LOCUS       NM_001350544            3053 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens sorting nexin 14 (SNX14), transcript variant 17, mRNA.
ACCESSION   NM_001350544
VERSION     NM_001350544.2
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 3053)
  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 3053)
  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 3053)
  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 3053)
  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 3053)
  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 3053)
  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 3053)
  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 3053)
  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 3053)
  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 3053)
  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_001350544.1.
            
            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
            1-25                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
            520-532             AL589666.5         94035-94047         c
            533-608             AL589666.5         92613-92688         c
            609-653             AL589666.5         91818-91862         c
            654-734             AL589666.5         91629-91709         c
            735-849             AL589666.5         91424-91538         c
            850-1005            AL589666.5         87917-88072         c
            1006-1130           AL589666.5         87494-87618         c
            1131-1189           AL589666.5         86297-86355         c
            1190-1216           AL589666.5         83150-83176         c
            1217-1349           AL589666.5         81104-81236         c
            1350-1551           AL589666.5         77911-78112         c
            1552-1635           AL589666.5         74504-74587         c
            1636-1736           AL589666.5         72574-72674         c
            1737-1848           AL589666.5         70438-70549         c
            1849-1889           AL589666.5         62320-62360         c
            1890-2009           AL589666.5         62068-62187         c
            2010-2133           AL589666.5         58818-58941         c
            2134-2298           AL589666.5         58382-58546         c
            2299-2394           AL589666.5         58112-58207         c
            2395-2486           AL589666.5         52280-52371         c
            2487-2543           AL589666.5         51545-51601         c
            2544-3053           AL589666.5         49808-50317         c
FEATURES             Location/Qualifiers
     source          1..3053
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     gene            1..3053
                     /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"
     CDS             42..2582
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="isoform q is encoded by transcript variant 17"
                     /codon_start=1
                     /product="sorting nexin-14 isoform q"
                     /protein_id="NP_001337473.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
                     /translation="MIFWSFVAGVVTFYCSLGPDSLLPNIFFTIKYKPKQLGLQELFP
                     QGHSCAVCGKVKCKRHRPSLLLENYQPWLDLKISSKVDASLSEVLELVLENFVYPWYR
                     DVTDDESFVDELRITLRFFASVLIRRIHKVDIPSIITKKLLKAAMKHIEVIVKARQKA
                     TDCRSLTLLIREILSGSVFLPSLDFLADPDTVNHLLIIFIDDSPPEKATEPASPLVPF
                     LQKFAEPRNKKPSVLKLELKQIREQQDLLFRFMNFLKQEGAVHVLQFCLTVEEFNDRI
                     LRPELSNDEMLSLHEELQKIYKTYCLDESIDKIRFDPFIVEEIQRIAEGPYIDVVKLQ
                     TMRCLFEAYEHVLSLLENVFTPMFCHSDEYFRQLLRGAESPTRNSKLNRGSLSLDDFR
                     NTQKRGESFGISRIGSKIKGVFKSTTMEGAMLPNYGVAEGEDDFIEEGIVVMEDDSPV
                     EAVSTPNTPRNLAAWKISIPYVDFFEDPSSERKEKKERIPVFCIDVERNDRRAVGHEP
                     EHWSVYRRYLEFYVLESKLTEFHGAFPDAQLPSKRIIGPKNYEFLKSKREEFQEYLQK
                     LLQHPELSNSQLLADFLSPNGGETQFLDKILPDVNLGKIIKSVPGKLMKEKGQHLEPF
                     IMNFINSCESPKPKPSRPELTILSPTSENNKKLFNDLFKNNANRAENTERKQNQNYFM
                     EVMTVEGVYDYLMYVGRVVFQVPDWLHHLLMGTRILFKNTLEMYTDYYLQCKLEQLFQ
