LOCUS       NM_004099               3145 bp    mRNA    linear   PRI 24-APR-2024
DEFINITION  Homo sapiens stomatin (STOM), transcript variant 1, mRNA.
ACCESSION   NM_004099
VERSION     NM_004099.6
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 3145)
  AUTHORS   Zhu,Z., Guo,Z., Gao,X., Chen,Y., Huang,J., Li,L. and Sun,B.
  TITLE     Stomatin promotes neutrophil degranulation and vascular leakage in
            the early stage after severe burn via enhancement of the
            intracellular binding of neutrophil primary granules to F-actin
  JOURNAL   Burns 50 (3), 653-665 (2024)
   PUBMED   38185615
  REMARK    GeneRIF: Stomatin promotes neutrophil degranulation and vascular
            leakage in the early stage after severe burn via enhancement of the
            intracellular binding of neutrophil primary granules to F-actin.
REFERENCE   2  (bases 1 to 3145)
  AUTHORS   Rouge,S., Genetet,S., Leal Denis,M.F., Dussiot,M.,
            Schwarzbaum,P.J., Ostuni,M.A. and Mouro-Chanteloup,I.
  TITLE     Mechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in
            Human Red Blood Cells
  JOURNAL   Int J Mol Sci 23 (16), 9401 (2022)
   PUBMED   36012667
  REMARK    GeneRIF: Mechanosensitive Pannexin 1 Activity Is Modulated by
            Stomatin in Human Red Blood Cells.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3145)
  AUTHORS   Stewart,G.W.
  TITLE     Stomatin
  JOURNAL   Int J Biochem Cell Biol 29 (2), 271-274 (1997)
   PUBMED   9147127
  REMARK    Review article
REFERENCE   4  (bases 1 to 3145)
  AUTHORS   Unfried,I., Entler,B. and Prohaska,R.
  TITLE     The organization of the gene (EPB72) encoding the human erythrocyte
            band 7 integral membrane protein (protein 7.2b)
  JOURNAL   Genomics 30 (3), 521-528 (1995)
   PUBMED   8825639
REFERENCE   5  (bases 1 to 3145)
  AUTHORS   Gallagher,P.G. and Forget,B.G.
  TITLE     Structure, organization, and expression of the human band 7.2b
            gene, a candidate gene for hereditary hydrocytosis
  JOURNAL   J Biol Chem 270 (44), 26358-26363 (1995)
   PUBMED   7592848
REFERENCE   6  (bases 1 to 3145)
  AUTHORS   Gallagher,P.G., Upender,M., Ward,D.C. and Forget,B.G.
  TITLE     The gene for human erythrocyte membrane protein band 7.2 (EPB72)
            maps to 9q33-q34 centromeric to the Philadelphia chromosome
            translocation breakpoint region
  JOURNAL   Genomics 18 (1), 167-169 (1993)
   PUBMED   8276411
REFERENCE   7  (bases 1 to 3145)
  AUTHORS   Salzer,U., Ahorn,H. and Prohaska,R.
  TITLE     Identification of the phosphorylation site on human erythrocyte
            band 7 integral membrane protein: implications for a monotopic
            protein structure
  JOURNAL   Biochim Biophys Acta 1151 (2), 149-152 (1993)
   PUBMED   8373790
REFERENCE   8  (bases 1 to 3145)
  AUTHORS   Westberg,J.A., Entler,B., Prohaska,R. and Schroder,J.P.
  TITLE     The gene coding for erythrocyte protein band 7.2b (EPB72) is
            located in band q34.1 of human chromosome 9
  JOURNAL   Cytogenet Cell Genet 63 (4), 241-243 (1993)
   PUBMED   8500356
REFERENCE   9  (bases 1 to 3145)
  AUTHORS   Stewart,G.W., Hepworth-Jones,B.E., Keen,J.N., Dash,B.C.,
            Argent,A.C. and Casimir,C.M.
  TITLE     Isolation of cDNA coding for an ubiquitous membrane protein
            deficient in high Na+, low K+ stomatocytic erythrocytes
  JOURNAL   Blood 79 (6), 1593-1601 (1992)
   PUBMED   1547348
REFERENCE   10 (bases 1 to 3145)
  AUTHORS   Hiebl-Dirschmied,C.M., Entler,B., Glotzmann,C., Maurer-Fogy,I.,
            Stratowa,C. and Prohaska,R.
  TITLE     Cloning and nucleotide sequence of cDNA encoding human erythrocyte
            band 7 integral membrane protein
  JOURNAL   Biochim Biophys Acta 1090 (1), 123-124 (1991)
   PUBMED   1883838
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC368197.1, X60067.1,
            AL161784.13 and AI224884.1.
