LOCUS       NM_014028               4471 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens osteoclastogenesis associated transmembrane protein 1
            (OSTM1), mRNA.
ACCESSION   NM_014028
VERSION     NM_014028.4
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 4471)
  AUTHORS   Vacher,J.
  TITLE     OSTM1 pleiotropic roles from osteopetrosis to neurodegeneration
  JOURNAL   Bone 163, 116505 (2022)
   PUBMED   35902071
  REMARK    GeneRIF: OSTM1 pleiotropic roles from osteopetrosis to
            neurodegeneration.
REFERENCE   2  (bases 1 to 4471)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   3  (bases 1 to 4471)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   4  (bases 1 to 4471)
  AUTHORS   Zhang,S., Liu,Y., Zhang,B., Zhou,J., Li,T., Liu,Z., Li,Y. and
            Yang,M.
  TITLE     Molecular insights into the human CLC-7/Ostm1 transporter
  JOURNAL   Sci Adv 6 (33), eabb4747 (2020)
   PUBMED   32851177
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4471)
  AUTHORS   Schrecker,M., Korobenko,J. and Hite,R.K.
  TITLE     Cryo-EM structure of the lysosomal chloride-proton exchanger CLC-7
            in complex with OSTM1
  JOURNAL   Elife 9, e59555 (2020)
   PUBMED   32749217
  REMARK    GeneRIF: Cryo-EM structure of the lysosomal chloride-proton
            exchanger CLC-7 in complex with OSTM1.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4471)
  AUTHORS   Maranda,B., Chabot,G., Decarie,J.C., Pata,M., Azeddine,B.,
            Moreau,A. and Vacher,J.
  TITLE     Clinical and cellular manifestations of OSTM1-related infantile
            osteopetrosis
  JOURNAL   J Bone Miner Res 23 (2), 296-300 (2008)
   PUBMED   17922613
  REMARK    GeneRIF: A novel mutation affecting the OSTM1 locus responsible for
            ARO. In addition to common clinical features of osteopetrosis, the
            patient developed a unique neuronal pathology that provided
            evidence for the role of OSTM1 in normal neuronal cell development.
REFERENCE   7  (bases 1 to 4471)
  AUTHORS   Castellano Chiodo,D., DiRocco,M., Gandolfo,C., Morana,G., Buzzi,D.
            and Rossi,A.
  TITLE     Neuroimaging findings in malignant infantile osteopetrosis due to
            OSTM1 mutations
  JOURNAL   Neuropediatrics 38 (3), 154-156 (2007)
   PUBMED   17985267
  REMARK    GeneRIF: This study reports on a 12-month-old female with recessive
            OSMT1 mutations and neuroimaging findings suggesting a malignant
            infantile osteopetrosis.
REFERENCE   8  (bases 1 to 4471)
  AUTHORS   Fischer,T., De Vries,L., Meerloo,T. and Farquhar,M.G.
  TITLE     Promotion of G alpha i3 subunit down-regulation by GIPN, a putative
            E3 ubiquitin ligase that interacts with RGS-GAIP
  JOURNAL   Proc Natl Acad Sci U S A 100 (14), 8270-8275 (2003)
   PUBMED   12826607
  REMARK    GeneRIF: The human GIPN gene has 6 exons and 5 introns, and encodes
            a 334-aa protein.
REFERENCE   9  (bases 1 to 4471)
  AUTHORS   Chalhoub,N., Benachenhou,N., Rajapurohitam,V., Pata,M., Ferron,M.,
            Frattini,A., Villa,A. and Vacher,J.
  TITLE     Grey-lethal mutation induces severe malignant autosomal recessive
            osteopetrosis in mouse and human
  JOURNAL   Nat Med 9 (4), 399-406 (2003)
   PUBMED   12627228
  REMARK    GeneRIF: mutation in the human GL gene leads to severe recessive
            osteopetrosis
REFERENCE   10 (bases 1 to 4471)
  AUTHORS   Abrahams,B.S., Mak,G.M., Berry,M.L., Palmquist,D.L., Saionz,J.R.,
            Tay,A., Tan,Y.H., Brenner,S., Simpson,E.M. and Venkatesh,B.
