LOCUS       NM_001278720            1458 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens rhomboid like 1 (RHBDL1), transcript variant 1, mRNA.
ACCESSION   NM_001278720
VERSION     NM_001278720.2
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 1458)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1458)
  AUTHORS   Freeman,M.
  TITLE     The rhomboid-like superfamily: molecular mechanisms and biological
            roles
  JOURNAL   Annu Rev Cell Dev Biol 30, 235-254 (2014)
   PUBMED   25062361
  REMARK    Review article
REFERENCE   3  (bases 1 to 1458)
  AUTHORS   Bergbold,N. and Lemberg,M.K.
  TITLE     Emerging role of rhomboid family proteins in mammalian biology and
            disease
  JOURNAL   Biochim Biophys Acta 1828 (12), 2840-2848 (2013)
   PUBMED   23562403
  REMARK    Review article
REFERENCE   4  (bases 1 to 1458)
  AUTHORS   Lemberg,M.K.
  TITLE     Sampling the membrane: function of rhomboid-family proteins
  JOURNAL   Trends Cell Biol 23 (5), 210-217 (2013)
   PUBMED   23369641
  REMARK    Review article
REFERENCE   5  (bases 1 to 1458)
  AUTHORS   Etheridge,S.L., Brooke,M.A., Kelsell,D.P. and Blaydon,D.C.
  TITLE     Rhomboid proteins: a role in keratinocyte proliferation and cancer
  JOURNAL   Cell Tissue Res 351 (2), 301-307 (2013)
   PUBMED   23263464
  REMARK    Review article
REFERENCE   6  (bases 1 to 1458)
  AUTHORS   Urban,S. and Dickey,S.W.
  TITLE     The rhomboid protease family: a decade of progress on function and
            mechanism
  JOURNAL   Genome Biol 12 (10), 231 (2011)
   PUBMED   22035660
  REMARK    Review article
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1458)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
REFERENCE   8  (bases 1 to 1458)
  AUTHORS   Pascall,J.C. and Brown,K.D.
  TITLE     Characterization of a mammalian cDNA encoding a protein with high
            sequence similarity to the Drosophila regulatory protein Rhomboid
  JOURNAL   FEBS Lett 429 (3), 337-340 (1998)
   PUBMED   9662444
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI600093.1, Y17108.1 and
            BM674847.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001278720.1.
            
            Summary: This gene encodes a protein similar to Rhomboid in
            Drosophila which is involved in signalling in the Spitz/epidermal
            growth factor receptor/mitogen-activated protein kinase pathway.
            The Rhomboid family of proteins consists of intramembrane serine
            proteases containing several transmembrane domains. Alternative
            splicing results in multiple transcript variants encoding different
            isoforms. [provided by RefSeq, Jul 2013].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR3476690.594537.1,
                                           SRR3476690.1134087.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000352681.8/ ENSP00000344206.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-479               BI600093.1         14-492
            480-1457            Y17108.1           582-1559
            1458-1458           BM674847.1         18-18               c
FEATURES             Location/Qualifiers
     source          1..1458
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..1458
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /note="rhomboid like 1"
                     /db_xref="GeneID:9028"
                     /db_xref="HGNC:HGNC:10007"
                     /db_xref="MIM:603264"
     exon            1..159
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     CDS             121..1242
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /EC_number="3.4.21.105"
                     /note="isoform 1 is encoded by transcript variant 1;
