYRTDSRGVNLNRQYLKPDAVLHPAIYGAKAVLL
                     YHHVHSRLNSQSSSEHQPSSCLPPDAPVSDLEKANNLQNEAQCGHSADRHNAEAWKQT
                     EPAEQKLNSVWIMPQQSAGLEESAPDTIPPKESGVAYYVDLHGHASKRGCFMYGNSFS
                     DESTQVENMLYPKLISLNSAHFDFQGCNFSEKNMYARDRRDGQSKEGSGRVAIYKASG
                     IIHSYTLECNYNTGRSVNSIPAACHDNGRASPPPPPAFPSRYTVELFEQVGRAMAIAA
                     LDMAECNPWPRIVLSEHSSLTNLRAWMLKHVRNSRGLSSTLNVGVNKKRGLRTPPKSH
                     NGLPVSCSENTLSRARSFSTGTSAGGSSSSQQNSPQMKNSPSFPFHGSRPAGLPGLGS
                     STQKVTHRVLGPVREPRSQDRRRQQQPLNHRPAGSLAPSPAPTSSGPASSHKLGSCLL
                     PDSFNIPGSSCSLLSSGDKPEAVMVIGKGLLGTGARMPCIKTRLQARPRLGRGSPPTR
                     RGMKGSSGPTSPTPRTRESSELELGSCSATPGLPQARPPRPRSAPAFSPISCSLSDSP
                     SWNCYSRGPLGQPEVCFVPKSPPLTVSPRV"
     exon            388..559
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            560..723
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            724..901
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            902..1080
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1537
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            1538..1707
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            1708..1843
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            1844..2046
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            2047..2261
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            2262..2414
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            2415..2527
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            2528..2661
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     exon            2662..3188
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3168..3173
                     /regulatory_class="polyA_signal_sequence"
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /note="hexamer: AATAAA"
     polyA_site      3188
                     /gene="AGBL5"
                     /gene_synonym="CCP5; RP75"
                     /note="major polyA site"
ORIGIN      
        1 agagcggggt cccggcaccg cggcgctcgg gtgtttttgg gggcccgggt ggagggcccg
       61 ggtgccgggg cccaaggtgc ggcctcgcta gcgggagagg gagcgggatc accggcccgg
      121 agagagctct cagggccaga gcggggcagg aggatgcttt cccagcccca ccatggagct
      181 gcgctgtggg ggattgctgt tcagttctcg ctttgattca gggaatctag cccacgtgga
      241 gaaggtggaa tctttgtcca gtgatgggga aggggtagga ggtggggcgt cagccctgac
      301 cagtggcatt gcctcttccc ctgactatga attcaacgtg tggacccgac cagactgtgc
      361 tgaaacggaa tttgagaatg ggaacaggtc atggttctac ttcagcgtcc ggggaggaat
      421 gccaggaaaa ctcatcaaga tcaacattat gaacatgaac aagcagagca agctgtattc
      481 ccagggcatg gccccctttg tgcgcacact gcccacccgg ccacgctggg aacgcattcg
      541 agaccggccc acctttgaga tgacagagac gcagtttgtg ttatcctttg ttcatcgttt
      601 cgtggagggc cgtggggcca ccaccttctt cgccttctgc taccccttct cctacagtga
      661 ctgccaggaa ctgctaaacc agctagacca gcgctttccg gagaaccacc ctacccatag
      721 cagccccctg gataccatct attaccatcg ggagctcctt tgctattctc tggatggact
