LOCUS       NM_001369863            2378 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens BEN domain containing 7 (BEND7), transcript variant 3,
            mRNA.
ACCESSION   NM_001369863
VERSION     NM_001369863.1
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 2378)
  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   2  (bases 1 to 2378)
  AUTHORS   Hernandez-Pacheco,N., Flores,C., Alonso,S., Eng,C., Mak,A.C.,
            Hunstman,S., Hu,D., White,M.J., Oh,S.S., Meade,K., Farber,H.J.,
            Avila,P.C., Serebrisky,D., Thyne,S.M., Brigino-Buenaventura,E.,
            Rodriguez-Cintron,W., Sen,S., Kumar,R., Lenoir,M.,
            Rodriguez-Santana,J.R., Burchard,E.G. and Pino-Yanes,M.
  TITLE     Identification of a novel locus associated with skin colour in
            African-admixed populations
  JOURNAL   Sci Rep 7, 44548 (2017)
   PUBMED   28300201
  REMARK    GeneRIF: These results validated the association of two previously
            known skin pigmentation genes, SLC24A5 (minimum p = 2.62 x 10(-14),
            rs1426654) and SLC45A2 (minimum p = 9.71 x 10(-10), rs16891982),
            and revealed the intergenic region of BEND7 and PRPF18 as a novel
            locus associated with this trait (minimum p = 4.58 x 10(-9),
            rs6602666).
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2378)
  AUTHORS   Yachie,N., Petsalaki,E., Mellor,J.C., Weile,J., Jacob,Y., Verby,M.,
            Ozturk,S.B., Li,S., Cote,A.G., Mosca,R., Knapp,J.J., Ko,M., Yu,A.,
            Gebbia,M., Sahni,N., Yi,S., Tyagi,T., Sheykhkarimli,D., Roth,J.F.,
            Wong,C., Musa,L., Snider,J., Liu,Y.C., Yu,H., Braun,P.,
            Stagljar,I., Hao,T., Calderwood,M.A., Pelletier,L., Aloy,P.,
            Hill,D.E., Vidal,M. and Roth,F.P.
  TITLE     Pooled-matrix protein interaction screens using Barcode Fusion
            Genetics
  JOURNAL   Mol Syst Biol 12 (4), 863 (2016)
   PUBMED   27107012
  REMARK    Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2378)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 2378)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   6  (bases 1 to 2378)
  AUTHORS   Lauc,G., Huffman,J.E., Pucic,M., Zgaga,L., Adamczyk,B., Muzinic,A.,
            Novokmet,M., Polasek,O., Gornik,O., Kristic,J., Keser,T.,
            Vitart,V., Scheijen,B., Uh,H.W., Molokhia,M., Patrick,A.L.,
            McKeigue,P., Kolcic,I., Lukic,I.K., Swann,O., van Leeuwen,F.N.,
            Ruhaak,L.R., Houwing-Duistermaat,J.J., Slagboom,P.E., Beekman,M.,
            de Craen,A.J., Deelder,A.M., Zeng,Q., Wang,W., Hastie,N.D.,
            Gyllensten,U., Wilson,J.F., Wuhrer,M., Wright,A.F., Rudd,P.M.,
            Hayward,C., Aulchenko,Y., Campbell,H. and Rudan,I.
  TITLE     Loci associated with N-glycosylation of human immunoglobulin G show
            pleiotropy with autoimmune diseases and haematological cancers
  JOURNAL   PLoS Genet 9 (1), e1003225 (2013)
   PUBMED   23382691
REFERENCE   7  (bases 1 to 2378)
  AUTHORS   Gonzales,P.A., Pisitkun,T., Hoffert,J.D., Tchapyjnikov,D.,
            Star,R.A., Kleta,R., Wang,N.S. and Knepper,M.A.
  TITLE     Large-scale proteomics and phosphoproteomics of urinary exosomes
  JOURNAL   J Am Soc Nephrol 20 (2), 363-379 (2009)
   PUBMED   19056867
REFERENCE   8  (bases 1 to 2378)
  AUTHORS   Venkatesan,K., Rual,J.F., Vazquez,A., Stelzl,U., Lemmens,I.,
            Hirozane-Kishikawa,T., Hao,T., Zenkner,M., Xin,X., Goh,K.I.,
            Yildirim,M.A., Simonis,N., Heinzmann,K., Gebreab,F., Sahalie,J.M.,
            Cevik,S., Simon,C., de Smet,A.S., Dann,E., Smolyar,A.,
            Vinayagam,A., Yu,H., Szeto,D., Borick,H., Dricot,A., Klitgord,N.,
            Murray,R.R., Lin,C., Lalowski,M., Timm,J., Rau,K., Boone,C.,
            Braun,P., Cusick,M.E., Roth,F.P., Hill,D.E., Tavernier,J.,
            Wanker,E.E., Barabasi,A.L. and Vidal,M.
