LOCUS       NM_173519               3472 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens clavesin 1 (CLVS1), mRNA.
ACCESSION   NM_173519
VERSION     NM_173519.3
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 3472)
  AUTHORS   Lane,B.M., Chryst-Stangl,M., Wu,G., Shalaby,M., El Desoky,S.,
            Middleton,C.C., Huggins,K., Sood,A., Ochoa,A., Malone,A.F.,
            Vancini,R., Miller,S.E., Hall,G., Kim,S.Y., Howell,D.N., Kari,J.A.
            and Gbadegesin,R.
  TITLE     Steroid-sensitive nephrotic syndrome candidate gene CLVS1 regulates
            podocyte oxidative stress and endocytosis
  JOURNAL   JCI Insight 7 (2), e152102 (2022)
   PUBMED   34874915
  REMARK    GeneRIF: Steroid-sensitive nephrotic syndrome candidate gene CLVS1
            regulates podocyte oxidative stress and endocytosis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3472)
  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   3  (bases 1 to 3472)
  AUTHORS   Guan,W., Steffen,B.T., Lemaitre,R.N., Wu,J.H.Y., Tanaka,T.,
            Manichaikul,A., Foy,M., Rich,S.S., Wang,L., Nettleton,J.A.,
            Tang,W., Gu,X., Bandinelli,S., King,I.B., McKnight,B., Psaty,B.M.,
            Siscovick,D., Djousse,L., Chen,Y.I., Ferrucci,L., Fornage,M.,
            Mozafarrian,D., Tsai,M.Y. and Steffen,L.M.
  TITLE     Genome-wide association study of plasma N6 polyunsaturated fatty
            acids within the cohorts for heart and aging research in genomic
            epidemiology consortium
  JOURNAL   Circ Cardiovasc Genet 7 (3), 321-331 (2014)
   PUBMED   24823311
REFERENCE   4  (bases 1 to 3472)
  AUTHORS   Orvedahl,A., Sumpter,R. Jr., Xiao,G., Ng,A., Zou,Z., Tang,Y.,
            Narimatsu,M., Gilpin,C., Sun,Q., Roth,M., Forst,C.V., Wrana,J.L.,
            Zhang,Y.E., Luby-Phelps,K., Xavier,R.J., Xie,Y. and Levine,B.
  TITLE     Image-based genome-wide siRNA screen identifies selective autophagy
            factors
  JOURNAL   Nature 480 (7375), 113-117 (2011)
   PUBMED   22020285
REFERENCE   5  (bases 1 to 3472)
  AUTHORS   Furney,S.J., Simmons,A., Breen,G., Pedroso,I., Lunnon,K.,
            Proitsi,P., Hodges,A., Powell,J., Wahlund,L.O., Kloszewska,I.,
            Mecocci,P., Soininen,H., Tsolaki,M., Vellas,B., Spenger,C.,
            Lathrop,M., Shen,L., Kim,S., Saykin,A.J., Weiner,M.W. and
            Lovestone,S.
  CONSRTM   Alzheimer's Disease Neuroimaging Initiative; AddNeuroMed Consortium
  TITLE     Genome-wide association with MRI atrophy measures as a quantitative
            trait locus for Alzheimer's disease
  JOURNAL   Mol Psychiatry 16 (11), 1130-1138 (2011)
   PUBMED   21116278
REFERENCE   6  (bases 1 to 3472)
  AUTHORS   Katoh,Y., Ritter,B., Gaffry,T., Blondeau,F., Honing,S. and
            McPherson,P.S.
  TITLE     The clavesin family, neuron-specific lipid- and clathrin-binding
            Sec14 proteins regulating lysosomal morphology
  JOURNAL   J Biol Chem 284 (40), 27646-27654 (2009)
   PUBMED   19651769
  REMARK    GeneRIF: Clavesin protein family appears to provide a unique
            neuron-specific regulation of late endosome/lysosome morphology.
REFERENCE   7  (bases 1 to 3472)
  AUTHORS   Zhao,S., Xu,C., Qian,H., Lv,L., Ji,C., Chen,C., Zhao,X., Zheng,D.,
            Gu,S., Xie,Y. and Mao,Y.
  TITLE     Cellular retinaldehyde-binding protein-like (CRALBPL), a novel
            human Sec14p-like gene that is upregulated in human hepatocellular
            carcinomas, may be used as a marker for human hepatocellular
            carcinomas
  JOURNAL   DNA Cell Biol 27 (3), 159-163 (2008)
   PUBMED   18271718
  REMARK    GeneRIF: CRALBPL may be used as a marker for human hepatocellular
            carcinomas.
