LOCUS       NM_001431               4380 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens erythrocyte membrane protein band 4.1 like 2
            (EPB41L2), transcript variant 1, mRNA.
ACCESSION   NM_001431
VERSION     NM_001431.4
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 4380)
  AUTHORS   Khoroshkin,M., Buyan,A., Dodel,M., Navickas,A., Yu,J., Trejo,F.,
            Doty,A., Baratam,R., Zhou,S., Lee,S.B., Joshi,T., Garcia,K.,
            Choi,B., Miglani,S., Subramanyam,V., Modi,H., Carpenter,C.,
            Markett,D., Corces,M.R., Mardakheh,F.K., Kulakovskiy,I.V. and
            Goodarzi,H.
  TITLE     Systematic identification of post-transcriptional regulatory
            modules
  JOURNAL   Nat Commun 15 (1), 7872 (2024)
   PUBMED   39251607
  REMARK    Erratum:[Nat Commun. 2024 Oct 28;15(1):9277. doi:
            10.1038/s41467-024-52903-4.. PMID: 39468017]
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4380)
  AUTHORS   Segal,D., Maier,S., Mastromarco,G.J., Qian,W.W., Nabeel-Shah,S.,
            Lee,H., Moore,G., Lacoste,J., Larsen,B., Lin,Z.Y.,
            Selvabaskaran,A., Liu,K., Smibert,C., Zhang,Z., Greenblatt,J.,
            Peng,J., Lee,H.O., Gingras,A.C. and Taipale,M.
  TITLE     A central chaperone-like role for 14-3-3 proteins in human cells
  JOURNAL   Mol Cell 83 (6), 974-993 (2023)
   PUBMED   36931259
REFERENCE   3  (bases 1 to 4380)
  AUTHORS   Jiang,Z., Hou,Z., Li,L., Liu,W., Yu,Z. and Chen,S.
  TITLE     Exosomal circEPB41L2 serves as a sponge for miR-21-5p and
            miR-942-5p to suppress colorectal cancer progression by regulating
            the PTEN/AKT signalling pathway
  JOURNAL   Eur J Clin Invest 51 (9), e13581 (2021)
   PUBMED   34022068
  REMARK    GeneRIF: Exosomal circEPB41L2 serves as a sponge for miR-21-5p and
            miR-942-5p to suppress colorectal cancer progression by regulating
            the PTEN/AKT signalling pathway.
REFERENCE   4  (bases 1 to 4380)
  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   5  (bases 1 to 4380)
  AUTHORS   Saito,M., Cui,L., Hirano,M., Li,G., Yanagisawa,T., Sato,T. and
            Sukegawa,J.
  TITLE     Activity of Adenylyl Cyclase Type 6 Is Suppressed by Direct Binding
            of the Cytoskeletal Protein 4.1G
  JOURNAL   Mol Pharmacol 96 (4), 441-451 (2019)
   PUBMED   31383768
  REMARK    GeneRIF: Data found that direct binding of 4.1G to the N-terminus
            of AC6 (AC6-N) contributes to the plasma membrane association of
            AC6-N and the resulting suppression of AC6 cyclase activity.
REFERENCE   6  (bases 1 to 4380)
  AUTHORS   Kontrogianni-Konstantopoulos,A., Frye,C.S., Benz,E.J. Jr. and
            Huang,S.C.
  TITLE     The prototypical 4.1R-10-kDa domain and the 4.1g-10-kDa paralog
            mediate fodrin-actin complex formation
  JOURNAL   J Biol Chem 276 (23), 20679-20687 (2001)
   PUBMED   11274145
REFERENCE   7  (bases 1 to 4380)
  AUTHORS   Shen,L., Liang,F., Walensky,L.D. and Huganir,R.L.
  TITLE     Regulation of AMPA receptor GluR1 subunit surface expression by a
            4. 1N-linked actin cytoskeletal association
  JOURNAL   J Neurosci 20 (21), 7932-7940 (2000)
   PUBMED   11050113
REFERENCE   8  (bases 1 to 4380)
  AUTHORS   Peters,L.L., Weier,H.U., Walensky,L.D., Snyder,S.H., Parra,M.,
            Mohandas,N. and Conboy,J.G.
  TITLE     Four paralogous protein 4.1 genes map to distinct chromosomes in
            mouse and human
  JOURNAL   Genomics 54 (2), 348-350 (1998)
   PUBMED   9828140
REFERENCE   9  (bases 1 to 4380)
  AUTHORS   Parra,M., Gascard,P., Walensky,L.D., Snyder,S.H., Mohandas,N. and
            Conboy,J.G.
