LOCUS       NM_001350539            3194 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens sorting nexin 14 (SNX14), transcript variant 12, mRNA.
ACCESSION   NM_001350539 XM_017011093
VERSION     NM_001350539.2
KEYWORDS    RefSeq.
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 3194)
  AUTHORS   Lv,S., Jiang,H., Yu,L., Zhang,Y., Sun,L. and Xu,J.
  TITLE     SNX14 inhibits autophagy via the PI3K/AKT/mTOR signaling cascade in
            breast cancer cells
  JOURNAL   J Mol Histol 55 (4), 391-401 (2024)
   PUBMED   38869753
  REMARK    GeneRIF: SNX14 inhibits autophagy via the PI3K/AKT/mTOR signaling
            cascade in breast cancer cells.
REFERENCE   2  (bases 1 to 3194)
  AUTHORS   Wu,Y., Yang,Y., Yi,X. and Song,L.
  TITLE     The circSNX14 functions as a tumor suppressor via the miR-562/
            LATS2 pathway in hepatocellular carcinoma cells
  JOURNAL   J Mol Histol 54 (6), 593-607 (2023)
   PUBMED   37861952
  REMARK    GeneRIF: The circSNX14 functions as a tumor suppressor via the
            miR-562/ LATS2 pathway in hepatocellular carcinoma cells.
REFERENCE   3  (bases 1 to 3194)
  AUTHORS   Datta,S., Liu,Y., Hariri,H., Bowerman,J. and Henne,W.M.
  TITLE     Cerebellar ataxia disease-associated Snx14 promotes lipid droplet
            growth at ER-droplet contacts
  JOURNAL   J Cell Biol 218 (4), 1335-1351 (2019)
   PUBMED   30765438
  REMARK    GeneRIF: Snx14, an endoplasmic reticulum-resident protein
            associated with the cerebellar ataxia SCAR20, localizes to ER-LD
            contacts following fatty acid treatment, where it promotes lipid
            droplet maturation.
REFERENCE   4  (bases 1 to 3194)
  AUTHORS   Bryant,D., Liu,Y., Datta,S., Hariri,H., Seda,M., Anderson,G.,
            Peskett,E., Demetriou,C., Sousa,S., Jenkins,D., Clayton,P.,
            Bitner-Glindzicz,M., Moore,G.E., Henne,W.M. and Stanier,P.
  TITLE     SNX14 mutations affect endoplasmic reticulum-associated neutral
            lipid metabolism in autosomal recessive spinocerebellar ataxia 20
  JOURNAL   Hum Mol Genet 27 (11), 1927-1940 (2018)
   PUBMED   29635513
  REMARK    GeneRIF: We therefore identify an important role for SNX14 in
            neutral lipid homeostasis between the endoplasmic reticulum ,
            lysosomes and lipid droplets that may provide an early intervention
            target to alleviate the clinical symptoms of autosomal recessive
            cerebellar ataxia 20 (SCAR20).
REFERENCE   5  (bases 1 to 3194)
  AUTHORS   Shukla,A., Upadhyai,P., Shah,J., Neethukrishna,K., Bielas,S. and
            Girisha,K.M.
  TITLE     Autosomal recessive spinocerebellar ataxia 20: Report of a new
            patient and review of literature
  JOURNAL   Eur J Med Genet 60 (2), 118-123 (2017)
   PUBMED   27913285
  REMARK    GeneRIF: Here we report on a child with a novel missense mutation
            in the SNX14 gene that appears to be debilitating for protein
            conformation, function and review the previously reported cases
            from 15 families
REFERENCE   6  (bases 1 to 3194)
  AUTHORS   Worby,C.A. and Dixon,J.E.
  TITLE     Sorting out the cellular functions of sorting nexins
  JOURNAL   Nat Rev Mol Cell Biol 3 (12), 919-931 (2002)
   PUBMED   12461558
  REMARK    Review article
            Erratum:[Nat Rev Mol Cell Biol. 2003 Feb;4(2):156.]
REFERENCE   7  (bases 1 to 3194)
  AUTHORS   Xu,Y., Seet,L.F., Hanson,B. and Hong,W.
  TITLE     The Phox homology (PX) domain, a new player in phosphoinositide
            signalling
  JOURNAL   Biochem J 360 (Pt 3), 513-530 (2001)
   PUBMED   11736640
  REMARK    Review article
REFERENCE   8  (bases 1 to 3194)
  AUTHORS   Teasdale,R.D., Loci,D., Houghton,F., Karlsson,L. and Gleeson,P.A.
  TITLE     A large family of endosome-localized proteins related to sorting
            nexin 1
  JOURNAL   Biochem J 358 (Pt 1), 7-16 (2001)
   PUBMED   11485546
REFERENCE   9  (bases 1 to 3194)
  AUTHORS   Carroll,P., Renoncourt,Y., Gayet,O., De Bovis,B. and Alonso,S.
  TITLE     Sorting nexin-14, a gene expressed in motoneurons trapped by an in
            vitro preselection method
  JOURNAL   Dev Dyn 221 (4), 431-442 (2001)
   PUBMED   11500980
REFERENCE   10 (bases 1 to 3194)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL136082.22 and AL589666.5.
