LOCUS       NM_001350533            3449 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens sorting nexin 14 (SNX14), transcript variant 6, mRNA.
ACCESSION   NM_001350533 XM_005248738
VERSION     NM_001350533.2
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 3449)
  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 3449)
  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 3449)
  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 3449)
  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 3449)
  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 3449)
  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 3449)
  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 3449)
  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 3449)
  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 3449)
  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_001350533.1.
            
            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 :: SRR14038194.1884189.1,
                                           SRR18074967.100550.1 [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
            402-475             AL589666.5         116610-116683       c
            476-554             AL589666.5         116449-116527       c
            555-598             AL589666.5         111846-111889       c
            599-686             AL589666.5         109644-109731       c
            687-771             AL589666.5         102288-102372       c
            772-928             AL589666.5         94035-94191         c
            929-1004            AL589666.5         92613-92688         c
            1005-1049           AL589666.5         91818-91862         c
            1050-1130           AL589666.5         91629-91709         c
            1131-1245           AL589666.5         91424-91538         c
            1246-1401           AL589666.5         87917-88072         c
            1402-1526           AL589666.5         87494-87618         c
            1527-1585           AL589666.5         86297-86355         c
            1586-1612           AL589666.5         83150-83176         c
            1613-1745           AL589666.5         81104-81236         c
            1746-1947           AL589666.5         77911-78112         c
            1948-2031           AL589666.5         74504-74587         c
            2032-2132           AL589666.5         72574-72674         c
            2133-2244           AL589666.5         70438-70549         c
            2245-2285           AL589666.5         62320-62360         c
            2286-2405           AL589666.5         62068-62187         c
            2406-2529           AL589666.5         58818-58941         c
            2530-2694           AL589666.5         58382-58546         c
            2695-2790           AL589666.5         58112-58207         c
            2791-2882           AL589666.5         52280-52371         c
            2883-2939           AL589666.5         51545-51601         c
            2940-3449           AL589666.5         49808-50317         c
FEATURES             Location/Qualifiers
     source          1..3449
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..3449
                     /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..2978
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="isoform f is encoded by transcript variant 6"
                     /codon_start=1
                     /product="sorting nexin-14 isoform f"
                     /protein_id="NP_001337462.1"
                     /db_xref="CCDS:CCDS93960.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
                     /translation="MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLL
                     LNRYIHILMIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKLGLQELFPQGHSCAV
                     CGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVLELVLENFVYPWYRDVTDDES
                     FVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKVKNTEFLQ
                     QAALEEYGPELHVALRSRRDELHYLRKLTELLFPYILPPKATDCRSLTLLIREILSGS
                     VFLPSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPFLQKFAEPRNKKPSVLKL
                     ELKQIREQQDLLFRFMNFLKQEGAVHVLQFCLTVEEFNDRILRPELSNDEMLSLHEEL
                     QKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLFEAYEHVLSLLE
                     NVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDDFRNTQKRGESFGISRIGSK
                     IKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVSTPNTPRNLAAWKI
                     SIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEPEHWSVYRRYLEFYVLES
                     KLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQHPELSNSQLLADFL
                     SPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPFIMNFINSCESPKPKPSR
                     PELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMTVEGVYDYLMYVGR
                     VVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQEHRLVSLITLLRDAIFC
                     ENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRLLFDGLQQPVLNKQ
                     LTYVLLDIVIQELFPELNKVQKEVTSVTSWM"
     exon            281..401
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            402..475
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            476..554
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            555..598
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            599..686
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            687..771