  TITLE     Cloning and characterization of 4.1G (EPB41L2), a new member of the
            skeletal protein 4.1 (EPB41) gene family
  JOURNAL   Genomics 49 (2), 298-306 (1998)
   PUBMED   9598318
REFERENCE   10 (bases 1 to 4380)
  AUTHORS   Walensky,L.D., Gascard,P., Fields,M.E., Blackshaw,S., Conboy,J.G.,
            Mohandas,N. and Snyder,S.H.
  TITLE     The 13-kD FK506 binding protein, FKBP13, interacts with a novel
            homologue of the erythrocyte membrane cytoskeletal protein 4.1
  JOURNAL   J Cell Biol 141 (1), 143-153 (1998)
   PUBMED   9531554
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA108957.1, AF027299.1 and BC034718.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001431.3.
            
            Transcript Variant: This variant (1), as well as variant 9, encodes
            isoform a.
            
            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 :: SRR1803616.147497.1,
                                           SRR1803615.215175.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000337057.8/ ENSP00000338481.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-91                DA108957.1         78-168
            92-3731             AF027299.1         31-3670
            3732-4380           BC034718.1         3265-3913
FEATURES             Location/Qualifiers
     source          1..4380
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q23.1-q23.2"
     gene            1..4380
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /note="erythrocyte membrane protein band 4.1 like 2"
                     /db_xref="GeneID:2037"
                     /db_xref="HGNC:HGNC:3379"
                     /db_xref="MIM:603237"
     exon            1..91
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            92..597
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     CDS             106..3123
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /note="isoform a is encoded by transcript variant 1; band
                     4.1-like protein 2; erythrocyte membrane protein band 4.1
                     like-protein 2; generally expressed protein 4.1"
                     /codon_start=1
                     /product="band 4.1-like protein 2 isoform a"
                     /protein_id="NP_001422.1"
                     /db_xref="CCDS:CCDS5141.1"
                     /db_xref="GeneID:2037"
                     /db_xref="HGNC:HGNC:3379"
                     /db_xref="MIM:603237"
                     /translation="MTTEVGSVSEVKKDSSQLGTDATKEKPKEVAENQQNQSSDPEEE
                     KGSQPPPAAESQSSLRRQKREKETSESRGISRFIPPWLKKQKSYTLVVAKDGGDKKEP
                     TQAVVEEQVLDKEEPLPEEQRQAKGDAEEMAQKKQEIKVEVKEEKPSVSKEEKPSVSK
                     VEMQPTELVSKEREEKVKETQEDKLEGGAAKRETKEVQTNELKAEKASQKVTKKTKTV
                     QCKVTLLDGTEYSCDLEKHAKGQVLFDKVCEHLNLLEKDYFGLLFQESPEQKNWLDPA
                     KEIKRQLRNLPWLFTFNVKFYPPDPSQLTEDITRYFLCLQLRQDIASGRLPCSFVTHA
                     LLGSYTLQAELGDYDPEEHGSIDLSEFQFAPTQTKELEEKVAELHKTHRGLSPAQADS
                     QFLENAKRLSMYGVDLHHAKDSEGVDIKLGVCANGLLIYKDRLRINRFAWPKILKISY
                     KRSNFYIKVRPAELEQFESTIGFKLPNHRAAKRLWKVCVEHHTFYRLVSPEQPPKAKF
                     LTLGSKFRYSGRTQAQTRQASTLIDRPAPHFERTSSKRVSRSLDGAPIGVMDQSLMKD
                     FPGAAGEISAYGPGLVSIAVVQDGDGRREVRSPTKAPHLQLIEGKKNSLRVEGDNIYV
                     RHSNLMLEELDKAQEDILKHQASISELKRNFMESTPEPRPNEWEKRRITPLSLQTQGS
                     SHETLNIVEEKKRAEVGKDERVITEEMNGKEISPGSGPGEIRKVEPVTQKDSTSLSSE
                     SSSSSSESEEEDVGEYRPHHRVTEGTIREEQEYEEEVEEEPRPAAKVVEREEAVPEAS
                     PVTQAGASVITVETVIQENVGAQKIPGEKSVHEGALKQDMGEEAEEEPQKVNGEVSHV
