LOCUS       NM_017821               1883 bp    mRNA    linear   PRI 17-NOV-2024
DEFINITION  Homo sapiens rhomboid like 2 (RHBDL2), transcript variant 2, mRNA.
ACCESSION   NM_017821
VERSION     NM_017821.5
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 1883)
  AUTHORS   Che,Z., Jin,W., Wu,Y., Li,H. and Liang,P.
  TITLE     Rhomboid-like 2 correlated with TME infiltration inhibits
            cuproptosis-related genes and drives malignant phenotype in clear
            cell renal cell carcinoma
  JOURNAL   Sci Rep 14 (1), 27053 (2024)
   PUBMED   39511359
  REMARK    GeneRIF: Rhomboid-like 2 correlated with TME infiltration inhibits
            cuproptosis-related genes and drives malignant phenotype in clear
            cell renal cell carcinoma.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1883)
  AUTHORS   Koch,L., Kespohl,B., Agthe,M., Schumertl,T., Dusterhoft,S.,
            Lemberg,M.K., Lokau,J. and Garbers,C.
  TITLE     Interleukin-11 (IL-11) receptor cleavage by the rhomboid protease
            RHBDL2 induces IL-11 trans-signaling
  JOURNAL   FASEB J 35 (3), e21380 (2021)
   PUBMED   33566379
  REMARK    GeneRIF: Interleukin-11 (IL-11) receptor cleavage by the rhomboid
            protease RHBDL2 induces IL-11 trans-signaling.
REFERENCE   3  (bases 1 to 1883)
  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   4  (bases 1 to 1883)
  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   5  (bases 1 to 1883)
  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   6  (bases 1 to 1883)
  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   7  (bases 1 to 1883)
  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   8  (bases 1 to 1883)
  AUTHORS   Pascall,J.C. and Brown,K.D.
  TITLE     Intramembrane cleavage of ephrinB3 by the human rhomboid family
            protease, RHBDL2
  JOURNAL   Biochem Biophys Res Commun 317 (1), 244-252 (2004)
   PUBMED   15047175
  REMARK    GeneRIF: The encoded protein is thought to release soluble growth
            factors by proteolytic cleavage of certain membrane-bound
            substrates, including ephrin B2 and ephrin B3.
REFERENCE   9  (bases 1 to 1883)
  AUTHORS   Urban,S. and Freeman,M.
  TITLE     Substrate specificity of rhomboid intramembrane proteases is
            governed by helix-breaking residues in the substrate transmembrane
            domain
  JOURNAL   Mol Cell 11 (6), 1425-1434 (2003)
   PUBMED   12820957
  REMARK    GeneRIF: Substrate specificity of RHBDL2 intramembrane protease is
            governed by helix-breaking residues in the transmembrane domain.
REFERENCE   10 (bases 1 to 1883)
  AUTHORS   Urban,S., Lee,J.R. and Freeman,M.
  TITLE     Drosophila rhomboid-1 defines a family of putative intramembrane
            serine proteases
  JOURNAL   Cell 107 (2), 173-182 (2001)
   PUBMED   11672525
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB036310.1, AK294115.1 and
            AL139260.19.
            
            On Nov 23, 2018 this sequence version replaced NM_017821.4.
            
            Summary: The protein encoded by this gene is a member of the
            rhomboid family of integral membrane proteins. This family contains
            proteins that are related to Drosophila rhomboid protein. Members
            of this family are found in both prokaryotes and eukaryotes and are
            thought to function as intramembrane serine proteases. The encoded
            protein is thought to release soluble growth factors by proteolytic
            cleavage of certain membrane-bound substrates, including ephrin B2
            and ephrin B3. Two transcript variants encoding different isoforms
            have been found for this gene. [provided by RefSeq, Feb 2015].
            
            Transcript Variant: This variant (2) uses an alternate first exon
            in place of that of variant 1, which results in variant 2 using a
            downstream translation start site compared to variant 1. The
            resulting isoform (2) is shorter at the N-terminus compared to
            isoform 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.
            