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            772..928
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1004
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1005..1049
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1050..1130
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1245
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1246..1401
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1526
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1527..1585
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..1612
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1613..1745
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1746..1947
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1948..2031
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2032..2132
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2133..2244
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2245..2285
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2286..2405
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2406..2529
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2530..2694
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2695..2790
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2791..2882
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2883..2939
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2940..3449
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3112..3117
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3147
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="major polyA site"
     regulatory      3416..3421
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3449
                     /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 gttaggactt caggaattat
      421 ttcctcaagg tcatagctgt gctgtttgtg gtaaagtgaa atgtaaacga cataggcctt
      481 ctttgctact tgaaaactac cagccatggc tagacctgaa aatttcttcc aaggttgatg
      541 catctctctc agaggttctt gaattagtgt tggaaaactt tgtttatccg tggtacaggg
      601 atgtgacaga tgatgaatcc tttgttgatg aactgagaat aacattacgt ttttttgcat
      661 ctgtcttaat aagaaggatt cacaaggtgg atattccatc tattataacc aagaaactat
      721 taaaagcagc aatgaagcat atagaagtga tagttaaagc cagacagaaa gtaaaaaata
      781 cagagttttt acagcaagct gctttagaag aatatggtcc agagcttcat gttgctttga
      841 gaagtcgaag agatgaattg cactatttaa ggaaacttac tgaactgctt tttccttata
      901 ttttgcctcc taaagcaaca gactgcagat ctctgacctt acttataaga gagattctgt
      961 ctggctctgt gttccttcct tctttggatt tcctagctga tccagatact gtgaatcatt
     1021 tgcttatcat cttcatagat gacagtccac ctgaaaaagc aactgaaccg gcttctcctt
     1081 tggttccatt cttgcagaaa tttgcagaac ctagaaataa aaagccatct gtgctgaagt
     1141 tagaattgaa gcaaatcaga gagcaacaag atcttttatt tcgttttatg aactttctga
     1201 aacaagaagg cgcagtgcac gtgttgcagt tttgtttgac tgtggaggaa tttaatgata
     1261 gaattttacg accagaatta tcaaatgatg aaatgctgtc tcttcatgaa gaattgcaga
     1321 agatttataa aacatactgt ttggatgaaa gtattgacaa aattagattt gatcccttca
     1381 ttgtagaaga gattcaaaga attgctgaag gcccatacat agatgttgtg aaacttcaaa
     1441 ctatgagatg tctttttgaa gcatatgaac atgttctttc ccttttggag aatgtattta
     1501 ctcctatgtt ctgccatagt gatgagtatt tcagacaact tttaagaggt gcagaatcac
     1561 caacacgcaa ttcaaaattg aacagaggta gcctaagttt ggatgatttt cggaacacac
     1621 agaaaagggg agaatcattt ggaatcagca gaataggtag caaaattaaa ggagtattca
     1681 aaagtaccac aatggaggga gctatgttgc ctaattatgg tgtagctgaa ggtgaagatg
     1741 attttattga agaaggtatt gttgtaatgg aagatgattc tccagtggag gctgtgagca
     1801 cacctaatac tccccgaaac cttgctgcat ggaaaattag cattccatat gtagactttt
     1861 ttgaggatcc ctcctctgaa aggaaggaga aaaaagaaag aattcctgtg ttttgtattg
     1921 atgttgaaag aaatgataga agagcagttg gacacgagcc tgaacattgg tctgtctata
     1981 gaagatatct tgaattctat gtacttgaat caaaactaac agaatttcat ggtgcatttc
     2041 ctgatgccca gcttccttct aagaggatca ttggccccaa aaattatgaa ttcttaaagt
     2101 caaagaggga agagttccaa gaatatctac agaaacttct gcagcatcca gaactgagta
     2161 atagtcaact tctggcagac tttctttccc ctaatggtgg ggaaacacaa tttcttgata
     2221 agatactacc agatgtaaat cttgggaaaa ttataaaatc tgttcctgga aaactaatga
     2281 aagagaaagg tcagcatttg gaacctttta tcatgaattt cattaattct tgtgagtctc
     2341 caaagcctaa accaagtaga ccagaactga ccattctcag ccctacttca gaaaacaaca
     2401 agaagctttt caatgatctg tttaaaaata atgcaaaccg tgctgaaaat acagagagaa
     2461 agcaaaatca gaattatttt atggaggtga tgactgtaga aggagtctat gattacctga
     2521 tgtatgtagg acgggtagtt ttccaggttc ctgactggct tcatcatctc ttaatgggaa
     2581 ctcgaatcct ctttaaaaac accctggaaa tgtatactga ttactatctt cagtgtaaac
     2641 tagaacagct atttcaggag caccgtttgg tctcactcat aacacttctc agagatgcta
     2701 tattctgtga aaacactgaa cctcgctctc tccaagataa gcaaaaagga gcaaaacaga
     2761 cttttgaaga aatgatgaat tacattccag atctgttagt caagtgtatt ggtgaagaaa
     2821 ccaagtatga aagcatcaga cttctgtttg atggcttaca gcaaccagta ctcaacaagc
     2881 agctgactta tgttttattg gacattgtga tacaggaact gtttccagag ctcaataagg
     2941 tacaaaagga agttacctct gtgacatctt ggatgtaaac acttggattt ggtatagaat
     3001 aacccattga aatttctgct gtgcgagggt ggtagaaatt tacttttttg ggtatattct
     3061 tatatatatt atgtacatcg ctgtctgaaa ttttagttat tttttgtttt taataaagac
     3121 taacacaaac ttaatgatta aaagtgattg agtctcatag tctttcattt gctagctgtg
     3181 atccaaattt tattagaaca taagtcactt gttattgcca tttttaaaag agaaaattca
     3241 taatgatgtt atggcaaaca gataagactg ataaacttcg tattgtatag ctttgaaaat
     3301 aattatgcct agtatggaga aacaggaata agatctgatt ttcttagagt taatatattt
     3361 tagtagattg gttttccttt tttttatttt gtacatagtt aactgtgtat ctataaataa
     3421 agcatcctat atgagttttt aataataaa
//