            
            On Aug 13, 2020 this sequence version replaced NM_001350539.1.
            
            Summary: This gene encodes a member of the sorting nexin family.
            Members of this family have a phox (PX) phosphoinositide binding
            domain and are involved in intracellular trafficking. The encoded
            protein also contains a regulator of G protein signaling (RGS)
            domain. Regulator of G protein signaling family members are
            regulatory molecules that act as GTPase activating proteins for G
            alpha subunits of heterotrimeric G proteins. Alternate splicing
            results in transcript variants encoding distinct isoforms.
            [provided by RefSeq, Jul 2014].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.4005188.1,
                                           SRR18074969.2221133.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AL136082.22        9236-9260           c
            26-146              AL589666.5         118570-118690       c
            147-220             AL589666.5         116610-116683       c
            221-299             AL589666.5         116449-116527       c
            300-343             AL589666.5         111846-111889       c
            344-431             AL589666.5         109644-109731       c
            432-516             AL589666.5         102288-102372       c
            517-673             AL589666.5         94035-94191         c
            674-749             AL589666.5         92613-92688         c
            750-794             AL589666.5         91818-91862         c
            795-875             AL589666.5         91629-91709         c
            876-990             AL589666.5         91424-91538         c
            991-1146            AL589666.5         87917-88072         c
            1147-1271           AL589666.5         87494-87618         c
            1272-1330           AL589666.5         86297-86355         c
            1331-1357           AL589666.5         83150-83176         c
            1358-1490           AL589666.5         81104-81236         c
            1491-1692           AL589666.5         77911-78112         c
            1693-1776           AL589666.5         74504-74587         c
            1777-1877           AL589666.5         72574-72674         c
            1878-1989           AL589666.5         70438-70549         c
            1990-2030           AL589666.5         62320-62360         c
            2031-2150           AL589666.5         62068-62187         c
            2151-2274           AL589666.5         58818-58941         c
            2275-2439           AL589666.5         58382-58546         c
            2440-2535           AL589666.5         58112-58207         c
            2536-2627           AL589666.5         52280-52371         c
            2628-2684           AL589666.5         51545-51601         c
            2685-3194           AL589666.5         49808-50317         c
FEATURES             Location/Qualifiers
     source          1..3194
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..3194
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="sorting nexin 14"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
     exon            1..25
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            26..146
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     CDS             42..2723
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="isoform l is encoded by transcript variant 12"
                     /codon_start=1
                     /product="sorting nexin-14 isoform l"
                     /protein_id="NP_001337468.1"
                     /db_xref="CCDS:CCDS93956.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
                     /translation="MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKLGLQELFPQ
                     GHSCAVCGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVLELVLENFVYPWYRD
                     VTDDESFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKVK
                     NTEFLQQAALEEYGPELHVALRSRRDELHYLRKLTELLFPYILPPKATDCRSLTLLIR
                     EILSGSVFLPSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPFLQKFAEPRNKK
                     PSVLKLELKQIREQQDLLFRFMNFLKQEGAVHVLQFCLTVEEFNDRILRPELSNDEML
                     SLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEH
                     VLSLLENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDDFRNTQKRGESFGI
                     SRIGSKIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVSTPNTPRN
                     LAAWKISIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEPEHWSVYRRYLE
                     FYVLESKLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQHPELSNSQ
                     LLADFLSPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPFIMNFINSCESP
                     KPKPSRPELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMTVEGVYDY
                     LMYVGRVVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQEHRLVSLITLL
                     RDAIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRLLFDGLQQ
                     PVLNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM"
     exon            147..220
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            221..299
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            300..343
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            344..431
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            432..516
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            517..673
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            674..749
