LOCUS       NM_001350540            3287 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens sorting nexin 14 (SNX14), transcript variant 13, mRNA.
ACCESSION   NM_001350540
VERSION     NM_001350540.2
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 3287)
  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 3287)
  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 3287)
  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 3287)
  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 3287)
  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 3287)
  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 3287)
  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 3287)
  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 3287)
  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 3287)
  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_001350540.1.
            
            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 :: SRR14038195.1945344.1,
                                           SRR1803612.69098.1 [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
            1-280               AL136082.22        8981-9260           c
            281-401             AL589666.5         118570-118690       c
            402-478             AL589666.5         116610-116686       c
            479-557             AL589666.5         116449-116527       c
            558-601             AL589666.5         111846-111889       c
            602-689             AL589666.5         109644-109731       c
            690-774             AL589666.5         102288-102372       c
            775-931             AL589666.5         94035-94191         c
            932-1007            AL589666.5         92613-92688         c
            1008-1052           AL589666.5         91818-91862         c
            1053-1133           AL589666.5         91629-91709         c
            1134-1248           AL589666.5         91424-91538         c
            1249-1404           AL589666.5         87917-88072         c
            1405-1529           AL589666.5         87494-87618         c
            1530-1588           AL589666.5         86297-86355         c
            1589-1615           AL589666.5         83150-83176         c
            1616-1748           AL589666.5         81104-81236         c
            1749-1950           AL589666.5         77911-78112         c
            1951-2034           AL589666.5         74504-74587         c
            2035-2135           AL589666.5         72574-72674         c
            2136-2247           AL589666.5         70438-70549         c
            2248-2288           AL589666.5         62320-62360         c
            2289-2408           AL589666.5         62068-62187         c
            2409-2532           AL589666.5         58818-58941         c
            2533-2628           AL589666.5         58112-58207         c
            2629-2720           AL589666.5         52280-52371         c
            2721-2777           AL589666.5         51545-51601         c
            2778-3287           AL589666.5         49808-50317         c
FEATURES             Location/Qualifiers
     source          1..3287
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..3287
                     /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..280
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     CDS             141..2816
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="isoform m is encoded by transcript variant 13"
                     /codon_start=1
                     /product="sorting nexin-14 isoform m"
                     /protein_id="NP_001337469.1"
                     /db_xref="CCDS:CCDS93963.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
                     /translation="MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLL
                     LNRYIHILMIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCA
                     VCGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVLELVLENFVYPWYRDVTDDE
                     SFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKVKNTEFL
                     QQAALEEYGPELHVALRSRRDELHYLRKLTELLFPYILPPKATDCRSLTLLIREILSG
                     SVFLPSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPFLQKFAEPRNKKPSVLK
                     LELKQIREQQDLLFRFMNFLKQEGAVHVLQFCLTVEEFNDRILRPELSNDEMLSLHEE
                     LQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLL
                     ENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDDFRNTQKRGESFGISRIGS
                     KIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVSTPNTPRNLAAWK
                     ISIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEPEHWSVYRRYLEFYVLE
                     SKLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQHPELSNSQLLADF
                     LSPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPFIMNFINSCESPKPKPS
                     RPELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMTVEGVYDYLMYVD
                     AIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRLLFDGLQQPV
                     LNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM"
     exon            281..401
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            402..478
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            479..557
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            558..601
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            602..689
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            690..774
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            775..931
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1007
