LOCUS       NM_016339               4243 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens Rap guanine nucleotide exchange factor like 1
            (RAPGEFL1), transcript variant 3, mRNA.
ACCESSION   NM_016339 XM_006721932
VERSION     NM_016339.6
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 4243)
  AUTHORS   Chen,Y., Yin,D., Li,L., Deng,Y.C. and Tian,W.
  TITLE     Screening aberrant methylation profile in esophageal squamous cell
            carcinoma for Kazakhs in Xinjiang area of China
  JOURNAL   Mol Biol Rep 42 (2), 457-464 (2015)
   PUBMED   25304811
REFERENCE   2  (bases 1 to 4243)
  AUTHORS   Takahashi,T., Matsuda,Y., Yamashita,S., Hattori,N., Kushima,R.,
            Lee,Y.C., Igaki,H., Tachimori,Y., Nagino,M. and Ushijima,T.
  TITLE     Estimation of the fraction of cancer cells in a tumor DNA sample
            using DNA methylation
  JOURNAL   PLoS One 8 (12), e82302 (2013)
   PUBMED   24312652
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4243)
  AUTHORS   Rebhun,J.F., Castro,A.F. and Quilliam,L.A.
  TITLE     Identification of guanine nucleotide exchange factors (GEFs) for
            the Rap1 GTPase. Regulation of MR-GEF by M-Ras-GTP interaction
  JOURNAL   J Biol Chem 275 (45), 34901-34908 (2000)
   PUBMED   10934204
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC068669.21, BC029956.1, BC115375.1 and BU620139.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_016339.5.
            
            Transcript Variant: This variant (3) encodes the longest isoform
            (3).
            
            Sequence Note: This RefSeq was created from transcript and genomic
            sequence data because no single transcript was available for the
            full length of the gene. The extent of this transcript is supported
            by transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803616.211032.1,
                                           SRR1803613.210962.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000620260.6/ ENSP00000479735.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AC068669.21        122441-122465
            26-1769             BC029956.1         1-1744
            1770-2877           BC115375.1         780-1887
            2878-3653           AC068669.21        139255-140030
            3654-4243           BU620139.1         25-614              c
FEATURES             Location/Qualifiers
     source          1..4243
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.1"
     gene            1..4243
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /note="Rap guanine nucleotide exchange factor like 1"
                     /db_xref="GeneID:51195"
                     /db_xref="HGNC:HGNC:17428"
     exon            1..912
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     CDS             393..2381
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /note="isoform 3 is encoded by transcript variant 3; Link
                     guanine nucleotide exchange factor II; rap guanine
                     nucleotide exchange factor-like 1; link GEFII; Rap guanine
                     nucleotide exchange factor (GEF)-like 1"
                     /codon_start=1
                     /product="rap guanine nucleotide exchange factor-like 1
                     isoform 3"
                     /protein_id="NP_057423.2"
                     /db_xref="CCDS:CCDS11363.2"
                     /db_xref="GeneID:51195"
                     /db_xref="HGNC:HGNC:17428"
                     /translation="MKPLEKFLKKQTSQLAGRTVAGGPGGGLGSCGGPGGGGGPGGGG
                     GPAGGQRSLQRRQSVSRLLLPAFLREPPAEPGLEPPPEEEGGEPAGVAEEPGSGGPCW
