LOCUS       NM_138328               5003 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens rhomboid like 3 (RHBDL3), transcript variant 1, mRNA.
ACCESSION   NM_138328
VERSION     NM_138328.3
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 5003)
  AUTHORS   Lastun,V.L., Levet,C. and Freeman,M.
  TITLE     The mammalian rhomboid protein RHBDL4 protects against endoplasmic
            reticulum stress by regulating the morphology and distribution of
            ER sheets
  JOURNAL   J Biol Chem 298 (6), 101935 (2022)
   PUBMED   35436469
  REMARK    GeneRIF: The mammalian rhomboid protein RHBDL4 protects against
            endoplasmic reticulum stress by regulating the morphology and
            distribution of ER sheets.
REFERENCE   2  (bases 1 to 5003)
  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 5003)
  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 5003)
  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 5003)
  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   6  (bases 1 to 5003)
  AUTHORS   Jaszai,J. and Brand,M.
  TITLE     Cloning and expression of Ventrhoid, a novel vertebrate homologue
            of the Drosophila EGF pathway gene rhomboid
  JOURNAL   Mech Dev 113 (1), 73-77 (2002)
   PUBMED   11900977
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC026620.18, AJ313480.1, AK127490.1, AK124570.1 and BC016953.1.
            
            On Nov 22, 2018 this sequence version replaced NM_138328.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803612.164805.1, AJ313480.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000269051.9/ ENSP00000269051.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-344               AC026620.18        101727-102070
            345-1763            AJ313480.1         1-1419
            1764-2307           AK127490.1         579-1122
            2308-2517           AK124570.1         1778-1987
            2518-4585           AK127490.1         1333-3400
            4586-5003           BC016953.1         2157-2574
FEATURES             Location/Qualifiers
     source          1..5003
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..5003
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /note="rhomboid like 3"
                     /db_xref="GeneID:162494"
                     /db_xref="HGNC:HGNC:16502"
                     /db_xref="MIM:619017"
     exon            1..469
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     CDS             359..1573
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /EC_number="3.4.21.105"
                     /note="isoform 1 is encoded by transcript variant 1;
                     ventrhoid transmembrane protein; rhomboid-related protein
                     3; rhomboid, veinlet-like 4; rhomboid, veinlet-like 3"
                     /codon_start=1
                     /product="rhomboid-related protein 3 isoform 1"
                     /protein_id="NP_612201.1"
                     /db_xref="CCDS:CCDS32613.1"
                     /db_xref="GeneID:162494"
                     /db_xref="HGNC:HGNC:16502"
                     /db_xref="MIM:619017"
                     /translation="MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFD
                     QFDPGNTGYISTGKFRSLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMSNK
                     RSNSFRQAILQGNRRLSSKALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCC
                     PPPWFMITVTLLEVAFFLYNGVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYI
                     FMHAGIEHLGLNVVLQLLVGVPLEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVG
                     SSGGVYALVSAHLANIVMNWSGMKCQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPP
                     CPHPSFVAHLGGVAVGITLGVVVLRNYEQRLQDQSLWWIFVAMYTVFVLFAVFWNIFA
                     YTLLDLKLPPPP"
     exon            470..493
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     exon            494..652
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     exon            653..877
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     exon            878..1026
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..1139
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1240
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     exon            1241..1301
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     exon            1302..5003
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1764
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /note="major polyA site"
     regulatory      4978..4983
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
                     /note="hexamer: ATTAAA"
     polyA_site      5003
                     /gene="RHBDL3"
                     /gene_synonym="RHBDL4; VRHO"
ORIGIN      
        1 gcagagcggg ggccgcgaga agcgggaagg gagcgcgggg agcggcgggg ccggggccgg
       61 cccaagggcg ccctcgcctc ggagccgggc gcgagggccg gggcggaggc ggaggccggc
      121 ggggcagcta gcgcagtgaa gtttggcggc ggaggggccg ggcgtcccgg ggtcgcgagg
      181 aggcggcggc ggcgcgggga ccggggccat gggggcgggc gcgggctgcg gagcgggcgc
      241 ggaggcggcg cggcgcgcac tgagcccctg gagcggcgcg gccgccgcgg cgcaaagtta
      301 gcccggcgcc ccgggacgag ccccgcagcc gccgccgccc ccggaccccg tctcggccat
      361 gggcgagcac cccagcccgg gccccgcggt ggccgcctgc gccgaggcgg agcgcatcga
      421 ggagctggaa cccgaggccg aggagcggct gcccgcggcg ccggaggacc actggaaagt
      481 cctgtttgat cagtttgacc ctgggaacac aggctacatt agcacaggca agttccggag
      541 tcttctggag agccacagct ccaagctgga cccgcacaaa agggaggtcc tcctggctct
      601 tgccgacagc cacgcggatg ggcagatcgg ctaccaggat tttgtcagcc taatgagcaa
      661 caagcgttcc aacagcttcc gccaagccat cctgcagggc aaccgcaggc taagcagcaa
      721 ggccctgctg gaggagaagg ggctgagcct ctcgcagcga cttatccgcc atgtggccta
      781 tgagaccctg ccccgggaaa ttgaccgcaa gtggtactat gacagctaca cctgctgccc
      841 cccaccctgg ttcatgatca cagtcacgct gctggaggtt gcctttttcc tctacaatgg
      901 ggtgtcacta ggtcaatttg tactgcaggt aactcatcca cgttacttga agaactccct
      961 ggtttaccac ccacagctgc gagcacaggt ttggcgctac ctgacataca tcttcatgca
     1021 tgcagggata gaacacctgg gactcaatgt ggtgctgcag ctgctggtgg gggtgcccct
     1081 ggagatggtg catggagcca cccgaattgg gcttgtctac gtggccggtg ttgtggcagg
     1141 gtccttggca gtgtctgtgg ctgacatgac cgctccagtc gtgggctctt ctggaggggt
     1201 gtatgctctc gtctctgccc atctggccaa cattgtcatg aactggtcag gcatgaagtg
     1261 ccagttcaag ctgctgcgga tggctgtggc ccttatctgt atgagcatgg agtttgggcg
     1321 ggccgtgtgg ctccgcttcc acccgtcggc ctatcccccg tgccctcacc caagctttgt
     1381 ggcgcacttg ggtggcgtgg ccgtgggcat caccctgggc gtggtggtcc tgaggaacta
     1441 cgagcagagg ctccaggacc agtcactgtg gtggattttt gtggccatgt acaccgtctt
     1501 cgtgctgttc gctgtcttct ggaacatctt tgcctacacc ctgctggact taaagctgcc
     1561 gcctcccccc tgagggctgg aggcccaagg tcggggaggg gagggaaaag cagcacccac
     1621 agggagcgcc tgcgaggttt cttctcatca ccagctcagc taggccgggc agacaaggac
     1681 agaagactct gggccactgt aatgtttgtg tttagatttg gacacacagt ggagaccctt
     1741 ttctgaaagg catctggcgg aggagttgat gtggctgctg tcgtttttct cggctgctct
     1801 gatgacatcg ggccagggtg aaggtctggg gtggggtgtg agagtggccc tccctcacct
     1861 gggctgggct tcttccatgg ggccaggggg tgccccctca ctgctgcgga ttgagcagca
     1921 gcttcttcct cctcctctac cctcagagac cctaagagac atgggaaggc tcgaaggttg
     1981 ttgcgtccag gcatggcccc tctctagctc agaaataatt gcaggccatg tggtgtctcc
     2041 ttgacacctg ctgtgtctgg ggctccagta agaagagggc ctactggaca tgtcagctgt
