LOCUS       NM_016097               3679 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens immediate early response 3 interacting protein 1
            (IER3IP1), mRNA.
ACCESSION   NM_016097 NM_018522
VERSION     NM_016097.5
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 3679)
  AUTHORS   Zhong,X., Moresco,J.J., Keller,K., Lazaro,D.R., Ely,C.,
            Moresco,E.M.Y., Beutler,B. and Choi,J.H.
  TITLE     Essential requirement for IER3IP1 in B cell development
  JOURNAL   Proc Natl Acad Sci U S A 120 (46), e2312810120 (2023)
   PUBMED   37934820
  REMARK    GeneRIF: Essential requirement for IER3IP1 in B cell development.
REFERENCE   2  (bases 1 to 3679)
  AUTHORS   Esk,C., Lindenhofer,D., Haendeler,S., Wester,R.A., Pflug,F.,
            Schroeder,B., Bagley,J.A., Elling,U., Zuber,J., von Haeseler,A. and
            Knoblich,J.A.
  TITLE     A human tissue screen identifies a regulator of ER secretion as a
            brain-size determinant
  JOURNAL   Science 370 (6519), 935-941 (2020)
   PUBMED   33122427
  REMARK    GeneRIF: A human tissue screen identifies a regulator of ER
            secretion as a brain-size determinant.
REFERENCE   3  (bases 1 to 3679)
  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   4  (bases 1 to 3679)
  AUTHORS   Valenzuela,I., Boronat,S., Martinez-Saez,E., Clemente,M.,
            Sanchez-Montanez,A., Munell,F., Carrascosa,A. and Macaya,A.
  TITLE     Microcephaly with simplified gyral pattern, epilepsy and permanent
            neonatal diabetes syndrome (MEDS). A new patient and review of the
            literature
  JOURNAL   Eur J Med Genet 60 (10), 517-520 (2017)
   PUBMED   28711742
  REMARK    GeneRIF: 233 T > C mutation in the IER3IP1 causes microcephaly with
            simplified gyral pattern, epilepsy and permanent neonatal diabetes
            syndrome.
            Review article
REFERENCE   5  (bases 1 to 3679)
  AUTHORS   Poulton,C.J., Schot,R., Kia,S.K., Jones,M., Verheijen,F.W.,
            Venselaar,H., de Wit,M.C., de Graaff,E., Bertoli-Avella,A.M. and
            Mancini,G.M.
  TITLE     Microcephaly with simplified gyration, epilepsy, and infantile
            diabetes linked to inappropriate apoptosis of neural progenitors
  JOURNAL   Am J Hum Genet 89 (2), 265-276 (2011)
   PUBMED   21835305
REFERENCE   6  (bases 1 to 3679)
  AUTHORS   Ghosh,D., Lippert,D., Krokhin,O., Cortens,J.P. and Wilkins,J.A.
  TITLE     Defining the membrane proteome of NK cells
  JOURNAL   J Mass Spectrom 45 (1), 1-25 (2010)
   PUBMED   19946888
REFERENCE   7  (bases 1 to 3679)
  AUTHORS   Yiu,W.H., Yeung,T.L., Poon,J.W., Tsui,S.K., Fung,K.P. and Waye,M.M.
  TITLE     Transcriptional regulation of IER3IP1 gene by tumor necrosis
            factor-alpha and Sp family proteins
  JOURNAL   Cell Biochem Funct 28 (1), 31-37 (2010)
   PUBMED   19885854
  REMARK    GeneRIF: IER3IP1 gene expression is regulated by Sp1, Sp3, and the
            TNF-a; induction of the gene in HepG2 liver cancer cell line
REFERENCE   8  (bases 1 to 3679)
  AUTHORS   Lei,Y., Zhang,Y. and Wang,Y.Q.
  TITLE     [Effect of IER3IP1 gene expression on the proliferation and
            erythroid differentiation of K562 cells]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 30 (6), 409-413 (2009)
   PUBMED   19951536
  REMARK    GeneRIF: Inhibiting the expression of IER3IP1 can inhibit erythroid
            differentiation and elevate the proliferation of K562 cells.
REFERENCE   9  (bases 1 to 3679)
  AUTHORS   Wang,W.J., Zhang,Y. and Huang,F.X.
  TITLE     [The expression of IER3IP1 gene in K562 cells treated by matrine
            and its effect on the cell growth]
  JOURNAL   Zhonghua Xue Ye Xue Za Zhi 28 (12), 823-827 (2007)
   PUBMED   18476594
  REMARK    GeneRIF: Matrine can inhibit the growth of K562 cells, and
            transiently increase the expression level of IER3IP1 gene in a
            dose-dependent manner.
REFERENCE   10 (bases 1 to 3679)
  AUTHORS   Yiu,W.H., Poon,J.W., Tsui,S.K., Fung,K.P. and Waye,M.M.
