LOCUS       NM_022140               4670 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens erythrocyte membrane protein band 4.1 like 4A
            (EPB41L4A), transcript variant 2, mRNA.
ACCESSION   NM_022140
VERSION     NM_022140.5
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 4670)
  AUTHORS   Antoni,G., Oudot-Mellakh,T., Dimitromanolakis,A., Germain,M.,
            Cohen,W., Wells,P., Lathrop,M., Gagnon,F., Morange,P.E. and
            Tregouet,D.A.
  TITLE     Combined analysis of three genome-wide association studies on vWF
            and FVIII plasma levels
  JOURNAL   BMC Med Genet 12, 102 (2011)
   PUBMED   21810271
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4670)
  AUTHORS   Ishiguro,H., Furukawa,Y., Daigo,Y., Miyoshi,Y., Nagasawa,Y.,
            Nishiwaki,T., Kawasoe,T., Fujita,M., Satoh,S., Miwa,N., Fujii,Y.
            and Nakamura,Y.
  TITLE     Isolation and characterization of human NBL4, a gene involved in
            the beta-catenin/tcf signaling pathway
  JOURNAL   Jpn J Cancer Res 91 (6), 597-603 (2000)
   PUBMED   10874211
REFERENCE   3  (bases 1 to 4670)
  AUTHORS   Shimizu,K., Nagamachi,Y., Tani,M., Kimura,K., Shiroishi,T.,
            Wakana,S. and Yokota,J.
  TITLE     Molecular cloning of a novel NF2/ERM/4.1 superfamily gene, ehm2,
            that is expressed in high-metastatic K1735 murine melanoma cells
  JOURNAL   Genomics 65 (2), 113-120 (2000)
   PUBMED   10783258
REFERENCE   4  (bases 1 to 4670)
  AUTHORS   Takeuchi,K., Kawashima,A., Nagafuchi,A. and Tsukita,S.
  TITLE     Structural diversity of band 4.1 superfamily members
  JOURNAL   J Cell Sci 107 (Pt 7), 1921-1928 (1994)
   PUBMED   7983158
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC031042.1, AB030240.1,
            AA350575.1, AK096057.1, CB048933.1, BC114632.1, AC010261.5 and
            BC015441.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_022140.4.
            
            Summary: The protein encoded by this gene is a member of the band
            4.1 protein superfamily. Members of this superfamily are thought to
            play an important role in regulating interactions between the
            cytoskeleton and plasma membrane, and contain an amino terminal
            conserved domain that binds glycophorin C. This gene product is
            thought to be involved in the beta-catenin signaling pathway.
            [provided by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (2) lacks two consecutive exons at
            the 3' end, and includes an alternate 3' terminal exon, compared to
            variant 1. The encoded isoform (2) is shorter and has a distinct
            C-terminus, compared to isoform 1.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.132871.1,
                                           SRR1803616.89046.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000261486.6/ ENSP00000261486.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-792               BC031042.1         37-828
            793-1334            AB030240.1         558-1099
            1335-1345           AA350575.1         155-165
            1346-1624           AK096057.1         64-342
            1625-1977           CB048933.1         216-568
            1978-2126           AB030240.1         1806-1954
            2127-2127           BC114632.1         1989-1989
            2128-2287           AB030240.1         1956-2115
            2288-3867           AC010261.5         56655-58234
            3868-4670           BC015441.1         1-803
FEATURES             Location/Qualifiers
     source          1..4670
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q22.1-q22.2"
     gene            1..4670
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /note="erythrocyte membrane protein band 4.1 like 4A"
                     /db_xref="GeneID:64097"
                     /db_xref="HGNC:HGNC:13278"
                     /db_xref="MIM:612141"
     exon            1..337
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     CDS             239..2299
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     erythrocyte protein band 4.1-like 4; band 4.1-like protein
                     4A"
                     /codon_start=1
                     /product="band 4.1-like protein 4A isoform 2"
                     /protein_id="NP_071423.4"
                     /db_xref="CCDS:CCDS43350.1"
