LOCUS       NM_001034850            3208 bp    mRNA    linear   PRI 12-NOV-2024
DEFINITION  Homo sapiens reticulophagy regulator 1 (RETREG1), transcript
            variant 1, mRNA.
ACCESSION   NM_001034850
VERSION     NM_001034850.3
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 3208)
  AUTHORS   Wang,A., Li,Z., Zhang,D., Chen,C. and Zhang,H.
  TITLE     Excessive ER-phagy mediated by FAM134B contributes to trophoblast
            cell mitochondrial dysfunction in preeclampsia
  JOURNAL   Acta Biochim Biophys Sin (Shanghai) 56 (10), 1446-1459 (2024)
   PUBMED   38774969
  REMARK    GeneRIF: Excessive ER-phagy mediated by FAM134B contributes to
            trophoblast cell mitochondrial dysfunction in preeclampsia.
REFERENCE   2  (bases 1 to 3208)
  AUTHORS   Wang,H., Liu,L., Gong,H. and Li,H.
  TITLE     Upregulation of FAM134B inhibits endoplasmic reticulum
            stress-related degradation protein expression and promotes
            hepatocellular carcinogenesis
  JOURNAL   J Cell Mol Med 28 (5), e17964 (2024)
   PUBMED   37728036
  REMARK    GeneRIF: Upregulation of FAM134B inhibits endoplasmic reticulum
            stress-related degradation protein expression and promotes
            hepatocellular carcinogenesis.
REFERENCE   3  (bases 1 to 3208)
  AUTHORS   Xie,B., Xie,Y., Fang,C., Zhong,B., Ye,R., Zhang,J., Liu,Q. and
            Li,H.
  TITLE     Elevated FAM134B expression induces radiation-sensitive in
            hepatocellular carcinoma
  JOURNAL   BMC Cancer 23 (1), 671 (2023)
   PUBMED   37460952
  REMARK    GeneRIF: Elevated FAM134B expression induces radiation-sensitive in
            hepatocellular carcinoma.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3208)
  AUTHORS   Kasem,K., Gopalan,V., Salajegheh,A., Lu,C.T., Smith,R.A. and
            Lam,A.K.
  TITLE     JK1 (FAM134B) gene and colorectal cancer: a pilot study on the gene
            copy number alterations and correlations with clinicopathological
            parameters
  JOURNAL   Exp Mol Pathol 97 (1), 31-36 (2014)
   PUBMED   24825067
  REMARK    GeneRIF: The changes in JK1 DNA copy number associated with
            progression of colorectal neoplasms.A decrease in JK-1 copy number
            was correlated with a shorter disease-free survival time.
REFERENCE   5  (bases 1 to 3208)
  AUTHORS   Ilgaz Aydinlar,E., Rolfs,A., Serteser,M. and Parman,Y.
  TITLE     Mutation in FAM134B causing hereditary sensory neuropathy with
            spasticity in a Turkish family
  JOURNAL   Muscle Nerve 49 (5), 774-775 (2014)
   PUBMED   24327336
  REMARK    GeneRIF: Homozygous FAM134B mutation was found in Turkish siblings
            with hereditary sensory neuropathy type 2.
REFERENCE   6  (bases 1 to 3208)
  AUTHORS   Murphy,S.M., Davidson,G.L., Brandner,S., Houlden,H. and Reilly,M.M.
  TITLE     Mutation in FAM134B causing severe hereditary sensory neuropathy
  JOURNAL   J Neurol Neurosurg Psychiatry 83 (1), 119-120 (2012)
   PUBMED   21115472
  REMARK    GeneRIF: case report of homozygous nonsense mutation p.Q145X
            causing severe hereditary sensory neuropathy
REFERENCE   7  (bases 1 to 3208)
  AUTHORS   Kong,M., Kim,Y. and Lee,C.