  TITLE     Cloning and characterization of a novel endoplasmic reticulum
            localized G-patch domain protein, IER3IP1
  JOURNAL   Gene 337, 37-44 (2004)
   PUBMED   15276200
  REMARK    GeneRIF: IER3IP1 gene was mapped to chromosome 18q12 and showed a
            high expression in heart, skeletal muscle and kidney, a moderate
            expression in liver and brain and a low expression in placenta,
            lung and peripheral blood leukocyte.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BM829309.1, AF164798.1,
            AA211693.1 and AC051635.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_016097.4.
            
            Summary: This gene encodes a small protein that is localized to the
            endoplasmic reticulum (ER) and may play a role in the ER stress
            response by mediating cell differentiation and apoptosis.
            Transcription of this gene is regulated by tumor necrosis factor
            alpha and specificity protein 1 (Sp1). Mutations in this gene may
            play a role in microcephaly, epilepsy, and diabetes syndrome
            (MEDS), and a pseudogene of this gene is located on the long arm of
            chromosome 12. [provided by RefSeq, Dec 2011].
            
            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 :: AK027108.1, SRR1803617.7722.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2159080, SAMEA2467146
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000256433.6/ ENSP00000256433.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                BM829309.1         11-31
            22-1471             AF164798.1         1-1450
            1472-1494           AA211693.1         1-23                c
            1495-3679           AC051635.7         125701-127885
FEATURES             Location/Qualifiers
     source          1..3679
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q21.1"
     gene            1..3679
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /note="immediate early response 3 interacting protein 1"
                     /db_xref="GeneID:51124"
                     /db_xref="HGNC:HGNC:18550"
                     /db_xref="MIM:609382"
     exon            1..178
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..336
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /codon_start=1
                     /product="immediate early response 3-interacting protein
                     1"
                     /protein_id="NP_057181.1"
                     /db_xref="CCDS:CCDS11933.1"
                     /db_xref="GeneID:51124"
                     /db_xref="HGNC:HGNC:18550"
                     /db_xref="MIM:609382"
                     /translation="MAFTLYSLLQAALLCVNAIAVLHEERFLKNIGWGTDQGIGGFGE
                     EPGIKSQLMNLIRSVRTVMRVPLIIVNSIAIVLLLLFG"
     exon            179..280
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /inference="alignment:Splign:2.1.0"
     exon            281..3679
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /inference="alignment:Splign:2.1.0"
     regulatory      461..466
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /note="hexamer: AATAAA"
     polyA_site      483
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /note="major polyA site"
     regulatory      1448..1453
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /note="hexamer: AATAAA"
     polyA_site      1471
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /note="major polyA site"
     regulatory      3495..3500
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /note="hexamer: AATAAA"
     polyA_site      3515
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
     regulatory      3655..3660
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
                     /note="hexamer: AGTAAA"
     polyA_site      3679
                     /gene="IER3IP1"
                     /gene_synonym="HSPC039; MEDS; PRO2309"
ORIGIN      
        1 gtaggaaggc gccggccgtg gaggcgccac gtcccttgcg gcggcgggag agaaatcgct
       61 tggacttcgg ggcggcctcg gacggccatg gcctttaccc tgtactcact gctgcaggca
      121 gccctgctct gcgtcaacgc catcgcagtg ctgcacgagg agcgattcct caagaacatt
      181 ggctggggaa cagaccaggg aattggtgga tttggagaag agccgggaat taaatcacag
      241 ctaatgaacc ttattcgatc tgtaagaacc gtgatgagag tgccattgat aatagtaaac