REFERENCE   8  (bases 1 to 3472)
  AUTHORS   Kong,Y.H., Ye,G.M., Qu,K., Pan,W.Q., Liu,X.H., Wan,B., Guo,J.H. and
            Yu,L.
  TITLE     Cloning and characterization of a novel, human cellular
            retinaldehyde-binding protein CRALBP-like (CRALBPL) gene
  JOURNAL   Biotechnol Lett 28 (17), 1327-1333 (2006)
   PUBMED   16802092
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA217517.1, BC042617.1, AC090094.5 and AK125153.1.
            
            On Nov 22, 2018 this sequence version replaced NM_173519.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660809.50047.1,
                                           SRR1660809.91719.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145743, SAMEA2154665
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325897.5/ ENSP00000325506.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-21                DA217517.1         5-25
            22-1586             BC042617.1         1-1565
            1587-1587           AC090094.5         114751-114751       c
            1588-2485           BC042617.1         1567-2464
            2486-3322           AK125153.1         1738-2574
            3323-3472           BC042617.1         3298-3447
FEATURES             Location/Qualifiers
     source          1..3472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q12.2-q12.3"
     gene            1..3472
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /note="clavesin 1"
                     /db_xref="GeneID:157807"
                     /db_xref="HGNC:HGNC:23139"
                     /db_xref="MIM:611292"
     exon            1..169
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            170..775
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /inference="alignment:Splign:2.1.0"
     CDS             321..1385
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /note="retinaldehyde-binding protein 1-like 1; clathrin
                     vesicle-associated Sec14 protein 1"
                     /codon_start=1
                     /product="clavesin-1"
                     /protein_id="NP_775790.1"
                     /db_xref="CCDS:CCDS6176.1"
                     /db_xref="GeneID:157807"
                     /db_xref="HGNC:HGNC:23139"
                     /db_xref="MIM:611292"
                     /translation="MGPVSLLPKYQKLNTWNGDLAKMTHLQAGLSPETIEKARLELNE
                     NPDVLHQDIQQVRDMIITRPDIGFLRTDDAFILRFLRARKFHQADAFRLLAQYFQYRQ
                     LNLDMFKNFKADDPGIKRALIDGFPGVLENRDHYGRKILLLFAANWDQSRNSFTDILR
                     AILLSLEVLIEDPELQINGFILIIDWSNFSFKQASKLTPSILKLAIEGLQDSFPARFG
                     GVHFVNQPWYIHALYTLIKPFLKDKTRKRIFLHGNNLNSLHQLIHPEFLPSEFGGTLP
                     PYDMGTWARTLLGPDYSDENDYTHTSYNAMHVKHTSSNLERECSPKLMKRSQSVVEAG
                     TLKHEEKGENENTQPLLALD"
     exon            776..950
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            951..1061
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1062..1297
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /inference="alignment:Splign:2.1.0"
     exon            1298..3472
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3449..3454
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /note="hexamer: AATAAA"
     polyA_site      3472
                     /gene="CLVS1"
                     /gene_synonym="C6orf212L; CRALBPL; RLBP1L1"
                     /note="major polyA site"
ORIGIN      
        1 gcctcctacc aaaatcacag ccccttgtgg agcccgagct ctcattcaca gctttctaga
       61 gaaatctgag cccgaacctg ccagaatagg ggatctcacc cacccagttc agcagcgagg
      121 acacctgcag aaatacattc ccaaagcaag gctgggcggc cgtgtgaagt aagcaatggc
      181 ctcagttttg cttctgtttt ggatgaacac caccacatag ggcctgaatg tgaaagaaga
      241 ccctctattt gtctgttccg gggcagcctg gtagtaaaac actgttgaat gggccacagt
      301 ttcagcagac catcaggtga atgggaccag tctctcttct tccaaaatat cagaagttaa
