LOCUS       NM_001164732            3594 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens receptor accessory protein 1 (REEP1), transcript
            variant 4, mRNA.
ACCESSION   NM_001164732
VERSION     NM_001164732.2
KEYWORDS    RefSeq.
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 3594)
  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 3594)
  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 3594)
  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 3594)
  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 3594)
  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 3594)
  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 3594)
  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 3594)
  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 3594)
  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 3594)
  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 AK023172.1, AK297201.1,
            AL080222.1 and BI493883.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001164732.1.
            
            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].
            
            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 :: AK297201.1, DA489089.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03465404 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            gene product(s) localized to mito. :: inferred from homology
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-37                AK023172.1         29-65
            38-1006             AK297201.1         1-969
            1007-2597           AK023172.1         1270-2860
            2598-3587           AL080222.1         1898-2887
            3588-3594           BI493883.1         495-501
FEATURES             Location/Qualifiers
     source          1..3594
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p11.2"
     gene            1..3594
                     /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..548
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /note="isoform 4 is encoded by transcript variant 4;
                     receptor expression-enhancing protein 1; spastic
                     paraplegia 31 protein"
                     /codon_start=1
                     /product="receptor expression-enhancing protein 1 isoform
                     4"
                     /protein_id="NP_001158204.1"
                     /db_xref="CCDS:CCDS54373.1"
                     /db_xref="GeneID:65055"
                     /db_xref="HGNC:HGNC:25786"
                     /db_xref="MIM:609139"
                     /translation="MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWII
                     FALFTTAETFTDIFLCWDRVPYRRDCGASACRTSPPSGETAPLLPRAPHHRGLGGPAA
                     NTASLRCPGVLLRALAAQAPPRILRSRFRKKSTSSSATETT"
     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..476
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     exon            477..3594
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3564..3569
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REEP1"
                     /gene_synonym="C2orf23; DSMA6; HMN5B; HMND12; HMNR6;
                     SPG31; Yip2a"
                     /note="hexamer: AATAAA"
     polyA_site      3594
                     /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 ctttgttggg
      301 acagggtgcc ttatcggaga gactgcggag cttcagcatg caggacctca ccaccatcag
      361 gggagacggc gcccctgctc cctcgggccc cccaccaccg gggtctgggc gggccagcgg
      421 caaacacggc cagcctaaga tgtccaggag tgcttctgag agcgctagca gctcaggcac
      481 cgcctagaat ccttcgatct cgcttcagga agaaaagtac ctcatcctcg gccaccgaaa
      541 ccacgtgagt gagatgagcc aacagcaccg gatccacaga atgtttcttc tctgccttaa