  TITLE     An empirical framework for binary interactome mapping
  JOURNAL   Nat Methods 6 (1), 83-90 (2009)
   PUBMED   19060904
REFERENCE   9  (bases 1 to 2378)
  AUTHORS   Grupe,A., Li,Y., Rowland,C., Nowotny,P., Hinrichs,A.L., Smemo,S.,
            Kauwe,J.S., Maxwell,T.J., Cherny,S., Doil,L., Tacey,K., van
            Luchene,R., Myers,A., Wavrant-De Vrieze,F., Kaleem,M.,
            Hollingworth,P., Jehu,L., Foy,C., Archer,N., Hamilton,G.,
            Holmans,P., Morris,C.M., Catanese,J., Sninsky,J., White,T.J.,
            Powell,J., Hardy,J., O'Donovan,M., Lovestone,S., Jones,L.,
            Morris,J.C., Thal,L., Owen,M., Williams,J. and Goate,A.
  TITLE     A scan of chromosome 10 identifies a novel locus showing strong
            association with late-onset Alzheimer disease
  JOURNAL   Am J Hum Genet 78 (1), 78-88 (2006)
   PUBMED   16385451
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 2378)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL590677.7 and AL359172.19.
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1965299, SAMEA1966682
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000466271.3/ ENSP00000507500.2
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-542               AL590677.7         80545-81086         c
            543-626             AL590677.7         78210-78293         c
            627-929             AL590677.7         51850-52152         c
            930-1052            AL590677.7         48838-48960         c
            1053-1318           AL590677.7         44683-44948         c
            1319-1544           AL590677.7         32971-33196         c
            1545-1664           AL590677.7         4611-4730           c
            1665-1715           AL359172.19        25257-25307         c
            1716-2378           AL359172.19        19079-19741         c
FEATURES             Location/Qualifiers
     source          1..2378
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p13"
     gene            1..2378
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /note="BEN domain containing 7"
                     /db_xref="GeneID:222389"
                     /db_xref="HGNC:HGNC:23514"
     exon            1..542
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     CDS             482..1723
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /note="isoform 3 is encoded by transcript variant 3; BEN
                     domain-containing protein 7"
                     /codon_start=1
                     /product="BEN domain-containing protein 7 isoform 3"
                     /protein_id="NP_001356792.1"
                     /db_xref="CCDS:CCDS91214.1"
                     /db_xref="GeneID:222389"
                     /db_xref="HGNC:HGNC:23514"
                     /translation="MEFSERKRSRKSQSFKLVSRDYHHEVYKIPEFSNDVNGEAKETQ
                     PIFLGDESMEIKKQITGMRRLLNDSTGRIYQRVGKEGEKLKEEPQDLDLVWPPRLNSS
                     AEAPQSLHPSSRGVWNELPPQSGQFSGQYGTRSRTFQSQPHPTTSSNGELPVVNSSAG
                     SNCCTCNCQSTLQAILQELKTMRKLMQIQAVGTQNRQQPPISLICSQRTAVSRKRNKK
                     KKVPPKTVEPLTVKQKPSGSEMEKKSVVASELSALQAAEHTSPEESRVLGFGIVLESP
                     SSDPEVQLAEGFDVFMPKSQLDSILSNYTRSGSLLFRKLVCAFFDDKTLANSLPNGKR
                     KRGLNDNRKGLDQNIVGAIKVFTEKYCTANHVDKLPGPRDWVQILQDQIKLARRRLKR
                     GSEIADSDERLDGIALPPTVV"
     exon            543..626
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     exon            627..929
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     exon            930..1052
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1318