  TITLE     Novel vertebrate genes and putative regulatory elements identified
            at kidney disease and NR2E1/fierce loci
  JOURNAL   Genomics 80 (1), 45-53 (2002)
   PUBMED   12079282
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from Z98200.9, BI668275.1,
            AF533891.1, AJ420489.1, AA428166.1, BQ716123.1, BE218267.1 and
            AV715475.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_014028.3.
            
            Summary: This gene encodes a protein that may be involved in the
            degradation of G proteins via the ubiquitin-dependent proteasome
            pathway. The encoded protein binds to members of subfamily A of the
            regulator of the G-protein signaling (RGS) family through an
            N-terminal leucine-rich region. This protein also has a central
            RING finger-like domain and E3 ubiquitin ligase activity. This
            protein is highly conserved from flies to humans. Defects in this
            gene may cause the autosomal recessive, infantile malignant form of
            osteopetrosis. [provided by RefSeq, Jul 2008].
            
            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 :: SRR14038194.2510513.1,
                                           SRR11853566.24425.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000193322.8/ ENSP00000193322.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 Z98200.9           80308-80311
            5-20                BI668275.1         17-32
            21-3062             AF533891.1         1-3042
            3063-3147           AJ420489.1         1429-1513
            3148-3376           AA428166.1         198-426
            3377-3439           Z98200.9           112546-112608
            3440-3615           BQ716123.1         103-278
            3616-4166           BE218267.1         4-554
            4167-4471           AV715475.1         271-575
FEATURES             Location/Qualifiers
     source          1..4471
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q21"
     gene            1..4471
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /note="osteoclastogenesis associated transmembrane protein
                     1"
                     /db_xref="GeneID:28962"
                     /db_xref="HGNC:HGNC:21652"
                     /db_xref="MIM:607649"
     exon            1..492
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /inference="alignment:Splign:2.1.0"
     CDS             91..1095
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /note="grey-lethal osteopetrosis; GAIP-interacting protein
                     N terminus; chloride channel 7 beta subunit; CLCN7
                     accessory beta subunit; osteopetrosis associated
                     transmembrane protein 1"
                     /codon_start=1
                     /product="osteopetrosis-associated transmembrane protein 1
                     precursor"
                     /protein_id="NP_054747.2"
                     /db_xref="CCDS:CCDS5062.1"
                     /db_xref="GeneID:28962"
                     /db_xref="HGNC:HGNC:21652"
                     /db_xref="MIM:607649"
                     /translation="MEPGPTAAQRRCSLPPWLPLGLLLWSGLALGALPFGSSPHRVFH
                     DLLSEQQLLEVEDLSLSLLQGGGLGPLSLPPDLPDLDPECRELLLDFANSSAELTGCL
                     VRSARPVRLCQTCYPLFQQVVSKMDNISRAAGNTSESQSCARSLLMADRMQIVVILSE
                     FFNTTWQEANCANCLTNNSEELSNSTVYFLNLFNHTLTCFEHNLQGNAHSLLQTKNYS
