LOCUS       NM_001167608            5061 bp    mRNA    linear   PRI 29-OCT-2024
DEFINITION  Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript
            variant 2, mRNA.
ACCESSION   NM_001167608
VERSION     NM_001167608.3
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 5061)
  AUTHORS   Penalva,Y.C.M., Paschkowsky,S., Recinto,S.J., Duchesne,A.,
            Hammond,T., Spiegler,P., Jansen,G., Levet,C., Charron,F.,
            Freeman,M., McKinney,R.A., Trempe,J.F. and Munter,L.M.
  TITLE     Eta-secretase-like processing of the amyloid precursor protein
            (APP) by the rhomboid protease RHBDL4
  JOURNAL   J Biol Chem 300 (8), 107541 (2024)
   PUBMED   38992438
  REMARK    GeneRIF: Eta-secretase-like processing of the amyloid precursor
            protein (APP) by the rhomboid protease RHBDL4.
REFERENCE   2  (bases 1 to 5061)
  AUTHORS   Li,Y., Wang,Z., Gao,P., Cao,D., Dong,R., Zhu,M., Fei,Y., Zuo,X. and
            Cai,J.
  TITLE     CircRHBDD1 promotes immune escape via IGF2BP2/PD-L1 signaling and
            acts as a nanotherapeutic target in gastric cancer
  JOURNAL   J Transl Med 22 (1), 704 (2024)
   PUBMED   39080693
  REMARK    GeneRIF: CircRHBDD1 promotes immune escape via IGF2BP2/PD-L1
            signaling and acts as a nanotherapeutic target in gastric cancer.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 5061)
  AUTHORS   Knopf,J.D., Steigleder,S.S., Korn,F., Kuhnle,N., Badenes,M.,
            Tauber,M., Theobald,S.J., Rybniker,J., Adrain,C. and Lemberg,M.K.
  TITLE     RHBDL4-triggered downregulation of COPII adaptor protein TMED7
            suppresses TLR4-mediated inflammatory signaling
  JOURNAL   Nat Commun 15 (1), 1528 (2024)
   PUBMED   38453906
  REMARK    GeneRIF: RHBDL4-triggered downregulation of COPII adaptor protein
            TMED7 suppresses TLR4-mediated inflammatory signaling.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 5061)
  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 5061)
  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 5061)
  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 5061)
  AUTHORS   Fleig,L., Bergbold,N., Sahasrabudhe,P., Geiger,B., Kaltak,L. and
            Lemberg,M.K.
  TITLE     Ubiquitin-dependent intramembrane rhomboid protease promotes ERAD
            of membrane proteins
  JOURNAL   Mol Cell 47 (4), 558-569 (2012)
   PUBMED   22795130
REFERENCE   8  (bases 1 to 5061)
  AUTHORS   Wan,C., Fu,J., Wang,Y., Miao,S., Song,W. and Wang,L.
  TITLE     Exosome-related multi-pass transmembrane protein TSAP6 is a target
            of rhomboid protease RHBDD1-induced proteolysis
  JOURNAL   PLoS One 7 (5), e37452 (2012)
   PUBMED   22624035
  REMARK    GeneRIF: RHBDD1 is involved in the regulation of a nonclassical
            exosomal secretion pathway through the restriction of TSAP6.
REFERENCE   9  (bases 1 to 5061)
  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   10 (bases 1 to 5061)
  AUTHORS   Wang,Y., Guan,X., Fok,K.L., Li,S., Zhang,X., Miao,S., Zong,S.,
            Koide,S.S., Chan,H.C. and Wang,L.
  TITLE     A novel member of the Rhomboid family, RHBDD1, regulates
            BIK-mediated apoptosis
  JOURNAL   Cell Mol Life Sci 65 (23), 3822-3829 (2008)
   PUBMED   18953687
  REMARK    GeneRIF: RHBDD1, a serine protease, modulates BIK-mediated
            apoptotic activity.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC010735.11, DB024396.1, AC073149.5 and CA434330.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001167608.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1-5 encode the same protein.