                     LQLEEVPGPGPLGGGGPLRSPSSYSSDELSPGEPLTSPPWAPLGAPERPEHLLNRVLE
                     RLAGGATRDSAASDILLDDIVLTHSLFLPTEKFLQELHQYFVRAGGMEGPEGLGRKQA
                     CLAMLLHFLDTYQGLLQEEEGAGHIIKDLYLLIMKDESLYQGLREDTLRLHQLVETVE
                     LKIPEENQPPSKQVKPLFRHFRRIDSCLQTRVAFRGSDEIFCRVYMPDHSYVTIRSRL
                     SASVQDILGSVTEKLQYSEEPAGREDSLILVAVSSSGEKVLLQPTEDCVFTALGINSH
                     LFACTRDSYEALVPLPEEIQVSPGDTEIHRVEPEDVANHLTAFHWELFRCVHELEFVD
                     YVFHGERGRRETANLELLLQRCSEVTHWVATEVLLCEAPGKRAQLLKKFIKIAALCKQ
                     NQDLLSFYAVVMGLDNAAVSRLRLTWEKLPGKFKNLFRKFENLTDPCRNHKSYREVIS
                     KMKPPVIPFVPLILKDLTFLHEGSKTLVDGLVNIEKLHSVAEKVRTIRKYRSRPLCLD
                     MEASPNHLQTKAYVRQFQVIDNQNLLFELSYKLEANSQ"
     exon            913..991
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            992..1127
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1128..1225
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1226..1338
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1339..1506
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1507..1604
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1727
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1728..1906
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1907..1997
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            1998..2048
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            2049..2136
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            2137..2201
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            2202..2256
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     exon            2257..4243
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4225..4230
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /note="hexamer: GATAAA"
     polyA_site      4243
                     /gene="RAPGEFL1"
                     /gene_synonym="Link-GEFII"
                     /note="major polyA site"
ORIGIN      
        1 ccttccccct cttcacggcc aggagcgcag ccgccgccgc cgccgccgcc gcgtcctctc
       61 agccttgcgc tccgcccgct gcctctgccg ccgcagcgca gagccgggcg caccggcccc
      121 gcagcctgcc cactcttcgg gccgcgtgcc ggctgcagcc ggcatggggg gttgctgaga
      181 gcgagcactc ctttcctctg gcacctcccc cggctactgg ccactggact ctggccagcg
      241 aggctcggcc cctctggccc ccagtctggc gcctggcacg gccctctact ctgctcctcc
      301 agctctgagc atcgtgtctt cgccgccccc cccgcccgcg cctgggatac ctgggtcccc
      361 cggcgacccc taggagaggg gcgggggggg gcatgaagcc gctggagaaa tttctgaaga
      421 agcagacgtc gcagctggcg ggccgaacgg tggcgggagg tcccggcggg ggtctgggga
      481 gctgcggtgg gcctggaggg ggtgggggac ccggcggggg cggcggtcca gccgggggac
      541 agcggtcgtt gcagcggcgt cagagcgtgt ctcgcctgct gctccccgct ttcctccggg
      601 agccccccgc cgagccgggg ctggagccgc cccctgagga ggaaggagga gagccggcgg
      661 gggtcgcgga ggagccgggc agcggggggc cctgctggct gcagctggag gaggtgccgg
      721 ggcccgggcc tctcggggga ggggggcccc tgcgctcccc ttcctcctac tcatctgacg
      781 agctgtcccc aggcgagccc ttgacttcgc cgccctgggc ccctctgggc gcccccgagc
      841 ggcccgagca tcttctgaac cgggttctgg agcggcttgc tggaggggct accagggaca
      901 gcgccgcctc agatatcctg ctggatgaca ttgtccttac ccattctctc ttcctcccga
      961 cggagaaatt tctgcaggag ctacaccagt actttgttcg ggcaggaggc atggagggcc
     1021 ctgaagggct gggccggaag caagcctgtc tagccatgct tctccatttc ttggacacct
     1081 accaggggct gcttcaagag gaagaggggg ccggccacat catcaaggat ctatacctgc
     1141 taattatgaa ggacgagtcc ctttaccagg gcctccgaga ggacactctg aggctgcacc
     1201 agctggtgga gacggtggaa ctaaagattc cagaggagaa ccagccaccc agcaagcagg
     1261 tgaagccact cttccgccac ttccgccgga tagactcctg tctgcagacc cgggtggcct
