LOCUS       NM_138393               1360 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens receptor accessory protein 6 (REEP6), transcript
            variant 2, mRNA.
ACCESSION   NM_138393
VERSION     NM_138393.4
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 1360)
  AUTHORS   Zhou,Y., Liu,Y., Gupta,S., Paramo,M.I., Hou,Y., Mao,C., Luo,Y.,
            Judd,J., Wierbowski,S., Bertolotti,M., Nerkar,M., Jehi,L.,
            Drayman,N., Nicolaescu,V., Gula,H., Tay,S., Randall,G., Wang,P.,
            Lis,J.T., Feschotte,C., Erzurum,S.C., Cheng,F. and Yu,H.
  TITLE     A comprehensive SARS-CoV-2-human protein-protein interactome
            reveals COVID-19 pathobiology and potential host therapeutic
            targets
  JOURNAL   Nat Biotechnol 41 (1), 128-139 (2023)
   PUBMED   36217030
REFERENCE   2  (bases 1 to 1360)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   3  (bases 1 to 1360)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 1360)
  AUTHORS   Zhang,L., Li,Y., Qin,L., Wu,Y. and Lei,B.
  TITLE     Autosomal Recessive Retinitis Pigmentosa Associated with Three
            Novel REEP6 Variants in Chinese Population
  JOURNAL   Genes (Basel) 12 (4), 537 (2021)
   PUBMED   33917198
  REMARK    GeneRIF: Autosomal Recessive Retinitis Pigmentosa Associated with
            Three Novel REEP6 Variants in Chinese Population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1360)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   6  (bases 1 to 1360)
  AUTHORS   Zhong,Q., Pevzner,S.J., Hao,T., Wang,Y., Mosca,R., Menche,J.,
            Taipale,M., Tasan,M., Fan,C., Yang,X., Haley,P., Murray,R.R.,
            Mer,F., Gebreab,F., Tam,S., MacWilliams,A., Dricot,A., Reichert,P.,
            Santhanam,B., Ghamsari,L., Calderwood,M.A., Rolland,T.,
            Charloteaux,B., Lindquist,S., Barabasi,A.L., Hill,D.E., Aloy,P.,
            Cusick,M.E., Xia,Y., Roth,F.P. and Vidal,M.
  TITLE     An inter-species protein-protein interaction network across vast
            evolutionary distance
  JOURNAL   Mol Syst Biol 12 (4), 865 (2016)
   PUBMED   27107014
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 1360)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   8  (bases 1 to 1360)
  AUTHORS   Wellmann,A., Fogt,F., Hollerbach,S., Hahne,J., Koenig-Hoffmann,K.,
            Smeets,D. and Brinkmann,U.
  TITLE     Polymorphisms of the apoptosis-associated gene DP1L1 (deleted in
            polyposis 1-like 1) in colon cancer and inflammatory bowel disease
  JOURNAL   J Cancer Res Clin Oncol 136 (6), 795-802 (2010)
   PUBMED   19924442
  REMARK    GeneRIF: DP1L1 polymorphisms are associated with colon cancer and
            IBD. This indicates that DP1L1 plays a functional role in these
            conditions. Thus DP1L1 may be a diagnostic and therapeutic target
            for colon cancer and IBD.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 1360)
  AUTHORS   Saito,H., Kubota,M., Roberts,R.W., Chi,Q. and Matsunami,H.
  TITLE     RTP family members induce functional expression of mammalian
            odorant receptors
  JOURNAL   Cell 119 (5), 679-691 (2004)
   PUBMED   15550249
REFERENCE   10 (bases 1 to 1360)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Ray,S., Behal,A.,
            Touchman,J.W., Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of human retina for the NEIBank
            Project: retbindin, an abundant, novel retinal cDNA and alternative
            splicing of other retina-preferred gene transcripts
  JOURNAL   Mol Vis 8, 196-204 (2002)
   PUBMED   12107411
  REMARK    Publication Status: Online-Only
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC008201.1 and BU728980.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_138393.3.
            
            Summary: The protein encoded by this gene may be involved in the
            transport of receptors from the endoplasmic reticulum (ER) to the
            cell surface. The encoded protein may also play a role in
            regulating ER membrane structure. This gene is required for the
            proper development of retinal rods and photoreceptors, with defects
            in this gene being associated with retinitis pigmentosa 77.
            [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon compared to variant 1. The resulting isoform (2) has the same
            N- and C-termini but is shorter compared to isoform 1.