                     /db_xref="GeneID:64097"
                     /db_xref="HGNC:HGNC:13278"
                     /db_xref="MIM:612141"
                     /translation="MGCFCAVPEEFYCEVLLLDESKLTLTTQQQGIKKSTKGSVVLDH
                     VFHHVNLVEIDYFGLRYCDRSHQTYWLDPAKTLAEHKELINTGPPYTLYFGIKFYAED
                     PCKLKEEITRYQFFLQVKQDVLQGRLPCPVNTAAQLGAYAIQSELGDYDPYKHTAGYV
                     SEYRFVPDQKEELEEAIERIHKTLMGQIPSEAELNYLRTAKSLEMYGVDLHPVYGENK
                     SEYFLGLTPVGVVVYKNKKQVGKYFWPRITKVHFKETQFELRVLGKDCNETSFFFEAR
                     SKTACKHLWKCSVEHHTFFRMPENESNSLSRKLSKFGSIRYKHRYSGRTALQMSRDLS
                     IQLPRPDQNVTRSRSKTYPKRIAQTQPAESNSISRITANMENGENEGTIKIIAPSPVK
                     SFKKAKNENSPDTQRSKSHAPWEENGPQSGLYNSPSDRTKSPKFPYTRRRNPSCGSDN
                     DSVQPVRRRKAHNSGEDSDLKQRRRSRSRCNTSSGSESENSNREYRKKRNRIRQENDM
                     VDSAPQWEAVLRRQKEKNQADPNNRRSRHRSRSRSPDIQAKEELWKHIQKELVDPSGL
                     SEEQLKEIPYTKIETQGDPIRIRHSHSPRSYRQYRRSQCSDGERSVLSEVNSKTDLVP
                     PLPVTRSSDAQGSGDATVHQRRNGSKDSLMEEKPQTSTNNLAGKHTAKTIKTIQASRL
                     KTET"
     exon            338..442
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            443..494
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            495..573
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            574..671
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            672..792
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            793..880
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            881..969
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            970..1033
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1034..1125
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1203
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1204..1325
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1326..1416
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1417..1500
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1501..1614
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1615..1662
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1740
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..1860
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1861..1908
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1909..1977
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            1978..2088
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            2089..2170
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     exon            2171..4670
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4646..4651
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /note="hexamer: AATAAA"
     polyA_site      4670
                     /gene="EPB41L4A"
                     /gene_synonym="EPB41L4; NBL4"
                     /note="major polyA site"
ORIGIN      
        1 agttccgccg gcgcttcccc ggcggctccc gggcgctgac tctcccgggc ttttccgcct
       61 ttctcgctcc cgccccgccg ggcggttcgg cggccggtcc ccggaccccg ccgggagctg
      121 ctcgtctcac cctcgccacg gcgcggacaa taaattaatg catcgcgctt gagtggaggg
      181 ggcggctggg cgcctcggtg gtagctttct ctcctggctg gagacgacca caaccgacat
      241 gggctgtttc tgcgctgttc cggaagaatt ttactgcgaa gttttgctcc tggatgaatc
      301 caagttaacc cttaccaccc agcagcaggg catcaagaag tcaacgaaag gttccgttgt
      361 ccttgaccac gtattccatc acgtaaacct tgtggagata gattattttg ggctacgtta
      421 ctgtgacaga agccatcaga cgtattggct ggatcctgca aaaacccttg ctgaacacaa
      481 agaactgatc aacactggac ctccatatac tttgtatttt ggtattaaat tctatgctga
      541 agatccatgt aaacttaaag aagaaataac cagatatcag tttttcttgc aggtgaagca
      601 agatgtcctt cagggccgtc tgccctgtcc cgtcaacact gctgctcagc tgggagcgta
      661 tgccatccag tcggagcttg gagattatga cccatataaa catactgcag gatatgtatc
      721 tgagtaccgg tttgttcctg atcagaagga agaacttgaa gaagccatag aaaggattca
      781 taaaactcta atgggtcaga ttccttctga ggctgagctg aattacttga ggactgccaa
      841 atccctggag atgtatggcg ttgacctcca tcccgtctat ggagaaaaca agtctgagta
      901 tttcttagga ttaactccgg ttggtgttgt tgtgtacaag aataaaaagc aagtggggaa
      961 gtatttctgg cctcggatta caaaggttca cttcaaggag actcaatttg aactcagagt
     1021 actgggaaaa gattgtaacg aaacctcatt cttttttgaa gctcggagta aaactgcttg
     1081 caagcacctc tggaagtgca gtgtggaaca tcatacattt tttagaatgc cagaaaatga
     1141 atccaattca ctgtcaagaa aactcagcaa gtttggatcc atacgttata agcaccgcta
