LOCUS       NM_001017920             549 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens death associated protein like 1 (DAPL1), mRNA.
ACCESSION   NM_001017920 XM_043500
VERSION     NM_001017920.3
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 549)
  AUTHORS   Feng,Y.Y., Yang,Y., Wang,Y.Y., Bai,X.X., Hai,P. and Zhao,R.
  TITLE     [Hypomethylation of DAPL1 associated with prognosis of lung cancer
            patients with EGFR Del19 mutation]
  JOURNAL   Zhonghua Zhong Liu Za Zhi 43 (12), 1264-1268 (2021)
   PUBMED   34915634
  REMARK    GeneRIF: [Hypomethylation of DAPL1 associated with prognosis of
            lung cancer patients with EGFR Del19 mutation].
REFERENCE   2  (bases 1 to 549)
  AUTHORS   Lin,X., Li,H., Yang,T., Liu,X., Fan,F., Zhou,X. and Luo,Y.
  TITLE     Transcriptomics Analysis of Lens from Patients with Posterior
            Subcapsular Congenital Cataract
  JOURNAL   Genes (Basel) 12 (12), 1904 (2021)
   PUBMED   34946854
  REMARK    GeneRIF: Transcriptomics Analysis of Lens from Patients with
            Posterior Subcapsular Congenital Cataract.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 549)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 549)
  AUTHORS   Ma,X., Hua,J., Zheng,G., Li,F., Rao,C., Li,H., Wang,J., Pan,L. and
            Hou,L.
  TITLE     Regulation of cell proliferation in the retinal pigment epithelium:
            Differential regulation of the death-associated protein like-1
            DAPL1 by alternative MITF splice forms
  JOURNAL   Pigment Cell Melanoma Res 31 (3), 411-422 (2018)
   PUBMED   29171181
  REMARK    GeneRIF: human retinal pigment epithelium (RPE) cell lines that the
            pigment cell transcription factor MITF regulates RPE cell
            proliferation by upregulating DAPL1 expression.
REFERENCE   5  (bases 1 to 549)
  AUTHORS   Ma,X., Li,H., Wang,Y., Wang,J., Zheng,Q., Hua,J., Yang,J., Pan,L.,
            Lu,F., Qu,J. and Hou,L.
  TITLE     DAPL1, a susceptibility locus for age-related macular degeneration,
            acts as a novel suppressor of cell proliferation in the retinal
            pigment epithelium
  JOURNAL   Hum Mol Genet 26 (9), 1612-1621 (2017)
   PUBMED   28334846
  REMARK    GeneRIF: Authors show that DAPL1 is a novel regulator of RPE cell
            proliferation that is important for the maintenance of the RPE as a
            monolayer. The findings suggest that DAPL1 dysregulation may be
            involved in abnormal RPE-related proliferative diseases and
            corresponding retinal dysfunctions in humans.
REFERENCE   6  (bases 1 to 549)
  AUTHORS   Grassmann,F., Friedrich,U., Fauser,S., Schick,T., Milenkovic,A.,
            Schulz,H.L., von Strachwitz,C.N., Bettecken,T., Lichtner,P.,
            Meitinger,T., Arend,N., Wolf,A., Haritoglou,C., Rudolph,G.,
            Chakravarthy,U., Silvestri,G., McKay,G.J., Freitag-Wolf,S.,
            Krawczak,M., Smith,R.T., Merriam,J.C., Merriam,J.E., Allikmets,R.,
            Heid,I.M. and Weber,B.H.
  TITLE     A Candidate Gene Association Study Identifies DAPL1 as a
            Female-Specific Susceptibility Locus for Age-Related Macular
            Degeneration (AMD)
  JOURNAL   Neuromolecular Med 17 (2), 111-120 (2015)
   PUBMED   25680934
  REMARK    GeneRIF: DAPL1 plays a role in epithelial differentiation and may
            be involved in apoptotic processes thereby suggesting a possible
            novel pathway in AMD pathogenesis.
REFERENCE   7  (bases 1 to 549)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   8  (bases 1 to 549)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   9  (bases 1 to 549)
  AUTHORS   Wistow,G., Bernstein,S.L., Wyatt,M.K., Behal,A., Touchman,J.W.,
            Bouffard,G., Smith,D. and Peterson,K.
  TITLE     Expressed sequence tag analysis of adult human lens for the NEIBank
            Project: over 2000 non-redundant transcripts, novel genes and
            splice variants
  JOURNAL   Mol Vis 8, 171-184 (2002)
   PUBMED   12107413
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY324399.1, BC127683.1, CD675155.1, AC079877.5 and AF086541.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001017920.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY324399.1, BX117859.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000309950.8/ ENSP00000309538.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                AY324399.1         1-15
            16-430              BC127683.1         1-415
            431-488             CD675155.1         410-467
            489-489             AC079877.5         81645-81645
            490-544             AF086541.1         478-532
            545-549             AC079877.5         81701-81705
FEATURES             Location/Qualifiers
     source          1..549
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q24.1"
     gene            1..549
                     /gene="DAPL1"
                     /note="death associated protein like 1"
                     /db_xref="GeneID:92196"
                     /db_xref="HGNC:HGNC:21490"
     exon            1..114
                     /gene="DAPL1"
                     /inference="alignment:Splign:2.1.0"
     CDS             57..380
                     /gene="DAPL1"
                     /note="early epithelial differentiation-associated
                     protein"
                     /codon_start=1
                     /product="death-associated protein-like 1"
                     /protein_id="NP_001017920.2"
                     /db_xref="CCDS:CCDS33307.1"
                     /db_xref="GeneID:92196"
                     /db_xref="HGNC:HGNC:21490"
                     /translation="MANEVQDLLSPRKGGHPPAVKAGGMRISKKQEIGTLERHTKKTG
                     FEKTSAIANVAKIQTLDALNDALEKLNYKFPATVHMAHQKPTPALEKVVPLKRIYIIQ
                     QPRKC"
     exon            115..202
                     /gene="DAPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            203..263
                     /gene="DAPL1"
                     /inference="alignment:Splign:2.1.0"
     exon            264..549
                     /gene="DAPL1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      522..527
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DAPL1"
                     /note="hexamer: AATAAA"
     polyA_site      549
                     /gene="DAPL1"
                     /note="major polyA site"
ORIGIN      
        1 acagctggca ttcagcctcc agagcaccag cactggcact ggcactggca cacgctatgg
       61 caaatgaagt gcaagacctg ctctcccctc ggaaaggggg acatcctcct gcagtaaaag
      121 ctggaggaat gagaatttcc aaaaaacaag aaattggcac cttggaaaga cataccaaaa
      181 aaacaggatt cgagaaaaca agtgccattg caaatgttgc caaaatacag acactggatg
      241 ccctgaatga cgcactggag aagctcaact ataaatttcc agcaacagtg cacatggcgc
      301 atcaaaaacc cacacctgct ctggaaaagg ttgttccact gaaaaggatc tacattattc
      361 agcagcctcg aaaatgttaa gcctggattt aaaacacagc cgtctggcca gctgcctcga
      421 atatctgaca gcttagcaaa aagggccaaa gctttccata ggcgtgctgc acttgcttgg
      481 taaattaagc agcttttgta tcttcccctt tgactttagg taataaagca tccaaacttg
      541 taaatctga
//