                     rhomboid, drosophila, homolog of; rhomboid-related protein
                     1; rhomboid-like protein 1; rhomboid, veinlet-like 1"
                     /codon_start=1
                     /product="rhomboid-related protein 1 isoform 1"
                     /protein_id="NP_001265649.1"
                     /db_xref="CCDS:CCDS61779.1"
                     /db_xref="GeneID:9028"
                     /db_xref="HGNC:HGNC:10007"
                     /db_xref="MIM:603264"
                     /translation="MDRSSLLQLIQEQQLDPENTGFIGADTFTGLVHSHELPLDPAKL
                     DMLVALAQSNEQGQVCYQELVDLISSKRSSSFKRAIANGQRALPRDGPLDEPGLGVYK
                     RFVRYVAYEILPCEVDRRWYFYRHRSCPPPVFMASVTLAQIIVFLCYGARLNKWVLQT
                     YHPEYMKSPLVYHPGHRARAWRFLTYMFMHVGLEQLGFNALLQLMIGVPLEMVHGLLR
                     ISLLYLAGVLAGSLTVSITDMRAPVVGGSGGVYALCSAHLANVVMNWAGMRCPYKLLR
                     MVLALVCMSSEVGRAVWLRFSPPLPASGPQPSFMAHLAGAVVGVSMGLTILRSYEERL
                     RDQCGWWVVLLAYGTFLLFAVFWNVFAYDLLGAHIPPPP"
     exon            160..321
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     exon            322..546
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     exon            547..695
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     exon            696..808
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     exon            809..909
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     exon            910..970
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     exon            971..1458
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1439..1444
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /note="hexamer: AATAAA"
     polyA_site      1458
                     /gene="RHBDL1"
                     /gene_synonym="RHBDL; RRP"
                     /note="major polyA site"
ORIGIN      
        1 aagcgcggcg ccgagcggag cgggcggagc gggccggctg gggcggagcg gagtcgtccg
       61 cagagcagcc cctcccggcc gcggccgccg accccggacc ccggcccccg gccaggctct
      121 atggacagga gctcgctgct gcagctcatc caggagcagc agctggaccc cgagaacaca
      181 ggcttcatcg gtgcggacac cttcactggc ctggtgcaca gccatgagct gcccctggac
      241 ccggccaagc tggacatgct ggtggccctg gctcagagca acgagcaggg ccaggtctgc
      301 taccaggagc tggtggacct gatcagcagc aagcgctcca gcagtttcaa gcgggccatt
      361 gctaacggac agcgggcact gccccgggac gggccgctgg atgagccagg cctaggtgtc
      421 tacaagcggt ttgtgcgtta cgtggcctac gagatcctgc cttgtgaggt ggaccgccgc
      481 tggtacttct accgtcaccg cagctgccca ccccccgtgt tcatggcctc ggtcactctt
      541 gcccagatca tcgtgttcct gtgttacggg gcccgcctca acaagtgggt gctgcagacc
      601 taccaccccg agtacatgaa gagccccctt gtgtaccacc ccgggcaccg tgcccgcgcc
      661 tggcgcttcc tcacctacat gttcatgcac gttgggctgg agcagctggg gttcaacgcc
      721 ctcctgcagc tgatgatcgg ggtgcccctg gagatggtgc acggcctgct ccgcatcagc
      781 ctgctctacc tggcaggcgt gctggcaggc tccctaaccg tctccatcac cgacatgcgg
      841 gccccggtgg tgggaggctc cggcggggtc tacgccctgt gctcggcaca cctggccaac
      901 gttgtcatga actgggctgg gatgagatgt ccctacaagt tgctgaggat ggtgctggcc
      961 ttggtgtgca tgagctccga ggtgggccgg gccgtgtggc tgcgcttctc cccgccgctg
     1021 cccgcctcgg gcccacagcc cagcttcatg gcgcacctgg caggcgcggt ggtgggggtg
     1081 agcatgggcc tgaccatcct gcggagctac gaggagcgcc tgcgggacca gtgcggctgg
     1141 tgggtggtgc tgctggccta cggcaccttc ctgctcttcg ccgtcttctg gaacgtcttc
     1201 gcctacgacc tgctgggcgc ccacatcccc ccaccgccct gaccggctac ctgaggctgc
     1261 acaggccagg gctcgggcat gtggtggccg cccaccaggg gccttcacgt ctgccctttg
     1321 tgaacggacg tctcagggct gctgtgcccc ttgggtgtgg gtggcctcaa aggaggccct
     1381 gtcccagcca cccacccccc actcccagga cttgcggtct gagccttttt ggataattaa
     1441 taaatatttt acacagca
//
