LOCUS       NM_001371279            4017 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens receptor accessory protein 1 (REEP1), transcript
            variant 5, mRNA.
ACCESSION   NM_001371279 XM_005264502
VERSION     NM_001371279.1
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 4017)
  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   2  (bases 1 to 4017)
  AUTHORS   Xu,G., Niu,Y., Chen,S., Shu,J., Dang,L., Zhao,P. and Cai,C.
  TITLE     [Deletional variant of REEP1 gene in a pedigree affected with
            spastic paraplegia type 31]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 36 (6), 581-583 (2019)
   PUBMED   31055810
  REMARK    GeneRIF: deletional variation of the REEP1 gene probably underlies
            the disease in this pedigree
REFERENCE   3  (bases 1 to 4017)
  AUTHORS   Toft,A., Birk,S., Ballegaard,M., Duno,M., Hjermind,L.E.,
            Nielsen,J.E. and Svenstrup,K.
  TITLE     Peripheral neuropathy in hereditary spastic paraplegia caused by
            REEP1 variants
  JOURNAL   J Neurol 266 (3), 735-744 (2019)
   PUBMED   30637453
  REMARK    GeneRIF: REEP1 variants cause polyneuropathy in SPG31.
REFERENCE   4  (bases 1 to 4017)
  AUTHORS   Jia,X., Madireddy,L., Caillier,S., Santaniello,A., Esposito,F.,
            Comi,G., Stuve,O., Zhou,Y., Taylor,B., Kilpatrick,T.,
            Martinelli-Boneschi,F., Cree,B.A.C., Oksenberg,J.R., Hauser,S.L.
            and Baranzini,S.E.
  TITLE     Genome sequencing uncovers phenocopies in primary progressive
            multiple sclerosis
  JOURNAL   Ann Neurol 84 (1), 51-63 (2018)
   PUBMED   29908077
  REMARK    GeneRIF: The REEP1 c.606 + 43G>T caused Spastic Paraplegia and
            primary progressive multiple sclerosis.
REFERENCE   5  (bases 1 to 4017)
  AUTHORS   Bock,A.S., Gunther,S., Mohr,J., Goldberg,L.V., Jahic,A., Klisch,C.,
            Hubner,C.A., Biskup,S. and Beetz,C.
  TITLE     A nonstop variant in REEP1 causes peripheral neuropathy by
            unmasking a 3'UTR-encoded, aggregation-inducing motif
  JOURNAL   Hum Mutat 39 (2), 193-196 (2018)
   PUBMED   29124833
  REMARK    GeneRIF: Study identified a heterozygous nonstop variant in REEP1.
            Mutations in this gene have classically been associated with the
            upper motor neuron disorder hereditary spastic paraplegia (HSP).
REFERENCE   6  (bases 1 to 4017)
  AUTHORS   Behrens,M., Bartelt,J., Reichling,C., Winnig,M., Kuhn,C. and
            Meyerhof,W.
  TITLE     Members of RTP and REEP gene families influence functional bitter
            taste receptor expression
  JOURNAL   J Biol Chem 281 (29), 20650-20659 (2006)
   PUBMED   16720576
  REMARK    GeneRIF: RTP and REEP gene expression in human circumvallate
            papillae and testis, both of which are sites of taste receptor gene
            expression.
REFERENCE   7  (bases 1 to 4017)
  AUTHORS   Clark,A.J., Metherell,L.A., Cheetham,M.E. and Huebner,A.
  TITLE     Inherited ACTH insensitivity illuminates the mechanisms of ACTH
            action
  JOURNAL   Trends Endocrinol Metab 16 (10), 451-457 (2005)
   PUBMED   16271481
  REMARK    Review article
REFERENCE   8  (bases 1 to 4017)
  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   9  (bases 1 to 4017)
  AUTHORS   Robertson,N.G., Khetarpal,U., Gutierrez-Espeleta,G.A., Bieber,F.R.
            and Morton,C.C.
  TITLE     Isolation of novel and known genes from a human fetal cochlear cDNA
            library using subtractive hybridization and differential screening
  JOURNAL   Genomics 23 (1), 42-50 (1994)
   PUBMED   7829101
REFERENCE   10 (bases 1 to 4017)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC009408.4 and AC009309.4.
            
            On Jul 6, 2019 this sequence version replaced XM_005264502.2.
            
            Summary: This gene encodes a mitochondrial protein that functions
            to enhance the cell surface expression of odorant receptors.
