LOCUS       NM_032492               1637 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens jagunal homolog 1 (JAGN1), transcript variant 1, mRNA.
ACCESSION   NM_032492
VERSION     NM_032492.4
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 1637)
  AUTHORS   Hojabri,M., Farsi,Y., Jamee,M., Abolhassani,H., Khani,H.H.K.,
            Karimi,A., Mesdaghi,M., Chavoshzadeh,Z. and Sharafian,S.
  TITLE     JAGN1 mutation with distinct clinical features; two case reports
            and literature review
  JOURNAL   BMC Pediatr 23 (1), 206 (2023)
   PUBMED   37120535
  REMARK    GeneRIF: JAGN1 mutation with distinct clinical features; two case
            reports and literature review.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1637)
  AUTHORS   Hagelkruys,A., Wirnsberger,G., Stadlmann,J., Wohner,M., Horrer,M.,
            Vilagos,B., Jonsson,G., Kogler,M., Tortola,L., Novatchkova,M.,
            Bonelt,P., Hoffmann,D., Koglgruber,R., Steffen,U., Schett,G.,
            Busslinger,M., Bergthaler,A., Klein,C. and Penninger,J.M.
  TITLE     A crucial role for Jagunal homolog 1 in humoral immunity and
            antibody glycosylation in mice and humans
  JOURNAL   J Exp Med 218 (1) (2021)
   PUBMED   32930709
  REMARK    GeneRIF: A crucial role for Jagunal homolog 1 in humoral immunity
            and antibody glycosylation in mice and humans.
REFERENCE   3  (bases 1 to 1637)
  AUTHORS   Khandagale,A., Holmlund,T., Entesarian,M., Nilsson,D., Kalwak,K.,
            Klaudel-Dreszler,M., Carlsson,G., Henter,J.I., Nordenskjold,M. and
            Fadeel,B.
  TITLE     Severe congenital neutropenia-associated JAGN1 mutations unleash a
            calpain-dependent cell death programme in myeloid cells
  JOURNAL   Br J Haematol 192 (1), 200-211 (2021)
   PUBMED   33206996
  REMARK    GeneRIF: Severe congenital neutropenia-associated JAGN1 mutations
            unleash a calpain-dependent cell death programme in myeloid cells.
REFERENCE   4  (bases 1 to 1637)
  AUTHORS   VanWinkle,P.E., Parish,F., Edwards,Y.J.K. and Sztul,E.
  TITLE     JAGN1, tetraspanins, and Erv proteins: is common topology
            indicative of common function in cargo sorting?
  JOURNAL   Am J Physiol Cell Physiol 319 (4), C667-C674 (2020)
   PUBMED   32783652
  REMARK    GeneRIF: JAGN1, tetraspanins, and Erv proteins: is common topology
            indicative of common function in cargo sorting?
            Erratum:[Am J Physiol Cell Physiol. 2021 Aug 1;321(2):C413. doi:
            10.1152/ajpcell.00436.2019_COR.. PMID: 34369817]
REFERENCE   5  (bases 1 to 1637)
  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   6  (bases 1 to 1637)
  AUTHORS   Chinen,J., Notarangelo,L.D. and Shearer,W.T.
  TITLE     Advances in basic and clinical immunology in 2014
  JOURNAL   J Allergy Clin Immunol 135 (5), 1132-1141 (2015)
   PUBMED   25956014
  REMARK    Review article
REFERENCE   7  (bases 1 to 1637)
  AUTHORS   Baris,S., Karakoc-Aydiner,E., Ozen,A., Delil,K., Kiykim,A.,
            Ogulur,I., Baris,I. and Barlan,I.B.
