LOCUS       NM_001350553            3166 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens sorting nexin 14 (SNX14), transcript variant 26, mRNA.
ACCESSION   NM_001350553 XM_017011101
VERSION     NM_001350553.2
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 3166)
  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 3166)
  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 3166)
  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 3166)
  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 3166)
  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 3166)
  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 3166)
  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 3166)
  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 3166)
  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 3166)
  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_001350553.1.
            
            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 :: SRR18074967.3669795.1,
                                           SRR18074968.867273.1 [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
            147-223             AL589666.5         116610-116686       c
            224-302             AL589666.5         116449-116527       c
            303-346             AL589666.5         111846-111889       c
            347-434             AL589666.5         109644-109731       c
            435-519             AL589666.5         102288-102372       c
            520-676             AL589666.5         94035-94191         c
            677-752             AL589666.5         92613-92688         c
            753-797             AL589666.5         91818-91862         c
            798-878             AL589666.5         91629-91709         c
            879-989             AL589666.5         91428-91538         c
            990-1145            AL589666.5         87917-88072         c
            1146-1270           AL589666.5         87494-87618         c
            1271-1329           AL589666.5         86297-86355         c
            1330-1462           AL589666.5         81104-81236         c
            1463-1664           AL589666.5         77911-78112         c
            1665-1748           AL589666.5         74504-74587         c
            1749-1849           AL589666.5         72574-72674         c
            1850-1961           AL589666.5         70438-70549         c
            1962-2002           AL589666.5         62320-62360         c
            2003-2122           AL589666.5         62068-62187         c
            2123-2246           AL589666.5         58818-58941         c
            2247-2411           AL589666.5         58382-58546         c
            2412-2507           AL589666.5         58112-58207         c
            2508-2599           AL589666.5         52280-52371         c
            2600-2656           AL589666.5         51545-51601         c
            2657-3166           AL589666.5         49808-50317         c
FEATURES             Location/Qualifiers
     source          1..3166
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..3166
                     /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"
     exon            147..223
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            224..302
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            303..346
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            347..434
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            435..519
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            520..676
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            677..752
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            753..797
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            798..878
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            879..989
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1145
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     CDS             1037..2695
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="isoform u is encoded by transcript variant 26"
                     /codon_start=1
                     /product="sorting nexin-14 isoform u"
                     /protein_id="NP_001337482.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
                     /translation="MLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYID
                     VVKLQTMRCLFEAYEHVLSLLENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRNTQK
                     RGESFGISRIGSKIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVS
                     TPNTPRNLAAWKISIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEPEHWS
                     VYRRYLEFYVLESKLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQH
                     PELSNSQLLADFLSPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPFIMNF
                     INSCESPKPKPSRPELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMT
                     VEGVYDYLMYVGRVVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQEHRL
                     VSLITLLRDAIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRL
                     LFDGLQQPVLNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM"
     exon            1146..1270
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1329
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1330..1462
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1664
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1665..1748
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1849
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1850..1961
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1962..2002
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2003..2122
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2123..2246
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2247..2411
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2412..2507
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2508..2599
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2600..2656
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2657..3166
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2829..2834
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      2864
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="major polyA site"
     regulatory      3133..3138
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3166
                     /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 cccaagcagt taggacttca ggaattattt cctcaaggtc
      181 atagctgtgc tgtttgtggt aaagtgaaat gtaaacgaca taggccttct ttgctacttg
      241 aaaactacca gccatggcta gacctgaaaa tttcttccaa ggttgatgca tctctctcag
      301 aggttcttga attagtgttg gaaaactttg tttatccgtg gtacagggat gtgacagatg
      361 atgaatcctt tgttgatgaa ctgagaataa cattacgttt ttttgcatct gtcttaataa
      421 gaaggattca caaggtggat attccatcta ttataaccaa gaaactatta aaagcagcaa
      481 tgaagcatat agaagtgata gttaaagcca gacagaaagt aaaaaataca gagtttttac
      541 agcaagctgc tttagaagaa tatggtccag agcttcatgt tgctttgaga agtcgaagag
      601 atgaattgca ctatttaagg aaacttactg aactgctttt tccttatatt ttgcctccta
      661 aagcaacaga ctgcagatct ctgaccttac ttataagaga gattctgtct ggctctgtgt
      721 tccttccttc tttggatttc ctagctgatc cagatactgt gaatcatttg cttatcatct
      781 tcatagatga cagtccacct gaaaaagcaa ctgaaccggc ttctcctttg gttccattct
      841 tgcagaaatt tgcagaacct agaaataaaa agccatctgt gctgaagtta gaattgaagc
      901 aaatcagaga gcaacaagat cttttatttc gttttatgaa ctttctgaaa caagaaggcg
      961 cagtgcacgt gttgcagttt tgtttgacta ggaatttaat gatagaattt tacgaccaga
     1021 attatcaaat gatgaaatgc tgtctcttca tgaagaattg cagaagattt ataaaacata
     1081 ctgtttggat gaaagtattg acaaaattag atttgatccc ttcattgtag aagagattca
     1141 aagaattgct gaaggcccat acatagatgt tgtgaaactt caaactatga gatgtctttt
     1201 tgaagcatat gaacatgttc tttccctttt ggagaatgta tttactccta tgttctgcca
     1261 tagtgatgag tatttcagac aacttttaag aggtgcagaa tcaccaacac gcaattcaaa
     1321 attgaacagg aacacacaga aaaggggaga atcatttgga atcagcagaa taggtagcaa
     1381 aattaaagga gtattcaaaa gtaccacaat ggagggagct atgttgccta attatggtgt
     1441 agctgaaggt gaagatgatt ttattgaaga aggtattgtt gtaatggaag atgattctcc
     1501 agtggaggct gtgagcacac ctaatactcc ccgaaacctt gctgcatgga aaattagcat
     1561 tccatatgta gacttttttg aggatccctc ctctgaaagg aaggagaaaa aagaaagaat
     1621 tcctgtgttt tgtattgatg ttgaaagaaa tgatagaaga gcagttggac acgagcctga
     1681 acattggtct gtctatagaa gatatcttga attctatgta cttgaatcaa aactaacaga
     1741 atttcatggt gcatttcctg atgcccagct tccttctaag aggatcattg gccccaaaaa
     1801 ttatgaattc ttaaagtcaa agagggaaga gttccaagaa tatctacaga aacttctgca
     1861 gcatccagaa ctgagtaata gtcaacttct ggcagacttt ctttccccta atggtgggga
     1921 aacacaattt cttgataaga tactaccaga tgtaaatctt gggaaaatta taaaatctgt
     1981 tcctggaaaa ctaatgaaag agaaaggtca gcatttggaa ccttttatca tgaatttcat
     2041 taattcttgt gagtctccaa agcctaaacc aagtagacca gaactgacca ttctcagccc
     2101 tacttcagaa aacaacaaga agcttttcaa tgatctgttt aaaaataatg caaaccgtgc
     2161 tgaaaataca gagagaaagc aaaatcagaa ttattttatg gaggtgatga ctgtagaagg
     2221 agtctatgat tacctgatgt atgtaggacg ggtagttttc caggttcctg actggcttca
     2281 tcatctctta atgggaactc gaatcctctt taaaaacacc ctggaaatgt atactgatta
     2341 ctatcttcag tgtaaactag aacagctatt tcaggagcac cgtttggtct cactcataac
     2401 acttctcaga gatgctatat tctgtgaaaa cactgaacct cgctctctcc aagataagca
     2461 aaaaggagca aaacagactt ttgaagaaat gatgaattac attccagatc tgttagtcaa
     2521 gtgtattggt gaagaaacca agtatgaaag catcagactt ctgtttgatg gcttacagca
     2581 accagtactc aacaagcagc tgacttatgt tttattggac attgtgatac aggaactgtt
     2641 tccagagctc aataaggtac aaaaggaagt tacctctgtg acatcttgga tgtaaacact
     2701 tggatttggt atagaataac ccattgaaat ttctgctgtg cgagggtggt agaaatttac
     2761 ttttttgggt atattcttat atatattatg tacatcgctg tctgaaattt tagttatttt
     2821 ttgtttttaa taaagactaa cacaaactta atgattaaaa gtgattgagt ctcatagtct
     2881 ttcatttgct agctgtgatc caaattttat tagaacataa gtcacttgtt attgccattt
     2941 ttaaaagaga aaattcataa tgatgttatg gcaaacagat aagactgata aacttcgtat
     3001 tgtatagctt tgaaaataat tatgcctagt atggagaaac aggaataaga tctgattttc
     3061 ttagagttaa tatattttag tagattggtt ttcctttttt ttattttgta catagttaac
     3121 tgtgtatcta taaataaagc atcctatatg agtttttaat aataaa
//
