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2019-03-25 14:32:52, GGRNA : RefSeq release 60 (20130726)

LOCUS       NM_000119               2554 bp    mRNA    linear   PRI 17-APR-2013
DEFINITION  Homo sapiens erythrocyte membrane protein band 4.2 (EPB42),
            transcript variant 1, mRNA.
ACCESSION   NM_000119
VERSION     NM_000119.2  GI:166362734
KEYWORDS    RefSeq.
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 2554)
  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   2  (bases 1 to 2554)
  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   3  (bases 1 to 2554)
  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   4  (bases 1 to 2554)
  AUTHORS   Su,Y., Ding,Y., Jiang,M., Jiang,W., Hu,X. and Zhang,Z.
  TITLE     Associations of protein 4.2 with band 3 and ankyrin
  JOURNAL   Mol. Cell. Biochem. 289 (1-2), 159-166 (2006)
   PUBMED   16718373
  REMARK    GeneRIF: The interactions of three protein 4.2-derived recombinant
            proteins with CDB3 and ankyrin were investigated by using
            Far-Western blot and pull-down assay.
REFERENCE   5  (bases 1 to 2554)
  AUTHORS   Dahl,K.N., Parthasarathy,R., Westhoff,C.M., Layton,D.M. and
            Discher,D.E.
  TITLE     Protein 4.2 is critical to CD47-membrane skeleton attachment in
            human red cells
  JOURNAL   Blood 103 (3), 1131-1136 (2004)
   PUBMED   14551146
  REMARK    GeneRIF: protein 4.2 strongly influences CD47 levels as well as the
            extent of membrane skeleton attachment in erythrocytes
REFERENCE   6  (bases 1 to 2554)
  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   7  (bases 1 to 2554)
  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   8  (bases 1 to 2554)
  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   9  (bases 1 to 2554)
  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
REFERENCE   10 (bases 1 to 2554)
  AUTHORS   Sung,L.A., Chien,S., Chang,L.S., Lambert,K., Bliss,S.A.,
            Bouhassira,E.E., Nagel,R.L., Schwartz,R.S. and Rybicki,A.C.
  TITLE     Molecular cloning of human protein 4.2: a major component of the
            erythrocyte membrane
  JOURNAL   Proc. Natl. Acad. Sci. U.S.A. 87 (3), 955-959 (1990)
   PUBMED   1689063
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DW451374.1, M60298.1,
            BC096093.4 and BU741892.1.
            This sequence is a reference standard in the RefSeqGene project.
            On Jan 31, 2008 this sequence version replaced gi:4557558.
            
