LOCUS       NM_014685               2853 bp    mRNA    linear   PRI 05-MAR-2025
DEFINITION  Homo sapiens homocysteine inducible ER protein with ubiquitin like
            domain 1 (HERPUD1), transcript variant 1, mRNA.
ACCESSION   NM_014685
VERSION     NM_014685.4
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 2853)
  AUTHORS   Xie,W., Shan,Y., Wu,Z., Liu,N., Yang,J., Zhang,H., Sun,S., Chi,J.,
            Feng,W., Lin,H. and Guo,H.
  TITLE     Herpud1 deficiency alleviates homocysteine-induced aortic valve
            calcification
  JOURNAL   Cell Biol Toxicol 39 (6), 2665-2684 (2023)
   PUBMED   36746840
  REMARK    GeneRIF: Herpud1 deficiency alleviates homocysteine-induced aortic
            valve calcification.
REFERENCE   2  (bases 1 to 2853)
  AUTHORS   Alagappan,L.P., Ramaswamy,Y., Sundaramoorthy,D.K., Bhaskar,J.,
            Sarangapani,S., Sen,P., Raman,R., Bhende,M. and Mathavan,S.
  TITLE     Association of HERPUD1 genetic variant rs2217332 with age-related
            macular degeneration and polypoidal choroidal vasculopathy in an
            Indian cohort
  JOURNAL   Graefes Arch Clin Exp Ophthalmol 261 (4), 1205-1212 (2023)
   PUBMED   36220983
  REMARK    GeneRIF: Association of HERPUD1 genetic variant rs2217332 with
            age-related macular degeneration and polypoidal choroidal
            vasculopathy in an Indian cohort.
REFERENCE   3  (bases 1 to 2853)
  AUTHORS   Nie,X., Liu,D., Zheng,M., Li,X., Liu,O., Guo,Q., Zhu,L. and Lin,B.
  TITLE     HERPUD1 promotes ovarian cancer cell survival by sustaining
            autophagy and inhibit apoptosis via PI3K/AKT/mTOR and p38 MAPK
            signaling pathways
  JOURNAL   BMC Cancer 22 (1), 1338 (2022)
   PUBMED   36544104
  REMARK    GeneRIF: HERPUD1 promotes ovarian cancer cell survival by
            sustaining autophagy and inhibit apoptosis via PI3K/AKT/mTOR and
            p38 MAPK signaling pathways.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2853)
  AUTHORS   Luizet,J.B., Raymond,J., Lacerda,T.L.S., Barbieux,E., Kambarev,S.,
            Bonici,M., Lembo,F., Willemart,K., Borg,J.P., Celli,J.,
            Gerard,F.C.A., Muraille,E., Gorvel,J.P. and Salcedo,S.P.
  TITLE     The Brucella effector BspL targets the ER-associated degradation
            (ERAD) pathway and delays bacterial egress from infected cells
  JOURNAL   Proc Natl Acad Sci U S A 118 (32) (2021)
   PUBMED   34353909
  REMARK    GeneRIF: The Brucella effector BspL targets the ER-associated
            degradation (ERAD) pathway and delays bacterial egress from
            infected cells.
REFERENCE   5  (bases 1 to 2853)
  AUTHORS   Gao,F., Zhang,J., Ni,T., Lin,N., Lin,H., Luo,H., Guo,H. and Chi,J.
  TITLE     Herpud1 deficiency could reduce amyloid-beta40 expression and
            thereby suppress homocysteine-induced atherosclerosis by blocking
            the JNK/AP1 pathway
  JOURNAL   J Physiol Biochem 76 (3), 383-391 (2020)
   PUBMED   32488540
  REMARK    GeneRIF: Herpud1 deficiency could reduce amyloid-beta40 expression
            and thereby suppress homocysteine-induced atherosclerosis by
            blocking the JNK/AP1 pathway.
REFERENCE   6  (bases 1 to 2853)
  AUTHORS   Chtarbova,S., Nimmrich,I., Erdmann,S., Herter,P., Renner,M.,
            Kitajewski,J. and Muller,O.