      781 tcgtgtagat ctgctgacga tcacttcctg ccatgggctt cgagaagatc gagagccccg
      841 tctagagcag ctatttcctg ataccagcac ccctcgacca ttccgtttcg caggcaagag
      901 gatattcttc ttaagcagta gagtacaccc aggggagact ccatctagct ttgtcttcaa
      961 tggctttctg gacttcatcc tccgacctga tgatccccgg gcccaaaccc tccgtcgcct
     1021 cttcgtcttt aagctgattc ccatgttgaa ccccgatggt gtggtccggg gacactaccg
     1081 cacagactca cgtggagtga atctgaaccg tcagtacctg aagcctgatg ccgtcctgca
     1141 cccggccatc tatggggcca aagctgtgct tctctaccac catgtgcact ctcgtctgaa
     1201 ctcccagagt tcctctgagc accagcccag ttcctgtctc cctcctgatg ctcctgtttc
     1261 tgacctggag aaagccaaca atctccaaaa tgaagctcag tgtgggcact cagctgacag
     1321 gcataacgct gaagcctgga aacaaacaga gccagcagaa cagaagctca acagtgtgtg
     1381 gattatgcca caacagtctg cggggcttga agagtcagcc cctgatacca tcccccccaa
     1441 agagagtggc gttgcttact atgtggacct gcatggacat gcttccaaaa ggggctgctt
     1501 catgtacgga aacagcttta gtgatgagag cacccaggtg gaaaacatgc tatatccaaa
     1561 gctcatctcc ttgaattcag cccacttcga cttccagggc tgcaatttct cagagaagaa
     1621 tatgtatgcc cgagaccgta gagatggcca gtctaaagag ggaagcggcc gtgttgcaat
     1681 ctacaaagcc tcagggataa tccacagcta cacacttgaa tgcaactaca acactggacg
     1741 ctcagtaaac agcatccctg ctgcctgcca tgacaatggg cgtgccagcc cccctccccc
     1801 gccggctttc ccctccagat acactgtgga actatttgag caggtgggac gagctatggc
     1861 cattgcagcc ctggacatgg cggaatgtaa tccgtggccc cgaattgtac tgtcagagca
     1921 cagcagcctt actaatctac gggcctggat gctgaaacat gtacgcaaca gccgaggcct
     1981 aagcagcact ctgaatgtgg gtgtcaacaa gaagaggggc cttcgaactc cacccaaaag
     2041 tcacaatggg ttgcctgtct cctgctccga aaacaccttg agtcgggcac gaagttttag
     2101 caccggcaca agtgccggtg gtagcagcag cagccaacaa aattctccac agatgaagaa
     2161 ttcccccagc tttccttttc atggcagtcg gcctgcaggg ctgccaggcc tgggctctag
     2221 tacccaaaag gtcacccacc gggtgctggg ccccgtcaga gagccccgaa gccaggacag
     2281 gagacggcag cagcagcccc tgaaccatcg tcctgcaggc agcctcgctc catccccagc
     2341 tcctactagt tctggcccag cctcctcaca caagctgggc tcctgtctac tgcctgattc
     2401 attcaacata ccagggagca gttgctcact cttgtcctct ggagacaaac cagaggctgt
     2461 catggtaatc gggaaaggtc tgctagggac tggagctcgg atgccctgca tcaagactcg
     2521 attgcaggct aggcccaggt tgggccgggg ctcaccgccg actcgcagag ggatgaaagg
     2581 ctcttcaggc cccacatccc ctaccccccg gaccagggag agcagtgagc tggagctggg
     2641 atcctgctct gctacaccag ggctgcctca ggccaggccc ccacggcccc gctctgcccc
     2701 tgccttttct cctatatcct gtagtctatc tgactcccca tcctggaatt gttacagcag
     2761 gggtcccttg ggccaacctg aggtttgttt tgtccctaaa tctcccccac tgactgtttc
     2821 tccccgggtc tgataatgcc tttatgttca agcccaggat atagccccaa gatggggtaa
     2881 cagtgggaaa tatgctagtt cccctccagg ccgctgattc catgtgacag ccgttaagtc
     2941 cttggaatgc cagccacgct gtccaaggca ttacagagta tcaccttgag acagaacaaa
     3001 acagggacct gccacccctt ccctccctcc gcagcacaag attttgggac cacaaaaaaa
     3061 agtctatatt tttatattgg ggggagggag tagaaaagca agcccctata ctgggcccta
     3121 ttcagtggca gcttcttgtt ccataggatt aaggaagact ctgaggaaat aaaagttgtt
     3181 tggaaaaa
//