                     EVCKNCREAYKTLSSLYSEMQKMNELENKAEPGTHLCIDVEDAMNITRKLWSRTFNCS
                     VPCSDTVPVIAVSVFILFLPVVFYLSSFLHSEQKKRKLILPKRLKSSTSFANIQENSN
                     "
     exon            493..607
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            608..705
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            706..873
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1039
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /inference="alignment:Splign:2.1.0"
     exon            1040..4471
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3038..3043
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /note="hexamer: AATAAA"
     polyA_site      3056
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /note="major polyA site"
     regulatory      4385..4390
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /note="hexamer: AATAAA"
     polyA_site      4408
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
     regulatory      4447..4452
                     /regulatory_class="polyA_signal_sequence"
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
                     /note="hexamer: ATTAAA"
     polyA_site      4471
                     /gene="OSTM1"
                     /gene_synonym="GIPN; GL; HSPC019; OPTB5"
ORIGIN      
        1 gctcgcggaa accggaagcg gcggctgtcc gcggtgccgg ctgggggcgg agaggcggcg
       61 gtgggctccc tggggtgtgt gagcccggtg atggagccgg gcccgacagc cgcgcagcgg
      121 aggtgttcgt tgccgccgtg gctgccgctg gggctgctgc tgtggtcggg gctggccctg
      181 ggcgcgctcc ccttcggcag cagtccgcac agggtcttcc acgacctcct gtcggagcag
      241 cagttgctgg aggtggagga cttgtccctg tccctcctgc agggtggagg gctggggcct
      301 ctgtcgctgc ccccggacct gccggatctg gatcctgagt gccgggagct cctgctggac
      361 ttcgccaaca gcagcgcaga gctgacaggg tgtctggtgc gcagcgcccg gcccgtgcgc
      421 ctctgtcaga cctgctaccc cctcttccaa caggtcgtca gcaagatgga caacatcagc
      481 cgagccgcgg ggaatacttc agagagtcag agttgtgcca gaagtctctt aatggcagat
      541 agaatgcaaa tagttgtgat tctctcagaa ttttttaata ccacatggca ggaggcaaat
      601 tgtgcaaatt gtttaacaaa caacagtgaa gaattatcaa acagcacagt atatttcctt
      661 aatctattta atcacaccct gacctgcttt gaacataacc ttcaggggaa tgcacatagt
      721 cttttacaga caaaaaatta ttcagaagta tgcaaaaact gccgtgaagc atacaaaact
      781 ctgagtagtc tgtacagtga aatgcaaaaa atgaatgaac ttgagaataa ggctgaacct
      841 ggaacacatt tatgcattga tgtggaagat gcaatgaaca tcactcgaaa actatggagt
      901 cgaactttca actgttcagt cccttgcagt gacacagtgc ctgtaattgc tgtttctgtg
      961 ttcattctct ttctacctgt tgtcttctac cttagtagct ttcttcactc agagcaaaag
     1021 aaacgcaaac tcattctgcc caaacgtctc aagtccagta ccagttttgc aaatattcag
     1081 gaaaattcaa actgagacct acaaaatgga gaattgacat atcacgtgaa tgaatggtgg
     1141 aagacacaac ttggtttcag aaagaagata aactgtgatt tgacaagtca agctcttaag
     1201 aaatacaagg acttcagatc catttttaaa taagaatttt cgatttttct ttccttttcc
     1261 acttctttct aacagatttg gatattttta atttccaggc atagcaatgt tatctatttt
     1321 aatgtgtatt tgtcacaata acagaacatg caagaacaat cattatttta ttttataggc
     1381 atttgattac tattctagac ttctggtatc ttcttactaa cataaatatc tcaagtagaa
     1441 aagtttttga aaactaacat ttaaaaatta atcagttaca gtaaagactt tgaaaaagaa
     1501 atgtacttgt taggaagtag cttaattacc ccccattgca gtattattgt tatatatata
     1561 gttaatatgt tgtacatcac aataatatat aattcagtct ctagtttccc tagagtcatt
     1621 tttgaaacca ctgattgcaa acctccctga caatttttaa aagtagtaag ccacattaca
     1681 tttatctttg taaaaagatt tatggtaact ggtttcttac ttgactttta taaatagtat