  TITLE     A strong synergistic epistasis between FAM134B and TNFRSF19 on the
            susceptibility to vascular dementia
  JOURNAL   Psychiatr Genet 21 (1), 37-41 (2011)
   PUBMED   21127458
  REMARK    GeneRIF: The FAM134B and TNFRSF19 showed a dramatically strong
            synergistic epistasis in explaining the genetic dissection of the
            susceptibility to complex vascular dementia.
REFERENCE   8  (bases 1 to 3208)
  AUTHORS   Kurth,I., Pamminger,T., Hennings,J.C., Soehendra,D., Huebner,A.K.,
            Rotthier,A., Baets,J., Senderek,J., Topaloglu,H., Farrell,S.A.,
            Nurnberg,G., Nurnberg,P., De Jonghe,P., Gal,A., Kaether,C.,
            Timmerman,V. and Hubner,C.A.
  TITLE     Mutations in FAM134B, encoding a newly identified Golgi protein,
            cause severe sensory and autonomic neuropathy
  JOURNAL   Nat Genet 41 (11), 1179-1181 (2009)
   PUBMED   19838196
  REMARK    GeneRIF: show that loss-of-function mutations in FAM134B, encoding
            a newly identified cis-Golgi protein, cause hereditary sensory and
            autonomic neuropathy type II.
REFERENCE   9  (bases 1 to 3208)
  AUTHORS   Tang,W.K., Chui,C.H., Fatima,S., Kok,S.H., Pak,K.C., Ou,T.M.,
            Hui,K.S., Wong,M.M., Wong,J., Law,S., Tsao,S.W., Lam,K.Y.,
            Beh,P.S., Srivastava,G., Chan,A.S., Ho,K.P. and Tang,J.C.
  TITLE     Oncogenic properties of a novel gene JK-1 located in chromosome 5p
            and its overexpression in human esophageal squamous cell carcinoma
  JOURNAL   Int J Mol Med 19 (6), 915-923 (2007)
   PUBMED   17487424
  REMARK    GeneRIF: The overexpression of JK-1(FAM134b) and its transforming
            capacity in normal cells may play a critical role in the molecular
            pathogenesis of esophageal squamous cell carcinoma.
REFERENCE   10 (bases 1 to 3208)
  AUTHORS   Kurth,I.
  TITLE     Hereditary Sensory and Autonomic Neuropathy Type II
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21089229
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC022113.6 and AC020980.6.
            
            On Aug 13, 2020 this sequence version replaced NM_001034850.2.
            
            Summary: The protein encoded by this gene is a cis-Golgi
            transmembrane protein that may be necessary for the long-term
            survival of nociceptive and autonomic ganglion neurons. Mutations
            in this gene are a cause of hereditary sensory and autonomic
            neuropathy type IIB (HSAN IIB), and this gene may also play a role
            in susceptibility to vascular dementia. Alternatively spliced
            transcript variants encoding multiple isoforms have been observed
            for this gene. [provided by RefSeq, Nov 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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##
            Transcript exon combination :: AL832438.1, SRR14038194.2526573.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000306320.10/ ENSP00000304642.9
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-346               AC022113.6         9220-9565
            347-453             AC022113.6         54115-54221
            454-484             AC022113.6         60424-60454
            485-611             AC022113.6         142745-142871
            612-696             AC022113.6         145124-145208
            697-834             AC022113.6         147230-147367
            835-899             AC022113.6         148119-148183