            
            On May 17, 2019 this sequence version replaced NM_004099.5.
            
            Summary: This gene encodes a member of a highly conserved family of
            integral membrane proteins. The encoded protein localizes to the
            cell membrane of red blood cells and other cell types, where it may
            regulate ion channels and transporters. Loss of localization of the
            encoded protein is associated with hereditary stomatocytosis, a
            form of hemolytic anemia. There is a pseudogene for this gene on
            chromosome 6. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Jul 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR1803616.88435.1,
                                           SRR1803616.243471.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2158569, SAMEA2159080
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000286713.7/ ENSP00000286713.2
            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
            1-63                DC368197.1         55-117
            64-647              X60067.1           1-584
            648-648             AL161784.13        13614-13614         c
            649-981             X60067.1           586-918
            982-2753            AL161784.13        4903-6674           c
            2754-3144           AI224884.1         1-391               c
            3145-3145           AL161784.13        4511-4511           c
FEATURES             Location/Qualifiers
     source          1..3145
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.2"
     gene            1..3145
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /note="stomatin"
                     /db_xref="GeneID:2040"
                     /db_xref="HGNC:HGNC:3383"
                     /db_xref="MIM:133090"
     exon            1..124
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /inference="alignment:Splign:2.1.0"
     CDS             64..930
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /note="isoform a is encoded by transcript variant 1;
                     erythrocyte membrane protein band 7.2 (stomatin);
                     erythrocyte band 7 integral membrane protein; protein
                     7.2b; erythrocyte surface protein band 7.2"
                     /codon_start=1
                     /product="stomatin isoform a"
                     /protein_id="NP_004090.4"
                     /db_xref="CCDS:CCDS6830.1"
                     /db_xref="GeneID:2040"
                     /db_xref="HGNC:HGNC:3383"
                     /db_xref="MIM:133090"
                     /translation="MAEKRHTRDSEAQRLPDSFKDSPSKGLGPCGWILVAFSFLFTVI
                     TFPISIWMCIKIIKEYERAIIFRLGRILQGGAKGPGLFFILPCTDSFIKVDMRTISFD
                     IPPQEILTKDSVTISVDGVVYYRVQNATLAVANITNADSATRLLAQTTLRNVLGTKNL
                     SQILSDREEIAHNMQSTLDDATDAWGIKVERVEIKDVKLPVQLQRAMAAEAEASREAR
                     AKVIAAEGEMNASRALKEASMVITESPAALQLRYLQTLTTIAAEKNSTIVFPLPIDML
                     QGIIGAKHSHLG"
     exon            125..228
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /inference="alignment:Splign:2.1.0"
     exon            229..301
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /inference="alignment:Splign:2.1.0"
     exon            302..384
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /inference="alignment:Splign:2.1.0"
     exon            385..588
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /inference="alignment:Splign:2.1.0"
     exon            589..723
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /inference="alignment:Splign:2.1.0"
     exon            724..3145
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2036..2041
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /note="hexamer: AATAAA"
     polyA_site      2058
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /note="major polyA site"
     regulatory      3031..3036
                     /regulatory_class="polyA_signal_sequence"
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /note="hexamer: AATAAA"
     polyA_site      3057
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