            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 (1) encodes the longer 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 :: M60298.1, M30647.1 [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           ERS025081, ERS025084 [ECO:0000350]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-264               DW451374.1         115-378             c
            265-830             M60298.1           424-989
            831-2503            BC096093.4         520-2192
            2504-2554           BU741892.1         1-51                c
FEATURES             Location/Qualifiers
     source          1..2554
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q15-q21"
     gene            1..2554
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="erythrocyte membrane protein band 4.2"
                     /db_xref="GeneID:2038"
                     /db_xref="HGNC:3381"
                     /db_xref="MIM:177070"
     exon            1..400
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     misc_feature    280..282
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="upstream in-frame stop codon"
     CDS             301..2466
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="isoform 1 is encoded by transcript variant 1;
                     erythrocyte surface protein band 4.2; P4.2; erythrocyte
                     protein 4.2"
                     /codon_start=1
                     /product="erythrocyte membrane protein band 4.2 isoform 1"
                     /protein_id="NP_000110.2"
                     /db_xref="GI:166362735"
                     /db_xref="CCDS:CCDS10093.1"
                     /db_xref="GeneID:2038"
                     /db_xref="HGNC:3381"
                     /db_xref="MIM:177070"
                     /translation="
MGQGEPSQRSTGLAGLYAAPAASPVFIKGSGMDALGIKSCDFQAARNNEEHHTKALSSRRLFVRRGQPFTIILYFRAPVRAFLPALKKVALTAQTGEQPSKINRTQATFPISSLGDRKWWSAVVEERDAQSWTISVTTPADAVIGHYSLLLQVSGRKQLLLGQFTLLFNPWNREDAVFLKNEAQRMEYLLNQNGLIYLGTADCIQAESWDFGQFEGDVIDLSLRLLSKDKQVEKWSQPVHVARVLGALLHFLKEQRVLPTPQTQATQEGALLNKRRGSVPILRQWLTGRGRPVYDGQAWVLAAVACTVLRCLGIPARVVTTFASAQGTGGRLLIDEYYNEEGLQNGEGQRGRIWIFQTSTECWMTRPALPQGYDGWQILHPSAPNGGGVLGSCDLVPVRAVKEGTLGLTPAVSDLFAAINASCVVWKCCEDGTLELTDSNTKYVGNNISTKGVGSDRCEDITQNYKYPEGSLQEKEVLERVEKEKMEREKDNGIRPPSLETASPLYLLLKAPSSLPLRGDAQISVTLVNHSEQEKAVQLAIGVQAVHYNGVLAAKLWRKKLHLTLSANLEKIITIGLFFSNFERNPPENTFLRLTAMATHSESNLSCFAQEDIAICRPHLAIKMPEKAEQYQPLTASVSLQNSLDAPMEDCVISILGRGLIHRERSYRFRSVWPENTMCAKFQFTPTHVGLQRLTVEVDCNMFQNLTNYKSVTVVAPELSA
"
     misc_feature    403..768
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="Transglutaminase family; Region: Transglut_N;
                     pfam00868"
                     /db_xref="CDD:201479"
     misc_feature    1171..1446
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="Transglutaminase/protease-like homologues; Region:
                     TGc; smart00460"
                     /db_xref="CDD:128736"
     misc_feature    1819..2127
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="Transglutaminase family, C-terminal ig like domain;
                     Region: Transglut_C; pfam00927"
                     /db_xref="CDD:201509"
     misc_feature    2158..2442
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /note="Transglutaminase family, C-terminal ig like domain;
                     Region: Transglut_C; pfam00927"
                     /db_xref="CDD:201509"
     exon            401..586
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            587..820
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     variation       720
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /replace="a"
                     /replace="g"
                     /db_xref="dbSNP:1042168"
     exon            821..939
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     variation       831
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:1126529"
     exon            940..1044
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            1045..1222
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            1223..1361
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            1362..1465
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            1466..1708
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            1709..2008
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            2009..2169
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     exon            2170..2303
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     variation       2216
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /replace="g"
                     /replace="t"
                     /db_xref="dbSNP:11555770"
     STS             2297..2460
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /standard_name="RH17526"
                     /db_xref="UniSTS:70727"
     exon            2304..2541
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
                     /inference="alignment:Splign:1.39.8"
     polyA_site      2541
                     /gene="EPB42"
                     /gene_synonym="PA; SPH5"
ORIGIN      
ccccagggctgccaggcgtattcctgcctgggcctcctggcacaagagataaaatgaacagggttactcccagtaactggtccaggagataccagcagagagggagtaggagagaagaaacatgtcagggtgctcacaggagtagtggggggaggttttgctatttccagattcttaagccaacaaaagtgccttcatattttctgtctggaagacagaaagcccagaaggagcccagaagcaacagtttgagagaggcgctttctgcggccaagtggataagaggagcggcctgcaaccatgggacagggtgagccaagccagcgctcgacagggcttgctggactgtatgcagcccccgcagcatcacctgttttcattaaaggaagtgggatggatgccctgggtatcaagagctgtgactttcaggcagcaagaaacaatgaggagcaccacaccaaggccctcagctcccggcgcctctttgtgaggagggggcagcccttcaccatcatcctgtacttccgcgctccagtccgtgcatttctgcctgccctgaagaaggtggccctcactgcacaaactggagagcagccttccaagatcaacaggacccaagccacattcccaatttccagtctgggggaccgaaagtggtggagtgcagtggtggaggagagagatgcccagtcctggaccatctctgtgaccacacctgcggacgctgtcattggccactactcgcttctgctgcaggtctcaggcaggaagcaactcctcttgggtcagttcacactgctttttaacccctggaatagagaggatgctgtgttcctgaagaatgaggctcagcgcatggagtacttgttgaaccagaatggtctcatctacctgggtacagctgactgcatccaggcagagtcctgggactttggccagttcgagggggatgtcattgacctcagcctgcgcttgctgagcaaggacaagcaggtagagaagtggagccagccggtgcacgtggcccgtgtgttgggtgccttgctgcattttctcaaggagcagagggtcctgcccaccccgcagacccaggccacccaggaaggggccttgctgaacaagcgccggggcagcgtgcccatcctgcggcagtggctcaccggccgaggccgacctgtgtatgatggccaggcctgggtgttggctgctgttgcttgcacagtgctgcgatgcctgggaatccctgcccgcgtggtgaccacgtttgcctcagcacagggcaccggtgggcgtcttctcatagatgaatactataatgaggagggacttcagaacggagaaggccagagaggcagaatctggatcttccagacttccacagagtgctggatgacgcggcctgccttgccccagggttatgatggatggcagattctgcacccaagtgctcctaatggaggtggagtcctggggtcctgtgatctggtgccggtcagagcagtcaaggaggggacgctggggctgaccccagcagtgtcagacctttttgctgccataaatgcctcatgtgtggtctggaagtgctgtgaggatgggacactggagttgactgactccaacacaaagtatgttggcaacaacatcagcaccaagggtgtgggcagtgaccgctgcgaggacatcactcagaactacaagtatcctgaagggtctcttcaggaaaaagaggtgctggagagagtcgagaaagagaaaatggaacgtgagaaagacaacggcatccgtcctcccagtctcgagactgccagtcctctgtacctgctcttgaaagcacccagctccctacccctgagaggggatgcccagatctcagtgacgctggttaatcacagtgagcaggagaaggcagtgcagctggcaattggggtccaggctgtacactacaacggtgtccttgctgccaagctctggaggaagaagctgcacctcacgctcagtgccaacctggaaaagataataaccatcggcctgttcttctccaattttgagcgaaacccacccgagaacaccttccttagactcaccgccatggcaacacactctgaatccaaccttagctgctttgctcaggaagacattgccatttgtagaccacaccttgccatcaagatgccagagaaagcagagcagtatcaacccctcacagcctcagtcagcctccagaactccctagatgcccccatggaggactgtgtgatctccatcctgggaagggggctcattcacagagagaggagctacagattccgttcagtgtggcctgaaaacaccatgtgtgccaagttccagttcacgccaacacatgtggggctccagagactcactgtggaagtggactgcaacatgttccagaacctaaccaactataaaagcgtcaccgtggtagcccctgaactatcagcttaaacttccagctctatcaccactctcctgccaacccttgttctacaatctaaaccaaacatgtgctaggaagagaaaaaaaaaaaaaaaa
//