            
            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 :: SRR1660803.63754.1,
                                           SRR1803614.264417.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000392062.7/ ENSP00000375914.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-34                AC010735.11        115635-115668
            35-335              DB024396.1         34-334
            336-858             AC010735.11        144185-144707
            859-991             AC010735.11        146767-146899
            992-1080            AC010735.11        186374-186462
            1081-1137           AC010735.11        188403-188459
            1138-1281           AC010735.11        193789-193932
            1282-4456           AC073149.5         65032-68206
            4457-5061           CA434330.1         10-614              c
FEATURES             Location/Qualifiers
     source          1..5061
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q36.3"
     gene            1..5061
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /note="rhomboid domain containing 1"
                     /db_xref="GeneID:84236"
                     /db_xref="HGNC:HGNC:23081"
                     /db_xref="MIM:617515"
     exon            1..34
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     exon            35..116
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     exon            117..335
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     exon            336..858
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             426..1373
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /EC_number="3.4.21.105"
                     /note="rhomboid domain-containing protein 1; rhomboid-like
                     protein 4; rhomboid like 4"
                     /codon_start=1
                     /product="rhomboid-related protein 4"
                     /protein_id="NP_001161080.1"
                     /db_xref="CCDS:CCDS2464.1"
                     /db_xref="GeneID:84236"
                     /db_xref="HGNC:HGNC:23081"
                     /db_xref="MIM:617515"
                     /translation="MQRRSRGINTGLILLLSQIFHVGINNIPPVTLATLALNIWFFLN
                     PQKPLYSSCLSVEKCYQQKDWQRLLLSPLHHADDWHLYFNMASMLWKGINLERRLGSR
                     WFAYVITAFSVLTGVVYLLLQFAVAEFMDEPDFKRSCAVGFSGVLFALKVLNNHYCPG
                     GFVNILGFPVPNRFACWVELVAIHLFSPGTSFAGHLAGILVGLMYTQGPLKKIMEACA
                     GGFSSSVGYPGRQYYFNSSGSSGYQDYYPHGRPDHYEEAPRNYDTYTAGLSEEEQLER
                     ALQASLWDRGNTRNSPPPYGFHLSPEEMRRQRLHRFDSQ"
     exon            859..991
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1080
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1081..1137
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1138..1281
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1282..5061
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3672..3677
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /note="hexamer: AATAAA"
     polyA_site      3693
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
     regulatory      5034..5039
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /note="hexamer: AATAAA"
     polyA_site      5061
                     /gene="RHBDD1"