  TITLE     Murine Nr4a1 and Herpud1 are up-regulated by Wnt-1, but the
            homologous human genes are independent from beta-catenin activation
  JOURNAL   Biochem J 367 (Pt 3), 723-728 (2002)
   PUBMED   12153396
  REMARK    GeneRIF: upregulation by Wnt-1
REFERENCE   7  (bases 1 to 2853)
  AUTHORS   Sai,X., Kawamura,Y., Kokame,K., Yamaguchi,H., Shiraishi,H.,
            Suzuki,R., Suzuki,T., Kawaichi,M., Miyata,T., Kitamura,T., De
            Strooper,B., Yanagisawa,K. and Komano,H.
  TITLE     Endoplasmic reticulum stress-inducible protein, Herp, enhances
            presenilin-mediated generation of amyloid beta-protein
  JOURNAL   J Biol Chem 277 (15), 12915-12920 (2002)
   PUBMED   11799129
  REMARK    GeneRIF: enhances presnilin-mediated generation of amyloid beta
            protein
REFERENCE   8  (bases 1 to 2853)
  AUTHORS   Kokame,K., Kato,H. and Miyata,T.
  TITLE     Identification of ERSE-II, a new cis-acting element responsible for
            the ATF6-dependent mammalian unfolded protein response
  JOURNAL   J Biol Chem 276 (12), 9199-9205 (2001)
   PUBMED   11112790
REFERENCE   9  (bases 1 to 2853)
  AUTHORS   Kokame,K., Agarwala,K.L., Kato,H. and Miyata,T.
  TITLE     Herp, a new ubiquitin-like membrane protein induced by endoplasmic
            reticulum stress
  JOURNAL   J Biol Chem 275 (42), 32846-32853 (2000)
   PUBMED   10922362
REFERENCE   10 (bases 1 to 2853)
  AUTHORS   van Laar,T., Schouten,T., Hoogervorst,E., van Eck,M., van der
            Eb,A.J. and Terleth,C.
  TITLE     The novel MMS-inducible gene Mif1/KIAA0025 is a target of the
            unfolded protein response pathway
  JOURNAL   FEBS Lett 469 (1), 123-131 (2000)
   PUBMED   10708769
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA581153.1, AB034989.1,
            AK223233.1 and AC012181.8.
            
            On Nov 22, 2018 this sequence version replaced NM_014685.3.
            
            Summary: The accumulation of unfolded proteins in the endoplasmic
            reticulum (ER) triggers the ER stress response. This response
            includes the inhibition of translation to prevent further
            accumulation of unfolded proteins, the increased expression of
            proteins involved in polypeptide folding, known as the unfolded
            protein response (UPR), and the destruction of misfolded proteins
            by the ER-associated protein degradation (ERAD) system. This gene
            may play a role in both UPR and ERAD. Its expression is induced by
            UPR and it has an ER stress response element in its promoter region
            while the encoded protein has an N-terminal ubiquitin-like domain
            which may interact with the ERAD system. This protein has been
            shown to interact with presenilin proteins and to increase the
            level of amyloid-beta protein following its overexpression.
