LOCUS       NM_004429               3303 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens ephrin B1 (EFNB1), mRNA.
ACCESSION   NM_004429
VERSION     NM_004429.5
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 3303)
  AUTHORS   Xiang,C., Wu,J. and Yu,L.
  TITLE     Construction of three-gene-based prognostic signature and analysis
            of immune cells infiltration in children and young adults with
            B-acute lymphoblastic leukemia
  JOURNAL   Mol Genet Genomic Med 10 (7), e1964 (2022)
   PUBMED   35603962
  REMARK    GeneRIF: Construction of three-gene-based prognostic signature and
            analysis of immune cells infiltration in children and young adults
            with B-acute lymphoblastic leukemia.
REFERENCE   2  (bases 1 to 3303)
  AUTHORS   Zhang,H., Cui,Z., Cheng,D., Du,Y., Guo,X., Gao,R., Chen,J., Sun,W.,
            He,R., Ma,X., Peng,Q., Martin,B.N., Yan,W., Rong,Y. and Wang,C.
  TITLE     RNF186 regulates EFNB1 (ephrin B1)-EPHB2-induced autophagy in the
            colonic epithelial cells for the maintenance of intestinal
            homeostasis
  JOURNAL   Autophagy 17 (10), 3030-3047 (2021)
   PUBMED   33280498
REFERENCE   3  (bases 1 to 3303)
  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   4  (bases 1 to 3303)
  AUTHORS   Jin,F., Zhao,L., Hu,Q. and Qi,F.
  TITLE     Peripheral EphrinB1/EphB1 signalling attenuates muscle hyperalgesia
            in MPS patients and a rat model of taut band-associated persistent
            muscle pain
  JOURNAL   Mol Pain 16, 1744806920984079 (2020)
   PUBMED   33356837
  REMARK    GeneRIF: Peripheral EphrinB1/EphB1 signalling attenuates muscle
            hyperalgesia in MPS patients and a rat model of taut
            band-associated persistent muscle pain.
REFERENCE   5  (bases 1 to 3303)
  AUTHORS   Twigg,S.R., Babbs,C., van den Elzen,M.E., Goriely,A., Taylor,S.,
            McGowan,S.J., Giannoulatou,E., Lonie,L., Ragoussis,J., Sadighi
            Akha,E., Knight,S.J., Zechi-Ceide,R.M., Hoogeboom,J.A., Pober,B.R.,
            Toriello,H.V., Wall,S.A., Rita Passos-Bueno,M., Brunner,H.G.,
            Mathijssen,I.M. and Wilkie,A.O.
  TITLE     Cellular interference in craniofrontonasal syndrome: males mosaic
            for mutations in the X-linked EFNB1 gene are more severely affected
            than true hemizygotes
  JOURNAL   Hum Mol Genet 22 (8), 1654-1662 (2013)
   PUBMED   23335590
  REMARK    GeneRIF: we report the identification of mosaic EFNB1 mutations in
            every individual with craniofrontonasal syndrome, confirming the
            suggested diagnosis and supporting the hypothesis of cellular
            interference in humans.
REFERENCE   6  (bases 1 to 3303)
  AUTHORS   Cerretti,D.P., Lyman,S.D., Kozlosky,C.J., Copeland,N.G.,
            Gilbert,D.J., Jenkins,N.A., Valentine,V., Kirstein,M.N.,
            Shapiro,D.N. and Morris,S.W.
  TITLE     The genes encoding the eph-related receptor tyrosine kinase ligands
            LERK-1 (EPLG1, Epl1), LERK-3 (EPLG3, Epl3), and LERK-4 (EPLG4,
            Epl4) are clustered on human chromosome 1 and mouse chromosome 3
  JOURNAL   Genomics 33 (2), 277-282 (1996)
   PUBMED   8660976
REFERENCE   7  (bases 1 to 3303)
  AUTHORS   Fletcher,F.A., Huebner,K., Shaffer,L.G., Fairweather,N.D.,
            Monaco,A.P., Muller,U., Druck,T., Simoneaux,D.K., Chelly,J.,
            Belmont,J.W. et al.
  TITLE     Assignment of the gene (EPLG2) encoding a high-affinity binding
            protein for the receptor tyrosine kinase elk to a 200-kilobasepair
            region in human chromosome Xq12
  JOURNAL   Genomics 25 (1), 334-335 (1995)
   PUBMED   7774950
REFERENCE   8  (bases 1 to 3303)
  AUTHORS   Davis,S., Gale,N.W., Aldrich,T.H., Maisonpierre,P.C., Lhotak,V.,
            Pawson,T., Goldfarb,M. and Yancopoulos,G.D.
  TITLE     Ligands for EPH-related receptor tyrosine kinases that require
            membrane attachment or clustering for activity
  JOURNAL   Science 266 (5186), 816-819 (1994)
   PUBMED   7973638
REFERENCE   9  (bases 1 to 3303)
  AUTHORS   Beckmann,M.P., Cerretti,D.P., Baum,P., Vanden Bos,T., James,L.,
            Farrah,T., Kozlosky,C., Hollingsworth,T., Shilling,H.,
            Maraskovsky,E. et al.
