LOCUS       NM_001161546            4513 bp    mRNA    linear   PRI 03-AUG-2024
DEFINITION  Homo sapiens proline rich basic protein 1 (PROB1), mRNA.
ACCESSION   NM_001161546 XM_001721165 XM_001722732 XM_374142
VERSION     NM_001161546.2
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 4513)
  AUTHORS   Karolak,J.A., Gambin,T., Pitarque,J.A., Molinari,A., Jhangiani,S.,
            Stankiewicz,P., Lupski,J.R. and Gajecka,M.
  TITLE     Variants in SKP1, PROB1, and IL17B genes at keratoconus
            5q31.1-q35.3 susceptibility locus identified by whole-exome
            sequencing
  JOURNAL   Eur J Hum Genet 25 (1), 73-78 (2017)
   PUBMED   27703147
  REMARK    GeneRIF: Segregation analysis revealed that variants c.475T>G in
            SKP1, c.671G>A in PROB1, and c.527G>A in IL17B in the 5q31.1-q35.3
            linkage region, and c.850G>A in HKDC1 in the 10q22 locus completely
            segregated with the phenotype in the studied Keratoconus family
REFERENCE   2  (bases 1 to 4513)
  AUTHORS   Graubert,T.A., Payton,M.A., Shao,J., Walgren,R.A., Monahan,R.S.,
            Frater,J.L., Walshauser,M.A., Martin,M.G., Kasai,Y. and Walter,M.J.
  TITLE     Integrated genomic analysis implicates haploinsufficiency of
            multiple chromosome 5q31.2 genes in de novo myelodysplastic
            syndromes pathogenesis
  JOURNAL   PLoS One 4 (2), e4583 (2009)
   PUBMED   19240791
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AW576390.1, AC135457.2 and AK316483.1.
            
            On May 17, 2019 this sequence version replaced NM_001161546.1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000434752.4/ ENSP00000416033.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-314               AW576390.1         93-406
            315-2311            AC135457.2         29136-31132         c
            2312-3159           AK316483.1         619-1466
            3160-4513           AC135457.2         26934-28287         c
FEATURES             Location/Qualifiers
     source          1..4513
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q31.2"
     gene            1..4513
                     /gene="PROB1"
                     /gene_synonym="C5orf65"
                     /note="proline rich basic protein 1"
                     /db_xref="GeneID:389333"
                     /db_xref="HGNC:HGNC:41906"
     exon            1..4513
                     /gene="PROB1"
                     /gene_synonym="C5orf65"
                     /inference="alignment:Splign:2.1.0"
     CDS             24..3071
                     /gene="PROB1"
                     /gene_synonym="C5orf65"
                     /note="weakly similar to basic proline-rich protein"
                     /codon_start=1
                     /product="proline-rich basic protein 1"
                     /protein_id="NP_001155018.1"
                     /db_xref="CCDS:CCDS54909.1"
                     /db_xref="GeneID:389333"
                     /db_xref="HGNC:HGNC:41906"
                     /translation="MLTALAPPALPGIPRQLPTAPARRQDSSGSSGSYYTAPGSPEPP
                     DVGPDAKGPANWPWVAPGRGAGAQPRLSVSAQNSRQRHGPGSGFPRGPGSGPRPPQPQ
                     LRTLPSGEMEVIFGVGPLFGCSGADDREAQQQFTEPAFISPLPPGPASPAAVPRQSQV
                     PDGGSRWATYLELRPRGPSPAAPAQFECVEVALEEGAAPARPRTVPKRQIELRPRPQS
                     PPRAAGAPRPRLLLRTGSLDESLGPLQAAAGFVQTALARKLSPEAPAPSSATFGSTGR
                     SEPETRETARSTHVVLEKAKSRPLRVRDNSAPAKAPRPWPSLRERAIRRDKPAPGTEP