            900-1026            AC022113.6         148429-148555
            1027-3208           AC020980.6         172076-174257       c
FEATURES             Location/Qualifiers
     source          1..3208
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5p15.1"
     gene            1..3208
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="reticulophagy regulator 1"
                     /db_xref="GeneID:54463"
                     /db_xref="HGNC:HGNC:25964"
                     /db_xref="MIM:613114"
     exon            1..346
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     CDS             27..1520
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="isoform 1 is encoded by transcript variant 1;
                     protein FAM134B; reticulophagy receptor FAM134B; family
                     with sequence similarity 134 member B; reticulophagy
                     receptor 1"
                     /codon_start=1
                     /product="reticulophagy regulator 1 isoform 1"
                     /protein_id="NP_001030022.1"
                     /db_xref="CCDS:CCDS43304.1"
                     /db_xref="GeneID:54463"
                     /db_xref="HGNC:HGNC:25964"
                     /db_xref="MIM:613114"
                     /translation="MASPAPPEHAEEGCPAPAAEEQAPPSPPPPQASPAERQQQEEEA
                     QEAGAAEGAGLQVEEAAGRAAAAVTWLLGEPVLWLGCRADELLSWKRPLRSLLGFVAA
                     NLLFWFLALTPWRVYHLISVMILGRVIMQIIKDMVLSRTRGAQLWRSLSESWEVINSK
                     PDERPRLSHCIAESWMNFSIFLQEMSLFKQQSPGKFCLLVCSVCTFFTILGSYIPGVI
                     LSYLLLLCAFLCPLFKCNDIGQKIYSKIKSVLLKLDFGIGEYINQKKRERSEADKEKS
                     HKDDSELDFSALCPKISLTVAAKELSVSDTDVSEVSWTDNGTFNLSEGYTPQTDTSDD
                     LDRPSEEVFSRDLSDFPSLENGMGTNDEDELSLGLPTELKRKKEQLDSGHRPSKETQS
                     AAGLTLPLNSDQTFHLMSNLAGDVITAAVTAAIKDQLEGVQQALSQAAPIPEEDTDTE
                     EGDDFELLDQSELDQIESELGLTQDQEAEAQQNKKSSGFLSNLLGGH"
     exon            347..453
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     exon            454..484
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     exon            485..611
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     exon            612..696
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     exon            697..834
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     exon            835..899
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     exon            900..1026
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     exon            1027..3208
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      1564
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="major polyA site"
     regulatory      3202..3207
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="hexamer: TATAAA"
     polyA_site      3208
                     /gene="RETREG1"
                     /gene_synonym="FAM134B; JK-1; JK1"
                     /note="major polyA site"
ORIGIN      
        1 gtccctgtct ggaagcacag ctgaagatgg cgagcccggc gcctccggag cacgccgagg
       61 agggatgccc ggctcctgcc gccgaggagc aggcgccgcc gtcgccgcca ccgccccagg
      121 catcccccgc agagcggcag cagcaggagg aggaagcgca ggaagctggg gcggcggagg
      181 gcgcggggtt gcaggtggag gaggccgcgg gccgggcggc ggccgcggta acctggctgc
      241 tcggggagcc ggtgctgtgg ctgggctgcc gcgccgacga gctgctgagc tggaagaggc
      301 cgctgcggag cctgctcggc ttcgtcgctg ccaacctgct gttctggttc cttgcattga
      361 ctccatggag agtatatcac ctgatttccg tcatgatact tgggcgtgtt attatgcaaa
