LOCUS       NM_001350538            3308 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens sorting nexin 14 (SNX14), transcript variant 11, mRNA.
ACCESSION   NM_001350538
VERSION     NM_001350538.2
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 3308)
  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 3308)
  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 3308)
  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 3308)
  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 3308)
  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 3308)
  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 3308)
  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 3308)
  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 3308)
  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 3308)
  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_001350538.1.
            
            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##
            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
            775-787             AL589666.5         94035-94047         c
            788-863             AL589666.5         92613-92688         c
            864-908             AL589666.5         91818-91862         c
            909-989             AL589666.5         91629-91709         c
            990-1104            AL589666.5         91424-91538         c
            1105-1260           AL589666.5         87917-88072         c
            1261-1385           AL589666.5         87494-87618         c
            1386-1444           AL589666.5         86297-86355         c
            1445-1471           AL589666.5         83150-83176         c
            1472-1604           AL589666.5         81104-81236         c
            1605-1806           AL589666.5         77911-78112         c
            1807-1890           AL589666.5         74504-74587         c
            1891-1991           AL589666.5         72574-72674         c
            1992-2103           AL589666.5         70438-70549         c
            2104-2144           AL589666.5         62320-62360         c
            2145-2264           AL589666.5         62068-62187         c
            2265-2388           AL589666.5         58818-58941         c
            2389-2553           AL589666.5         58382-58546         c
            2554-2649           AL589666.5         58112-58207         c
            2650-2741           AL589666.5         52280-52371         c
            2742-2798           AL589666.5         51545-51601         c
            2799-3308           AL589666.5         49808-50317         c
FEATURES             Location/Qualifiers
     source          1..3308
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..3308
                     /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..2837
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="isoform k is encoded by transcript variant 11"
                     /codon_start=1
                     /product="sorting nexin-14 isoform k"
                     /protein_id="NP_001337467.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
                     /translation="MVPWVRTMGQKLKQRLRLDVGREICRQYPLFCFLLLCLSAASLL
                     LNRYIHILMIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFPQGHSCA
                     VCGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVLELVLENFVYPWYRDVTDDE
                     SFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKATDCRSL
                     TLLIREILSGSVFLPSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPFLQKFAE
                     PRNKKPSVLKLELKQIREQQDLLFRFMNFLKQEGAVHVLQFCLTVEEFNDRILRPELS
                     NDEMLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQTMRCLF
                     EAYEHVLSLLENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDDFRNTQKRG
                     ESFGISRIGSKIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPVEAVSTP
                     NTPRNLAAWKISIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEPEHWSVY
                     RRYLEFYVLESKLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQKLLQHPE
                     LSNSQLLADFLSPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPFIMNFIN
                     SCESPKPKPSRPELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMTVE
                     GVYDYLMYVGRVVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQEHRLVS
                     LITLLRDAIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRLLF
                     DGLQQPVLNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM"
     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..787
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            788..863
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            864..908
