LOCUS       NM_152316               2373 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens ARF like GTPase 14 effector protein (ARL14EP), mRNA.
ACCESSION   NM_152316
VERSION     NM_152316.3
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 2373)
  AUTHORS   Mahana,Y., Ariyoshi,M., Nozawa,R.S., Shibata,S., Nagao,K., Obuse,C.
            and Shirakawa,M.
  TITLE     Structural evidence for protein-protein interaction between the
            non-canonical methyl-CpG-binding domain of SETDB proteins and
            C11orf46
  JOURNAL   Structure 32 (3), 304-315 (2024)
   PUBMED   38159574
  REMARK    GeneRIF: Structural evidence for protein-protein interaction
            between the non-canonical methyl-CpG-binding domain of SETDB
            proteins and C11orf46.
REFERENCE   2  (bases 1 to 2373)
  AUTHORS   Lyle,S.M., Ahmed,S., Elliott,J.E., Stener-Victorin,E.,
            Nachtigal,M.W. and Drogemoller,B.I.
  TITLE     Transcriptome-wide association analyses identify an association
            between ARL14EP and polycystic ovary syndrome
  JOURNAL   J Hum Genet 68 (5), 347-353 (2023)
   PUBMED   36720993
  REMARK    GeneRIF: Transcriptome-wide association analyses identify an
            association between ARL14EP and polycystic ovary syndrome.
REFERENCE   3  (bases 1 to 2373)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   4  (bases 1 to 2373)
  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 2373)
  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   6  (bases 1 to 2373)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2373)
  AUTHORS   Peter,C.J., Saito,A., Hasegawa,Y., Tanaka,Y., Nagpal,M., Perez,G.,
            Alway,E., Espeso-Gil,S., Fayyad,T., Ratner,C., Dincer,A., Gupta,A.,
            Devi,L., Pappas,J.G., Lalonde,F.M., Butman,J.A., Han,J.C.,
            Akbarian,S. and Kamiya,A.
  TITLE     In vivo epigenetic editing of Sema6a promoter reverses
            transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene
  JOURNAL   Nat Commun 10 (1), 4112 (2019)
   PUBMED   31511512
  REMARK    GeneRIF: RNA-guided epigenetic editing of Sema6a gene promoters via
            a dCas9-SunTag system with C11orf46 binding normalized SEMA6A
            expression and rescued transcallosal dysconnectivity via repressive
            chromatin remodeling by the SETDB1 repressor complex.
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2373)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Paulo,J.A., Cannon,J.R., Ting,L.,
            Baltier,K., Colby,G., Gebreab,F., Gygi,M.P., Parzen,H., Szpyt,J.,
            Tam,S., Zarraga,G., Pontano-Vaites,L., Swarup,S., White,A.E.,
            Schweppe,D.K., Rad,R., Erickson,B.K., Obar,R.A., Guruharsha,K.G.,
            Li,K., Artavanis-Tsakonas,S., Gygi,S.P. and Harper,J.W.
  TITLE     Architecture of the human interactome defines protein communities
            and disease networks
  JOURNAL   Nature 545 (7655), 505-509 (2017)
   PUBMED   28514442
REFERENCE   9  (bases 1 to 2373)
  AUTHORS   Paul,P., van den Hoorn,T., Jongsma,M.L., Bakker,M.J., Hengeveld,R.,
            Janssen,L., Cresswell,P., Egan,D.A., van Ham,M., Ten Brinke,A.,
            Ovaa,H., Beijersbergen,R.L., Kuijl,C. and Neefjes,J.
  TITLE     A Genome-wide multidimensional RNAi screen reveals pathways
            controlling MHC class II antigen presentation
  JOURNAL   Cell 145 (2), 268-283 (2011)
   PUBMED   21458045
REFERENCE   10 (bases 1 to 2373)
  AUTHORS   Gawin,B., Niederfuhr,A., Schumacher,N., Hummerich,H., Little,P.F.
            and Gessler,M.
  TITLE     A 7.5 Mb sequence-ready PAC contig and gene expression map of human
            chromosome 11p13-p14.1
  JOURNAL   Genome Res 9 (11), 1074-1086 (1999)
   PUBMED   10568747
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK096287.1, BX647617.1,
            AV714521.1 and BM674118.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_152316.2.
            
            Summary: The protein encoded by this gene is an effector protein.