                     DIDVLPQIICCSEPPVVKTEMVTISDASQRTEISTKEVPIVQTETKTITYESPQIDGG
                     AGGDSGTLLTAQTITSESVSTTTTTHITKTVKGGISETRIEKRIVITGDGDIDHDQAL
                     AQAIREAREQHPDMSVTRVVVHKETELAEEGED"
     exon            598..810
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            811..915
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            916..958
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            959..1034
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            1035..1253
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            1254..1341
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1494
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            1495..1592
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            1593..1765
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            1766..1938
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            1939..2001
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            2002..2148
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            2149..2712
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            2713..2835
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            2836..2934
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            2935..3015
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            3016..3128
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     exon            3129..4380
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4357..4362
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /note="hexamer: AATAAA"
     polyA_site      4380
                     /gene="EPB41L2"
                     /gene_synonym="4.1-G; 4.1G"
                     /note="major polyA site"
ORIGIN      
        1 aatttgaaac ctagcggagg gaggaggcag gcgcggctgc cggcggctgg gactgaagag
       61 ggacgggtcc cgcggcgagc gagctcctga gcataagctg tggccatgac tactgaagta
      121 ggctctgtgt ctgaagtgaa gaaggactct agccagttag gaacagatgc aaccaaggaa
      181 aaacctaaag aagtagcaga aaatcagcag aatcagtctt ccgatccaga ggaggaaaaa
      241 ggttcccagc cacctcctgc agctgaaagc caaagtagtc tacgccgcca gaagagagag
      301 aaggaaacat cggagagcag gggtatttct cggttcatac cgccatggct taagaagcaa
      361 aagtcatata ccttagtagt ggccaaagat ggaggagata aaaaagagcc tacccaagct
      421 gttgttgaag aacaggtctt agataaagag gaaccccttc cagaagaaca gagacaggct
      481 aagggtgatg ctgaagaaat ggctcagaag aaacaagaga ttaaagttga agtcaaggaa
      541 gaaaaaccct cagtgagcaa ggaagaaaaa ccctcagtga gcaaagtgga gatgcagcct
      601 actgaattag taagtaagga gagagaagag aaggtaaaag aaacacagga agacaaatta
      661 gaaggaggag cagcaaaaag ggagaccaag gaagtgcaga ccaatgagct gaaagcagag
      721 aaggcatctc aaaaagtcac caagaagacc aaaactgtcc agtgtaaagt gaccctctta
      781 gatggcaccg aatacagctg tgacctggag aaacatgcca agggacaagt gttatttgac
      841 aaagtgtgtg aacacctcaa tctcttggag aaagactact ttggactttt gtttcaggaa
      901 agccctgagc agaaaaactg gttagatcct gctaaagaaa taaagagaca actgagaaac
      961 cttccatggc tattcacttt taatgtgaag ttttatcctc ctgatccttc tcaattgact
     1021 gaagatatca ccagatactt cttgtgcctt cagctccggc aggacattgc ctctggccgc
     1081 ctgccctgct cttttgtgac tcatgctctc ctgggatcct acaccctgca ggctgaactt
     1141 ggtgactatg acccagaaga acatggcagc atcgacctca gtgaattcca gtttgcccct
     1201 actcagacta aggagctgga agagaaggtg gcagagctgc acaaaaccca caggggctta
     1261 tcgccagcac aagctgattc ccagttctta gaaaatgcaa agaggctttc catgtatggt
     1321 gttgacctac atcatgccaa ggactcagaa ggtgtggaca tcaagctggg cgtgtgtgct
     1381 aatggacttc tcatttacaa agacagactg cgaatcaatc gttttgcttg gccgaaaatc
     1441 ttaaaaattt cctataaacg cagtaacttc tacattaaag tcagaccggc agagctggaa