            Alternative splicing of this gene produces multiple transcript
            variants encoding different isoforms. The full-length nature of all
            transcript variants has not been determined. [provided by RefSeq,
            Jan 2013].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest 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 :: SRR1660807.253426.1,
                                           SRR1803611.69902.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000439977.7/ ENSP00000409555.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DA581153.1         52-56
            6-1083              AB034989.1         1-1078
            1084-1870           AK223233.1         1079-1865
            1871-2853           AC012181.8         23028-24010         c
FEATURES             Location/Qualifiers
     source          1..2853
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16q13"
     gene            1..2853
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /note="homocysteine inducible ER protein with ubiquitin
                     like domain 1"
                     /db_xref="GeneID:9709"
                     /db_xref="HGNC:HGNC:13744"
                     /db_xref="MIM:608070"
     exon            1..250
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     CDS             104..1279
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /note="isoform 1 is encoded by transcript variant 1;
                     methyl methanesulfonate (MMF)-inducible fragment protein
                     1; MMS-inducible; homocysteine-inducible, endoplasmic
                     reticulum stress-inducible, ubiquitin-like domain member
                     1; homocysteine-responsive endoplasmic reticulum-resident
                     ubiquitin-like domain member 1 protein;
                     homocysteine-inducible endoplasmic reticulum
                     stress-inducible ubiquitin-like domain member 1 protein"
                     /codon_start=1
                     /product="homocysteine-responsive endoplasmic
                     reticulum-resident ubiquitin-like domain member 1 protein
                     isoform 1"
                     /protein_id="NP_055500.1"
                     /db_xref="CCDS:CCDS10771.1"
                     /db_xref="GeneID:9709"
                     /db_xref="HGNC:HGNC:13744"
                     /db_xref="MIM:608070"
                     /translation="MESETEPEPVTLLVKSPNQRHRDLELSGDRGWSVGHLKAHLSRV
                     YPERPRPEDQRLIYSGKLLLDHQCLRDLLPKQEKRHVLHLVCNVKSPSKMPEINAKVA
                     ESTEEPAGSNRGQYPEDSSSDGLRQREVLRNLSSPGWENISRPEAAQQAFQGLGPGFS
                     GYTPYGWLQLSWFQQIYARQYYMQYLAATAASGAFVPPPSAQEIPVVSAPAPAPIHNQ
                     FPAENQPANQNAAPQVVVNPGANQNLRMNAQGGPIVEEDDEINRDWLDWTYSAATFSV
                     FLSILYFYSSLSRFLMVMGATVVMYLHHVGWFPFRPRPVQNFPNDGPPPDVVNQDPNN
                     NLQEGTDPETEDPNHLPPDRDVLDGEQTSPSFMSTAWLVFKTFFASLLPEGPPAIAN"
     exon            251..328
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     exon            329..403
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     exon            404..534
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     exon            535..657
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     exon            658..1008
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     exon            1009..1114
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     exon            1115..2853
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1844..1849
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /note="hexamer: AATAAA"
     polyA_site      1870
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /note="major polyA site"
     regulatory      2832..2837
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