            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 :: SRR1803611.212005.1,
                                           SRR1660803.137482.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142348 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372990.6/ ENSP00000362081.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-555               DB036310.1         1-555
            556-1316            AK294115.1         526-1286
            1317-1883           AL139260.19        101908-102474       c
FEATURES             Location/Qualifiers
     source          1..1883
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..1883
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /note="rhomboid like 2"
                     /db_xref="GeneID:54933"
                     /db_xref="HGNC:HGNC:16083"
                     /db_xref="MIM:608962"
     exon            1..149
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            150..520
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             275..1186
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /EC_number="3.4.21.105"
                     /note="isoform 2 is encoded by transcript variant 2;
                     rhomboid (veinlet, Drosophila)-like 2; rhomboid protease
                     2; rhomboid-related protein 2; rhomboid-like protein 2;
                     rhomboid, veinlet-like 2"
                     /codon_start=1
                     /product="rhomboid-related protein 2 isoform 2"
                     /protein_id="NP_060291.2"
                     /db_xref="CCDS:CCDS30680.1"
                     /db_xref="GeneID:54933"
                     /db_xref="HGNC:HGNC:16083"
                     /db_xref="MIM:608962"
                     /translation="MAAVHDLEMESMNLNMGREMKEELEEEEKMREDGGGKDRAKSKK
                     VHRIVSKWMLPEKSRGTYLERANCFPPPVFIISISLAELAVFIYYAVWKPQKQWITLD
                     TGILESPFIYSPEKREEAWRFISYMLVHAGVQHILGNLCMQLVLGIPLEMVHKGLRVG
                     LVYLAGVIAGSLASSIFDPLRYLVGASGGVYALMGGYFMNVLVNFQEMIPAFGIFRLL
                     IIILIIVLDMGFALYRRFFVPEDGSPVSFAAHIAGGFAGMSIGYTVFSCFDKALLKDP
                     RFWIAIAAYLACVLFAVFFNIFLSPAN"
     exon            521..669
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            670..782
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            783..883
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            884..944
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            945..1006
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1883
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1863..1868
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /note="hexamer: AATAAA"
     polyA_site      1883
                     /gene="RHBDL2"
                     /gene_synonym="RRP2"
                     /note="major polyA site"
ORIGIN      
        1 ctgtctggag gatttttgtt tggggaggga cggaggagcg cctggcagag cgggatcttc
       61 agggcagcgg gcaacccctt ggcccaggaa gcctggaacg caaggaccgg agggcgtggg
      121 ctgggacgcc cctaccttgg tctttcaggg aaaggccttg gaaagcagtc gttgcgccag
      181 acagcccagg gaagagcggc agcctgagga cctagggcca cctgctgttc cctgggattc
      241 atgtccttct ggggaggagg gaggacccag gacaatggct gctgttcatg atctggagat
      301 ggagagcatg aatctgaata tggggagaga gatgaaagaa gagctggagg aagaggagaa
      361 aatgagagag gatgggggag gtaaagatcg ggccaagagt aaaaaggtcc acaggattgt
      421 ctcaaaatgg atgctgcccg aaaagtcccg aggaacatac ttggagagag ctaactgctt
      481 cccgcctccc gtgttcatca tctccatcag cctggccgag ctggcagtgt ttatttacta
      541 tgctgtgtgg aagcctcaga aacagtggat cacgttggac acaggcatct tggagagtcc
      601 ctttatctac agtcctgaga agagggagga agcctggagg tttatctcat acatgctggt
      661 acatgctgga gttcagcaca tcttggggaa tctttgtatg cagcttgttt tgggtattcc
      721 cttggaaatg gtccacaaag gcctccgtgt ggggctggtg tacctggcag gagtgattgc
      781 agggtccctt gccagctcca tctttgaccc actcagatat cttgtgggag cttcaggagg
      841 agtctatgct ctgatgggag gctattttat gaatgttctg gtgaattttc aagaaatgat
      901 tcctgccttt ggaattttca gactgctgat catcatcctg ataattgtgt tggacatggg
      961 atttgctctc tatagaaggt tctttgttcc tgaagatggg tctccggtgt cttttgcagc
     1021 tcacattgca ggtggatttg ctggaatgtc cattggctac acggtgttta gctgctttga
     1081 taaagcactg ctgaaagatc caaggttttg gatagcaatt gctgcatatt tagcttgtgt
     1141 cttatttgct gtgtttttca acattttcct atctccagca aactgacctg cccctattgt
     1201 aagtcaatta ataaaaagag ccatctggag gaaataaaaa aaaaaggaag actctatgaa
     1261 gaaacagaga agtctcagaa aaggctaaca attttatata gaggacaaaa cagcattaaa
     1321 ctcatcagtt gcaaagattg cctataaaag gaccttagga tttaaggaag gggcttctta
     1381 atgtagaaag ggaagaagaa gagagaaaag aagggtagta aaaactagag attggggcca
     1441 ggcgcagtgg ctcacgcctg taatcccagc actttgggag gctgaggcgg gtgaaatcac
     1501 ctgaggtcat gagttcaaga ccagcctgac caatatggtg aaaccctgtc tctactaaag
     1561 aaaatacaaa aattagccgg gcgtggtggc gtgtgcctgt agtcccagct acttgcgagg
     1621 ctgaggcagg agaattgctt gaacctggga ggcgaaggtt gcagtgagcc gagattgcgc
     1681 cactgcactc cagcctgggt gacagagcga cactcggtct caaaaaacaa aacaaaacaa
     1741 aacaaaatta gagattgggt ctttcccagg catatggtat tctataaaac agacttactc
     1801 tccttggagg atatattttg gagaatgctt cataaaatct atgaatactg tacaatgctg
     1861 ataataaaaa ctttttatac ctg
//