     1321 tccggggctc tgatgagatc ttctgccgtg tatacatgcc tgaccactct tatgtgacca
     1381 tacgcagccg cctttcagca tctgtgcagg acattctggg ctctgtgacg gagaaacttc
     1441 aatattcaga ggagcccgcg gggcgtgagg attccctcat cctggtagct gtgtcctcct
     1501 ctggagagaa ggtccttctc cagcccactg aggactgtgt tttcaccgca ctgggcatca
     1561 acagccacct gtttgcctgt actcgggaca gctatgaggc tctggtgccc ctccccgagg
     1621 agatccaggt ctcccctgga gacacagaga tccaccgagt ggagcctgag gacgttgcca
     1681 accacctaac tgccttccac tgggagctgt tccgatgtgt gcatgagctg gagttcgtgg
     1741 actacgtgtt ccacggggag cgcggccgcc gggagacggc caacttggag ctgctgctgc
     1801 agcgctgcag cgaggtcacg cactgggtgg ccaccgaagt gctgctctgc gaggccccgg
     1861 gcaagcgcgc gcagctgctc aagaagttca tcaagatcgc ggccctctgc aagcagaacc
     1921 aggacctgct gtctttctac gccgtggtca tggggctgga caacgccgct gtcagccgcc
     1981 ttcgactcac ctgggagaag ctgccaggga aattcaagaa cttgtttcgc aaatttgaga
     2041 acctgacgga cccctgcagg aaccacaaaa gctaccgaga agtgatctcc aaaatgaagc
     2101 cccctgtgat tcccttcgtg cctctgatcc tcaaagacct gactttcctg cacgaaggga
     2161 gtaagaccct tgtagatggt ttggtgaaca tcgagaagct gcattcagtg gccgaaaaag
     2221 tgaggacaat ccgcaaatac cggagccggc ccctttgcct ggacatggag gcatccccca
     2281 atcacctgca gaccaaggcc tatgtgcgcc agtttcaggt catcgacaac cagaacctcc
     2341 tcttcgagct ctcctacaag ctggaggcaa acagtcagtg agagtggagg ctccagtcag
     2401 acccgccaga tccttgggca cctggcactc aagcactttg cacgatgtct caaccaacat
     2461 ctgacatctt tcccgtggag caacttcctg ctccacggga aagaggtcga tggatttacc
     2521 cctggaccca taagtctgtt catcctgctg aagtcccctc cccattgctc cttcaagcca
     2581 aaactacact ttgctggttc ctgtcccctc tgagaaaggg gatagaaagc tccttcctct
     2641 atgtcctccc atcgagatct gttctgggga tggagcttcc aacttcctct tgcagcagga
     2701 aagaatgctg ctcacccttc tgtcttgcag agtgggattg tgggagggat tggcagcctt
     2761 cttctccacc acctgtccag cttcttcctg gtcagggctg ggacccccag gaatattatg
     2821 ttgccgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg tgtgtgtgtg
     2881 tgtcttcttt tagggagcag gagtgcatct ggtaattgag ggtggatgtt gtgtgtgctg
     2941 gggaggggtc cttctgtttg gtgctaccct tgtctactct gcccctggat ggtgcggggt
     3001 gctttctcca cccccacact ccctgctcag ctcctcgtgc tgccctgcat gcccaggctt
     3061 gtgagccaag ctgctttttg gggcagggag tagcagcagg tgggaggggt tacccatcag
     3121 cccttgcaag tcccccactc aggcctctgg aaggtccagg gatgggctct gatgagaggg
     3181 taaaagatgc tcagggaaac acaggcctca gctgcctaga ggaccctccc cctgccttgc
     3241 agtgggctcg ggtagagcag tatcaggagc tagggttgtc tgctgcccac actcctgctt
     3301 tttgggatat ctaactgcta aggagggagt tgacatcccc cttctggctc atgtgtctga
     3361 caccaacaac atggtctctg tccctctctc tttgactctc cctttgtcct ccccatagag
     3421 ctggggtggg gtggatccct atacctgggg caggcagccc caaagtgggg gagggggatg
     3481 gcagagactg taaaggcgcc actggactct ggcaaggcct ttattacctt tactcccctc
     3541 cctctcccat caccagcctc aaggcctgag gggtgcaggg gctcctggca gctactgggt
     3601 gaggtttcct ggcacagact cacccttctt tctggcacca cctctttccc ttttgaagag
     3661 acagcaacag ccgtagcaaa agcagctgct gctcctgcta tgagggtgta tatatttttt
     3721 acccaaagct ctggaattgt acatttattt tttaaaactc aaagagggaa agagccttgt
     3781 atcatatgtg aacattgtat cataggtaat gttgtacaga cccttttata cagtgatctg
     3841 tcttgttcct gcagcaaaaa tcctctatgg acataggagg tgctgtgtcc catgccctct
     3901 tgccctgaca gtgtcccatg ggcccccttc tgctccctgc cccctccctg ctactgctga
     3961 tgcactctcc tctccctgca gcccctggct tcccagcctt cctcctgacc ccttccaaca
     4021 gccttggaac tccagctgcc accaccctct gggtcggaca ctgggaccca ctggcccagt
     4081 cttggctgct gcttacccct agccttgatg cctgcccagg gacccccagc cccctcccgt
     4141 tgccctgcag ctttaacaga gtgaaccatg tgtattgtac aggcgcggtt gtcattgcag
     4201 aaaccgctgg gtggagaaga agccgataaa gtctatgaat caa
//
