LOCUS       NM_022450               2992 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens rhomboid 5 homolog 1 (RHBDF1), mRNA.
ACCESSION   NM_022450
VERSION     NM_022450.5
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 2992)
  AUTHORS   Wang,L., Song,Y.Y., Wang,Y., Liu,X.X., Yin,Y.L., Gao,S., Zhang,F.,
            Li,L.Y. and Zhang,Z.S.
  TITLE     RHBDF1 deficiency suppresses melanoma glycolysis and enhances
            efficacy of immunotherapy by facilitating glucose-6-phosphate
            isomerase degradation via TRIM32
  JOURNAL   Pharmacol Res 198, 106995 (2023)
   PUBMED   37979663
  REMARK    GeneRIF: RHBDF1 deficiency suppresses melanoma glycolysis and
            enhances efficacy of immunotherapy by facilitating
            glucose-6-phosphate isomerase degradation via TRIM32.
REFERENCE   2  (bases 1 to 2992)
  AUTHORS   Ji,R., Shi,Q., Cao,Y., Zhang,J., Zhao,C., Zhao,H., Sayyed,Y., Fu,L.
            and Li,L.Y.
  TITLE     Alternative splicing of the human rhomboid family-1 gene RHBDF1
            inhibits epidermal growth factor receptor activation
  JOURNAL   J Biol Chem 298 (6), 102033 (2022)
   PUBMED   35595096
  REMARK    GeneRIF: Alternative splicing of the human rhomboid family-1 gene
            RHBDF1 inhibits epidermal growth factor receptor activation.
REFERENCE   3  (bases 1 to 2992)
  AUTHORS   Louis,T.J., Qasem,A. and Naser,S.A.
  TITLE     Attenuation of Excess TNF-alpha Release in Crohn's Disease by
            Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking
  JOURNAL   Front Immunol 13, 887830 (2022)
   PUBMED   35585977
  REMARK    GeneRIF: Attenuation of Excess TNF-alpha Release in Crohn's Disease
            by Silencing of iRHOMs 1/2 and the Restoration of TGF-beta Mediated
            Immunosuppression Through Modulation of TACE Trafficking.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2992)
  AUTHORS   Gao,S., Zhang,L.S., Wang,L., Xiao,N.N., Long,H., Yin,Y.L.,
            Yang,Y.M., Xi,Z., Li,L.Y. and Zhang,Z.S.
  TITLE     RHBDF1 promotes AP-1-activated endothelial-mesenchymal transition
            in tumor fibrotic stroma formation
  JOURNAL   Signal Transduct Target Ther 6 (1), 273 (2021)
   PUBMED   34276048
  REMARK    GeneRIF: RHBDF1 promotes AP-1-activated endothelial-mesenchymal
            transition in tumor fibrotic stroma formation.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2992)
  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   6  (bases 1 to 2992)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   7  (bases 1 to 2992)
  AUTHORS   Nakagawa,T., Guichard,A., Castro,C.P., Xiao,Y., Rizen,M.,
            Zhang,H.Z., Hu,D., Bang,A., Helms,J., Bier,E. and Derynck,R.
  TITLE     Characterization of a human rhomboid homolog, p100hRho/RHBDF1,
            which interacts with TGF-alpha family ligands
  JOURNAL   Dev Dyn 233 (4), 1315-1331 (2005)
   PUBMED   15965977
  REMARK    GeneRIF: RHBDF1 is a seven-transmembrane protein with a long
            N-terminal cytoplasmic extension that comprises half of the
            polypeptide sequence, and is found in the endoplasmic reticulum and
            Golgi, but not on the cell surface
REFERENCE   8  (bases 1 to 2992)
  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   9  (bases 1 to 2992)
  AUTHORS   Flint,J., Thomas,K., Micklem,G., Raynham,H., Clark,K.,
            Doggett,N.A., King,A. and Higgs,D.R.
  TITLE     The relationship between chromosome structure and function at a
            human telomeric region
  JOURNAL   Nat Genet 15 (3), 252-257 (1997)
   PUBMED   9054936
REFERENCE   10 (bases 1 to 2992)
  AUTHORS   Kielman,M.F., Smits,R., Devi,T.S., Fodde,R. and Bernini,L.F.
  TITLE     Homology of a 130-kb region enclosing the alpha-globin gene
            cluster, the alpha-locus controlling region, and two non-globin
            genes in human and mouse
  JOURNAL   Mamm Genome 4 (6), 314-323 (1993)
   PUBMED   8318735
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z69720.1, Z69719.1, KF511226.1 and KF511222.1.
            
            On Aug 31, 2019 this sequence version replaced NM_022450.4.