            Mutations in this gene cause spastic paraplegia autosomal dominant
            type 31, a neurodegenerative disorder. Alternative splicing results
            in multiple transcript variants. [provided by RefSeq, Sep 2009].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2149178 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            inferred exon combination          :: based on alignments, homology
            MANE Ensembl match                 :: ENST00000538924.7/
                                                  ENSP00000438346.3
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-148               AC009408.4         52513-52660
            149-221             AC009408.4         107897-107969
            222-298             AC009408.4         126098-126174
            299-419             AC009408.4         135325-135445
            420-533             AC009408.4         138069-138182
            534-711             AC009408.4         157337-157514
            712-747             AC009408.4         162741-162776
            748-899             AC009309.4         453-604
            900-4017            AC009309.4         3464-6581
FEATURES             Location/Qualifiers
     source          1..4017
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..4017
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /note="receptor accessory protein 1"
                     /db_xref="GeneID:65055"
                     /db_xref="HGNC:HGNC:25786"
                     /db_xref="MIM:609139"
     exon            1..148
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     CDS             117..971
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /note="isoform 5 is encoded by transcript variant 5;
                     receptor expression-enhancing protein 1; spastic
                     paraplegia 31 protein"
                     /codon_start=1
                     /product="receptor expression-enhancing protein 1 isoform
                     5"
                     /protein_id="NP_001358208.1"
                     /db_xref="CCDS:CCDS92798.1"
                     /db_xref="GeneID:65055"
                     /db_xref="HGNC:HGNC:25786"
                     /db_xref="MIM:609139"
                     /translation="MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWII
                     FALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKE
                     IDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIR
                     GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNE
                     GGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKST
                     SSSATETT"
     exon            149..221
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            222..298
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            299..419
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            420..533
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            534..711
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            712..747
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            748..899
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            900..4017
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3987..3992
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /note="hexamer: AATAAA"
     polyA_site      4017
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /note="major polyA site"
ORIGIN      
        1 agtctggcgg cggctgccgt gagctgactg acgttccggg aacgccgcag cagcccgcgc
       61 cgcccgcagc ctagccgagc cgcgccgccc gggcctcgcc cgcccgcctg cccgccatgg
      121 tgtcatggat catctccagg ctggtggtgc ttatatttgg caccctttac cctgcgtatt
      181 attcctacaa ggctgtgaaa tcaaaggaca ttaaggaata tgtcaaatgg atgatgtact
      241 ggattatatt tgcacttttc accacagcag agacattcac agacatcttc ctttgttggt
      301 ttccattcta ttatgaacta aaaatagcat ttgtagcctg gctgctgtct ccctacacaa
      361 aaggctccag cctcctgtac aggaagtttg tacatcccac gctatcttca aaagaaaagg
      421 aaatcgatga ttgtctggtc caagcaaaag accgaagtta cgatgccctt gtgcacttcg
      481 ggaagcgggg cttgaacgtg gccgccacag cggctgtgat ggctgcttcc aagggacagg
      541 gtgccttatc ggagagactg cggagcttca gcatgcagga cctcaccacc atcaggggag
      601 acggcgcccc tgctccctcg ggccccccac caccggggtc tgggcgggcc agcggcaaac