      361 acacttggaa cggagatttg gccaagatga cccatttaca ggctggactc agtccagaga
      421 ctatagagaa agctcgcctg gaactgaatg aaaaccccga tgttttacat caggatattc
      481 agcaagtcag ggacatgatc atcaccaggc ctgacattgg atttttacgt acagatgatg
      541 ccttcatcct gagatttctc cgagccagga agtttcacca agcggatgcc tttagactcc
      601 tggctcagta tttccagtac cgccagctaa acctggacat gttcaaaaac ttcaaggcag
      661 atgatcccgg cattaagagg gctctgatcg atgggttccc cggggtgctg gaaaaccgag
      721 accattacgg caggaagatt cttttgctgt ttgcagccaa ttgggatcag agtaggaact
      781 ccttcacaga catccttcgt gccatcctgc tgtcattgga agtcctaatc gaagatccgg
      841 agcttcagat aaatggcttc attttaatta tagactggag taatttttcc ttcaaacaag
      901 cctccaaact gacaccttca atccttaaac tggccattga agggttgcag gacagctttc
      961 ctgcccgctt tggaggagtc cactttgtca accagccctg gtacattcat gccctctaca
     1021 cactcatcaa gccatttctt aaagacaaga ccaggaaacg gattttcctg catggaaaca
     1081 atttaaacag ccttcaccag ctaatacacc ctgaattttt gccctctgaa tttggaggaa
     1141 ctcttcctcc ttatgacatg ggaacttggg cccggacgtt actcggtccc gactacagcg
     1201 atgaaaatga ctatactcac acatcctata atgcaatgca cgtgaagcat acgtcctcga
     1261 atctggagag agaatgctca cccaagctga tgaaaagatc tcagtctgtg gtagaagctg
     1321 ggaccctgaa acatgaggag aagggagaga atgagaacac ccagccactc ctggctctgg
     1381 actgaaccct gagtcacccc aatgctcctg cacactggcc ttcagtggta tcagccaccc
     1441 aggaagcaca tgcacaactg acccatgcag acacgtgtgt tctgcttgac acaaggtcct
     1501 ccactcctga acccctgcag tgactgtcac cagccatcgg tctgagcagc caaagttgga
     1561 caaagacttg agagatgctt tttttttccc ccagtgaggg gactggagga tgatgcaagg
     1621 catttatgta aaaaagattc tccctccttt catatttatt gtagtaaatt gaaaaaataa
     1681 agactaaatt tgatggacac actgcattag gacaagaatt tttctgaggt atcacacagg
     1741 gaccctctcc agtttttgaa aattaagtgc atttccaagt aaatgtatca gagttaaact
     1801 gtacagacac cactgtcaag tttcatgtag tacaaagccc tgagacaata gtatctccag
     1861 taatttccat tcttactgaa ttatttcctt tgacctcatc accagcatcg aattgttcag
     1921 cctaagagca tgttctcata ggtctgggta tttgcaaagt ttgcttattt tgatgatatc
     1981 ctgcaaaaaa ttattttgat gtcacatctc ttgtcaggtc actagctgac tgtcatgagc
     2041 tgacgttaaa ggaagacaca tggacgtgaa atacgattat ttcatctgag caatgtgagt
     2101 taccacaggc agctcaaaag cccattagtg cagcatgtgt ctgcagagga gatgtctcat
     2161 gaaaatcaca tgtcagtgat taatgaatcc attccagttg cctcaactgg gtcactacag
     2221 caaagaaaag tgctatcaaa ccatttaccc ttgcccccac aaccctcctg caaccattaa
     2281 agatgtggag aaagaccatg gttgttgctg agagggtaaa tattcaatca tggagcatga
     2341 cccatatgga tggctaaata tgcaagtact gaagtaagag aagactagaa atgcaggatg
     2401 aaatgtcaaa ggtcatttta tttacctagt ctccttagaa atggagtccc caactactca
     2461 ttcaaaagaa atcagacata aaataaacag acatcatata tgatatcctt acttgtgcca
     2521 tgttttccaa gaccagtgca tatttttaga catctcttat tcgcccagcc atctgcatga
     2581 catgggtatt tattagtatt accagttggt gctcaaagtc aaacaaaaat attttagtta
     2641 ataatgggca gtaaaatatg attttacatt attttaaata tttgggagag ttaatttgtt
     2701 agctaaataa ttcaagggaa agagattatt caactggtca taatcacccc tgataatatt
     2761 attactaatc ttaattattt attacatcat ctctttctca atggatctaa tgttttaatt
     2821 ttttccccta ttggtagaga acaataacag aagtaatttt tatattatac acttggagaa
     2881 ataaagttga aacagaatta aaaatatttc tcaaacaact gtatcacaat ataaattaaa
     2941 ctaattcatt tttgtgtaga catacgaaat cacaaaaata ataacactga aataattcta
     3001 ccaatgcagt gatggaaaca cttttcttat gtaccaagac atagataggt aagagaaata
     3061 aagaattgaa gtgaattaga aaatccattt tattgcttgg gtttaaaata gttgtgggat
     3121 acaagtattt acaatgctat tggagtcaat tattgacaac actttgcaac agtaatacca
     3181 tttctagctt ttcaattggc aatacttaga accttactgt agtgacctga ttttaaatac
     3241 catattatat ttactaagtt aagagctagt ttttactctc ttccataatt tcattacatg
     3301 aatgtaagat gatggctcaa aaatgacgac ttatagtttg aatttatgtg tatgcaatat
     3361 acatatgaga accaaattca acaagtgaca tgaatgttac tacatgaaca ttgaattgta
     3421 ttgcccttgt cagttatttc ctctgttcaa taaatactga aggtcacaaa ca
//