Annotations:

ANNOTATIONS from NCBI Entrez Gene (20130726):
            GeneID:2038 -> Molecular function: GO:0003810 [protein-glutamine gamma-glutamyltransferase activity] evidence: IEA
            GeneID:2038 -> Molecular function: GO:0005200 [structural constituent of cytoskeleton] evidence: TAS
            GeneID:2038 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
            GeneID:2038 -> Molecular function: GO:0005524 [ATP binding] evidence: TAS
            GeneID:2038 -> Biological process: GO:0000902 [cell morphogenesis] evidence: IEA
            GeneID:2038 -> Biological process: GO:0008360 [regulation of cell shape] evidence: IEA
            GeneID:2038 -> Biological process: GO:0018149 [peptide cross-linking] evidence: IEA
            GeneID:2038 -> Biological process: GO:0020027 [hemoglobin metabolic process] evidence: IEA
            GeneID:2038 -> Biological process: GO:0043249 [erythrocyte maturation] evidence: IEA
            GeneID:2038 -> Biological process: GO:0048536 [spleen development] evidence: IEA
            GeneID:2038 -> Biological process: GO:0055072 [iron ion homeostasis] evidence: IEA
            GeneID:2038 -> Cellular component: GO:0005856 [cytoskeleton] evidence: TAS
            GeneID:2038 -> Cellular component: GO:0005886 [plasma membrane] evidence: IEA
            GeneID:2038 -> Cellular component: GO:0030863 [cortical cytoskeleton] evidence: IEA

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