                     /gene_synonym="RHBDL4; RRP4"
                     /note="major polyA site"
ORIGIN      
        1 gaagacgtgg ggacgcaggc gggtcgtaga gagcgggtcc attgtagggg gagaaagaaa
       61 tattcaggat ttaaagcagc tgctctaaag gctacattca ctgcaatgtt gagaagggag
      121 cctcttaaac agaatcttac ctgtaaaact caggagccga gaagctttaa gaacagtgag
      181 gttgaagggc acaggctctt ggtccttggc agcgatatta ggaggcgtgc ctagggaacc
      241 tcggattccg gggagctgga cgtgaaactc tgtggtggaa tagaaatcct cagggcatga
      301 gctataccta aaacgtaatg gtattaagaa ttctggttca gccgtctgta tatctcccca
      361 gatacctgaa actgaccacc tgagtacgtt ttcccattgc tgagctgttt ccctgatatc
      421 tggccatgca acggagatca agagggataa atactggact tattctactc ctttctcaaa
      481 tcttccatgt tgggatcaac aatattccac ctgtcaccct agcaactttg gccctcaaca
      541 tctggttctt cttgaaccct cagaagccac tgtatagctc ctgccttagt gtggagaagt
      601 gttaccagca aaaagactgg cagcgtttac tgctctctcc ccttcaccat gctgatgatt
      661 ggcatttgta tttcaatatg gcatccatgc tctggaaagg aataaatcta gaaagaagac
      721 tgggaagtag atggtttgcc tatgttatca ccgcattttc tgtacttact ggagtggtat
      781 acctgctctt gcaatttgct gttgccgaat ttatggatga acctgacttc aaaaggagct
      841 gtgctgtagg tttctcagga gttttgtttg ctttgaaagt tcttaacaac cattattgcc
      901 ctggaggctt tgtcaacatt ttgggctttc ctgtaccgaa cagatttgct tgttgggtcg
      961 aacttgtggc tattcattta ttctcaccag ggacttcctt cgctgggcat ctggctggga
     1021 ttcttgttgg actaatgtac actcaagggc ctctgaagaa aatcatggaa gcatgtgcag
     1081 gcggtttttc ctccagtgtt ggttacccag gacggcaata ctactttaat agttcaggca
     1141 gctctggata tcaggattat tatccgcatg gcaggccaga tcactatgaa gaagcaccca
     1201 ggaactatga cacgtacaca gcaggactga gtgaagaaga acagctcgag agagcattac
     1261 aagccagcct ctgggaccga ggaaatacca gaaatagccc accaccctac gggtttcatc
     1321 tctcaccaga agaaatgagg agacagcggc ttcacagatt cgatagccag tgaggtggca
     1381 tcttgggaag acatggccta ttcgtgtaat tattgcccat ttggctcatt ccccaagccc
     1441 ctaattcatt ttaattcatt ttaaacaaaa gcagagtaca ccggtattgc tccagatcgc
     1501 tcacatcacc tgggacagtc ccatggcccc tatgagtcaa ctcacagctt gcggggagtg
     1561 ggccttctcc tggccttgtt cttgctcata aacaggtcac ttcctccatg aagagaccag
     1621 tttccacgct cccatctctc actgctgact cagcgatgcc tctgcctcgg tctgcttttg
     1681 aagactgtga ccttcaccag gaggttttac ttacaccagt cgggaagatt agtccctcat
     1741 tctgcctgga gtgccccgtg tttgacttgg cagcgggtgt ggagccatcc ccgcgtcctc
     1801 ctggcgcatt gccactgtgg ctgtccagga acaggatgtg gctgccttgg ccgaatgttg
     1861 tcctactctc cccaaccccg gcgcctcagc tcctcagctc ctcgggcccc tgcgtctggc
     1921 tggtgtttgc agggctttcg ctctgctctg gtattgctct gcctttatag aaagtcttat
     1981 tgaagaagtg taagaaagac ctaaggtggg gaagactcct acacacacca ttagtatcag
     2041 tgacaccagc aatgtaggtt cccagcccct tcccagtggc agcttgtgtg tccaggagat
     2101 aggacatcat ttaacgcatc agcaaagtag cagcagatgc cacatacaga gtagagcgaa
     2161 ggcatttggt ggatcggtca ctagagatct atcttgcaga aagtatgttt ttcctcataa
     2221 aagtgcctct taattggcca ttgtaccagc cacttgtcct agccaaatgt ccaaaacacg
     2281 cccttgggcc ccgccacgtt acaatccaca gattgtctgt ctgagtcgtt taaggcattt
     2341 cctggtgctt gtgttccatg aataaaagga caaagtcaga agatcactga tgtcttactg
     2401 tcaacagaga tattttaaaa gagagaagca ggaaaagatc ttcctttttt gatctacaac