     1741 tttacatctt atttttgcct ttatttcata agtaatttaa aaatcactgg attgctttat
     1801 tatattcagg gcaatatgga ttatttttat accaaggatt tgcatcgtga attacattaa
     1861 gttatttggc aatttataat ttattactac tttaaatcaa atgtagcatt atcacactgt
     1921 atttaaattg tcatttttta aaggaatatt ttcttcttaa gatatataga ggattttgga
     1981 gaagagagac aggaggggta aaaccagctt aaggttcagc gagcagaaag ggacctgaga
     2041 ggatgctcac tgtaagactg ttggacagtg gtgtgtattg aggggatgaa tcggaacgat
     2101 agtctcatgc agaaaatagt gagattaaga tcatccttat tgtttctaaa ttatttcaat
     2161 cagatgaaag tgatacgatt gaaatgaaat cacatagttc gtgctcagaa attctatttt
     2221 ggtatgtttg tattagcctt tagaaaaaac actccgtttc agaattgttc acagttttat
     2281 ttcttaggtt tttagagttc aggatttcat ttattaattt cttcttgctt ttttggtgga
     2341 aataggcttt gttgtaaaca ttaagaatat aaaatctcct ctatatagaa acaagaattt
     2401 tgttaaaaag agaatttgaa tcccttccta tactataaaa tgctctatag ggagacaaag
     2461 tgtttctttt ttcttttatg tttactgttt atgtggagtg aaatataagg ctcttggatg
     2521 tataacatac tcaaaagctg ttacactttc tctgatctgc tgtgatccac tgaaaatgtg
     2581 ctggggtttg ttctgctgtc actgtttatg ctgctggaac ttagcactgt cttgatttga
     2641 agcatatgat tgagagccat ttgaagcaat cttcattaat gcagataaaa caagtttaca
     2701 tgtgcagagt tagaaaatga catgttcaat tctgtaagtg gtgacttttt gagcaccttt
     2761 cagtattatg tatttgtaaa aaccattgtt tttggatata aagctaataa gcactttaaa
     2821 aaggaaaagg cagcctttac tattttttct ggttgagtca ttgctcttta gacctagcat
     2881 cagcaataga tttcaaagat aagtattaag cgctacccta aagtgtgtaa gtttttcatt
     2941 ttgtcatatt gaaaaatgat ttgcatagta ctgaatgttg acacacagct tatatgtatt
     3001 tacaagaata tctttaagtg tttttttgac acattaaaat aaaggaaata aggaaattgt
     3061 aagctttatt tggattttta aatacatttt taaaatttca gatgtaattt aacatcacat
     3121 ttgtttttca ggtattgagt ttagatgcct acttttatga gtaccatcag ctggacacag
     3181 tgtctcatac ctgtatttgc agcactttgg gaggctgaag cagatcgctg gagcttatga
     3241 gttcgagacc agcctggaca acatagtgaa acactgtctc tgcaaaaaat acaaaaatta
     3301 gctgggtatg gtggtaagtg cctgtagtcc tagctacttg ggaggctgag atgggaggat
     3361 gtcttgagcc cgggaggtgg aggttgcaat gagccaagat tgtaccactg cattccaacc
     3421 tgggcgacag agccagacct tgtctcaaaa aaaaaaaaaa aaaaagaaaa aagaaagtac
     3481 tgtctgtctt aaattttgct gcaaataaaa atgtactttg gattatttat tgttgaactt
     3541 gagagataga aataacatca gatatatttt ttcttttttt tttataatta attttttttt
     3601 tttttttttt tgtagagaca gtgtctcact atgttgccca agctggtctt gaactcctga
     3661 gttcaagaga tcctcctgcc ttagcctccc aaagtgctgg gattacaagc ataagcacca
     3721 cacctggctg aacatcagat attttaaagt gtagcccaga gtctagttgg taaatgttac
     3781 ttatattggg actagtattt tctaatgttt ctgggatatg ctccctataa aatgaaatgt
     3841 tttcctggaa caatgctaat taggattgca ttcctggcca aagacatgac atcaaataag
     3901 taatagacat caccagcaat gaattttgaa aagcaaaaaa tactattaac ctatataacc
     3961 atttaaaatt taaaaaatta tgttccaagt acctctattt tctgagctag aagaaacctt
     4021 agaggccatc tgatgataga ttcccagagc tggatggatc cctagggact acctaatctg
     4081 actttctgtc cactgcatgg attcttctaa aaagtatgtc acttatttcc ctaccttatt
     4141 aagactaaat aagtggaaca tcatagagct ctttatttat aacagtcatt ctttgatagt
     4201 caactcttaa atggagactt gagatgctta aatattgtac tactgtgctt atcttgtaaa
     4261 gatttcataa aatgatagta ttggttattt taaaaaggct ttggcttatg ctgaattata
     4321 catgtagcac caaaatgtta caactctact aaatttcctt gttctaaact attatattag
     4381 ctataataaa tattagtcat acatgtaaca tgtttaatga caaataactt tctttatctc
     4441 cttggaatta aagagggctt ttaaaagata a
//
