LOCUS       NM_001001991            2723 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens peptidase domain containing associated with muscle
            regeneration 1 (PAMR1), transcript variant 2, mRNA.
ACCESSION   NM_001001991
VERSION     NM_001001991.3
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 2723)
  AUTHORS   Lo,P.H., Tanikawa,C., Katagiri,T., Nakamura,Y. and Matsuda,K.
  TITLE     Identification of novel epigenetically inactivated gene PAMR1 in
            breast carcinoma
  JOURNAL   Oncol Rep 33 (1), 267-273 (2015)
   PUBMED   25370079
  REMARK    GeneRIF: PAMR1 is a putative tumor suppressor which is frequently
            inactivated by promoter hypermethylation in breast cancer tissues.
REFERENCE   2  (bases 1 to 2723)
  AUTHORS   Wang,H., St Julien,K.R., Stevenson,D.K., Hoffmann,T.J., Witte,J.S.,
            Lazzeroni,L.C., Krasnow,M.A., Quaintance,C.C., Oehlert,J.W.,
            Jelliffe-Pawlowski,L.L., Gould,J.B., Shaw,G.M. and O'Brodovich,H.M.
  TITLE     A genome-wide association study (GWAS) for bronchopulmonary
            dysplasia
  JOURNAL   Pediatrics 132 (2), 290-297 (2013)
   PUBMED   23897914
REFERENCE   3  (bases 1 to 2723)
  AUTHORS   Brandler,W.M., Morris,A.P., Evans,D.M., Scerri,T.S., Kemp,J.P.,
            Timpson,N.J., St Pourcain,B., Smith,G.D., Ring,S.M., Stein,J.,
            Monaco,A.P., Talcott,J.B., Fisher,S.E., Webber,C. and Paracchini,S.
  TITLE     Common variants in left/right asymmetry genes and pathways are
            associated with relative hand skill
  JOURNAL   PLoS Genet 9 (9), e1003751 (2013)
   PUBMED   24068947
REFERENCE   4  (bases 1 to 2723)
  AUTHORS   Nakayama,Y., Nara,N., Kawakita,Y., Takeshima,Y., Arakawa,M.,
            Katoh,M., Morita,S., Iwatsuki,K., Tanaka,K., Okamoto,S.,
            Kitamura,T., Seki,N., Matsuda,R., Matsuo,M., Saito,K. and Hara,T.
  TITLE     Cloning of cDNA encoding a regeneration-associated muscle protease
            whose expression is attenuated in cell lines derived from Duchenne
            muscular dystrophy patients
  JOURNAL   Am J Pathol 164 (5), 1773-1782 (2004)
   PUBMED   15111323
  REMARK    GeneRIF: RAMP may play a role in the regeneration of skeletal
            muscle, and its down-regulation could be involved in the
            progression of Duchenne muscular dystrophy
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BX640676.1, BC089434.1 and AY358346.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001001991.2.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1, resulting
            in an isoform (b) that is shorter than isoform a.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY358346.1, BX640676.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000619888.5/ ENSP00000483703.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1563              BX640676.1         416-1978
            1564-2377           BC089434.1         1622-2435
            2378-2723           AY358346.1         2372-2717
FEATURES             Location/Qualifiers
     source          1..2723
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p13"
     gene            1..2723
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="peptidase domain containing associated with muscle
                     regeneration 1"
                     /db_xref="GeneID:25891"
                     /db_xref="HGNC:HGNC:24554"
     exon            1..104
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     CDS             32..2194
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="isoform b precursor is encoded by transcript
                     variant 2; regeneration associated muscle protease;
                     inactive serine protease PAMR1; regeneration-associated
                     muscle protease homolog; peptidase domain-containing
                     protein associated with muscle regeneration 1"
                     /codon_start=1
                     /product="inactive serine protease PAMR1 isoform b
                     precursor"
                     /protein_id="NP_001001991.1"
                     /db_xref="CCDS:CCDS31460.1"
                     /db_xref="GeneID:25891"
                     /db_xref="HGNC:HGNC:24554"
                     /translation="MELGCWTQLGLTFLQLLLISSLPREYTVINEACPGAEWNIMCRE
                     CCEYDQIECVCPGKREVVGYTIPCCRNEENECDSCLIHPGCTIFENCKSCRNGSWGGT
                     LDDFYVKGFYCAECRAGWYGGDCMRCGQVLRAPKGQILLESYPLNAHCEWTIHAKPGF
                     VIQLRFVMLSLEFDYMCQYDYVEVRDGDNRDGQIIKRVCGNERPAPIQSIGSSLHVLF
                     HSDGSKNFDGFHAIYEEITACSSSPCFHDGTCVLDKAGSYKCACLAGYTGQRCENLLE
                     ERNCSDPGGPVNGYQKITGGPGLINGRHAKIGTVVSFFCNNSYVLSGNEKRTCQQNGE
                     WSGKQPICIKACREPKISDLVRRRVLPMQVQSRETPLHQLYSAAFSKQKLQSAPTKKP
                     ALPFGDLPMGYQHLHTQLQYECISPFYRRLGSSRRTCLRTGKWSGRAPSCIPICGKIE