            
            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 :: SRR5189667.102880.1, BC008201.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000233596.8/ ENSP00000233596.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1358              BC008201.1         16-1373
            1359-1360           BU728980.1         18-19               c
FEATURES             Location/Qualifiers
     source          1..1360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19p13.3"
     gene            1..1360
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /note="receptor accessory protein 6"
                     /db_xref="GeneID:92840"
                     /db_xref="HGNC:HGNC:30078"
                     /db_xref="MIM:609346"
     exon            1..204
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /inference="alignment:Splign:2.1.0"
     CDS             90..644
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /note="isoform 2 is encoded by transcript variant 2;
                     deleted in polyposis 1-like 1; polyposis locus protein
                     1-like 1; receptor expression-enhancing protein 6"
                     /codon_start=1
                     /product="receptor expression-enhancing protein 6 isoform
                     2"
                     /protein_id="NP_612402.1"
                     /db_xref="CCDS:CCDS12070.1"
                     /db_xref="GeneID:92840"
                     /db_xref="HGNC:HGNC:30078"
                     /db_xref="MIM:609346"
                     /translation="MDGLRQRVEHFLEQRNLVTEVLGALEAKTGVEKRYLAAGAVTLL
                     SLYLLFGYGASLLCNLIGFVYPAYASIKAIESPSKDDDTVWLTYWVVYALFGLAEFFS
                     DLLLSWFPFYYVGKCAFLLFCMAPRPWNGALMLYQRVVRPLFLRHHGAVDRIMNDLSG
                     RALDAAAGITRNVKPSQTPQPKDK"
     exon            205..298
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /inference="alignment:Splign:2.1.0"
     exon            299..437
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /inference="alignment:Splign:2.1.0"
     exon            438..606
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /inference="alignment:Splign:2.1.0"
     exon            607..1360
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1339..1344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /note="hexamer: AATAAA"
     polyA_site      1360
                     /gene="REEP6"
                     /gene_synonym="C19orf32; DP1L1; REEP6.1; REEP6.2; RP77;
                     TB1; TB2L1; Yip2f"
                     /note="major polyA site"
ORIGIN      
        1 aggctgcggg aaagcggtgc gcgtgcagcg gggtgggtgc cctggtccgc gggcgagctc
       61 gagcagccaa ccccgggcgc gtcggggcca tggacggcct gaggcagcgc gtggagcact
      121 tcctggagca aaggaacctg gtcaccgaag tgctgggggc gctggaggcc aagaccgggg
      181 tggagaagcg gtatctggct gcaggagccg tcactctgct aagcctgtat ctgctgttcg
      241 gctacggagc gtctctgctg tgcaatctca tcggatttgt gtaccccgca tatgcctcaa
      301 tcaaagctat cgagagccca agcaaggacg acgacactgt gtggctcacc tactgggtgg
      361 tgtacgccct gtttgggctg gccgagttct tcagcgatct actcctgtcc tggttccctt
      421 tctactacgt gggcaagtgc gccttcctgt tgttctgcat ggctcccagg ccctggaacg
      481 gggctctcat gctgtatcag cgcgtcgtgc gtccgctgtt cctaaggcac cacggggccg
      541 tagacagaat catgaacgac ctcagcgggc gagccctgga cgcggcggcc ggaataacca
      601 ggaacgtcaa gccaagccag accccgcagc cgaaggacaa gtgaagcagc cccctgagcc
      661 tcacaaggac ctcctggctg gtgaggaggg ggccgcgcca ggctcccagg cctccacaga
      721 gtcttcagcg catcccccaa cagcagcccc tgccagtccc tcgggtccag gcaaggccct
      781 gggggtctcc ttaaatgcca cctcgggcaa gtcccagtcc cagtcctcgg ccacccccag
      841 ctctggatcc cagggccagc tgccctctgg ctctggctgt ggctcccgcc tgtccggcag
      901 ggcccagggc cagcgtcggg cacagggcag ctcccactgg tctcggcaac acacccagcc
      961 gcctggtact tcctccagcc cctcccagtc agccctcccg tcctcggggc ccctgcagcc
     1021 acccaacgtc acctccagcc cggtctcacc catggtccag tctcccagca gcagcaacat
     1081 ccccacgcag ccccccagca agtcctctgg caagccggag gacgcagccc ccaagaccag
     1141 cggacagcgc cagaaggaat cgtcgaaaca gcctgccagc agcgcctcag tgcccgagct
     1201 ggtcccctgc cattccggga cctctctgga gtacacttcg gagtccacca ccgagatcac
     1261 ctgcagctgg ccacaccaca ggcccccgtg cctgcagcac tactggtgcc tgaaacacct
     1321 ggcctgctag gaggctccaa taaagctaac ccggaccaga
//