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1008..1052
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1133
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1134..1248
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1249..1404
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1529
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1588
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1589..1615
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1616..1748
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1749..1950
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1951..2034
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2035..2135
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2136..2247
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2248..2288
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2289..2408
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2409..2532
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2533..2628
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2629..2720
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2721..2777
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2778..3287
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2950..2955
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      2985
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="major polyA site"
     regulatory      3254..3259
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3287
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
ORIGIN      
        1 ctcagcctgc ggcggctaac tgccggtagg cgtctgtgtg cgccgccaag tcggtggggc
       61 ggggacgcga ggtgtggatg gggggtcgcc ttgacctctg cctcagccag tagcgcagtc
      121 tcggcctcgc cgttacggag atggtgccct gggtgcggac gatggggcag aagctgaagc
      181 agcggctgcg actggacgtg ggacgcgaga tctgccgcca gtacccgctg ttctgcttcc
      241 tgctgctctg tctcagcgcc gcctccctgc ttcttaacag gtatattcat attttaatga
      301 tcttctggtc atttgttgct ggagttgtca cattctactg ctcactagga cctgattctc
      361 tcttaccaaa tatattcttc acaataaaat acaaacccaa gcagttagga cttcaggaat
      421 tatttcctca aggtcatagc tgtgctgttt gtggtaaagt gaaatgtaaa cgacataggc
      481 cttctttgct acttgaaaac taccagccat ggctagacct gaaaatttct tccaaggttg
      541 atgcatctct ctcagaggtt cttgaattag tgttggaaaa ctttgtttat ccgtggtaca
      601 gggatgtgac agatgatgaa tcctttgttg atgaactgag aataacatta cgtttttttg
      661 catctgtctt aataagaagg attcacaagg tggatattcc atctattata accaagaaac
      721 tattaaaagc agcaatgaag catatagaag tgatagttaa agccagacag aaagtaaaaa
      781 atacagagtt tttacagcaa gctgctttag aagaatatgg tccagagctt catgttgctt
      841 tgagaagtcg aagagatgaa ttgcactatt taaggaaact tactgaactg ctttttcctt
      901 atattttgcc tcctaaagca acagactgca gatctctgac cttacttata agagagattc
      961 tgtctggctc tgtgttcctt ccttctttgg atttcctagc tgatccagat actgtgaatc
     1021 atttgcttat catcttcata gatgacagtc cacctgaaaa agcaactgaa ccggcttctc
     1081 ctttggttcc attcttgcag aaatttgcag aacctagaaa taaaaagcca tctgtgctga
     1141 agttagaatt gaagcaaatc agagagcaac aagatctttt atttcgtttt atgaactttc
     1201 tgaaacaaga aggcgcagtg cacgtgttgc agttttgttt gactgtggag gaatttaatg
     1261 atagaatttt acgaccagaa ttatcaaatg atgaaatgct gtctcttcat gaagaattgc
     1321 agaagattta taaaacatac tgtttggatg aaagtattga caaaattaga tttgatccct
     1381 tcattgtaga agagattcaa agaattgctg aaggcccata catagatgtt gtgaaacttc
     1441 aaactatgag atgtcttttt gaagcatatg aacatgttct ttcccttttg gagaatgtat
     1501 ttactcctat gttctgccat agtgatgagt atttcagaca acttttaaga ggtgcagaat
     1561 caccaacacg caattcaaaa ttgaacagag gtagcctaag tttggatgat tttcggaaca
     1621 cacagaaaag gggagaatca tttggaatca gcagaatagg tagcaaaatt aaaggagtat
     1681 tcaaaagtac cacaatggag ggagctatgt tgcctaatta tggtgtagct gaaggtgaag
     1741 atgattttat tgaagaaggt attgttgtaa tggaagatga ttctccagtg gaggctgtga
     1801 gcacacctaa tactccccga aaccttgctg catggaaaat tagcattcca tatgtagact
     1861 tttttgagga tccctcctct gaaaggaagg agaaaaaaga aagaattcct gtgttttgta
     1921 ttgatgttga aagaaatgat agaagagcag ttggacacga gcctgaacat tggtctgtct
     1981 atagaagata tcttgaattc tatgtacttg aatcaaaact aacagaattt catggtgcat
     2041 ttcctgatgc ccagcttcct tctaagagga tcattggccc caaaaattat gaattcttaa
     2101 agtcaaagag ggaagagttc caagaatatc tacagaaact tctgcagcat ccagaactga
     2161 gtaatagtca acttctggca gactttcttt cccctaatgg tggggaaaca caatttcttg
     2221 ataagatact accagatgta aatcttggga aaattataaa atctgttcct ggaaaactaa
     2281 tgaaagagaa aggtcagcat ttggaacctt ttatcatgaa tttcattaat tcttgtgagt
     2341 ctccaaagcc taaaccaagt agaccagaac tgaccattct cagccctact tcagaaaaca
     2401 acaagaagct tttcaatgat ctgtttaaaa ataatgcaaa ccgtgctgaa aatacagaga
     2461 gaaagcaaaa tcagaattat tttatggagg tgatgactgt agaaggagtc tatgattacc
     2521 tgatgtatgt agatgctata ttctgtgaaa acactgaacc tcgctctctc caagataagc
     2581 aaaaaggagc aaaacagact tttgaagaaa tgatgaatta cattccagat ctgttagtca
     2641 agtgtattgg tgaagaaacc aagtatgaaa gcatcagact tctgtttgat ggcttacagc
     2701 aaccagtact caacaagcag ctgacttatg ttttattgga cattgtgata caggaactgt
     2761 ttccagagct caataaggta caaaaggaag ttacctctgt gacatcttgg atgtaaacac
     2821 ttggatttgg tatagaataa cccattgaaa tttctgctgt gcgagggtgg tagaaattta
     2881 cttttttggg tatattctta tatatattat gtacatcgct gtctgaaatt ttagttattt
     2941 tttgttttta ataaagacta acacaaactt aatgattaaa agtgattgag tctcatagtc
     3001 tttcatttgc tagctgtgat ccaaatttta ttagaacata agtcacttgt tattgccatt
     3061 tttaaaagag aaaattcata atgatgttat ggcaaacaga taagactgat aaacttcgta
     3121 ttgtatagct ttgaaaataa ttatgcctag tatggagaaa caggaataag atctgatttt
     3181 cttagagtta atatatttta gtagattggt tttccttttt tttattttgt acatagttaa
     3241 ctgtgtatct ataaataaag catcctatat gagtttttaa taataaa
//