  TITLE     JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the
            Same Family
  JOURNAL   J Clin Immunol 35 (4), 339-343 (2015)
   PUBMED   25851723
REFERENCE   8  (bases 1 to 1637)
  AUTHORS   Wirnsberger,G., Zwolanek,F., Stadlmann,J., Tortola,L., Liu,S.W.,
            Perlot,T., Jarvinen,P., Durnberger,G., Kozieradzki,I., Sarao,R., De
            Martino,A., Boztug,K., Mechtler,K., Kuchler,K., Klein,C., Elling,U.
            and Penninger,J.M.
  TITLE     Jagunal homolog 1 is a critical regulator of neutrophil function in
            fungal host defense
  JOURNAL   Nat Genet 46 (9), 1028-1033 (2014)
   PUBMED   25129145
  REMARK    GeneRIF: Data directly identify Jagn1 (JAGN1 in humans) as a new
            regulator of neutrophil function in microbial pathogenesis.
REFERENCE   9  (bases 1 to 1637)
  AUTHORS   Boztug,K., Jarvinen,P.M., Salzer,E., Racek,T., Monch,S.,
            Garncarz,W., Gertz,E.M., Schaffer,A.A., Antonopoulos,A.,
            Haslam,S.M., Schieck,L., Puchalka,J., Diestelhorst,J.,
            Appaswamy,G., Lescoeur,B., Giambruno,R., Bigenzahn,J.W., Elling,U.,
            Pfeifer,D., Conde,C.D., Albert,M.H., Welte,K., Brandes,G.,
            Sherkat,R., van der Werff Ten Bosch,J., Rezaei,N., Etzioni,A.,
            Bellanne-Chantelot,C., Superti-Furga,G., Penninger,J.M.,
            Bennett,K.L., von Blume,J., Dell,A., Donadieu,J. and Klein,C.
  TITLE     JAGN1 deficiency causes aberrant myeloid cell homeostasis and
            congenital neutropenia
  JOURNAL   Nat Genet 46 (9), 1021-1027 (2014)
   PUBMED   25129144
  REMARK    GeneRIF: JAGN1 participates in the secretory pathway and is
            required for granulocyte colony-stimulating factor
            receptor-mediated signaling. JAGN1 emerges as a factor that is
            necessary in the differentiation and survival of neutrophils.
REFERENCE   10 (bases 1 to 1637)
  AUTHORS   Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A.,
            Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D.,
            White,O. et al.
  TITLE     Initial assessment of human gene diversity and expression patterns
            based upon 83 million nucleotides of cDNA sequence
  JOURNAL   Nature 377 (6547 Suppl), 3-174 (1995)
   PUBMED   7566098
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP262753.1, BC008507.1 and
            BU674942.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 30, 2018 this sequence version replaced NM_032492.3.
            
            Summary: The protein encoded by this gene is a transmembrane
            protein. It functions in the early secretory pathway and is
            necessary for neutrophil differentiation and survival. Mutations in
            this gene result in severe congenital neutropenia. [provided by
            RefSeq, Oct 2014].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            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 :: SRR3476690.1152274.1, AK074760.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647897.1/ ENSP00000496942.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-541               BP262753.1         39-579
            542-1137            BC008507.1         259-854
            1138-1637           BU674942.1         15-514              c
FEATURES             Location/Qualifiers
     source          1..1637
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p25.3"
     gene            1..1637
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
                     /note="jagunal homolog 1"
                     /db_xref="GeneID:84522"
                     /db_xref="HGNC:HGNC:26926"
                     /db_xref="MIM:616012"
     exon            1..202