            
            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 :: BC014425.1, AK291177.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000262316.10/ ENSP00000262316.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-119               Z69720.1           1552-1670           c
            120-260             Z69719.1           27591-27731         c
            261-391             Z69719.1           27391-27521         c
            392-605             Z69719.1           26279-26492         c
            606-815             Z69719.1           25665-25874         c
            816-938             Z69719.1           25467-25589         c
            939-1096            Z69719.1           25230-25387         c
            1097-1351           Z69719.1           24490-24744         c
            1352-1463           Z69719.1           24277-24388         c
            1464-1538           Z69719.1           24077-24151         c
            1539-1700           Z69719.1           23812-23973         c
            1701-1801           Z69719.1           23131-23231         c
            1802-1865           Z69719.1           22908-22971         c
            1866-1960           Z69719.1           22424-22518         c
            1961-2036           Z69719.1           22111-22186         c
            2037-2137           Z69719.1           21941-22041         c
            2138-2272           Z69719.1           21685-21819         c
            2273-2291           KF511226.1         371-389             c
            2292-2447           KF511226.1         1-156               c
            2448-2952           Z69719.1           20792-21296         c
            2953-2992           KF511222.1         1-40
FEATURES             Location/Qualifiers
     source          1..2992
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2992
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /note="rhomboid 5 homolog 1"
                     /db_xref="GeneID:64285"
                     /db_xref="HGNC:HGNC:20561"
                     /db_xref="MIM:614403"
     exon            1..119
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            120..260
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     CDS             144..2711
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /note="rhomboid family member 1; epidermal growth factor
                     receptor, related sequence; p100hRho; iRhom1; rhomboid
                     family 1; epidermal growth factor receptor-related
                     protein"
                     /codon_start=1
                     /product="inactive rhomboid protein 1"
                     /protein_id="NP_071895.3"
                     /db_xref="CCDS:CCDS32344.1"
                     /db_xref="GeneID:64285"
                     /db_xref="HGNC:HGNC:20561"
                     /db_xref="MIM:614403"
                     /translation="MSEARRDSTSSLQRKKPPWLKLDIPSAVPLTAEEPSFLQPLRRQ
                     AFLRSVSMPAETAHISSPHHELRRPVLQRQTSITQTIRRGTADWFGVSKDSDSTQKWQ
                     RKSIRHCSQRYGKLKPQVLRELDLPSQDNVSLTSTETPPPLYVGPCQLGMQKIIDPLA
                     RGRAFRVADDTAEGLSAPHTPVTPGAASLCSFSSSRSGFHRLPRRRKRESVAKMSFRA
                     AAALMKGRSVRDGTFRRAQRRSFTPASFLEEDTTDFPDELDTSFFAREGILHEELSTY
                     PDEVFESPSEAALKDWEKAPEQADLTGGALDRSELERSHLMLPLERGWRKQKEGAAAP
                     QPKVRLRQEVVSTAGPRRGQRIAVPVRKLFAREKRPYGLGMVGRLTNRTYRKRIDSFV
                     KRQIEDMDDHRPFFTYWLTFVHSLVTILAVCIYGIAPVGFSQHETVDSVLRNRGVYEN
                     VKYVQQENFWIGPSSEALIHLGAKFSPCMRQDPQVHSFIRSAREREKHSACCVRNDRS
                     GCVQTSEEECSSTLAVWVKWPIHPSAPELAGHKRQFGSVCHQDPRVCDEPSSEDPHEW
                     PEDITKWPICTKNSAGNHTNHPHMDCVITGRPCCIGTKGRCEITSREYCDFMRGYFHE
                     EATLCSQVHCMDDVCGLLPFLNPEVPDQFYRLWLSLFLHAGILHCLVSICFQMTVLRD
                     LEKLAGWHRIAIIYLLSGVTGNLASAIFLPYRAEVGPAGSQFGILACLFVELFQSWQI
                     LARPWRAFFKLLAVVLFLFTFGLLPWIDNFAHISGFISGLFLSFAFLPYISFGKFDLY
                     RKRCQIIIFQVVFLGLLAGLVVLFYVYPVRCEWCEFLTCIPFTDKFCEKYELDAQLH"
     exon            261..391
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            392..605
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            606..815
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            816..938
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            939..1096
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1097..1351
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1352..1463
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1464..1538
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1539..1700