  TITLE     Molecular characterization of a family of ligands for eph-related
            tyrosine kinase receptors
  JOURNAL   EMBO J 13 (16), 3757-3762 (1994)
   PUBMED   8070404
REFERENCE   10 (bases 1 to 3303)
  AUTHORS   Longoni,M., Pober,B.R. and High,F.A.
  TITLE     Congenital Diaphragmatic Hernia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301533
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC016649.1, CB132233.1 and
            BM972960.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 27, 2020 this sequence version replaced NM_004429.4.
            
            Summary: The protein encoded by this gene is a type I membrane
            protein and a ligand of Eph-related receptor tyrosine kinases. It
            may play a role in cell adhesion and function in the development or
            maintenance of the nervous system. [provided by RefSeq, Jul 2008].
            
            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 :: BC016649.1, U09303.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000204961.5/ ENSP00000204961.4
            RefSeq Select criteria :: based on single protein-coding transcript
            regulatory uORF        :: PMID: 23335590
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2528              BC016649.1         25-2552
            2529-2616           CB132233.1         340-427
            2617-3290           BC016649.1         2639-3312
            3291-3303           BM972960.1         18-30               c
FEATURES             Location/Qualifiers
     source          1..3303
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..3303
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /note="ephrin B1"
                     /db_xref="GeneID:1947"
                     /db_xref="HGNC:HGNC:3226"
                     /db_xref="MIM:300035"
     exon            1..884
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      653..664
                     /regulatory_class="uORF"
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /experiment="DESCRIPTION:regulatory uORF[PMID:23335590]"
                     /note="this uORF is predicted to encode a 3 aa peptide
                     (PMID:23335590)"
     CDS             757..1797
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /note="ELK ligand; eph-related receptor tyrosine kinase
                     ligand 2"
                     /codon_start=1
                     /product="ephrin-B1 precursor"
                     /protein_id="NP_004420.1"
                     /db_xref="CCDS:CCDS14391.1"
                     /db_xref="GeneID:1947"
                     /db_xref="HGNC:HGNC:3226"
                     /db_xref="MIM:300035"
                     /translation="MARPGQRWLGKWLVAMVVWALCRLATPLAKNLEPVSWSSLNPKF
                     LSGKGLVIYPKIGDKLDIICPRAEAGRPYEYYKLYLVRPEQAAACSTVLDPNVLVTCN
                     RPEQEIRFTIKFQEFSPNYMGLEFKKHHDYYITSTSNGSLEGLENREGGVCRTRTMKI
                     IMKVGQDPNAVTPEQLTTSRPSKEADNTVKMATQAPGSRGSLGDSDGKHETVNQEEKS
                     GPGASGGSSGDPDGFFNSKVALFAAVGAGCVIFLLIIIFLTVLLLKLRKRHRKHTQQR
                     AAALSLSTLASPKGGSGTAGTEPSDIIIPLRTTENNYCPHYEKVSGDYGHPVYIVQEM
                     PPQSPANIYYKV"
     exon            885..1162
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1163..1255
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1256..1384
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..3303
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3225..3230
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /note="hexamer: TATAAA"
     polyA_site      3242
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /note="major polyA site"
     regulatory      3276..3281
                     /regulatory_class="polyA_signal_sequence"
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /note="hexamer: ACTAAA"
     polyA_site      3303
                     /gene="EFNB1"
                     /gene_synonym="CFND; CFNS; EFB1; EFL3; Elk-L; EPLG2;
                     LERK2"
                     /note="major polyA site"
ORIGIN      
        1 atgcgagctg gacagcagtg ggaggtttgt gaggctcgca ctggccgcag accctcgggc