     2461 ttatatagtt ttctgattat gcacataata gatatgcctt ccagatgcat aaggcaaaca
     2521 tctggaaaga aatataccca aatcttagca ggggttatct ttgggagtgg agtacatggg
     2581 attttgcttt cttcattttt ataattttat attactgtct tggaagatgt gtttatgtgt
     2641 gtgtgttact tttacaatca ggaaaacata tttaataaca tatagtcaag aaaacagact
     2701 taaaaataaa tactatgtgt ccattgagaa aattcacaat ataaacagaa atacaaataa
     2761 atacatacac aattttaaag tcacctgtag ccctaccctt agaggtaccc agggttaaca
     2821 ttttggtggt attgtcttat caatttttcc gttgatacat tcagcaaatt tggagcacat
     2881 tgaccatgga gttttgtgtc caaatccaat ctgaatttac ctggaagagg ccttgacacc
     2941 tgcatggaaa tgagctaaga aaaccactgg agccttggga gctctttggc ctcctggctg
     3001 gcccagtaat atctgagctc ctttggttaa tttataactg atataaaact acatcttctt
     3061 tataatataa attgtacctg tgagtctaga agctttaaat gtgtttaaat taaaatattc
     3121 aagctaaatg ttactgctct ctcccaaatt ctgtaagttt gactcccgtt accccaatta
     3181 gaagtaactt ctttgtttca tgccactttt atagcatttg gtaattctgc tataacacat
     3241 cttgccccta ttattaactg tgcacagcta cacaaaggtg tgccttctac gtgggaacat
     3301 ggattgtgaa tgactctgta atgaggcctg agtcttagtt atctttccac tcactccccg
     3361 tctccccttt ccaaccccaa aggctcacga taggggctca ctaaatgtca gtgtttcacc
     3421 aaagtatttt ttccattgta ttaagagtcc agtcactgta tatggaagta ttttattttt
     3481 tattttttta tatcacttga gtccactagt agtacttcct tgctctgttt gacttgtcag
     3541 atacaaagac acgggattag attttgggtg gtaaaattgt gatacgcatg gctgttgatg
     3601 gagtggaaca tcttagtgat gtgagaaagg tcattttagt tataaatgta aaccaattac
     3661 tttagcacaa caataaagat gttctggaaa ttattataat tattttagtt aatggacttg
     3721 cctgtaacaa gtgcttatgt ttggaatgtc cattttattt tattttcctc tacaataagg
     3781 aatccctaaa gttatgccaa caaactggaa ttggattgag aaagacaaaa gcaagtgagc
     3841 aagtgtatta gactaattat ctctagtagg gaataagcac ttagagctaa ttttttaatt
     3901 tggtttattt attagtagct ccctgattgt ctgttaagcc cctggttccc acagtttggt
     3961 gtggtcagtc aacttaagcg accttttaat gcagaatctt tacttggttc tgaagaggag
     4021 gcagtagtta aaattgcttc ctcttaatga ctctgaatgt attgcctgtg attccaaagt
     4081 tgtacataat tgttcagacc tcctccatcc ttttaaattg cctgctgcag taaataacta
     4141 gtttgagtag aactagatcc tgtctatcta tttggcacat gttctgctgc ctggggagta
     4201 agcaagctaa agggatgaga aagaccacct ccccctaccc tggaaattgc actgcaaggc
     4261 agggcgagaa tggggtagct ggcagacctg gcctccttgt tcccagtctt agtttttctt
     4321 gagagattca gtattcagta aagaatagca ttcaattagt caaaaaatat atatataact
     4381 tcttcctttc ccttcccatg aatcattgca gtcattccct aagtttcttc tctttttttt
     4441 tcatggctgc tagtatttta ttttagaatc acagactctc agcttagaga gtcacagtat
     4501 ctcaattatt tgctctgttc aatacttaac aatacctcct cactcaattc tacataactc
     4561 cagcttagtc ttccaaaatt cactttcatg atgccactca gcatctcaaa tacctttcat
     4621 tggctctctg ctgccaaagg ataaaggtca aagtcattag cctcaacagt gggcttcaac
     4681 cagcctttgg acctcagccc catttatcca tcacagaggc tggtaactag tctcactgct
     4741 caggctgtga gtgttcctga tcttgtgaca ttctgtgctg tgcttttaca tggaacagct
     4801 ctttcctctc tcttggccca ttcagatcct cctcatccag cccccatctg aatcctgtaa
     4861 cagacacaac cacatctaca cagtttccac ataccacttg gaattgctgg ttatgctgca
     4921 atgagagaat gtctttgtct ttaaattgta agcttcatga gggcagggac catctgtttc
     4981 tctgtctctc ctcacagtgc cttgagcagt acgttgtctg gaatgtcaga accaataaat
     5041 acttgtggat tgaaacaaaa a
//