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1701..1801
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1865
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1866..1960
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            1961..2036
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            2037..2137
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            2138..2291
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     exon            2292..2992
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2953..2958
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /note="hexamer: AATAAA"
     polyA_site      2992
                     /gene="RHBDF1"
                     /gene_synonym="C16orf8; Dist1; EGFR-RS; gene-89; gene-90;
                     hDist1"
                     /note="major polyA site"
ORIGIN      
        1 gcattcccgg gcgggccgga ccggcgggcg ggcggggact cggcgcgggc cctcccggcc
       61 agcggcggca gcctcctccc cggcgccctc aggacccccc agagcccccg gcggcggcag
      121 cctgccttgc tctgccagga accatgagtg aggcccgcag ggacagcacg agcagcctgc
      181 agcgcaagaa gccaccctgg ctaaagctgg acattccctc tgcggtgccc ctgacggcag
      241 aagagcccag cttcctgcag cccctgaggc gacaggcttt cctgaggagt gtgagtatgc
      301 cagccgagac agcccacatc tcttcacccc accatgagct ccggcggccg gtgctgcaac
      361 gccagacgtc catcacacag accatccgca gggggaccgc cgactggttt ggagtgagca
      421 aggacagtga cagcacccag aaatggcagc gcaagagcat ccgtcactgc agccagcgct
      481 acgggaagct gaagccccag gtcctccggg agctggacct gcccagccag gacaacgtgt
      541 cgctgaccag caccgagacg ccacccccac tctacgtggg gccatgccag ctgggcatgc
      601 agaagatcat agaccccctg gcccgtggcc gtgccttccg tgtggcagat gacactgcgg
      661 aaggcctgag tgccccacac actcccgtca cgccgggtgc tgcctccctc tgctccttct
      721 ccagctcccg ctcaggtttc caccggctcc cgcggcggcg caagcgagag tcggtggcca
      781 agatgagctt ccgggcggcc gcagcgctga tgaaaggccg ctccgttagg gatggcacct
      841 ttcgccgggc acagcgtcga agcttcactc cagctagctt tctggaggag gacacaactg
      901 atttccccga tgagctggac acatccttct ttgcccggga aggtatcctc catgaagagc
      961 tgtccacata cccggatgaa gttttcgagt ccccatcgga ggcagcgcta aaggactggg
     1021 agaaggcacc ggagcaggcg gacctcaccg gcggggccct ggaccgcagc gagcttgagc
     1081 gcagccacct gatgctgccc ttggagcgag gctggcggaa gcagaaggag ggcgccgcag
     1141 ccccgcagcc caaggtgcgg ctccgacagg aggtggtgag caccgcgggg ccgcgacggg
     1201 gccagcgtat cgcggtgccg gtgcgcaagc tcttcgcccg ggagaagcgg ccgtatgggc
     1261 tgggcatggt gggacggctc accaaccgca cctaccgcaa gcgcatcgac agcttcgtca
     1321 agcgccagat cgaggacatg gacgaccaca ggcccttctt cacctactgg cttaccttcg
     1381 tgcactcgct cgtcaccatc ctagccgtgt gcatctatgg catcgcgccc gtgggcttct
     1441 cgcagcatga gacggtggac tcggtgctgc ggaaccgcgg ggtctacgag aacgtcaagt
     1501 acgtgcagca ggagaacttc tggatcgggc ccagctcgga ggccctcatc cacctgggcg
     1561 ccaagttttc gccctgcatg cgccaggacc cgcaggtgca cagcttcatt cgctcggcgc
     1621 gcgagcgcga gaagcactcc gcctgctgcg tgcgcaacga caggtcgggc tgcgtgcaga
     1681 cctcggagga ggagtgctcg tccacgctgg cagtgtgggt gaagtggccc atccatccca
     1741 gcgccccaga gcttgcgggc cacaagagac agtttggctc tgtctgccac caggatccca
     1801 gggtgtgtga tgagccctcc tccgaagacc ctcatgagtg gccagaagac atcaccaagt
     1861 ggccgatctg caccaaaaac agcgctggga accacaccaa ccatccccac atggactgtg
     1921 tcatcacagg acggccctgc tgcattggca ccaagggcag gtgtgagatc acctcccggg
     1981 agtactgtga cttcatgagg ggctacttcc atgaggaggc cacgctctgc tctcaggtgc
     2041 actgcatgga tgatgtgtgt gggctcctgc cttttctcaa ccccgaggtg cctgaccagt
     2101 tctaccgcct gtggctatcc ctcttcctgc acgccgggat cttgcactgc ctggtgtcca
     2161 tctgcttcca gatgactgtc ctgcgggacc tggagaagct ggcaggctgg caccgcatag
     2221 ccatcatcta cctgctgagt ggtgtcaccg gcaacctggc cagtgccatc ttcctgccat
     2281 accgagcaga ggtgggtcct gctggctccc agttcggcat cctggcctgc ctcttcgtgg
     2341 agctcttcca gagctggcag atcctggcgc ggccctggcg tgccttcttc aagctgctgg
     2401 ctgtggtgct cttcctcttc acctttgggc tgctgccgtg gattgacaac tttgcccaca
     2461 tctcagggtt catcagtggc ctcttcctct ccttcgcctt cttgccctac atcagctttg
     2521 gcaagttcga cctgtaccgg aaacgctgcc agatcatcat ctttcaggtg gtcttcctgg
     2581 gcctcctggc tggcctggtg gtcctcttct acgtctatcc tgtccgctgt gagtggtgtg
     2641 agttcctcac ctgcatcccc ttcactgaca agttctgtga gaagtacgaa ctggacgctc
     2701 agctccactg agctggctgc gggctccagc ggccgtgtgc tccagcaggc cagagccaga
     2761 cacgacctcc ctgagcctca caggcttaca ggagtcacct gctccatgtg gggactggcc
     2821 tgtttcctga acacagacct ctttcttgtg ccttgttcac ttctgttgaa cccctcgtac
     2881 tgccgggcat ttattatact acttcctgtc ataaccttct aacttgtttc ttgacgacca
     2941 cctcatgtgg ccaataaatg gactgggagc gttttagctg ccattaactt ga
//