      601 agagctattc actaataaca tagaaatccg caagctgggt gtgctttgag tgtgcagcct
      661 cacaaacatg gccttttctc tctccccttc cacttttaag gatttatttt tttccccctt
      721 ttctttattt tgctggggag aggctaaagg gaaaggtagt aggggcgggg gtggtgacct
      781 ttaagtcttc tgaggttggt aattttccac aattggattg tcattataga cagcagtgtg
      841 ttttttagaa agataagaga atcaccccta tgctgctgag atgtacattt gtaatttatc
      901 tgttgcatac ttagttttta gtcctgtaaa tgcaaacaca gcatttttta caactttctt
      961 tgttcttggt acttatactt tgaactatga tgtacatatt tatggctttt ggcttttaat
     1021 ataatggact tgcaagggct gccagaggtt ctgatatgta agaaaactgc aaaaacaaat
     1081 atagacaaat attttgattc tagagaacgt ctcagatgtg cttataaagc ttccaaatac
     1141 aactccagta agacatccct ttccctgcag gagtgtggtc tatattcttt agatagttgt
     1201 ttagtcaaaa gaccagacaa gttacaaact aagagaaaca atatttcaca acacagtaaa
     1261 gtgtgatgag aggtcagggg aacatcccag taaaagagaa gagtcacagg aagctcatct
     1321 cctccctgga ttctggatta ggagcttctg aatcttttcc agggataggc aggtagctca
     1381 ctcttggtgc aatttcttga ggatgggaac atgtagagct gctggaagga gtaattctgt
     1441 gcttgacaaa ggacgatttc tcctttatcg tgaccagtgc tgccgatttc ctgacagagg
     1501 agcttacact ctgagcacct tgttttagcg aactctagca aaacttgttt agcttagcaa
     1561 aaacaaacac acaaaaaact gagaactctg ctgtttcaga tatgccataa catacatctg
     1621 aaacacatgt gtaacaatca aaatggtggg ctctagaatg gttttggagc tcgagatctt
     1681 catgggttag acttgctggt cagacccagg agcacctgtg gctcacacct tctgttcccc
     1741 tcctggcctg tgcagaatgt aaacagcaga ctcatactca atgggcacta caggccttat
     1801 cagacgtttt atacaagcct ggattgctta gtaggggaat aaggcattct ctgagggggc
     1861 tttccactta gattgagaat tttatttgaa aagaatctgg tttaaatggc attgtggtcc
     1921 gaggtagctg ctctccccac tgagagctga gccgaaatat aagaataata tatttgtgct
     1981 tcgagttggt gtttctttca gtgtaatgca tgcagtggtc acaacccagt tactcataat
     2041 atttggattg tatttgttcg tagatatgcc cagaagacta gagaattagt gttatatacc
     2101 atatagaact tactgtcagt caactataaa caggcccaat taaaaactgt tccattacta
     2161 cgcaaacaca tattagaggc ctttgctgat gacacattag ctggatctta gccaccccag
     2221 aaagggtttg atttgaagct gattgttgcc agatatgcat attggaatcc catctaccca
     2281 tagttcctct gaaggtgatt ttgtaatttg caaaagggta taggaaaata tacctaaaag
     2341 cgaatttgtg gctgagagga taaacagaag ctgtttgctc atgttctgtg ccccacaccc
     2401 accaatacct aaatctgtta aggaagacag aaaatgtttt ctttgtgctc attgagtagt
     2461 tccagacaga agaagaatat actctttaaa atgtatttac ctgttagttg gaagtaccca
     2521 gaattatcag aaacgaatgc aaaaaaaaaa aaaaaaaaaa aaagcttaca cagcttctta
     2581 gcaatttttt tttttttgcc gaaacaataa attgccttta gcagcagttt aaaatcctat
     2641 cgtgaacaac ctatattttc gccattttac aatggagagt tgtgacaagt acaggttatc
     2701 aagtttgcac ttaactatgc caaaaaaagt ttgaagcgct ctattctcag acatgctgta
     2761 ttattacttc tcattcaaga ttgaaaaata taaaggtatc caaactctgt cttaatgtaa
     2821 atgtaactat ttttccttca agtgttgact agggagtcgg tttctctctt aaagacactc
     2881 actgtacaac tgaaagcagc tgtcatattt ctggcaaaat gtgtttacgt atctgacaag
     2941 ttgtacattt gtgtatgaac tgacataaaa tgtgaaagcc tgtaagtgta catgtagtgg
     3001 tgtggtgttc tgtctagagg atacaactga atgtttttaa tttgctgact tacagacaca
     3061 ggctgtttac aaaatgctag ctggaaagtc tgtaatgttc atgtcataac ttttagttaa
     3121 ttgccattga gcacctgttc tgaggaggtg agatgtggac ttgtgcttat aaactggaga
     3181 gtttagtcat aatccctcct ggctttgtgt gaatagcttg ctcactttgc tggcctttga
     3241 aatgtgttct ccgtgataag ctatccatgt gtttgtgata agagtgcttg tcaaccatga
     3301 ccatctttga gccttcctag tcctccacct ggcacagtat ttgaaatggc aaaggatgtg
     3361 cttcatcctc taacagtgta cactcccaga gctgatattc tggattttga ctgtgcacat
     3421 ttcctctagt tcatgtctgt agtccctata gaatgatctg taataaaata gtatactgga
     3481 ctgtgcatca aagggatgta aaattacagt attccaaagg ttgaagttct gctgttttgt
     3541 tataatgcct gatacacatc ttgaataaag tcttaacatt tttcttttaa aaaa
//