     2101 gacctggctg aaaccagggt gccctcctgg gctggttggt gtgcaccggg gcatgatctg
     2161 ttgtgcctgg gttgggcaga gcagggagcc tgtaggctct aggacccctc ttgtgctggg
     2221 ggtacccagt gagagggacc catgcagggg gaataaactt cattccaagt tccaccctgg
     2281 agaagacaga cccaggacca gcttcagact tctccctccc tttcttccag gatattggca
     2341 tctcacacgg gtgccccagc ctccatgccc agccttgttt tagggtcttt ttctttcctt
     2401 ttgctgccct gacactactt tgtgcctctc tttggttatg gagacagtgt tttgaaacat
     2461 tcatgcgtgt gtgtgtgtgt gtgcgtatat gtgtgtatgt gatgggaaag gtaactgagg
     2521 cacgacagcg cctgcagaga aggcatggag gatgcagggg gcccatgtgg gcatccgtga
     2581 gaggtggcag accgtggtgt gctgtggttg ctgaatgtcc ttgctttgac aaagcctgcc
     2641 cccttccttc ccatctcctg tcccttccac acctgcccct gagcatcact gaccggtggc
     2701 agaatggccc tgctggaggg agagctcaag ccctccaagg atccctggat gctgaggttt
     2761 gccaggttca gctcttgttt ccgtctgaga tggccttcat atccaaaaag gttccatcct
     2821 atctccctta ggagagaaag agctttgggg gcgcaagaga ggctggggta ggaatgttga
     2881 ggccatgtgt ccatttaagt tagggggaca ggaggctaca ggaagaggaa ttccagttta
     2941 gttggaaaac tttgcctcag gagaattgtt gggtgcatgg atgaacctca gagggagggc
     3001 agccagtagc ctcggaggct tggatgcggg agagaacatg gtggttatca aatccacccc
     3061 accccattac acaggtgaga aaacaagatg gagggaatga ccctcctaac aggagctggt
     3121 gcaggccccg aatggagggc atgaggatga cctttgacaa aagatgacac tccctttatc
     3181 gtgctcttgg aattctcaac cactgacagc ccagaagaac aaagaacgcc aggcctggga
     3241 ggaggcaggg gggctgggcg tgtccagaaa caggggcagg agtgtgggaa cggtcttcct
     3301 ccagcctggt gcccatcctg gcccttgagt gtagcagggt ccagggtcag tcaggccagg
     3361 catttggggt cttgggccac agtggcttcc catcctggtg actacatgta aatgggctca
     3421 ctcactcact ggcaggcgag gcccagccat accgcatctt ggcccactgc taaatagatt
     3481 gccctggcct catccacata tgtagttccc taggtcctgc tcccctgcac cagtgccatg
     3541 ctgagggccg cagcctgtgg cactgtgggc ccacgccttt ggcggtgttg cgtcagcctg
     3601 gggcgtcttg tgtgtgccct gcccaccgtt ctctgcccta gtgatagaaa gatgtagatg
     3661 gaagtcagtg cctcagagga ggaggctctg aggctgtgga gctgggctca gggaagacca
     3721 ggggaggatg cagaaggagt caggacattg ctgcctctgc ctgggctgca gccgcactaa
     3781 gctgagcgat gaggtccttt cctggaggga tggagaatcc cctccagatt cctgtcctgg
     3841 cccctgggga ttctgtggtg tgggtggaat gagcagagtg ccacctctgt ctggtatgac
     3901 ctggagaggg ggcttcctct cttaggggtg agaaagcatt gaactagaag attctagaaa
     3961 tccctcatag aagcactcag ctccctcggg gactcccagg gaagcttgtt actgagaagg
     4021 acagtggagg cggaatcgtg tctcccacca tgttaagtgt gtcctctgct gccaaggacc
     4081 ctcgtctaca ccttagacca ccagccccag ctgttctctg tcagcacacc cacctccatc
     4141 ccctctccca accatgactt ccaagcgggg ccacagggtg gggtcatagg gtcacttcac
     4201 ctgacccagg cctctcccca ggtcaggagg cagctgtctg gtcagagggg ttctctttgt
     4261 ggcatctggc tttctcctca gcaggtccca ccaccctctc agcagcactt ccccatggcc
     4321 aaggctggcc gtgtcctctg tgcctctttc cttgtctgag gtggctgcca gcccaggggg
     4381 tggtgtgtaa atcttcaggc tggtggaggt aggttggcct tttatccaca ggatacagaa
     4441 actgaaagct ggggaatccc caaacagcag ccatagactc actggctctc attaaacggg
     4501 agaggaatca cagaaactgg ggaagggaaa acaaaccttc aaaggagaaa tttcgcttta
     4561 atgacaccat tcatcattcg ttttttaatt aggaaaagct ccctaatgag gctcttttgc
     4621 cagctaatag gactctcgat ttccatgaga accattcttg cccagaggat taggggagct
     4681 gttgctcacc acaccaggat cttcccccag cgtccaattt aatttgcaaa tacgtaatgc
     4741 agattccctg ggtgccgtga aagcctttcc tggcatcatt catgttgctc cccgtgctgg
     4801 ctggaaagca cggttctcct ctgccttaaa aacagtgccc aacagtgaac tgcccctccg
     4861 aggacttgag taagtggaaa aaacaaaaca cagactgcaa tgtttgtttc taagtatttt
     4921 tgtattgtgt acattctgta tatttttgtt gtaacatatt atttgagcac agattccatt
     4981 aaatattttt tttctttttc caa
//