                     /note="hexamer: AATAAA"
     polyA_site      2853
                     /gene="HERPUD1"
                     /gene_synonym="HERP; Mif1; SUP"
ORIGIN      
        1 gccccagaga cgtgaactgt cgttgcagag attgcgggcg gctgagacgc cgcctgcctg
       61 gcacctagga gcgcagcgga gccccgacac cgccgccgcc gccatggagt ccgagaccga
      121 acccgagccc gtcacgctcc tggtgaagag ccccaaccag cgccaccgcg acttggagct
      181 gagtggcgac cgcggctgga gtgtgggcca cctcaaggcc cacctgagcc gcgtctaccc
      241 cgagcgtccg cgtccagagg accagaggtt aatttattct gggaagctgt tgttggatca
      301 ccaatgtctc agggacttgc ttccaaagca ggaaaaacgg catgttttgc atctggtgtg
      361 caatgtgaag agtccttcaa aaatgccaga aatcaacgcc aaggtggctg aatccacaga
      421 ggagcctgct ggttctaatc ggggacagta tcctgaggat tcctcaagtg atggtttaag
      481 gcaaagggaa gttcttcgga acctttcttc ccctggatgg gaaaacatct caaggcctga
      541 agctgcccag caggcattcc aaggcctggg tcctggtttc tccggttaca caccctatgg
      601 gtggcttcag ctttcctggt tccagcagat atatgcacga cagtactaca tgcaatattt
      661 agcagccact gctgcatcag gggcttttgt tccaccacca agtgcacaag agatacctgt
      721 ggtctctgca cctgctccag cccctattca caaccagttt ccagctgaaa accagcctgc
      781 caatcagaat gctgctcctc aagtggttgt taatcctgga gccaatcaaa atttgcggat
      841 gaatgcacaa ggtggcccta ttgtggaaga agatgatgaa ataaatcgag attggttgga
      901 ttggacctat tcagcagcta cattttctgt ttttctcagt atcctctact tctactcctc
      961 cctgagcaga ttcctcatgg tcatgggggc caccgttgtt atgtacctgc atcacgttgg
     1021 gtggtttcca tttagaccga ggccggttca gaacttccca aatgatggtc ctcctcctga
     1081 cgttgtaaat caggacccca acaataactt acaggaaggc actgatcctg aaactgaaga
     1141 ccccaaccac ctccctccag acagggatgt actagatggc gagcagacca gcccctcctt
     1201 tatgagcaca gcatggcttg tcttcaagac tttctttgcc tctcttcttc cagaaggccc
     1261 cccagccatc gcaaactgat ggtgtttgtg ctgtagctgt tggaggcttt gacaggaatg
     1321 gactggatca cctgactcca gctagattgc ctctcctgga catggcaatg atgagttttt
     1381 aaaaaacagt gtggatgatg atatgctttt gtgagcaagc aaaagcagaa acgtgaagcc
     1441 gtgatacaaa ttggtgaaca aaaaatgccc aaggcttctc atgtctttat tctgaagagc
     1501 tttaatatat actctatgta gtttaataag cactgtacgt agaaggcctt aggtgttgca
     1561 tgtctatgct tgaggaactt ttccaaatgt gtgtgtctgc atgtgtgttt gtacatagaa
     1621 gtcatagatg cagaagtggt tctgctggta cgatttgatt cctgttggaa tgtttaaatt
     1681 acactaagtg tactacttta tataatcaat gaaattgcta gacatgtttt agcaggactt
     1741 ttctaggaaa gacttatgta taattgcttt ttaaaatgca gtgctttact ttaaactaag
     1801 gggaactttg cggaggtgaa aacctttgct gggttttctg ttcaataaag ttttactatg
     1861 aatgaccctg gcagagactc ctgtcatcct agcagtttac tctgcgtttg ttgtatctag
     1921 acagtcaaca actgagttgt cggtgtttaa cctgaatgct tgtttttcag aagaggactg
     1981 tttgtgccgg taagaatgat caggtaaggc catgaaagtt tttgttggcg tttttgtttt
     2041 tgagatgggg tcttgctttg ttccttgggc cagagtacat tggctactca caagtgggct
     2101 ggtagctggc tacagcccca gactcctggc ttaagccacc tcctgcctca gccaccctgg
     2161 cagctgggac tacaggcatg cgccatcaca cttagcttga aagttttaat ttactaagaa
     2221 tatacctgtg tttcccccca tttcctgatt taaacagtac tggcttatat aggaacccat
     2281 caaagttaaa ttccccaaat ttaaatttag taaatttagt ggtttcacct tggcaaatct
     2341 gcaatagttt caccagctca aatttcatgc ttttgtaagc tgagcttatg tttgtgattt
     2401 taatccttta agtactactg tggtaactaa tcattttttt gttttttttg gtggtgtttt
     2461 tgtttttgtt ttgagatgga gtctcactct gttgcccagg ctggagtgcc gtggcgcgat
     2521 ctcggctcac tgcaacctct acctcctgag ttcaagcgat tctcctgcct cagcctcccg
     2581 aatagctggg attacaggtg cccaccacaa tgtctggcta attttttgta tttttagtag
     2641 agacgaggtt tcacccatgt tggccaggct ggtctcaaac ccctgacctc aggtgatctg
     2701 cccgcctcgg cctcccaaag tgctgggatt acagatgtga gccaccgcac ccagccaggg
     2761 actaatcttt aaagcaaagt tttatatatt tttacgtgag taatgttatg tgtaggtgtt
     2821 ctatttggca aaataaatca gccttttcta tca
//