      661 acggccagcc taagatgtcc aggagtgctt ctgagagcgc tagcagctca gtgtgtacct
      721 gctgctccac ctgcaggacc tggaaagtgg ttgagggaga tgtgaatgag ggtggtatga
      781 aggcatggga gccccaccag gtccaaaacc cattggcgtt ttctgacgac gaggaggaag
      841 acctgctgga tttcatgtac aagtataaag cacctcgaag gatggaattg cccctggagg
      901 caccgcctag aatccttcga tctcgcttca ggaagaaaag tacctcatcc tcggccaccg
      961 aaaccacgtg agtgagatga gccaacagca ccggatccac agaatgtttc ttctctgcct
     1021 taaagagcta ttcactaata acatagaaat ccgcaagctg ggtgtgcttt gagtgtgcag
     1081 cctcacaaac atggcctttt ctctctcccc ttccactttt aaggatttat ttttttcccc
     1141 cttttcttta ttttgctggg gagaggctaa agggaaaggt agtaggggcg ggggtggtga
     1201 cctttaagtc ttctgaggtt ggtaattttc cacaattgga ttgtcattat agacagcagt
     1261 gtgtttttta gaaagataag agaatcaccc ctatgctgct gagatgtaca tttgtaattt
     1321 atctgttgca tacttagttt ttagtcctgt aaatgcaaac acagcatttt ttacaacttt
     1381 ctttgttctt ggtacttata ctttgaacta tgatgtacat atttatggct tttggctttt
     1441 aatataatgg acttgcaagg gctgccagag gttctgatat gtaagaaaac tgcaaaaaca
     1501 aatatagaca aatattttga ttctagagaa cgtctcagat gtgcttataa agcttccaaa
     1561 tacaactcca gtaagacatc cctttccctg caggagtgtg gtctatattc tttagatagt
     1621 tgtttagtca aaagaccaga caagttacaa actaagagaa acaatatttc acaacacagt
     1681 aaagtgtgat gagaggtcag gggaacatcc cagtaaaaga gaagagtcac aggaagctca
     1741 tctcctccct ggattctgga ttaggagctt ctgaatcttt tccagggata ggcaggtagc
     1801 tcactcttgg tgcaatttct tgaggatggg aacatgtaga gctgctggaa ggagtaattc
     1861 tgtgcttgac aaaggacgat ttctccttta tcgtgaccag tgctgccgat ttcctgacag
     1921 aggagcttac actctgagca ccttgtttta gcgaactcta gcaaaacttg tttagcttag
     1981 caaaaacaaa cacacaaaaa actgagaact ctgctgtttc agatatgcca taacatacat
     2041 ctgaaacaca tgtgtaacaa tcaaaatggt gggctctaga atggttttgg agctcgagat
     2101 cttcatgggt tagacttgct ggtcagaccc aggagcacct gtggctcaca ccttctgttc
     2161 ccctcctggc ctgtgcagaa tgtaaacagc agactcatac tcaatgggca ctacaggcct
     2221 tatcagacgt tttatacaag cctggattgc ttagtagggg aataaggcat tctctgaggg
     2281 ggctttccac ttagattgag aattttattt gaaaagaatc tggtttaaat ggcattgtgg
     2341 tccgaggtag ctgctctccc cactgagagc tgagccgaaa tataagaata atatatttgt
     2401 gcttcgagtt ggtgtttctt tcagtgtaat gcatgcagtg gtcacaaccc agttactcat
     2461 aatatttgga ttgtatttgt tcgtagatat gcccagaaga ctagagaatt agtgttatat
     2521 accatataga acttactgtc agtcaactat aaacaggccc aattaaaaac tgttccatta
     2581 ctacgcaaac acatattaga ggcctttgct gatgacacat tagctggatc ttagccaccc
     2641 cagaaagggt ttgatttgaa gctgattgtt gccagatatg catattggaa tcccatctac
     2701 ccatagttcc tctgaaggtg attttgtaat ttgcaaaagg gtataggaaa atatacctaa
     2761 aagcgaattt gtggctgaga ggataaacag aagctgtttg ctcatgttct gtgccccaca
     2821 cccaccaata cctaaatctg ttaaggaaga cagaaaatgt tttctttgtg ctcattgagt
     2881 agttccagac agaagaagaa tatactcttt aaaatgtatt tacctgttag ttggaagtac
     2941 ccagaattat cagaaacgaa tgcaaaaaaa aaaaaaaaaa aaaaaagctt acacagcttc
     3001 ttagcaattt tttttttttt gccgaaacaa taaattgcct ttagcagcag tttaaaatcc
     3061 tatcgtgaac aacctatatt ttcgccattt tacaatggag agttgtgaca agtacaggtt
     3121 atcaagtttg cacttaacta tgccaaaaaa agtttgaagc gctctattct cagacatgct
     3181 gtattattac ttctcattca agattgaaaa atataaaggt atccaaactc tgtcttaatg
     3241 taaatgtaac tatttttcct tcaagtgttg actagggagt cggtttctct cttaaagaca
     3301 ctcactgtac aactgaaagc agctgtcata tttctggcaa aatgtgttta cgtatctgac
     3361 aagttgtaca tttgtgtatg aactgacata aaatgtgaaa gcctgtaagt gtacatgtag
     3421 tggtgtggtg ttctgtctag aggatacaac tgaatgtttt taatttgctg acttacagac
     3481 acaggctgtt tacaaaatgc tagctggaaa gtctgtaatg ttcatgtcat aacttttagt
     3541 taattgccat tgagcacctg ttctgaggag gtgagatgtg gacttgtgct tataaactgg
     3601 agagtttagt cataatccct cctggctttg tgtgaatagc ttgctcactt tgctggcctt
     3661 tgaaatgtgt tctccgtgat aagctatcca tgtgtttgtg ataagagtgc ttgtcaacca
     3721 tgaccatctt tgagccttcc tagtcctcca cctggcacag tatttgaaat ggcaaaggat
     3781 gtgcttcatc ctctaacagt gtacactccc agagctgata ttctggattt tgactgtgca
     3841 catttcctct agttcatgtc tgtagtccct atagaatgat ctgtaataaa atagtatact
     3901 ggactgtgca tcaaagggat gtaaaattac agtattccaa aggttgaagt tctgctgttt
     3961 tgttataatg cctgatacac atcttgaata aagtcttaac atttttcttt taaaaaa
//
