LOCUS       NM_001114134            2344 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens erythrocyte membrane protein band 4.2 (EPB42),
            transcript variant 2, mRNA.
ACCESSION   NM_001114134
VERSION     NM_001114134.2
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 2344)
  AUTHORS   Vallese,F., Kim,K., Yen,L.Y., Johnston,J.D., Noble,A.J., Cali,T.
            and Clarke,O.B.
  TITLE     Architecture of the human erythrocyte ankyrin-1 complex
  JOURNAL   Nat Struct Mol Biol 29 (7), 706-718 (2022)
   PUBMED   35835865
REFERENCE   2  (bases 1 to 2344)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   3  (bases 1 to 2344)
  AUTHORS   Bustos,S.P. and Reithmeier,R.A.
  TITLE     Protein 4.2 interaction with hereditary spherocytosis mutants of
            the cytoplasmic domain of human anion exchanger 1
  JOURNAL   Biochem J 433 (2), 313-322 (2011)
   PUBMED   21039340
  REMARK    GeneRIF: study shows that cytoplasmic hereditary spherocytosis
            mutants cause impaired binding of protein 4.2 to AE1, leaving
            protein 4.2 susceptible to loss during erythrocyte development
REFERENCE   4  (bases 1 to 2344)
  AUTHORS   Korsgren,C., Peters,L.L. and Lux,S.E.
  TITLE     Protein 4.2 binds to the carboxyl-terminal EF-hands of erythroid
            alpha-spectrin in a calcium- and calmodulin-dependent manner
  JOURNAL   J Biol Chem 285 (7), 4757-4770 (2010)
   PUBMED   20007969
  REMARK    GeneRIF: Data suggest that one or both of proteins 4.1 and 4.2
            cause a portion of band 3 to localize near the spectrin-actin
            junctions and provide another point of attachment between the
            membrane skeleton and the lipid bilayer.
REFERENCE   5  (bases 1 to 2344)
  AUTHORS   Satchwell,T.J., Shoemark,D.K., Sessions,R.B. and Toye,A.M.
  TITLE     Protein 4.2: a complex linker
  JOURNAL   Blood Cells Mol Dis 42 (3), 201-210 (2009)
   PUBMED   19269200
  REMARK    GeneRIF: Current understanding of protein 4.2, its known
            interactions & implications of protein 4.2 deficiency are reviewed.
            A new speculative 'open' homology structure for the the active,
            membrane associated form is proposed. Review.
            Review article
REFERENCE   6  (bases 1 to 2344)
  AUTHORS   Kalfa,T.A. and Begtrup,A.H.
  TITLE     EPB42-Related Hereditary Spherocytosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   24624460
REFERENCE   7  (bases 1 to 2344)
  AUTHORS   White,R.A., Peters,L.L., Adkison,L.R., Korsgren,C., Cohen,C.M. and
            Lux,S.E.
  TITLE     The murine pallid mutation is a platelet storage pool disease
            associated with the protein 4.2 (pallidin) gene
  JOURNAL   Nat Genet 2 (1), 80-83 (1992)
   PUBMED   1284644
REFERENCE   8  (bases 1 to 2344)
  AUTHORS   Sung,L.A., Chien,S., Fan,Y.S., Lin,C.C., Lambert,K., Zhu,L.,
            Lam,J.S. and Chang,L.S.
  TITLE     Human erythrocyte protein 4.2: isoform expression, differential
            splicing, and chromosomal assignment
  JOURNAL   Blood 79 (10), 2763-2770 (1992)
   PUBMED   1350227
REFERENCE   9  (bases 1 to 2344)
  AUTHORS   Bouhassira,E.E., Schwartz,R.S., Yawata,Y., Ata,K., Kanzaki,A.,
            Qiu,J.J., Nagel,R.L. and Rybicki,A.C.
