LOCUS       NM_014044               1133 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens unc-50 inner nuclear membrane RNA binding protein
            (UNC50), transcript variant 3, mRNA.
ACCESSION   NM_014044
VERSION     NM_014044.7
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 1133)
  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   2  (bases 1 to 1133)
  AUTHORS   Abiusi,E., D'Alessandro,M., Dieterich,K., Quevarec,L.,
            Turczynski,S., Valfort,A.C., Mezin,P., Jouk,P.S., Gut,M., Gut,I.,
            Bessereau,J.L. and Melki,J.
  TITLE     Biallelic mutation of UNC50, encoding a protein involved in AChR
            trafficking, is responsible for arthrogryposis
  JOURNAL   Hum Mol Genet 26 (20), 3989-3994 (2017)
   PUBMED   29016857
  REMARK    GeneRIF: Data indicate that biallelic mutation in the UNC50 gene
            underlies AMC through a probable loss of AChR expression at the
            neuromuscular junction which is essential for the cholinergic
            transmission during human muscle development.
REFERENCE   3  (bases 1 to 1133)
  AUTHORS   Selyunin,A.S., Iles,L.R., Bartholomeusz,G. and Mukhopadhyay,S.
  TITLE     Genome-wide siRNA screen identifies UNC50 as a regulator of Shiga
            toxin 2 trafficking
  JOURNAL   J Cell Biol 216 (10), 3249-3262 (2017)
   PUBMED   28883040
  REMARK    GeneRIF: depletion of UNC50 blocked early endosome-to-Golgi
            trafficking and induced lysosomal degradation of STx2. UNC50 acted
            by recruiting GBF1, an ADP ribosylation factor-guanine nucleotide
            exchange factor (ARF-GEF), to the Golgi.
REFERENCE   4  (bases 1 to 1133)
  AUTHORS   Fang,Z., Zhou,L., Jiang,S., Cao,L. and Yu,L.
  TITLE     UNC50 prompts G1/S transition and proliferation in HCC by
            regulation of epidermal growth factor receptor trafficking
  JOURNAL   PLoS One 10 (3), e0119338 (2015)
   PUBMED   25738771
  REMARK    GeneRIF: UNC50 may plays some roles in HCC progression by affecting
            the EGFR pathway
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1133)
  AUTHORS   Kim,H.J., Choi,Y.S., Jeong,M.J., Kim,B.O., Lim,S.H., Kim,D.K.,
            Kim,C.K. and Park,J.C.
  TITLE     Expression of UNCL during development of periodontal tissue and
            response of periodontal ligament fibroblasts to mechanical stress
            in vivo and in vitro
  JOURNAL   Cell Tissue Res 327 (1), 25-31 (2007)
   PUBMED   17004066
  REMARK    GeneRIF: UNCL plays important roles in the development,
            differentiation, and maintenance of periodontal tissues and in the
            mechanotransduction of periodontal ligament fibroblasts.
REFERENCE   6  (bases 1 to 1133)
  AUTHORS   Fitzgerald,J., Kennedy,D., Viseshakul,N., Cohen,B.N., Mattick,J.,
            Bateman,J.F. and Forsayeth,J.R.
  TITLE     UNCL, the mammalian homologue of UNC-50, is an inner nuclear
            membrane RNA-binding protein
  JOURNAL   Brain Res 877 (1), 110-123 (2000)
   PUBMED   10980252
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BC091481.1 and AK222599.1.