            It interacts with ADP-ribosylation factor-like 14 [ARL14, also
            known as ADP-ribosylation factor 7 (ARF7)], beta-actin (ACTB) and
            actin-based motor protein myosin 1E (MYO1E). ARL14 is a small
            GTPase; it controls the export of major histocompatibility class II
            molecules by connecting to the actin network via this effector
            protein. [provided by RefSeq, Sep 2014].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660805.88488.1,
                                           SRR1803611.25642.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000282032.4/ ENSP00000282032.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1768              AK096287.1         3-1770
            1769-1796           BX647617.1         1768-1795
            1797-2160           BX647617.1         1797-2160
            2161-2259           AV714521.1         428-526
            2260-2341           BX647617.1         2260-2341
            2342-2373           BM674118.1         18-49               c
FEATURES             Location/Qualifiers
     source          1..2373
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.1"
     gene            1..2373
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /note="ARF like GTPase 14 effector protein"
                     /db_xref="GeneID:120534"
                     /db_xref="HGNC:HGNC:26798"
                     /db_xref="MIM:612295"
     exon            1..99
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /inference="alignment:Splign:2.1.0"
     exon            100..588
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             163..945
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /note="ARF7 effector protein; ADP-ribosylation factor-like
                     14 effector protein; ADP ribosylation factor like GTPase
                     14 effector protein"
                     /codon_start=1
                     /product="ARL14 effector protein"
                     /protein_id="NP_689529.1"
                     /db_xref="CCDS:CCDS7869.1"
                     /db_xref="GeneID:120534"
                     /db_xref="HGNC:HGNC:26798"
                     /db_xref="MIM:612295"
                     /translation="MMDPCSVGVQLRTTNECHKTYYTRHTGFKTLQELSSNDMLLLQL
                     RTGMTLSGNNTICFHHVKIYIDRFEDLQKSCCDPFNIHKKLAKKNLHVIDLDDATFLS
                     AKFGRQLVPGWKLCPKCTQIINGSVDVDTEDRQKRKPESDGRTAKALRSLQFTNPGRQ
                     TEFAPETGKREKRRLTKNATAGSDRQVIPAKSKVYDSQGLLIFSGMDLCDCLDEDCLG
                     CFYACPACGSTKCGAECRCDRKWLYEQIEIEGGEIIHNKHAG"
     exon            589..716
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /inference="alignment:Splign:2.1.0"
     exon            717..2373
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      928..933
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /note="hexamer: AATAAA"
     polyA_site      959
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /note="major polyA site"
     regulatory      2353..2358
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
                     /note="hexamer: AATAAA"
     polyA_site      2373
                     /gene="ARL14EP"
                     /gene_synonym="ARF7EP; C11orf46; dJ299F11.1"
ORIGIN      
        1 agtggtagcg cggggactgg ctgggaagcg gtcggtcgag tgtggcctgt gtggactcgc
       61 atcttgcccg aagccgggcg gaggagagct caagctaagg gtgatcagcc catgacctaa
      121 acctccagac aaaataaaac ggaaaatttg ctagaatcaa gaatgatgga tccatgttca
      181 gttggagtcc agcttcgtac tacaaatgag tgccataaaa cctactatac tcgtcacaca
      241 ggttttaaga ctttgcaaga attgtcatca aatgatatgc ttttacttca acttagaact
      301 ggaatgacac tttctgggaa caatacaatt tgctttcatc atgtaaaaat ttacattgac
      361 agatttgagg atttacagaa gtcatgttgt gacccattta acatacacaa gaaattagcc
      421 aaaaaaaatt tgcatgtaat tgacttagat gatgccactt ttctgagtgc taaatttgga
      481 agacagcttg tacctggttg gaagctttgt ccaaaatgca cacagataat caatggaagt
      541 gtggatgttg atactgaaga ccgccagaaa aggaaacctg agtcagatgg aagaactgct
      601 aaagctttga ggtcattaca atttacgaat ccaggaaggc aaactgaatt tgctccagaa
      661 actggtaaaa gagaaaaaag aaggcttaca aaaaatgcaa ccgctggttc agacagacaa
      721 gtgataccag caaagagtaa ggtctatgat agccagggtc tcctgatttt tagtgggatg
      781 gacctctgtg actgcctgga tgaagactgc ttaggatgtt tctatgcttg tcctgcctgt
      841 ggttctacca agtgtggagc tgaatgccgc tgtgaccgca agtggctgta tgagcaaatt
      901 gaaattgaag gaggagaaat aattcataat aaacatgctg gataatctgc ggtaccaaac
      961 tatggagcct ttaaaggtct ttatttctaa aaatctgtta ctctaagata cattttaagc
     1021 ttgattatca tatgacaaag attttaaaac catctcagtg tgccctaatt tttcatcttg
     1081 ggtgctttaa gattcactat ttgatataaa ttcagatagg ctatttttca gtagtcagcg
     1141 ttaagcctgt ctggatcaat ataaacaagt agggtgtagg cagtcctcta tttgcatgtt
     1201 tcccatgggc acaaatttca gtgacctaga tttagtttaa ataccagttt ccttaccagg
     1261 aaggaaagaa aactggtaag gaaactgttg ttgttaaaat ctaggttaaa attttagtta
     1321 gcacattgta actgagtaat tacatgaagt acaaacctct ctgctagctc ttcagtctac
     1381 aaatcgctat gtaaataaca gatatgcttc atgattgtga ccagtcatgt tatttctttc
     1441 aaattcttcc agtggtttgt ccctgtgcat ctgttaattc agttcacgta cagcagagca
     1501 tgtagttatg ctgtctctct gtcatctact tgacattcta tagaagtgaa cactcgaaag
     1561 aactggtcaa caaagatgaa agtgcagcaa agcaatgaaa aatgataaca ctggaagtga
     1621 aattttaatc aaacataaat gaatttgtag aagaagtcac tgaccatggg aatgttgttc
     1681 ttgctgctgt gtattcatag gagcttagtg aaggcaaact taccaacaca aataagcaaa
     1741 gtggttgcaa taaagacaga tacgtcccag aggaagtgat ggttaaaaaa aaaaaacttt
     1801 acattaaaag atatttaatg tgaatataga aatatttcac aacattgaaa gcacaagcaa
     1861 taaaagggtg gaagctgacc caaacttaga aggagtatgg cagtttgccg tgaacataaa
     1921 agatgcttac tcagtatggt aagttacttg ccagaaaaaa aggcaagccc tattcaaact
     1981 actttgtttt tacaatgaaa taaaacactt taattctatt tctaatgttt taaattacag
     2041 tgtactaaat atttttaaac atttttgcat ttttttctac atttataact ggtcttaaga
     2101 gtttttaata tttgagcaga accttaaagg tcatggaaca atcatcattt tccctattga
     2161 ttattaagat tgcaggacca tttttatggt cccacagtac catgtgaaat gaggatcgct
     2221 tgtagctggg aacagtgctt acttcaggga aaactgattt tgatagaacc gactagttga
     2281 gtattaaact gttttggaaa taatttatat atctaagtgc tgaaatatat ttctcttctc
     2341 cccacttatt caaataaaaa agttttaata cta
//