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            750..794
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            795..875
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            876..990
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            991..1146
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1147..1271
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1272..1330
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1331..1357
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1358..1490
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1491..1692
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1693..1776
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1777..1877
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1878..1989
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1990..2030
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2031..2150
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2151..2274
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2275..2439
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2440..2535
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2536..2627
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2628..2684
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2685..3194
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2857..2862
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      2892
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="major polyA site"
     regulatory      3161..3166
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3194
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
ORIGIN      
        1 ctcagcctgc ggcggctaac tgccggtata ttcatatttt aatgatcttc tggtcatttg
       61 ttgctggagt tgtcacattc tactgctcac taggacctga ttctctctta ccaaatatat
      121 tcttcacaat aaaatacaaa cccaagttag gacttcagga attatttcct caaggtcata
      181 gctgtgctgt ttgtggtaaa gtgaaatgta aacgacatag gccttctttg ctacttgaaa
      241 actaccagcc atggctagac ctgaaaattt cttccaaggt tgatgcatct ctctcagagg
      301 ttcttgaatt agtgttggaa aactttgttt atccgtggta cagggatgtg acagatgatg
      361 aatcctttgt tgatgaactg agaataacat tacgtttttt tgcatctgtc ttaataagaa
      421 ggattcacaa ggtggatatt ccatctatta taaccaagaa actattaaaa gcagcaatga
      481 agcatataga agtgatagtt aaagccagac agaaagtaaa aaatacagag tttttacagc
      541 aagctgcttt agaagaatat ggtccagagc ttcatgttgc tttgagaagt cgaagagatg
      601 aattgcacta tttaaggaaa cttactgaac tgctttttcc ttatattttg cctcctaaag
      661 caacagactg cagatctctg accttactta taagagagat tctgtctggc tctgtgttcc
      721 ttccttcttt ggatttccta gctgatccag atactgtgaa tcatttgctt atcatcttca
      781 tagatgacag tccacctgaa aaagcaactg aaccggcttc tcctttggtt ccattcttgc
      841 agaaatttgc agaacctaga aataaaaagc catctgtgct gaagttagaa ttgaagcaaa
      901 tcagagagca acaagatctt ttatttcgtt ttatgaactt tctgaaacaa gaaggcgcag
      961 tgcacgtgtt gcagttttgt ttgactgtgg aggaatttaa tgatagaatt ttacgaccag
     1021 aattatcaaa tgatgaaatg ctgtctcttc atgaagaatt gcagaagatt tataaaacat
     1081 actgtttgga tgaaagtatt gacaaaatta gatttgatcc cttcattgta gaagagattc
     1141 aaagaattgc tgaaggccca tacatagatg ttgtgaaact tcaaactatg agatgtcttt
     1201 ttgaagcata tgaacatgtt ctttcccttt tggagaatgt atttactcct atgttctgcc
     1261 atagtgatga gtatttcaga caacttttaa gaggtgcaga atcaccaaca cgcaattcaa
     1321 aattgaacag aggtagccta agtttggatg attttcggaa cacacagaaa aggggagaat
     1381 catttggaat cagcagaata ggtagcaaaa ttaaaggagt attcaaaagt accacaatgg
     1441 agggagctat gttgcctaat tatggtgtag ctgaaggtga agatgatttt attgaagaag
     1501 gtattgttgt aatggaagat gattctccag tggaggctgt gagcacacct aatactcccc
     1561 gaaaccttgc tgcatggaaa attagcattc catatgtaga cttttttgag gatccctcct
     1621 ctgaaaggaa ggagaaaaaa gaaagaattc ctgtgttttg tattgatgtt gaaagaaatg
     1681 atagaagagc agttggacac gagcctgaac attggtctgt ctatagaaga tatcttgaat
     1741 tctatgtact tgaatcaaaa ctaacagaat ttcatggtgc atttcctgat gcccagcttc
     1801 cttctaagag gatcattggc cccaaaaatt atgaattctt aaagtcaaag agggaagagt
     1861 tccaagaata tctacagaaa cttctgcagc atccagaact gagtaatagt caacttctgg
     1921 cagactttct ttcccctaat ggtggggaaa cacaatttct tgataagata ctaccagatg
     1981 taaatcttgg gaaaattata aaatctgttc ctggaaaact aatgaaagag aaaggtcagc
     2041 atttggaacc ttttatcatg aatttcatta attcttgtga gtctccaaag cctaaaccaa
     2101 gtagaccaga actgaccatt ctcagcccta cttcagaaaa caacaagaag cttttcaatg
     2161 atctgtttaa aaataatgca aaccgtgctg aaaatacaga gagaaagcaa aatcagaatt
     2221 attttatgga ggtgatgact gtagaaggag tctatgatta cctgatgtat gtaggacggg
     2281 tagttttcca ggttcctgac tggcttcatc atctcttaat gggaactcga atcctcttta
     2341 aaaacaccct ggaaatgtat actgattact atcttcagtg taaactagaa cagctatttc
     2401 aggagcaccg tttggtctca ctcataacac ttctcagaga tgctatattc tgtgaaaaca
     2461 ctgaacctcg ctctctccaa gataagcaaa aaggagcaaa acagactttt gaagaaatga
     2521 tgaattacat tccagatctg ttagtcaagt gtattggtga agaaaccaag tatgaaagca
     2581 tcagacttct gtttgatggc ttacagcaac cagtactcaa caagcagctg acttatgttt
     2641 tattggacat tgtgatacag gaactgtttc cagagctcaa taaggtacaa aaggaagtta
     2701 cctctgtgac atcttggatg taaacacttg gatttggtat agaataaccc attgaaattt
     2761 ctgctgtgcg agggtggtag aaatttactt ttttgggtat attcttatat atattatgta
     2821 catcgctgtc tgaaatttta gttatttttt gtttttaata aagactaaca caaacttaat
     2881 gattaaaagt gattgagtct catagtcttt catttgctag ctgtgatcca aattttatta
     2941 gaacataagt cacttgttat tgccattttt aaaagagaaa attcataatg atgttatggc
     3001 aaacagataa gactgataaa cttcgtattg tatagctttg aaaataatta tgcctagtat
     3061 ggagaaacag gaataagatc tgattttctt agagttaata tattttagta gattggtttt
     3121 cctttttttt attttgtaca tagttaactg tgtatctata aataaagcat cctatatgag
     3181 tttttaataa taaa
//