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     exon            1319..1544
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     exon            1545..1664
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     exon            1665..1715
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     exon            1716..2378
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2359..2364
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /note="hexamer: AATAAA"
     polyA_site      2378
                     /gene="BEND7"
                     /gene_synonym="C10orf30"
                     /note="major polyA site"
ORIGIN      
        1 gccgccgccc tccccgcagc ccgcccgccg cgtcttcggg gccgccgccg ccgccgccgc
       61 gaccgcaggc tgagcccagg cgggccggcc gccccgagcc gccccccgcc tccgccgccg
      121 ccgccgcgcc ccggcccggc ccgctcccaa cggaaagttg ggctgcggcg ggcggcgtct
      181 ggaacccgcg ggccggcatg agcgggggcc gcgggggcgc ctagggcacc gggaggcggc
      241 gccgcgcggg ggcaacttcg cccgggagcc cacgccgccg ggccccgcgc ctgcagcccc
      301 gagccggctc gcggtggttc ctcccgtccc gcggcctccc ctcgccgact ccaggcgcgg
      361 accttggtcc cggcggctcc gccgcggtga cacgagcccg cgccgccgct gccgctgccg
      421 ccgctgccgc tgccgccgct gccgccgcct cctcagcccc cgccgccgcc ttccccgcac
      481 catggagttc tccgagagga aaagaagcag gaaatcccag agcttcaaac tggtgagccg
      541 agattatcac cacgaggtgt ataagatccc agaattcagc aacgatgtta atggggaggc
      601 caaagagaca cagcccattt ttttaggaga tgaaagcatg gaaataaaaa agcaaattac
      661 agggatgaga agattgctga acgacagcac tgggcggatc tatcagcgag ttggcaaaga
      721 aggagagaaa ctaaaagaag agccccagga cctggattta gtctggcctc cacgtttgaa
      781 ctcctctgct gaggccccgc aaagcctcca cccgtcttca cgtggtgtgt ggaatgagct
      841 accgccccag agtggacagt tctcagggca gtatggcacc cgttctagaa ccttccaaag
      901 ccagccccac cctaccacga gctccaatgg agaacttcca gtggtgaatt catcagctgg
      961 atcaaactgc tgtacttgta actgccagtc aacgttgcag gccattctac aagaactcaa
     1021 gaccatgagg aaattaatgc aaattcaagc agttggaact caaaacagac aacaacctcc
     1081 aatttccctt atatgctccc agcgaactgc tgtctcacga aagagaaata aaaagaaaaa
     1141 agtgccccca aagactgtgg aacctcttac tgtgaaacag aagcccagtg ggtcagagat
     1201 ggagaaaaag tcggtggtgg cctctgagct atctgctctc caggcagccg agcacacctc
     1261 cccggaggag agccgcgttc taggattcgg cattgttctg gaatcacctt cctcagatcc
     1321 agaagtacaa cttgctgaag gctttgacgt gtttatgcct aaatctcagc tggactctat
     1381 attgtcaaac tacactcgct caggaagcct tctgtttaga aaactggtgt gtgcgttttt
     1441 tgatgacaag actttggcta actccttacc caatgggaag aggaaaagag gactcaatga
     1501 caaccggaaa ggactagacc aaaatattgt gggtgcaata aaagtcttca cagaaaagta
     1561 ctgtacagct aaccatgtgg ataagcttcc tggcccaaga gattgggtac agattctaca
     1621 ggatcaaatt aaactggcca gaagaaggtt aaaaagaggc tcagagatcg cggacagtga
     1681 tgaaagactg gacggcattg ctctaccacc aacagtggtc tgatgaagga ctgcaaacca
     1741 cagctcttgt gttttttgca ccatgggttt taaaatccgt cctctgcctc ccacaaggag
     1801 ctactaccca agggaaggga gaagattaat tggtgacctt tcgccgtgtt aaaataggat
     1861 gagtatgttg ctggtcaagg cagaaacgct aacttccaac tgtggtctgt taagagatct
     1921 gctgggaacc ttcagaagca ctgccttcca aggcggggcc acagcttggg gtgttcagca
     1981 cttgaggacg ggtggagctt gttcaaccca aagatgtgtg cgatgaacgg atctacacac
     2041 tggaaatacg tatcaaaact gcaacagcaa aatcatattt tgtaaattaa aattgtgttt
     2101 acttactgtg actactgttc agtctttatt cagaaacctt tttataggct ttcttagcaa
     2161 aaaaaaaatc catatctatg gataatgtct caatcttctg tatatatgtt ttattaatat
     2221 gtaaatattt agatttttta aaattactat gttctttaaa aaagaattca atgcaagcct
     2281 ggttgtgaaa atggtgtata acattgtgtt gtggtatcaa ttcccaagat gctctttatg
     2341 tctgatctgg aagaatacaa taaattactt taattgaa
//