                     NITAPKTQGLRWPWQAAIYRRTSGVHDGSLHKGAWFLVCSGALVNERTVVVAAHCVTD
                     LGKVTMIKTADLKVVLGKFYRDDDRDEKTIQSLQISAIILHPNYDPILLDADIAILKL
                     LDKARISTRVQPICLAASRDLSTSFQESHITVAGWNVLADVRSPGFKNDTLRSGVVSV
                     VDSLLCEEQHEDHGIPVSVTDNMFCASWEPTAPSDICTAETGGIAAVSFPGRASPEPR
                     WHLMGLVSWSYDKTCSHRLSTAFTKVLPFKDWIERNMK"
     exon            105..281
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            282..410
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            411..525
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            526..743
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            744..851
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            852..1064
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1065..1131
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1132..1364
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1365..1657
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..2723
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2696..2701
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="hexamer: AATAAG"
     polyA_site      2723
                     /gene="PAMR1"
                     /gene_synonym="DKFZP586H2123; FP938; RAMP"
                     /note="major polyA site"
ORIGIN      
        1 agtagacgct cgggcaccag ccgcggcaag gatggagctg ggttgctgga cgcagttggg
       61 gctcactttt cttcagctcc ttctcatctc gtccttgcca agagagtaca cagtcattaa
      121 tgaagcctgc cctggagcag agtggaatat catgtgtcgg gagtgctgtg aatatgatca
      181 gattgagtgc gtctgccccg gaaagaggga agtcgtgggt tataccatcc cttgctgcag
      241 gaatgaggag aatgagtgtg actcctgcct gatccaccca ggttgtacca tctttgaaaa
      301 ctgcaagagc tgccgaaatg gctcatgggg gggtaccttg gatgacttct atgtgaaggg
      361 gttctactgt gcagagtgcc gagcaggctg gtacggagga gactgcatgc gatgtggcca
      421 ggttctgcga gccccaaagg gtcagatttt gttggaaagc tatcccctaa atgctcactg
      481 tgaatggacc attcatgcta aacctgggtt tgtcatccaa ctaagatttg tcatgttgag
      541 cctggagttt gactacatgt gccagtatga ctatgttgag gttcgtgatg gagacaaccg
      601 cgatggccag atcatcaagc gtgtctgtgg caacgagcgg ccagctccta tccagagcat
      661 aggatcctca ctccacgtcc tcttccactc cgatggctcc aagaattttg acggtttcca
      721 tgccatttat gaggagatca cagcatgctc ctcatcccct tgtttccatg acggcacgtg
      781 cgtccttgac aaggctggat cttacaagtg tgcctgcttg gcaggctata ctgggcagcg
      841 ctgtgaaaat ctccttgaag aaagaaactg ctcagaccct gggggcccag tcaatgggta
      901 ccagaaaata acagggggcc ctgggcttat caacggacgc catgctaaaa ttggcaccgt
      961 ggtgtctttc ttttgtaaca actcctatgt tcttagtggc aatgagaaaa gaacttgcca
     1021 gcagaatgga gagtggtcag ggaaacagcc catctgcata aaagcctgcc gagaaccaaa
     1081 gatttcagac ctggtgagaa ggagagttct tccgatgcag gttcagtcaa gggagacacc
     1141 attacaccag ctatactcag cggccttcag caagcagaaa ctgcagagtg cccctaccaa
     1201 gaagccagcc cttccctttg gagatctgcc catgggatac caacatctgc atacccagct
     1261 ccagtatgag tgcatctcac ccttctaccg ccgcctgggc agcagcagga ggacatgtct
     1321 gaggactggg aagtggagtg ggcgggcacc atcctgcatc cctatctgcg ggaaaattga
     1381 gaacatcact gctccaaaga cccaagggtt gcgctggccg tggcaggcag ccatctacag
     1441 gaggaccagc ggggtgcatg acggcagcct acacaaggga gcgtggttcc tagtctgcag
     1501 cggtgccctg gtgaatgagc gcactgtggt ggtggctgcc cactgtgtta ctgacctggg
     1561 gaaggtcacc atgatcaaga cagcagacct gaaagttgtt ttggggaaat tctaccggga
     1621 tgatgaccgg gatgagaaga ccatccagag cctacagatt tctgctatca ttctgcatcc
     1681 caactatgac cccatcctgc ttgatgctga catcgccatc ctgaagctcc tagacaaggc
     1741 ccgtatcagc acccgagtcc agcccatctg cctcgctgcc agtcgggatc tcagcacttc
     1801 cttccaggag tcccacatca ctgtggctgg ctggaatgtc ctggcagacg tgaggagccc
     1861 tggcttcaag aacgacacac tgcgctctgg ggtggtcagt gtggtggact cgctgctgtg
     1921 tgaggagcag catgaggacc atggcatccc agtgagtgtc actgataaca tgttctgtgc
     1981 cagctgggaa cccactgccc cttctgatat ctgcactgca gagacaggag gcatcgcggc
     2041 tgtgtccttc ccgggacgag catctcctga gccacgctgg catctgatgg gactggtcag
     2101 ctggagctat gataaaacat gcagccacag gctctccact gccttcacca aggtgctgcc
     2161 ttttaaagac tggattgaaa gaaatatgaa atgaaccatg ctcatgcact ccttgagaag
     2221 tgtttctgta tatccgtctg tacgtgtgtc attgcgtgaa gcagtgtggg cctgaagtgt
     2281 gatttggcct gtgaacttgg ctgtgccagg gcttctgact tcagggacaa aactcagtga
     2341 agggtgagta gacctccatt gctggtaggc tgatgccgcg tccactacta ggacagccaa
     2401 ttggaagatg ccagggcttg caagaagtaa gtttcttcaa agaagaccat atacaaaacc
     2461 tctccactcc actgacctgg tggtcttccc caactttcag ttatacgaat gccatcagct
     2521 tgaccaggga agatctgggc ttcatgaggc cccttttgag gctctcaagt tctagagagc
     2581 tgcctgtggg acagcccagg gcagcagagc tgggatgtgg tgcatgcctt tgtgtacatg
     2641 gccacagtac agtctggtcc ttttccttcc ccatctcttg tacacatttt aataaaataa
     2701 gggttggctt ctgaactaca aaa
//