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            909..989
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            990..1104
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1105..1260
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1261..1385
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1386..1444
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1445..1471
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1472..1604
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1806
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1807..1890
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1891..1991
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1992..2103
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2104..2144
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2145..2264
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2265..2388
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2389..2553
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2554..2649
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2650..2741
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2742..2798
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2799..3308
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2971..2976
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3006
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="major polyA site"
     regulatory      3275..3280
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3308
                     /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 aaagcaacag
      781 actgcagatc tctgacctta cttataagag agattctgtc tggctctgtg ttccttcctt
      841 ctttggattt cctagctgat ccagatactg tgaatcattt gcttatcatc ttcatagatg
      901 acagtccacc tgaaaaagca actgaaccgg cttctccttt ggttccattc ttgcagaaat
      961 ttgcagaacc tagaaataaa aagccatctg tgctgaagtt agaattgaag caaatcagag
     1021 agcaacaaga tcttttattt cgttttatga actttctgaa acaagaaggc gcagtgcacg
     1081 tgttgcagtt ttgtttgact gtggaggaat ttaatgatag aattttacga ccagaattat
     1141 caaatgatga aatgctgtct cttcatgaag aattgcagaa gatttataaa acatactgtt
     1201 tggatgaaag tattgacaaa attagatttg atcccttcat tgtagaagag attcaaagaa
     1261 ttgctgaagg cccatacata gatgttgtga aacttcaaac tatgagatgt ctttttgaag
     1321 catatgaaca tgttctttcc cttttggaga atgtatttac tcctatgttc tgccatagtg
     1381 atgagtattt cagacaactt ttaagaggtg cagaatcacc aacacgcaat tcaaaattga
     1441 acagaggtag cctaagtttg gatgattttc ggaacacaca gaaaagggga gaatcatttg
     1501 gaatcagcag aataggtagc aaaattaaag gagtattcaa aagtaccaca atggagggag
     1561 ctatgttgcc taattatggt gtagctgaag gtgaagatga ttttattgaa gaaggtattg
     1621 ttgtaatgga agatgattct ccagtggagg ctgtgagcac acctaatact ccccgaaacc
     1681 ttgctgcatg gaaaattagc attccatatg tagacttttt tgaggatccc tcctctgaaa
     1741 ggaaggagaa aaaagaaaga attcctgtgt tttgtattga tgttgaaaga aatgatagaa
     1801 gagcagttgg acacgagcct gaacattggt ctgtctatag aagatatctt gaattctatg
     1861 tacttgaatc aaaactaaca gaatttcatg gtgcatttcc tgatgcccag cttccttcta
     1921 agaggatcat tggccccaaa aattatgaat tcttaaagtc aaagagggaa gagttccaag
     1981 aatatctaca gaaacttctg cagcatccag aactgagtaa tagtcaactt ctggcagact
     2041 ttctttcccc taatggtggg gaaacacaat ttcttgataa gatactacca gatgtaaatc
     2101 ttgggaaaat tataaaatct gttcctggaa aactaatgaa agagaaaggt cagcatttgg
     2161 aaccttttat catgaatttc attaattctt gtgagtctcc aaagcctaaa ccaagtagac
     2221 cagaactgac cattctcagc cctacttcag aaaacaacaa gaagcttttc aatgatctgt
     2281 ttaaaaataa tgcaaaccgt gctgaaaata cagagagaaa gcaaaatcag aattatttta
     2341 tggaggtgat gactgtagaa ggagtctatg attacctgat gtatgtagga cgggtagttt
     2401 tccaggttcc tgactggctt catcatctct taatgggaac tcgaatcctc tttaaaaaca
     2461 ccctggaaat gtatactgat tactatcttc agtgtaaact agaacagcta tttcaggagc
     2521 accgtttggt ctcactcata acacttctca gagatgctat attctgtgaa aacactgaac
     2581 ctcgctctct ccaagataag caaaaaggag caaaacagac ttttgaagaa atgatgaatt
     2641 acattccaga tctgttagtc aagtgtattg gtgaagaaac caagtatgaa agcatcagac
     2701 ttctgtttga tggcttacag caaccagtac tcaacaagca gctgacttat gttttattgg
     2761 acattgtgat acaggaactg tttccagagc tcaataaggt acaaaaggaa gttacctctg
     2821 tgacatcttg gatgtaaaca cttggatttg gtatagaata acccattgaa atttctgctg
     2881 tgcgagggtg gtagaaattt acttttttgg gtatattctt atatatatta tgtacatcgc
     2941 tgtctgaaat tttagttatt ttttgttttt aataaagact aacacaaact taatgattaa
     3001 aagtgattga gtctcatagt ctttcatttg ctagctgtga tccaaatttt attagaacat
     3061 aagtcacttg ttattgccat ttttaaaaga gaaaattcat aatgatgtta tggcaaacag
     3121 ataagactga taaacttcgt attgtatagc tttgaaaata attatgccta gtatggagaa
     3181 acaggaataa gatctgattt tcttagagtt aatatatttt agtagattgg ttttcctttt
     3241 ttttattttg tacatagtta actgtgtatc tataaataaa gcatcctata tgagttttta
     3301 ataataaa
//
