LOCUS       NM_153816               3452 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.
ACCESSION   NM_153816
VERSION     NM_153816.6
KEYWORDS    RefSeq; MANE Select.
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 3452)
  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 3452)
  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 3452)
  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 3452)
  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 3452)
  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 3452)
  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 3452)
  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 3452)
  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 3452)
  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 3452)
  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 DA491624.1, BC095419.1,
            BC005110.1 and CB054302.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_153816.5.
            
            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].
            
            Transcript Variant: This variant (1) encodes isoform a.
            
            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 :: BC068589.1, AK000362.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314673.8/ ENSP00000313121.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-117               DA491624.1         275-391
            118-2225            BC095419.1         1-2108
            2226-3150           BC005110.1         2094-3018
            3151-3452           CB054302.1         21-322              c
FEATURES             Location/Qualifiers
     source          1..3452
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..3452
                     /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..2981
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="isoform a is encoded by transcript variant 1"
                     /codon_start=1
                     /product="sorting nexin-14 isoform a"
                     /protein_id="NP_722523.1"
                     /db_xref="CCDS:CCDS5004.1"
                     /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
                     RPELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFMEVMTVEGVYDYLMYVG
                     RVVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQEHRLVSLITLLRDAIF
                     CENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYESIRLLFDGLQQPVLNK
                     QLTYVLLDIVIQELFPELNKVQKEVTSVTSWM"
     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..2697
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2698..2793
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2794..2885
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2886..2942
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2943..3452
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3115..3120
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3150
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="major polyA site"
     regulatory      3419..3424
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3452
                     /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 aggacgggta gttttccagg ttcctgactg gcttcatcat ctcttaatgg
     2581 gaactcgaat cctctttaaa aacaccctgg aaatgtatac tgattactat cttcagtgta
     2641 aactagaaca gctatttcag gagcaccgtt tggtctcact cataacactt ctcagagatg
     2701 ctatattctg tgaaaacact gaacctcgct ctctccaaga taagcaaaaa ggagcaaaac
     2761 agacttttga agaaatgatg aattacattc cagatctgtt agtcaagtgt attggtgaag
     2821 aaaccaagta tgaaagcatc agacttctgt ttgatggctt acagcaacca gtactcaaca
     2881 agcagctgac ttatgtttta ttggacattg tgatacagga actgtttcca gagctcaata
     2941 aggtacaaaa ggaagttacc tctgtgacat cttggatgta aacacttgga tttggtatag
     3001 aataacccat tgaaatttct gctgtgcgag ggtggtagaa atttactttt ttgggtatat
     3061 tcttatatat attatgtaca tcgctgtctg aaattttagt tattttttgt ttttaataaa
     3121 gactaacaca aacttaatga ttaaaagtga ttgagtctca tagtctttca tttgctagct
     3181 gtgatccaaa ttttattaga acataagtca cttgttattg ccatttttaa aagagaaaat
     3241 tcataatgat gttatggcaa acagataaga ctgataaact tcgtattgta tagctttgaa
     3301 aataattatg cctagtatgg agaaacagga ataagatctg attttcttag agttaatata
     3361 ttttagtaga ttggttttcc ttttttttat tttgtacata gttaactgtg tatctataaa
     3421 taaagcatcc tatatgagtt tttaataata aa
//