                     LGPVSSSIFLQSEEKIQEARKTRFPREAPDRTVQRARSPPFECRIPSEVPSRAVRPRS
                     PSPPRQTPNGAVRGPRCPSPQNLSPWDRTTRRVSSPLFPEASSEWENQNPAVEETVSR
                     RSPSPPILSQWNQCVAGERSPSLEAPSLWEIPHSAVADAVEPRSSPSPPAFFPWEAPD
                     RPIGTWGPSPQETWDPMGPGSSIAFTQEAQNGLTQEELAPPTPSAPGTPEPTEMQSPS
                     TREISDLAFGGSQQSPEVAAPEPPGSHPVGTLDADKCPEVLGPGEAASGRPRMAIPRP
                     RDVRKLVKTTYAPGFPAGAQGSGLPAPPADPCGEEGGESKTQEPPALGPPAPAHYTSV
                     FIKDFLPVVPHPYEPPEPSFDTVARDASQPNGVLRRRAENSTAKPFKRTEIRLPGALA
                     LGRRPEVTSRVRARGPGGENRDVEAQRLVPDGDGRTSPLGGARSSSQRSPVGPAGVRS
                     PRPGSPQMQASPSPGIAPKPKTPPTAPEPAAAVQAPLPREPLALAGRTAPAQPRAASA
                     PPTDRSPQSPSQGARRQPGAAPLGKVLVDPESGRYYFVEAPRQPRLRVLFDPESGQYV
                     EVLLPPSSPGPPHRVYTPLALGLGLYPPAYGPIPSLSLPPSPGPQALGSPQLPWVSEA
                     GPLDGTYYLPVSGTPNPAPPLLLCAPPSSSGPTQPGKGSLFPL"
     regulatory      4475..4480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="PROB1"
                     /gene_synonym="C5orf65"
                     /note="hexamer: AATAAA"
     polyA_site      4513
                     /gene="PROB1"
                     /gene_synonym="C5orf65"
                     /note="major polyA site"
ORIGIN      
        1 agtgcacggc gtccggcccc accatgctga ccgcgctcgc cccgccagcc ctgcctggga
       61 tcccgaggca gctgcccacg gcccccgcgc ggcgccagga ctcctccggt tcgtcaggct
      121 cctactacac ggctccaggt tctccggagc ccccggacgt tgggccggac gcgaaaggcc
      181 cagcgaattg gccctgggtg gctcctgggc ggggggcggg cgcgcagcct cgcctgtccg
      241 tcagcgccca gaatagccgc cagcggcacg ggcccggctc gggtttcccg cgaggcccag
      301 gttccggccc acggccaccc cagccccagc tgcgcacgct gccgtcgggg gagatggaag
      361 tcatcttcgg cgtcggaccc ctgttcggct gctccggcgc agacgatcgc gaggcgcaac
      421 aacagttcac ggagccggcc ttcatcagcc ccttgccgcc ggggccagcg tctcccgccg
      481 cggtcccacg ccagtcccag gtccccgatg gtggctcccg ctgggccacc tacctagagc
      541 tgcggccccg tgggccaagt cctgccgccc cagcgcagtt cgagtgtgtg gaggtggctc
      601 tggaggaggg cgccgcgccc gccaggcccc ggacagtgcc caagcgtcag atcgagctgc
      661 gcccccggcc ccagagtccc ccaagggcgg ccggcgcgcc gcgcccccgg ctgctcctgc
      721 gcaccggttc cctggacgag tcgctgggcc ccctgcaggc cgccgcgggc ttcgtgcaga
      781 cggcgttggc cagaaaactg agccccgagg ccccggcccc gagcagcgcc accttcgggt
      841 ccacggggcg gtcggaacct gagacccggg aaacggcccg cagcacccac gtggtcctgg
      901 agaaggctaa gtctcggcca cttcgcgtac gagataattc ggcccccgcc aaggccccga
      961 ggccgtggcc cagcctccgc gagcgcgcga ttcggcgcga caagcctgcg cccgggacgg
     1021 agccgctggg tcctgttagt tccagcatct tccttcagtc agaggagaag atccaggagg
     1081 cgcggaagac tcggttcccg cgagaggcgc cggatcgaac tgttcagagg gcacggagtc
     1141 cgccttttga gtgtaggatc ccctcggagg ttccgagtag ggctgtgagg ccaaggagcc
     1201 cgtccccgcc acggcagact ccaaatgggg ctgtacgggg tcctcgctgc ccgtcgcccc
     1261 agaacctgtc cccgtgggat cggactactc ggagggtgag tagcccattg ttccctgaag
     1321 cctcctccga gtgggaaaat caaaatcctg ccgtcgagga aactgtcagc aggagaagcc
     1381 cttcccctcc gatcctttcc cagtggaatc agtgtgttgc tggggaaagg agcccgtccc
     1441 tcgaagcccc ttccctgtgg gagattccac attcggcagt cgcggatgcg gtggagccac
     1501 gtagcagccc gtccccgccg gccttcttcc cgtgggaggc tccagatcgt cctattggaa
     1561 cttggggccc atctccccaa gagacatggg atcccatggg gccgggctca tcgatagcat
     1621 ttactcagga agctcagaat gggttaactc aggaggagtt ggcaccgcct acaccgtccg
     1681 cacccggcac tccagaacca acagagatgc agagtccatc cacgcgggaa atttcagatc