      421 taataaagga tatggttttg tctagaacaa gaggtgcaca gttgtggaga agcctcagtg
      481 aaagctggga agttatcaat tccaaaccag atgaaagacc caggctcagc cactgtattg
      541 cagaatcatg gatgaatttc agcatatttc ttcaagaaat gtctcttttt aaacagcaga
      601 gccctggcaa gttttgtctc ctggtctgta gtgtgtgcac attttttacg atcttgggaa
      661 gttacattcc tggggttata ctcagctatc tactgttact gtgtgcattt ttgtgtccat
      721 tgtttaaatg taatgatatt ggacaaaaaa tttacagcaa aattaagtca gttctgctga
      781 aactggattt tggaattgga gaatatatta atcagaagaa acgtgagaga tctgaagcag
      841 acaaagaaaa aagtcacaaa gatgacagtg aattagactt ttcagctctt tgtcctaaga
      901 ttagcctcac ggttgctgcc aaagagttat ctgtgtctga cacagacgtc tcagaggtat
      961 cctggactga taatgggacc ttcaaccttt cagaaggata cactccacag acagacactt
     1021 ctgatgatct tgaccgaccc agtgaggaag ttttctctag agatctttca gattttccat
     1081 ctctagaaaa tggcatggga acaaatgatg aagatgaatt aagccttggt ttgcccactg
     1141 agctcaagag aaagaaggaa cagttggaca gtggtcacag accaagcaaa gagacgcaat
     1201 cagcagctgg tctcaccctt cctctgaaca gtgaccaaac ctttcacctg atgagcaacc
     1261 tggctgggga tgttatcaca gctgcagtga ctgcagctat caaagaccag ttagagggtg
     1321 tgcagcaagc actttctcag gctgccccca tcccagaaga ggacacagac actgaagaag
     1381 gtgatgactt tgaactactt gaccagtcag agctggatca aattgagagt gaattgggac
     1441 ttacacaaga ccaggaagca gaagcacagc aaaataagaa gtcttcaggt ttcctttcaa
     1501 atctgctggg aggccattaa tctaggaatc agcttgcaac agagcacaaa aaacaccaaa
     1561 aaaatttcaa acaagaaaaa aaaaaaaaaa aggaaaagaa aaaaattgaa ctgtaagctt
     1621 taatgattac tttagatttg ttttattttc cctcctgcag tgaattaatt ggatatatat
     1681 cagctgacac tgatagattg atatttctga tcgttatttt tgtgtaataa gcatggaaat
     1741 gaactttata cacaccactg tgttgtcaga gataaatatt aggggttgtt tttaaagcaa
     1801 aaagaaaaaa acaaaaacca aactattaaa atcctcctat aaatattctt tttctttaca
     1861 gtttttcaag catgcaaaac agtttattgt aacttactga aaaatattaa caattaattg
     1921 tgaatacatg ctgttaccag cttccttatt cctaatacct ggaaaatttt tttttcaacg
     1981 gatagatttt gatgtaaaaa agaccgaaat tatcaaggta tcttagttga aggacttggg
     2041 aaatactatc aaaattaatt tcttaggaaa aaatttaaaa gtatatttaa gtactctgga
     2101 tagactgaaa cgtttccatg ttatttctgc agttgtagac ttaggcttat ttgtaaagaa
     2161 gcatgctcca ttgactgcca tctctagtct tgcagtgggt ggtattaacc catagaaagc
     2221 aagcagttgt gtatcacata gacaatggtt atgatgtaaa cagattcagt tgttttgttg
     2281 ttcattcgtc atatgtttgt gatagggatg ttgggagcac agctctattc tgcctgctca
     2341 gacttaagtt agacccttat cttttatatt atgtcatgaa aaaagtctcc taaaattgtg
     2401 aaactagttc ttgatgagtg atgtgatcat cagcaataaa gatataataa ctctgttttc
     2461 ttagcctgta tagaggagag gaacttgctt ggctttaaaa tatatttatt tgccatttaa
     2521 gtataaatat ggaatctgtt tcttattggg aagatagaat atatatattt tcctttaaac
     2581 tttttaaggt cacttttaaa taaccaaatt tgatttatgg tttttaacaa aggactaaag
     2641 agctgaaacc aacctagttt tgtttttgtg atataaactt taagtgtcga gggaccatgc
     2701 cagcaactac caaaaatctc ttaaatcttc aggtacagct ggcattttgg cagatgcata
     2761 gagacatctg agaccctcag aaaggaagga taatccaaga atataggaaa tctgtgttct
     2821 cttcctttca ttttatccct tatatttcta aagactaatt ataagtaatc tgacatttta
     2881 atgtagctac tcttatttat tttttctttc tgaggtatta aaatatctgg actgagtttt
     2941 gccaaatgtt aaagggagaa gagttactga agactttgaa cacttgcttt ttgtgattgc
     3001 ttatgtcatt agtgcctcat gactgtgttt gatgtccttt attgatacaa agtgagcctg
     3061 tgccttcatt atcttgccca ttttaataca aatggaaacc tggtgtttga aaatctctga
     3121 actgtgtggg ttttggagga atatacctga attttattca ataacagttt ctggacagga
     3181 agaaaaatac agttacatat ttataaaa
//