            
            On Feb 27, 2020 this sequence version replaced NM_014044.6.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC091481.1, AK222599.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000357765.7/ ENSP00000350409.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-630               BC091481.1         1-630
            631-1133            AK222599.1         607-1109
FEATURES             Location/Qualifiers
     source          1..1133
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..1133
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /note="unc-50 inner nuclear membrane RNA binding protein"
                     /db_xref="GeneID:25972"
                     /db_xref="HGNC:HGNC:16046"
                     /db_xref="MIM:617826"
     exon            1..138
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /inference="alignment:Splign:2.1.0"
     exon            139..422
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..922
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /note="isoform 3 is encoded by transcript variant 3;
                     unc-50 related; geal-6 membrane-associated high-copy
                     suppressor 1; protein unc-50 homolog; protein GMH1
                     homolog; uncoordinated-like protein; periodontal
                     ligament-specific protein 22; unc-50-like protein"
                     /codon_start=1
                     /product="protein unc-50 homolog isoform 3"
                     /protein_id="NP_054763.2"
                     /db_xref="CCDS:CCDS2035.1"
                     /db_xref="GeneID:25972"
                     /db_xref="HGNC:HGNC:16046"
                     /db_xref="MIM:617826"
                     /translation="MLPSTSVNSLVQGNGVLNSRDAARHTAGAKRYKYLRRLFRFRQM
                     DFEFAAWQMLYLFTSPQRVYRNFHYRKQTKDQWARDDPAFLVLLSIWLCVSTIGFGFV
                     LDMGFFETIKLLLWVVLIDCVGVGLLIATLMWFISNKYLVKRQSRDYDVEWGYAFDVH
                     LNAFYPLLVILHFIQLFFINHVILTDTFIGYLVGNTLWLVAVGYYIYVTFLGYSALPF
                     LKNTVILLYPFAPLILLYGLSLALGWNFTHTLCSFYKYRVK"
     exon            423..543
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /inference="alignment:Splign:2.1.0"
     exon            544..683
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /inference="alignment:Splign:2.1.0"
     exon            684..785
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /inference="alignment:Splign:2.1.0"
     exon            786..1133
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1112..1117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /note="hexamer: AATAAA"
     polyA_site      1133
                     /gene="UNC50"
                     /gene_synonym="GMH1; HSD23; PDLs22; UNCL; URP"
                     /note="major polyA site"
ORIGIN      
        1 ggttcccgtg acgcggcgcg ccccaagggc cggctccgtt gagggaaggg aagcccgccc
       61 ggtggcggct ggggtcggct gctgggagga ggtggtgggc tggttcggac gtgggtcgag
      121 gctgtagcag gactccagga agatgttacc gagtacttca gtgaattcct tagtgcaggg
      181 gaacggagtc ttgaattcca gggatgcggc aagacacaca gccggagcga aacgctacaa
      241 atatctgaga aggcttttcc gctttcggca aatggacttt gaatttgctg cctggcagat
      301 gctctacctg ttcacatccc cacagagagt ttacagaaat tttcattatc gaaaacagac
      361 gaaggaccag tgggccagag atgaccctgc tttcttggtc ctgttaagta tctggctctg
      421 tgtgtccact ataggatttg gctttgtgct ggacatggga ttctttgaga caataaagct
      481 tctcctttgg gttgtactca tagattgtgt aggcgttggt cttctgatag caactttaat
      541 gtggttcatc tctaacaagt atttagtgaa acgacagagc agagactatg atgtggaatg
      601 gggctatgct tttgatgtgc atctcaatgc tttttatcca ctcctggtca ttttgcattt
      661 tatccagctt tttttcatca accatgttat cctgacagac acatttattg gatatttagt
      721 tggaaatacc ttatggttgg ttgcagttgg ctattatatc tatgtaactt tcctgggata
      781 cagtgcattg ccatttttga aaaatacagt aattcttctg tatccatttg cacctctgat
      841 tctgctctac gggctttccc tggcactggg atggaacttc acccatactc tctgttcttt
      901 ctataagtac agagtgaaat aaaaagtgag aagaagattc aatcgtaact gtgtcaacag
      961 tattgtgaag tgatcatttc ttgtaaaact tgtaaataaa ctatcatctt tgtagatatc
     1021 ttaaaggtgt aaagtttgca aatttgaaga aatatatatt aacactgtgg tcaggtacat
     1081 tccttaaaac taattaaatg tacatttcta taataaatat tttttaaact aaa
//
