LOCUS       NM_005268               1355 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens gap junction protein beta 5 (GJB5), mRNA.
ACCESSION   NM_005268
VERSION     NM_005268.4
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 1355)
  AUTHORS   Leighton,S.E., Wong,R.S., Lucaciu,S.A., Hauser,A., Johnston,D.,
            Stathopulos,P.B., Bai,D., Penuela,S. and Laird,D.W.
  TITLE     Cx31.1 can selectively intermix with co-expressed connexins to
            facilitate its assembly into gap junctions
  JOURNAL   J Cell Sci 137 (7) (2024)
   PUBMED   38533727
  REMARK    GeneRIF: Cx31.1 can selectively intermix with co-expressed
            connexins to facilitate its assembly into gap junctions.
REFERENCE   2  (bases 1 to 1355)
  AUTHORS   Scatolini,M., Patel,A., Grosso,E., Mello-Grand,M., Ostano,P.,
            Coppo,R., Vitiello,M., Venesio,T., Zaccagna,A., Pisacane,A.,
            Sarotto,I., Taverna,D., Poliseno,L., Bergamaschi,D. and Chiorino,G.
  TITLE     GJB5 association with BRAF mutation and survival in cutaneous
            malignant melanoma
  JOURNAL   Br J Dermatol 186 (1), 117-128 (2022)
   PUBMED   34240406
  REMARK    GeneRIF: GJB5 association with BRAF mutation and survival in
            cutaneous malignant melanoma.
REFERENCE   3  (bases 1 to 1355)
  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 1355)
  AUTHORS   Zhu,X., Ruan,Z., Yang,X., Chu,K., Wu,H., Li,Y. and Huang,Y.
  TITLE     Connexin 31.1 degradation requires the Clathrin-mediated autophagy
            in NSCLC cell H1299
  JOURNAL   J Cell Mol Med 19 (1), 257-264 (2015)
   PUBMED   25388970
  REMARK    GeneRIF: autophagy contributed to Cx31.1 degradation, and clathrin
            might be involved in the autophagy of Cx31.1.
REFERENCE   5  (bases 1 to 1355)
  AUTHORS   Zhang,D., Chen,C., Li,Y., Fu,X., Xie,Y., Li,Y. and Huang,Y.
  TITLE     Cx31.1 acts as a tumour suppressor in non-small cell lung cancer
            (NSCLC) cell lines through inhibition of cell proliferation and
            metastasis
  JOURNAL   J Cell Mol Med 16 (5), 1047-1059 (2012)
   PUBMED   21777377
  REMARK    GeneRIF: Overexpression of Cx31.1 in H1299 cells reduced cell
            proliferation, delayed the G1 phase, inhibited
            anchorage-independent growth, and suppressed cell migration and
            invasion. Xenografts of Cx31.1 overexpressing H1299 cells had
            reduced tumourigenicity.
REFERENCE   6  (bases 1 to 1355)
  AUTHORS   Alexandrino,F., de Oliveira,C.A., Magalhaes,R.F., Florence,M.E., de
            Souza,E.M. and Sartorato,E.L.
  TITLE     Connexin mutations in Brazilian patients with skin disorders with
            or without hearing loss
  JOURNAL   Am J Med Genet A 149A (4), 681-684 (2009)
   PUBMED   19283857
REFERENCE   7  (bases 1 to 1355)
  AUTHORS   Broghammer,M., Leistenschneider,P., Baus-Loncar,M., Blin,N.,
            Sasiadek,M.M. and Pusch,C.M.
  TITLE     Reduced expression of connexin 31.1 in larynx cancer is not caused
            by GJB5 mutations
  JOURNAL   Cancer Lett 214 (2), 225-229 (2004)
   PUBMED   15363549
REFERENCE   8  (bases 1 to 1355)
  AUTHORS   Xia,J., Zheng,D., Tang,D., Dai,H., Pan,Q., Long,Z. and Liao,X.
  TITLE     Cloning, mapping and mutation analysis of human geneGJB5 encoding
            gap junction protein beta-5
  JOURNAL   Sci China C Life Sci 44 (1), 92-98 (2001)
   PUBMED   18763093
REFERENCE   9  (bases 1 to 1355)
  AUTHORS   Richard,G., Smith,L.E., Bailey,R.A., Itin,P., Hohl,D., Epstein,E.H.
            Jr., DiGiovanna,J.J., Compton,J.G. and Bale,S.J.
  TITLE     Mutations in the human connexin gene GJB3 cause erythrokeratodermia
            variabilis
  JOURNAL   Nat Genet 20 (4), 366-369 (1998)
   PUBMED   9843209
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK129509.1, BC004379.1 and
            AA877961.1.
            
            On Nov 22, 2018 this sequence version replaced NM_005268.3.
            
            Summary: This gene encodes a member of the beta-type (group I)
            connexin family. The encoded protein is a gap junction protein
            involved in intercellular communication related to epidermal
            differentiation and environmental sensing. This gene has been
            linked to non-small cell lung cancer. [provided by RefSeq, Nov
            2012].