      301 tcaattgcaa ttgtgttact tttattattt ggatgaatat cagtggagaa aatggagact
      361 cagaagagga catgccagta gaagttatta ctttggtcat tattggaata tttatatctt
      421 agctggctga ccttgcactt gtcaaaaatg taaagctgaa aataaaacca gggtttctat
      481 ttatctgttt ttttttttaa tgttgcactt gtagtttcat tacaaaagat cagatcatga
      541 aaggcagtaa ctctccagga ctggaatatc tgattgctca gtgttaatag tagttcatgc
      601 tgtggtgaga ttgttaaaag ggtgcaagac tgttgcttct ctttttttag atatttttct
      661 atctctcact tctcagggat gaaattcttt ttcaaagttt tgaagttcct tgcaacttag
      721 ccatgatgtg agtggttatc cctagataaa attaaaagga tttttaaaaa gtaattactg
      781 cacataaaat gataaatagg taatttgaat aattttattt taagctcctt ggttaattat
      841 tttgtctatt gtctcagcta taaattcaaa tttatacata ctattgagta ttaatattct
      901 ctgatttcag ggagaattct gtcagtcaca tgatgattat gtttttgttt aacattcttt
      961 ccatgcactt gttattttat taatttgcct gaatgatgag accagaccag tgtctacaga
     1021 ttttcattgt cagaaaaatc tataagtctg ccctttttac aatgatgatt taaaaaaaac
     1081 aacagcgtaa atattagccc acaagagcag tcctaaacaa tcacaattac actgtactac
     1141 ccaagaagac tgtttattgt gaagcattta cctttcaaaa aatcattaca tttctatttc
     1201 ttggtggagc agcacattgt ggagtgtgat tcttaattct tcattgagtt tgtcaatagg
     1261 acattgatgc tggataggtt gtcttttgtt tttatgtctc agaccatctt gtgagattgt
     1321 ttgcctatct cataatacag ttttatgcag aaaggttgaa actatgtaaa tggtttttat
     1381 ggaaattatc agttacaata ttttaaaggt gtagaatggc atctttgttt ataggagaac
     1441 atttgtaaat aaagttaaat ttctaagtca agcacttgtt tttgtacctt agtataaacc
     1501 tgtcagtgtt aactgcatta atctccattt tgggtgaaca cctcttatta tatgttcttt
     1561 gctgtaaaat tgccgagtat agagttaatg aaagtaaata tttacatgta tttttttttc
     1621 ttcagtgaat taactgaatt gctgacatac atccagaaga ctcatgagca ccttttattt
     1681 catgacttca gttacttcta aaactatgga gcaggtatta agtacctttt ggcctttcct
     1741 aagttagaga tcagtgatct ttggactata ggcttgcagc tagtccaagg aaagtaccaa
     1801 ggattcttag ttgattactt ggctcatgtg aatgactaat ttggtactta gaggccgtgt
     1861 tcttttagcc ttacaaagaa ctgatgcctg agttcaagtt tgagctactg aaaagattca
     1921 aaagaagcag ttacttgagg gcaggcccat ttccccatat ggtatgagca gtacaaaatt
     1981 ttttaaaatg aaagaaaaga gagaccttga tctgatgtta tttttcatat aagacattac
     2041 agcatacctt catcttaatt cagtgttggg attttgtcca aatattccat cagggagcag
     2101 tcacagaagg gccaggatca aagtattctg tagccaagta gttctgagga aagtgaagca
     2161 ctgaactgaa catcaaaata tgtcatatct ggaggccact tcataattcc agtttgtggc
     2221 tgaagagggg tctgtaagct ttcactggtc agccctggtt tccccagagc agttgtgatt
     2281 cagtaaacag agtgtgttat tttagtagac agtaacttaa gtgcctgttg gcctgcccat
     2341 gtcctcccct ttatctatta ccaggattaa caatttgtga tgattctgga ctccaaatac
     2401 cgatgatgtt tatagtcctt atgtattctg gccctgtgtt tgcatgtctc tgaactgtgc
     2461 gaaggttctt ggctctagtc tgtagatatt aaccaaattc atcgctaatc aagtacagtg
     2521 gttttcaaac ttttatagtt aacagcagaa ccagattttc aaaggaattc tgacacagaa
     2581 ctgtaacatt cccgtatcta aaccagatga gagtaggtcc atttatttgt ttttagttga
     2641 agtagagctg ggattcaaag gctcactatt cagcctccac tgcactcttg tcaggcttcc
     2701 caaggcattt ccataaaacc ctaaattttc aaaaatatag ctaaaaagta tcttataaaa
     2761 atccctgctt tagccataaa aaagaattag ataatacctt ctgtgggaac atggatggag
     2821 ctggaagcca tcatccttaa caaactaatg taggaacaga aaaccaaata ccacatgtta
     2881 ttacttataa gtgggagcta aatgataaga cctcatggac ataaggaggg ggacaacaga
     2941 cactgggggc tatttgaggg tggagggtga gaaagagtgc cagaaaaatt actgggtact
     3001 aggcttagca cctggataac gaaataatct gtgccaaacc cccgtgacac aagtttacct
     3061 atttaacaaa tgtactgtac ccctaaaagt taaaaaagta aaaatataaa aaaataaaat
     3121 ccctgcttta gggagggtgg gagggggtga gggaaacaga aactacatac tgagtacaat
     3181 gtacagtagt ccagtgatgg gtgcactaaa atttcagact ttacaccact atacaattca
     3241 tccatgtaac cagaaaccac ttgtacccct aaagctattg aaataaaaag ctaaatgagt
     3301 tcccccacct tcctctcccc atcaaaatcc ttgctttaga tacaataaga gtaggcaatc
     3361 tgtgttctat atgtgttaga tgtgtattac tggtgaaatg acaagagaaa gcaagatatt
     3421 tgactagtaa aaagactagg aggcaagata tttctaatat atcaagcaaa ccttttacca
     3481 tgtgactgaa agcaaataaa cttcctaaga cctcagtagt ttttggttgt cctatctgta
     3541 aaattggtca ataaccttca gaacagaagt ctggtccaga tatatatata tatcttttcc
     3601 agatcactaa tgtttgtatc tagatgtgct tcaaccaaag agatgttctc cttaagtaaa
     3661 atgtttctta tgaagcaaa
//