     1501 cagtttgaga gtaccattgg attcaaactg ccaaaccacc gggcagcgaa aagactatgg
     1561 aaagtgtgcg tggagcatca tactttctac aggcttgttt ctccagagca gccaccaaaa
     1621 gccaagttcc tgaccttggg gtccaaattt cgctatagtg gccgcaccca agcacagacc
     1681 cgccaggcca gcaccctcat agataggcca gcaccacact ttgagcgcac ttctagtaaa
     1741 cgggtctcca ggagtctaga tggagctccg attggtgtca tggaccaaag tcttatgaag
     1801 gattttcctg gcgctgctgg ggagatttca gcctatggac ctggacttgt cagcattgcc
     1861 gtggtacaag atggggacgg caggagggaa gtgagaagcc caactaaagc cccacatttg
     1921 cagctcattg aaggaaagaa aaattccttg agagtagaag gggataatat ttatgtcaga
     1981 catagcaatt taatgttgga ggaactggat aaggcccagg aggacatact gaaacatcag
     2041 gctagcatta gtgaactcaa gcgcaatttt atggaatcca cacctgagcc gcgccctaat
     2101 gaatgggaaa aacgacgtat cacacctctg tccctacaga cacaagggag ttcacatgag
     2161 actctgaata tagtggagga gaagaagcgg gcagaggttg ggaaagacga aagagtaatc
     2221 acagaagaaa tgaatggtaa agagatatca cctgggagtg gtcctgggga gattcgtaag
     2281 gtggagcctg tgacacaaaa agactccacc tccctgtctt ctgagagcag cagcagcagc
     2341 agtgagagtg aggaggaaga cgtgggagag taccgtcccc accaccgagt gaccgagggc
     2401 accatcaggg aggaacagga gtatgaagaa gaggtggagg aagaaccccg cccggcagcc
     2461 aaggtagtag agagggagga agcagtgccc gaagccagcc cagtcacaca agcaggtgcc
     2521 agtgtaatca cagtagaaac agtgatccag gaaaatgtag gtgcccaaaa gatacccgga
     2581 gagaagagtg tacacgaagg cgctcttaag caagacatgg gagaagaagc agaggaagag
     2641 ccacagaaag ttaacggaga ggtgtcccat gttgacattg atgttttgcc acaaattatt
     2701 tgttgttcag agccaccagt ggtaaaaaca gagatggtaa caatttctga tgcctcacaa
     2761 aggacagaaa tctccaccaa ggaagtcccc attgtccaaa ctgagaccaa aaccatcaca
     2821 tatgagtctc cacagattga tggcggggct ggtggtgatt cgggcacgtt actgaccgca
     2881 caaaccatca catctgagtc cgtgtcaaca acgacaacca cacacatcac caagactgta
     2941 aaaggtggaa tttctgaaac aagaattgag aaacgcattg tgatcacagg agatggagat
     3001 attgatcatg accaggcact ggctcaggcg atcagggaag ccagagagca gcaccctgac
     3061 atgtcggtca caagagtggt ggtacacaaa gaaacagagt tggctgagga aggggaagat
     3121 taagtaagaa agtcattttt taaacaacac tcaactttgt gaacccctga agattttttg
     3181 accgttccaa gtcttaatgc cacaccacta ttccagcgaa tttatgctac aactggtaac
     3241 aatgaccaga agcctgaaga attaaaatgc caacaccaaa cctttcctta ccagctctgg
     3301 tctatattgc tcccatgcat ttaatatatt attttgtttt ataaccactt ctaaatattc
     3361 tcagttcttt ctttttgttg ttgttaatta aggggttttg gttttgtttt ctgtttactt
     3421 tgtgtgcaac tacctgcttt taatgactca ctttgatcaa atgacagtga acaaagccag
     3481 cccaagctgg taaggtgctg ttcacttgaa caggtgctgt tgcgcagaaa ggaaactctg
     3541 tgactaattt agatagtggc tttccttctt ctggattctt ttcattgaat tctcacagta
     3601 aatatttacg gagttttcaa attgcagcaa atatactgta tgagaaaata ttaatacaga
     3661 ttaaaagcct ttcttacatc ttgaaaattt tctaatattt gagaatttca cagggatgtt
     3721 ttttatattg gacccttttg actttccagt cctgtgactt tctactttta gtagagagtc
     3781 agaatctctg gactggagaa taatgaagaa gttcactgac tgtgcactgt gcttagagac
     3841 cctgccgcac cacagtgcca atgcttgtca gacacatgcc cttcggcagc attccagaac
     3901 aggagggaag agaaagagaa aactttcttc ccttctacta aaagattcag gcagcttaaa
     3961 accttagtgc tttctttctt aacataccca catttcaatt ctttccatta tttgaacact
     4021 tgggtagaac tcttgctttg tattaaacct ctttgtctac acatgtaaaa cttacctttt
     4081 gttattgagc aggcctatct ctttcagata gttttatgat tcacacaggt ttgaggatgc
     4141 tggggagagg gggagggggc tgtggtggtg ttctgttggt tacaagaaag ttataccatt
     4201 taaagctggc accagagacc cgatagggac ttattaacta tattgaacat tttttccttt
     4261 gcctttgacc ctatgtatag ttacgatgcc agattagatt tatagcagcc tcaagttgta
     4321 ttaaatgata ttttgcttcc tgtaatacta ttataaaata aagtttgttt attctctaaa
//