  TITLE     An alanine-to-threonine substitution in protein 4.2 cDNA is
            associated with a Japanese form of hereditary hemolytic anemia
            (protein 4.2NIPPON)
  JOURNAL   Blood 79 (7), 1846-1854 (1992)
   PUBMED   1558976
REFERENCE   10 (bases 1 to 2344)
  AUTHORS   Risinger,M.A., Dotimas,E.M. and Cohen,C.M.
  TITLE     Human erythrocyte protein 4.2, a high copy number membrane protein,
            is N-myristylated
  JOURNAL   J Biol Chem 267 (8), 5680-5685 (1992)
   PUBMED   1544941
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DW451374.1, BC096094.2 and
            BU741892.1.
            
            On Feb 25, 2020 this sequence version replaced NM_001114134.1.
            
            Summary: Erythrocyte membrane protein band 4.2 is an ATP-binding
            protein which may regulate the association of protein 3 with
            ankyrin. It probably has a role in erythrocyte shape and mechanical
            property regulation. Mutations in the EPB42 gene are associated
            with recessive spherocytic elliptocytosis and recessively
            transmitted hereditary hemolytic anemia. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) has an alternate splice site
            in the 5' region, as compared to variant 1. The resulting isoform 2
            lacks an internal segment in the N-terminal region, as compared to
            isoform 1.
            
            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 :: AK297146.1, BC096093.4 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968968,
                                           SAMEA2142680 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000441366.7/ ENSP00000396616.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-114               DW451374.1         158-271             c
            115-2306            BC096094.2         1-2192
            2307-2344           BU741892.1         14-51               c
FEATURES             Location/Qualifiers
     source          1..2344
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15.2"
     gene            1..2344
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="erythrocyte membrane protein band 4.2"
                     /db_xref="GeneID:2038"
                     /db_xref="HGNC:HGNC:3381"
                     /db_xref="MIM:177070"
     exon            1..203
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     CDS             194..2269
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="isoform 2 is encoded by transcript variant 2;
                     erythrocyte surface protein band 4.2; P4.2; erythrocyte
                     protein 4.2"
                     /codon_start=1
                     /product="protein 4.2 isoform 2"
                     /protein_id="NP_001107606.1"
                     /db_xref="CCDS:CCDS45249.1"
                     /db_xref="GeneID:2038"
                     /db_xref="HGNC:HGNC:3381"
                     /db_xref="MIM:177070"
                     /translation="MGQALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILY
                     FRAPVRAFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSW
                     TISVTTPADAVIGHYSLLLQVSGRKQLLLGQFTLLFNPWNREDAVFLKNEAQRMEYLL
                     NQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVHVARVLGAL
                     LHFLKEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVAC
                     TVLRCLGIPARVVTTFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWM
                     TRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRAVKEGTLGLTPAVSDLFAAINAS
                     CVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLER
                     VEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQ
                     LAIGVQAVHYNGVLAAKLWRKKLHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTA
                     MATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSLQNSLDAPMEDCVIS
                     ILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSV
                     TVVAPELSA"
     exon            204..389
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            390..623
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            624..742
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            743..847
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            848..1025
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1026..1164
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1165..1268
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1269..1511
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1512..1811
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1812..1972
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            1973..2106
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     exon            2107..2344
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2344
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="major polyA site"
ORIGIN      
        1 aggagagaag aaacatgtca gggtgctcac aggagtagtg gggggaggtt ttgctatttc
       61 cagattctta agccaacaaa agtgccttca tattttctgt ctggaagaca gaaagcccag
      121 aaggagccca gaagcaacag tttgagagag gcgctttctg cggccaagtg gataagagga
      181 gcggcctgca accatgggac aggccctggg tatcaagagc tgtgactttc aggcagcaag
      241 aaacaatgag gagcaccaca ccaaggccct cagctcccgg cgcctctttg tgaggagggg
      301 gcagcccttc accatcatcc tgtacttccg cgctccagtc cgtgcatttc tgcctgccct
      361 gaagaaggtg gccctcactg cacaaactgg agagcagcct tccaagatca acaggaccca
      421 agccacattc ccaatttcca gtctggggga ccgaaagtgg tggagtgcag tggtggagga
      481 gagagatgcc cagtcctgga ccatctctgt gaccacacct gcggacgctg tcattggcca
      541 ctactcgctt ctgctgcagg tctcaggcag gaagcaactc ctcttgggtc agttcacact
      601 gctttttaac ccctggaata gagaggatgc tgtgttcctg aagaatgagg ctcagcgcat
      661 ggagtacttg ttgaaccaga atggtctcat ctacctgggt acagctgact gcatccaggc
      721 agagtcctgg gactttggcc agttcgaggg ggatgtcatt gacctcagcc tgcgcttgct
      781 gagcaaggac aagcaggtag agaagtggag ccagccggtg cacgtggccc gtgtgttggg
      841 tgccttgctg cattttctca aggagcagag ggtcctgccc accccgcaga cccaggccac
      901 ccaggaaggg gccttgctga acaagcgccg gggcagcgtg cccatcctgc ggcagtggct
      961 caccggccga ggccgacctg tgtatgatgg ccaggcctgg gtgttggctg ctgttgcttg
     1021 cacagtgctg cgatgcctgg gaatccctgc ccgcgtggtg accacgtttg cctcagcaca
     1081 gggcaccggt gggcgtcttc tcatagatga atactataat gaggagggac ttcagaacgg
     1141 agaaggccag agaggcagaa tctggatctt ccagacttcc acagagtgct ggatgacgcg
     1201 gcctgccttg ccccagggtt atgatggatg gcagattctg cacccaagtg ctcctaatgg
     1261 aggtggagtc ctggggtcct gtgatctggt gccggtcaga gcagtcaagg aggggacgct
     1321 ggggctgacc ccagcagtgt cagacctttt tgctgccata aatgcctcat gtgtggtctg
     1381 gaagtgctgt gaggatggga cactggagtt gactgactcc aacacaaagt atgttggcaa
     1441 caacatcagc accaagggtg tgggcagtga ccgctgcgag gacatcactc agaactacaa
     1501 gtatcctgaa gggtctcttc aggaaaaaga ggtgctggag agagtcgaga aagagaaaat
     1561 ggaacgtgag aaagacaacg gcatccgtcc tcccagtctc gagactgcca gtcctctgta
     1621 cctgctcttg aaagcaccca gctccctacc cctgagaggg gatgcccaga tctcagtgac
     1681 gctggttaat cacagtgagc aggagaaggc agtgcagctg gcaattgggg tccaggctgt
     1741 acactacaac ggtgtccttg ctgccaagct ctggaggaag aagctgcacc tcacgctcag
     1801 tgccaacctg gaaaagataa taaccatcgg cctgttcttc tccaattttg agcgaaaccc
     1861 acccgagaac accttcctta gactcaccgc catggcaaca cactctgaat ccaaccttag
     1921 ctgctttgct caggaagaca ttgccatttg tagaccacac cttgccatca agatgccaga
     1981 gaaagcagag cagtatcaac ccctcacagc ctcagtcagc ctccagaact ccctagatgc
     2041 ccccatggag gactgtgtga tctccatcct gggaaggggg ctcattcaca gagagaggag
     2101 ctacagattc cgttcagtgt ggcctgaaaa caccatgtgt gccaagttcc agttcacgcc
     2161 aacacatgtg gggctccaga gactcactgt ggaagtggac tgcaacatgt tccagaacct
     2221 aaccaactat aaaagcgtca ccgtggtagc ccctgaacta tcagcttaaa cttccagctc
     2281 tatcaccact ctcctgccaa cccttgttct acaatctaaa ccaaacatgt gctaggaaga
     2341 gaaa
//