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
                     /inference="alignment:Splign:2.1.0"
     CDS             114..665
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
                     /note="isoform a is encoded by transcript variant 1;
                     protein jagunal homolog 1"
                     /codon_start=1
                     /product="protein jagunal homolog 1 isoform a"
                     /protein_id="NP_115881.3"
                     /db_xref="CCDS:CCDS2588.1"
                     /db_xref="GeneID:84522"
                     /db_xref="HGNC:HGNC:26926"
                     /db_xref="MIM:616012"
                     /translation="MASRAGPRAAGTDGSDFQHRERVAMHYQMSVTLKYEIKKLIYVH
                     LVIWLLLVAKMSVGHLRLLSHDQVAMPYQWEYPYLLSILPSLLGLLSFPRNNISYLVL
                     SMISMGLFSIAPLIYGSMEMFPAAQQLYRHGKAYRFLFGFSAVSIMYLVLVLAVQVHA
                     WQLYYSKKLLDSWFTSTQEKKHK"
     exon            203..1637
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1118..1123
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
                     /note="hexamer: AATAAA"
     polyA_site      1139
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
                     /note="major polyA site"
     polyA_site      1175
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
     regulatory      1613..1618
                     /regulatory_class="polyA_signal_sequence"
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
                     /note="hexamer: ACTAAA"
     polyA_site      1637
                     /gene="JAGN1"
                     /gene_synonym="GL009; SCN6"
ORIGIN      
        1 ctcttcacgg agccgcgcgg ctgcgggggc gcaaataggg tcagtgggcc gcttggcggt
       61 gtcgttgcgg taccaggtcc gcgtgagggg ttcgggggtt ctgggcaggc acaatggcgt
      121 ctcgagcagg cccgcgagcg gccggcaccg acggcagcga ctttcagcac cgggagcgcg
      181 tcgccatgca ctaccagatg agtgtgactc tcaagtatga aatcaagaag ctgatctacg
      241 tacatctggt catatggctg ctgctggttg ctaagatgag cgtgggacac ctgaggctct
      301 tgtcacatga tcaggtggcc atgccctatc agtgggaata cccgtatttg ctgagcattt
      361 tgccctctct cttgggcctt ctctcctttc cccgcaacaa cattagctac ctggtgctct
      421 ccatgatcag catgggactc ttttccatcg ctccactcat ttatggcagc atggagatgt
      481 tccctgctgc acagcagctc taccgccatg gcaaggccta ccgtttcctc tttggttttt
      541 ctgccgtttc catcatgtac ctggtgttgg tgttggcagt gcaagtgcat gcctggcagt
      601 tgtactacag caagaagctc ctagactctt ggttcaccag cacacaggag aagaagcata
      661 aatgaagcct ctttggggtg aagcctggac atcccatcga atgaaaggac actagtacag
      721 cggttccaaa atcccttctg gtgattttag cagctgtgat gttggtacct ggtgcagacc
      781 aggccaaagt tctggaaagc tccttttgcc atctgctgag gtggcaaaac tataatttat
      841 tcctggttgg ctagaactgg gtgaccaaca gctatgaaac aaatttcagc tgtttgaagt
      901 tgaactttga ggtttttctt taagaatgag cttcgtcctt gcctctactc ggtcattctc
      961 cccatttcca tccattaccc cttagccatt gagactaaag gaaataggga ataaatcaaa
     1021 ttacttcatc tctaggtcac gggtcaggaa acatttgggc agctgctccc ttggcaggct
     1081 gtggtctcct ctgcaaagca ttttaattaa aaacctcaat aaagatggcc ctgcccacac
     1141 tgtgccttgt gtttggggct tgatagagtg tgaaaggtgt gttgcttgaa aggtgtggcc
     1201 ttagacacta ggagatgatg ggtagaagct ccttgagaaa cctagcagtg gccatagaga
     1261 agtagactgg gtatggggaa cctaagtcat agttgtaacc tacagctgat tggtaagaac
     1321 tatgggccag acatttaatc tctccatcta tgaaatagtc cattctcatt tatctacctt
     1381 aggttatggg ctcttctttt agttggatat tcacatttat ctttcagtgt taactgggta
     1441 tcagttatga gtctactact gtataatggc atccaaaaga attttaaagt acctcggttt
     1501 atagggattt acaattcagt agaaacttgt tattcatgtg aaacagtgaa cataatatct
     1561 aatgatgtgg agcaagtaca ttaaaaacag gaaggaagag atctgtgatt aaactaaagg
     1621 ccctttcaca cctaaaa
//