     1201 cagtggcagg acagctttgc aaatgagccg agatctttct attcagcttc cccggcctga
     1261 tcagaatgtg acaagaagtc gaagcaagac ttaccctaag cgaatagcac aaacacagcc
     1321 agctgaatca aacagcatca gtaggataac tgcaaacatg gaaaatggag aaaatgaagg
     1381 aacaattaaa attattgcac cttcaccagt aaaaagcttt aagaaagcaa agaatgaaaa
     1441 tagccctgat acccaaagaa gcaaatctca tgcaccgtgg gaagaaaatg gcccccagag
     1501 tggactctac aattctccca gtgatcgcac taagtcgcca aagttccctt acacgcgtcg
     1561 ccgaaacccc tcctgtggaa gtgacaatga ttctgtacag cctgtgagga ggaggaaagc
     1621 ccataacagt ggtgaagatt cagatcttaa gcaaaggagg aggtcacgtt cacgctgtaa
     1681 caccagcagt ggtagtgaat cagaaaattc taatagagaa taccggaaaa agagaaacag
     1741 aatacggcag gagaatgata tggttgattc agcgcctcag tgggaagctg tattaaggag
     1801 acaaaaggaa aaaaaccaag ccgaccccaa caacaggcga tccagacaca gatctcgttc
     1861 gagaagcccc gatatccaag caaaagaaga gttatggaag cacattcaaa aagaacttgt
     1921 ggatccatcc ggattgtccg aagaacaatt aaaagagatt ccatacacta aaatagagac
     1981 acaaggtgac ccaatccgca tcaggcattc tcattcgcca cgaagttacc gccagtatcg
     2041 caggtcccag tgttcagatg gggagcgatc agttctctcg gaagtgaatt caaaaacaga
     2101 tcttgtacca ccacttccgg tgacccgttc ttcggatgct cagggttctg gggatgctac
     2161 agttcatcag agaagaaatg ggtctaaaga tagcctgatg gaagaaaaac ctcagacatc
     2221 tacaaacaac ctggctggaa aacacacagc aaaaacaata aaaactatac aagcttcccg
     2281 cctcaagaca gagacttgat cctgatgaag ggtcaagggt aggggtggga aggttgtgtg
     2341 cgccactggt acttttgaaa ctgtgaaata ggtatcttaa ttcaaatctc agacctgcaa
     2401 gtatttcttc agcatgagaa aatacattat cttttgcttc tttttttttt tttttttgag
     2461 atgttatcac tctgtcgccc aggctggagt gcagcggcac cgtgtcagct caccgcagcc
     2521 tccacttact gggttaagcg attctcctgt ctcaggctcc cgagcagctg ggattacagg
     2581 cgtgcaccac aacacccggc taattctttt tgtattttta gtagagacag ggctttgcca
     2641 tgttggaggc tggtctcgaa ctcctgacct caagtgatcc gcctgcctca gcctcccaaa
     2701 gtgctgggat tataggccat ggtttaacta cagcacagtt gtgctgaagg acctttttgt
     2761 tttaactgga agaataagta ttttgtaaaa attcacttga taccacattt tcatttctgg
     2821 aacaggatag caatcattca tttctatctt gtgtctgtgt ccaccacaac caagaccaga
     2881 tgcatctgat gaacattctg gaattctgaa ctgcagctag cctgctgtgc aatagtacaa
     2941 gtgggaggac gtcttcccag ggctgggctg gttctcaact agtgcccaga tgcaaaagga
     3001 ctgaggcatc actttcagac tgcatatatt tttattcata taaagttctt tataatactt
     3061 tattttgtgg tgttaagttc caccagttat ttacaaatga tgtaaaaagc tttaagtgtt
     3121 gttaatttct aaagtgttct tgcgttttca gaagtgtaag tggatctcag ttgatctgtc
     3181 accccaaacc tcaaatgatc catccaccct gcttggccat ctaattcacc tgctctcccc
     3241 agtgactatt ttgtaccttt cctctccata gatgactttg caatctacag ggaaaatact
     3301 tatgcaggac atcttatatc tcccccttac cacgtacagt tctctccaca gctgccagca
     3361 gccctaacct ttttgtctct ccacctgtgc tttggatgct cttctcccag ccttttcagg
     3421 atctttgtct gtcctcctat attaatgtat tcaattattc tctcagctag atccttgcta
     3481 cttggtttta aatttaagac taagattaaa caaaactatc tttcacaacc acaaaccccc
     3541 tcccgccaag caactaagat tttcctctca ttctcagcca gttttcttgc aagcagtatc
     3601 tttagtcatt gccctcaatt catctaatcc ctatcttaag ctatctctaa catggatctt
     3661 tccctctact ccactaatat caatcactgt gttacttaat cccagggaga atttttagga
     3721 cattcttttg cttctttaat ataatcctat tttgctccta ccactgacca tcctttctgg
     3781 cttatcatgc tttaccttgc cattaattag tggagtttct caaacttcag accctaggcc
     3841 ctcttcctct accaccagca gatctcattt atacccatgg ccttaaggtt tatttctgta
     3901 gtttagacta ctgagtaatg tgctactgca aaaagaccat ttgggtttct caaaggtaat
     3961 ttaaaaattc agctgtttaa atgctgctcc ccagctgaat ctagggtcat tatgctcatc
     4021 agtgtgcaag ctggacacct agcagttatg gacacctcca ctattaccac gtctagttgg
     4081 ctctgtcatc caactataaa cgatcttatt tcactaattt tactagtcca agctggtctc
     4141 ttgtctagac aacaataagc aacctagttc aactaccttt tcttgcaaat ctgattttcc
     4201 accatggatt tatcttgctt taataaagcc agagggagcc tgaagtggtc tggcttcttt
     4261 acctacctct tcagcctcat tttgtaacac tctcacctcc cataatagcc atcttacaag
     4321 cctcagtaag gactcagttc taaaacaggg cactgaagag ggaaagcagc caaaactgtc
     4381 tcaaaagtaa gtggactaac ggtatctttt ttctagccca agcctctgta tatgtcattc
     4441 ccccagtttt gccttgtgaa aaatatgaca cataccttta gtctcaactc tttctcaggt
     4501 ttccctaaga aaatcctatc acggaactca tctcatagtg aagttttaca tttgtgatga
     4561 cattccctcc acttatctat gtttccaaag ggaagaactg tgttgtgctc atcatcgtgt
     4621 tctcagctcc tagtacagtg ctttcaataa attttttgaa tacctctata
//