       61 tcgatcgccc gggagccagg actcggcgac gcgaggctgc cgggctaccc ggccgaggct
      121 tcgggggcgc aaactaatgg gactggctcg ctcggcagca tctccccgct cttctaagta
      181 cactgagcag ggcccgcgct gaagtagaag ctgtccgggg gcgcgtagcc cggagtccca
      241 gtgtggcccg gaggaacgga gcccgtgcca gggcggccca gtcgggagcc cggggaccga
      301 gcttgtgctg tggggaaacc cccacttctt ccaagggaca gcgatcccgg gacggtcgag
      361 gcgtcggggc ggtcaccgag acctctgcgg gaagaccccg tcggggagag ggcgcgcagc
      421 cccgaagcgt ctcgggaagt cgagcggaat cgggcgggat cacccggggg cgcagagccc
      481 ccgtcgcgcc tcgtgcggca gcggagagcc caggagaacg agccctcggg ggccgaagcc
      541 catgcccggg ttgggggcgg ctgcccagtg agtcctcctg gccggccggg cggagaagag
      601 cgacaccgaa gccggcggga ggggagcact tcaaggccgg cggctgcgga ggatgggcgc
      661 ctgagcggct ccgagcgcag cgcggcagag gaaggcgagg cgagctttgg tgaggaggcg
      721 ccaagggatc ccgaagtgca gtctgccccc gggaagatgg ctcggcctgg gcagcgttgg
      781 ctcggcaagt ggcttgtggc gatggtcgtg tgggcgctgt gccggctcgc cacaccgctg
      841 gccaagaacc tggagcccgt atcctggagc tccctcaacc ccaagttcct gagtgggaag
      901 ggcttggtga tctatccgaa aattggagac aagctggaca tcatctgccc ccgagcagaa
      961 gcagggcggc cctatgagta ctacaagctg tacctggtgc ggcctgagca ggcagctgcc
     1021 tgtagcacag ttctcgaccc caacgtgttg gtcacctgca ataggccaga gcaggaaata
     1081 cgctttacca tcaagttcca ggagttcagc cccaactaca tgggcctgga gttcaagaag
     1141 caccatgatt actacattac ctcaacatcc aatggaagcc tggaggggct ggaaaaccgg
     1201 gagggcggtg tgtgccgcac acgcaccatg aagatcatca tgaaggttgg gcaagatccc
     1261 aatgctgtga cgcctgagca gctgactacc agcaggccca gcaaggaggc agacaacact
     1321 gtcaagatgg ccacacaggc ccctggtagt cggggctccc tgggtgactc tgatggcaag
     1381 catgagactg tgaaccagga agagaagagt ggcccaggtg caagtggggg cagcagcggg
     1441 gaccctgatg gcttcttcaa ctccaaggtg gcattgttcg cggctgtcgg tgccggttgc
     1501 gtcatcttcc tgctcatcat catcttcctg acggtcctac tactgaagct acgcaagcgg
     1561 caccgcaagc acacacagca gcgggcggct gccctctcgc tcagtaccct ggccagtccc
     1621 aaggggggca gtggcacagc gggcaccgag cccagcgaca tcatcattcc cttacggact
     1681 acagagaaca actactgccc ccactatgag aaggtgagtg gggactacgg gcaccctgtc
     1741 tacatcgtcc aagagatgcc gccccagagc ccggcgaaca tctactacaa ggtctgagtg
     1801 cccggcacgg cctcaggccc ccgagggaca gtcggcctgg accggacctc tcctttcgcc
     1861 cccacacccc ctccccttgc cagctgtgcc cacctttgta tttagttttg tagtttcttg
     1921 gcttttataa tccccctttt tccctgcccc ctgggcttcg gaggggggtg cttgtgcccc
     1981 taacccccat gctcttgtgc cttccccctc tggccaggcc tctgggctcc gtgggggcgc
     2041 cccttcttgg aaggcagggc tggacactga tggacagcag gcagggagac agtcccctgg
     2101 ccctgcccct ccctcgcccc ccttgccacc ttcccaggac tgcttgtccg ctatcatcac
     2161 tgtttttaat gcttttgtgt tcatttttta gctgtcaact cattttcatc tgttttttga
     2221 agaaaaatgg aaaaatgtaa aaggcagccc ctccccaggc tttgtgagcc tggcccaagc
     2281 cagtacaaga gggcctgggg cacgatgtgg tcagccagga agcataggat gccatttctt
     2341 ttatagattc cttggtattt ctggtggggt aaggggcagg ccagggctgt tcacgcccat
     2401 gagggaagag gaaagtgcca ctgggcaagg tgtcccaccc tcccctcctg accctcctac
     2461 gaggcttatc ctggcaatgg ggtagtcact gccacccttc cacacacaca cacacacaca
     2521 cacacacaaa aaaaaatccc ttccttgtgg gattcttggg catctcctgc ctccctcact
     2581 ctcacggtaa ttaatgtctt aattggctgt tgcctgggga acaggagagc tgctgcaggc
     2641 agatgacctc atggggggtg gagggaggtg aggtgcccag gtggctattt gccctgcaga
     2701 gctgggagtt tcacccccac cccccaccct gttctctcct tacctttggc atcctttggc
     2761 ctggtgggga aacagaggcc cagggtggag acctaagcgg gtataagacc aggtggcctg
     2821 ctccttttct gggccctagc acaggtgggt aacccccacc caacccagct cctgctgctg
     2881 tcccagtctt gggctggggc ctggaaagag gaagaggctg cctggggctg ggccagcccg
     2941 ctgtgcactt tgaccccagt tccttgccag cacggctgct aacagactgc cacttgagtg
     3001 cgccttgcag gcactcccag agcagccatg gaaggagctg gccctcacac catccacctc
     3061 cacactgcct cctggccagc tgcccacccc agtgccaggt gggagaggga gcagaacagc
     3121 cagccccttc caggtggcag tcggaagggt ttttgttttt gtttctgttg ccatttgtgt
     3181 aaatactagt ctttttggaa aaaaaataat gtaaagatgt tttgtataaa ctctgaatta
     3241 ttttcttgtt gcttttttct tagaaaaaaa tgagaactaa aaaaaaaaaa ttaaccacat
     3301 gga
//