     1741 ttgcctttgg agggagtcag cagtccccag aggtagcagc acccgagccg cccggcagcc
     1801 accctgtggg caccctggac gcggataagt gcccggaagt cttgggtcct ggagaggcgg
     1861 cctcgggacg cccgcgcatg gccattccgc ggcctcgaga cgtgcgcaag ttggtgaaga
     1921 ccacgtacgc gccaggcttc ccggcaggag cacaaggctc tgggctgcct gcgcctcctg
     1981 ccgacccctg cggggaggag ggcggcgaat ccaagacgca agagccgcca gcactggggc
     2041 cccccgcccc ggctcactac acttccgttt tcatcaagga ttttctaccg gtggtgccgc
     2101 acccctacga gcctcctgaa ccgtccttcg acacggtcgc ccgggacgcc tcacagccca
     2161 acggggtcct gcggcggagg gcagagaaca gcacggcgaa gcccttcaag cgcacagaga
     2221 tccgcctgcc tggggccctg gccttgggtc gccggcccga ggtaacctcg cgagtgcgag
     2281 cgcgcggccc tggaggagag aacagggatg tagaggccca gcgcctggtc cccgacggcg
     2341 acggtcggac cagccctcta ggcggcgccc gcagctcatc ccagcgctcc cccgtagggc
     2401 cagcaggggt ccgatcgccc cgccccggct cccctcagat gcaagccagc ccgagccctg
     2461 ggatagcacc caaaccgaag acaccaccta cggcccccga gcccgcggct gccgtccagg
     2521 cgccactccc gcgggagccc ctggcgttgg cgggcaggac ggccccagcc cagccccgcg
     2581 ctgcctcggc gcctcccacg gaccggtccc cgcaaagccc ctcccaggga gcgcgcaggc
     2641 agcccggggc cgcgcccctg gggaaggtct tggtggaccc cgagagcggc cgctactact
     2701 ttgtggaggc gccgcggcag cctcggctgc gggtgctctt cgaccctgag agtgggcagt
     2761 acgtggaggt gttgctgccg ccctcgtctc ccgggccgcc ccaccgcgtc tacacccctc
     2821 tggccctggg gctcggcctc tacccgcccg cctatgggcc tatacccagc ctctctctgc
     2881 caccgtcccc gggcccgcag gccctcggca gcccccagct accctgggtc tctgaggcag
     2941 ggcccctgga cgggacctac tacctgccgg tgagcgggac ccccaacccc gcacctcctc
     3001 tgctcctctg tgcgccgccc tccagctcag gtcccaccca gcccggcaag ggttcattgt
     3061 tcccgctgtg aggccccggg ccgatcccca tggagttgga gcccttggat gcctgggagg
     3121 ttctggcatc caagccccta ccctcctctc cttccgtcgc ctctgtcttt aacccatccc
     3181 agtcagtcgt cggacaggaa gtgatcttca gagaatgaat ctgagccccg aggctggtgg
     3241 agctggagtc acccaggaag tggctgccta cttcctcccc caacaaaatt atgtatccct
     3301 ttcccaggca ttcccagggc gtggtgtggt gtggtgtgtg ggtgtgtgta tatgtgtata
     3361 tgcgggcaag caaataggga aagtgaggca tccctgggct tgtccccagg agccgatcag
     3421 aggaggtgct gtggctgccg tggggcagca ggaacgggag cagcaggaga cagggcgggg
     3481 aactgtctgc cctccctgat ggtgggccca gctgaggtga ggctggccag tgcccctggt
     3541 gaggtggcag gaaggactct ggctgtcgag tctgctctta ggaagaggag ctgagctttg
     3601 gccctggagg ttactggggg gaaagtggcc agtacagccc aggccaggct ggctccgaga
     3661 aagagctaag gcgggggaca gcaggtggag gcaaagcaag gaatacaggg agggcctggg
     3721 ttgggggtta gcctggaact tggggtggga agatggggag cctggccctc agagctgagc
     3781 tgactcattt ttgggccagg ggtggggctt cagtccccca ccccctacat cgggagtagg
     3841 tgaaatggtc atcaggaagc tctgagaaga gggagggttg ggctcttgtc ccacaggagc
     3901 ctcttgaccc ctctgtgtgg ccagaaggtg ggttagggcc agcagtagaa gcgatacccc
     3961 tggtggagta tccagaggga tctgaagctc ttggcaggtt ccactcccca gtaacagatg
     4021 tggcaacaat ggccagagag gggctggccc tacagaccag tcacagcaag ggacagggcc
     4081 cagagcctgc acttcagttg ccctgagatt ccaggagcct ctgagggaga tgaggggggt
     4141 ctgcatgagg tgggaggtgg tgtgcgtggg ggtctgtata tagttctgaa ccggaaatgg
     4201 ctggcccttg ccagcctggt gtgtgatgtg atgagtttgg gaaggacagt ttccatgaga
     4261 agcagtggca gggatgggga tggatgcctt cgttgttcca ggcctgtcag ggggcccagg
     4321 tccctagcag tccctgccct ctgccctgga ctggaagctg actaggagag ctacgaatca
     4381 gaacaactgg ccattttcta gctggagatg ccagctccga tggcatggag ggccctgggg
     4441 ccaccccagg tgtctttacc tcatcctggt gtgtaataaa tcactgacca tggagccatc
     4501 atggctgaaa taa
//