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK129509.1, SRR3476690.4307.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000338513.1/ ENSP00000340811.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                AK129509.1         1-81
            82-1354             BC004379.1         9-1281
            1355-1355           AA877961.1         22-22               c
FEATURES             Location/Qualifiers
     source          1..1355
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..1355
                     /gene="GJB5"
                     /gene_synonym="CX31.1"
                     /note="gap junction protein beta 5"
                     /db_xref="GeneID:2709"
                     /db_xref="HGNC:HGNC:4287"
                     /db_xref="MIM:604493"
     exon            1..149
                     /gene="GJB5"
                     /gene_synonym="CX31.1"
                     /inference="alignment:Splign:2.1.0"
     exon            150..1355
                     /gene="GJB5"
                     /gene_synonym="CX31.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..995
                     /gene="GJB5"
                     /gene_synonym="CX31.1"
                     /note="gap junction protein, beta 5 (connexin 31.1); gap
                     junction protein, beta 5, 31.1kDa; gap junctional protein
                     cx31.1"
                     /codon_start=1
                     /product="gap junction beta-5 protein"
                     /protein_id="NP_005259.1"
                     /db_xref="CCDS:CCDS382.1"
                     /db_xref="GeneID:2709"
                     /db_xref="HGNC:HGNC:4287"
                     /db_xref="MIM:604493"
                     /translation="MNWSIFEGLLSGVNKYSTAFGRIWLSLVFIFRVLVYLVTAERVW
                     SDDHKDFDCNTRQPGCSNVCFDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREVQE
                     KRHREAHGENSGRLYLNPGKKRGGLWWTYVCSLVFKASVDIAFLYVFHSFYPKYILPP
                     VVKCHADPCPNIVDCFISKPSEKNIFTLFMVATAAICILLNLVELIYLVSKRCHECLA
                     ARKAQAMCTGHHPHGTTSSCKQDDLLSGDLIFLGSDSHPPLLPDRPRDHVKKTIL"
     regulatory      1331..1336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJB5"
                     /gene_synonym="CX31.1"
                     /note="hexamer: AATAAA"
     polyA_site      1355
                     /gene="GJB5"
                     /gene_synonym="CX31.1"
                     /note="major polyA site"
ORIGIN      
        1 agcacacccg gcaggctctg tcctggaaac aggcttcaac gggcttcccc gaaaaccttc
       61 cccgcttctg gatatgaaat tcaagctgct tgctgagtcc tattgccggc tgctgggagc
      121 caggagagcc ctgaggagta gtcactcagt agcagctgac gcgtgggtcc accatgaact
      181 ggagtatctt tgagggactc ctgagtgggg tcaacaagta ctccacagcc tttgggcgca
      241 tctggctgtc tctggtcttc atcttccgcg tgctggtgta cctggtgacg gccgagcgtg
      301 tgtggagtga tgaccacaag gacttcgact gcaatactcg ccagcccggc tgctccaacg
      361 tctgctttga tgagttcttc cctgtgtccc atgtgcgcct ctgggccctg cagcttatcc
      421 tggtgacatg cccctcactg ctcgtggtca tgcacgtggc ctaccgggag gttcaggaga
      481 agaggcaccg agaagcccat ggggagaaca gtgggcgcct ctacctgaac cccggcaaga
      541 agcggggtgg gctctggtgg acatatgtct gcagcctagt gttcaaggcg agcgtggaca
      601 tcgcctttct ctatgtgttc cactcattct accccaaata tatcctccct cctgtggtca
      661 agtgccacgc agatccatgt cccaatatag tggactgctt catctccaag ccctcagaga
      721 agaacatttt caccctcttc atggtggcca cagctgccat ctgcatcctg ctcaacctcg
      781 tggagctcat ctacctggtg agcaagagat gccacgagtg cctggcagca aggaaagctc
      841 aagccatgtg cacaggtcat cacccccacg gtaccacctc ttcctgcaaa caagacgacc
      901 tcctttcggg tgacctcatc tttctgggct cagacagtca tcctcctctc ttaccagacc
      961 gcccccgaga ccatgtgaag aaaaccatct tgtgaggggc tgcctggact ggtctggcag
     1021 gttgggcctg gatggggagg ctctagcatc tctcataggt gcaacctgag agtgggggag
     1081 ctaagccatg aggtaggggc aggcaagaga gaggattcag acgctctggg agccagttcc
     1141 tagtcctcaa ctccagccac ctgccccagc tcgacggcac tgggccagtt ccccctctgc
     1201 tctgcagctc ggtttccttt tctagaatgg aaatagtgag ggccaatgcc cagggttgga
     1261 gggaggaggg cgttcataga agaacacaca tgcgggcacc ttcatcgtgt gtggcccact
     1321 gtcagaactt aataaaagtc aactcatttg ctggt
//