                     /note="major polyA site"
     polyA_site      3145
                     /gene="STOM"
                     /gene_synonym="BND7; EPB7; EPB72"
ORIGIN      
        1 gcattcccgg cggctccggg tttggcaacg aggacggggg agtgcgactg cgtctcgggc
       61 agcatggccg agaagcggca cacacgggac tccgaagccc agcggctccc cgactccttc
      121 aaggacagcc ccagtaaggg ccttggacct tgcggatgga ttttggtggc gttctcattc
      181 ttattcaccg ttataacttt cccaatctca atatggatgt gcataaagat tataaaagag
      241 tatgaaagag ccatcatctt tagattgggt cgcattttac aaggaggagc caaaggacct
      301 ggtttgtttt ttattctgcc atgcactgac agcttcatca aagtggacat gagaactatt
      361 tcatttgata ttcctcctca ggagatcctc acaaaggatt cagtgacaat tagcgtggat
      421 ggtgtggtct attaccgcgt tcagaatgca accctggctg tggcaaatat caccaacgct
      481 gactcagcaa cccgtctttt ggcacaaact actctgagga atgttctggg caccaagaat
      541 ctttctcaga tcctctctga cagagaagaa attgcacaca acatgcagtc tactctggat
      601 gatgccactg atgcctgggg aataaaggtg gagcgtgtgg aaattaagga tgtgaaacta
      661 cctgtgcagc tccagagagc tatggctgca gaagcagaag cgtcccgcga ggcccgcgcc
      721 aaggttattg cagccgaagg agaaatgaat gcatccaggg ctctgaaaga agcctccatg
      781 gtcatcactg aatctcctgc agcccttcag ctccgatacc tgcagacact gaccaccatt
      841 gctgctgaga aaaactcaac aattgtcttc cctctgccca tagatatgct gcaaggaatc
      901 ataggggcaa aacacagcca tctaggctag tgtagagatg agcgctagcc ttccaagcat
      961 gaagtcgggg accaaattag cctttaactc ataaagagag ggtagggctt ttctttttcc
     1021 atatgtcaat tgtggtgttc ccagaatgta tagcagttat aaaaataggt gaaagaattg
     1081 ttagcttgta aatactgaga gattggtgat ttatataagg taatctgtta gtcttaaaat
     1141 agttaaaagt ttgtattttt agattattat gtagtaggtt agatccctct tgttttgact
     1201 tccactgact cattctgaac cccctaagca cccaggccag aggcaagaac ctgggctgta
     1261 actgccacct gacaccgctg actggctaaa tgctttgcag aaagtgatga ccttacacca
     1321 caaccagctt ctccaggtca tatgtgcctt acctccagag agtctttttt tttttttttc
     1381 tgagatggag tttcactctt gttgcccagg ctggagtgca atagcatgat ctcggctcac
     1441 tgcaacctcc gcctcctggg ttcaagagat tctcctgcct cagcctcccc agtagctggg
     1501 attacaggct catgccacca tgcccagcta atttttgtat tattattatt gttttttagt
     1561 agagacgggg tttcaccatg ttggccaggc tagtcacgaa ctcctaacct caggtgatcc
     1621 acccacctct gcctcccaaa gtgctgggat tacaggcatg agctaccaca cctggtttgg
     1681 agagtcttaa ttaaggaaat ttccctaatg ttcatttatt ttctaaatcc agaccgtgtt
     1741 tcagaataat ccttacttga gagtagccat tttcttgcct gtacttgtca gaactagagg
     1801 aaatagccaa gactaatgaa aaagattact ctaaccctta aaagactttt aaattcacta
     1861 ctagagtggt cattttaaaa atacatccat gttttaactt atttgagcct tctttatgag
     1921 taaatgattc ctccttgttc tgtctttcaa accagctaaa tatttgtcac aaaagtgctt
     1981 ttttctcact gttgcctatt ttcatatatc aggttttaaa tagttttaat tttttaataa
     2041 aattttctct acgttctata tgcaattgtt atatatctat ttgaatagct gaaggactaa
     2101 aatacttttt taagagataa cttcaggaaa ccattatatt ttactatctg catgctgtta
     2161 actgtggtac actgtgaaat atgttgatta caaacccatt cattacatag tataaggaat
     2221 tcacagtata ttgactatat agtgtctaat gatcttgggc agatactgtc aaacttacaa
     2281 tatctatata gatgtaggtc tttttaaatt tacctagtca ttcttctatc atgtatattg
     2341 atgctgaaag aggaactggt cagctcctct ggacaacaaa ttcttagtct ataatattag
     2401 gagacatctt ctgttttgca aatgtctgtg aatctgagca acctggcatt ctgcttactg
     2461 gccagaaagc tggcgggtga catttgtaac atttcctctt tgagactctg agttcaccta
     2521 gagaagtcta agcataacag ctttctttcc cagcacgagc ctttatagct ctctttagct
     2581 caaccactct gtccatccag ccaatggatg tcccttcccc tgtaccccaa tttcaagctt
     2641 attttaggaa gccttgaact accatgtatc ctggctccta gctgagttta ttagaggtat
     2701 ggagcagtgc aacttaaact caagttgcac ttacattttg aattttaaaa tgatggtttt
     2761 atctgttgtg tgaagtggtt cacccttgag gaccaggagc ctccatatcc tgactgaaaa
     2821 ccttttctga gacttagagt aacagtgctt ttggttcctt gagttctcct gtctccagat
     2881 accaaatgac cttgactttt ctgccttgtg aattcgtagt ccaatcagct gaaattaaat
     2941 cacttgggag ggacgcatag aaggagctct aggaacacag tgccagtgca gaagtttctc
     3001 caggtggcct ccctttccaa caatgtacat aataaagtgt atgcactttc actaatattt
     3061 ttggggtgag agtctgtttc ggcctgtatt gaatgtctgt ggatttccgt tttcagaagt
     3121 agtacattag atcctccggt tctga
//