                     EHRLVSLITLLRDAIFCENTEPRSLQDKQKGAKQTFEEMMNYIPDLLVKCIGEETKYE
                     SIRLLFDGLQQPVLNKQLTYVLLDIVIQELFPELNKVQKEVTSVTSWM"
     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..532
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            533..608
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            609..653
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            654..734
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            735..849
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            850..1005
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1006..1130
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1189
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1190..1216
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1217..1349
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1551
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1552..1635
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1636..1736
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1737..1848
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1849..1889
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            1890..2009
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2010..2133
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2134..2298
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2299..2394
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2395..2486
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2487..2543
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     exon            2544..3053
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2716..2721
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      2751
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="major polyA site"
     regulatory      3020..3025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /note="hexamer: AATAAA"
     polyA_site      3053
                     /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 gacagaaagc aacagactgc agatctctga
      541 ccttacttat aagagagatt ctgtctggct ctgtgttcct tccttctttg gatttcctag
      601 ctgatccaga tactgtgaat catttgctta tcatcttcat agatgacagt ccacctgaaa
      661 aagcaactga accggcttct cctttggttc cattcttgca gaaatttgca gaacctagaa
      721 ataaaaagcc atctgtgctg aagttagaat tgaagcaaat cagagagcaa caagatcttt
      781 tatttcgttt tatgaacttt ctgaaacaag aaggcgcagt gcacgtgttg cagttttgtt
      841 tgactgtgga ggaatttaat gatagaattt tacgaccaga attatcaaat gatgaaatgc
      901 tgtctcttca tgaagaattg cagaagattt ataaaacata ctgtttggat gaaagtattg
      961 acaaaattag atttgatccc ttcattgtag aagagattca aagaattgct gaaggcccat
     1021 acatagatgt tgtgaaactt caaactatga gatgtctttt tgaagcatat gaacatgttc
     1081 tttccctttt ggagaatgta tttactccta tgttctgcca tagtgatgag tatttcagac
     1141 aacttttaag aggtgcagaa tcaccaacac gcaattcaaa attgaacaga ggtagcctaa
     1201 gtttggatga ttttcggaac acacagaaaa ggggagaatc atttggaatc agcagaatag
     1261 gtagcaaaat taaaggagta ttcaaaagta ccacaatgga gggagctatg ttgcctaatt
     1321 atggtgtagc tgaaggtgaa gatgatttta ttgaagaagg tattgttgta atggaagatg
     1381 attctccagt ggaggctgtg agcacaccta atactccccg aaaccttgct gcatggaaaa
     1441 ttagcattcc atatgtagac ttttttgagg atccctcctc tgaaaggaag gagaaaaaag
     1501 aaagaattcc tgtgttttgt attgatgttg aaagaaatga tagaagagca gttggacacg
     1561 agcctgaaca ttggtctgtc tatagaagat atcttgaatt ctatgtactt gaatcaaaac
     1621 taacagaatt tcatggtgca tttcctgatg cccagcttcc ttctaagagg atcattggcc
     1681 ccaaaaatta tgaattctta aagtcaaaga gggaagagtt ccaagaatat ctacagaaac
     1741 ttctgcagca tccagaactg agtaatagtc aacttctggc agactttctt tcccctaatg
     1801 gtggggaaac acaatttctt gataagatac taccagatgt aaatcttggg aaaattataa
     1861 aatctgttcc tggaaaacta atgaaagaga aaggtcagca tttggaacct tttatcatga
     1921 atttcattaa ttcttgtgag tctccaaagc ctaaaccaag tagaccagaa ctgaccattc
     1981 tcagccctac ttcagaaaac aacaagaagc ttttcaatga tctgtttaaa aataatgcaa
     2041 accgtgctga aaatacagag agaaagcaaa atcagaatta ttttatggag gtgatgactg
     2101 tagaaggagt ctatgattac ctgatgtatg taggacgggt agttttccag gttcctgact
     2161 ggcttcatca tctcttaatg ggaactcgaa tcctctttaa aaacaccctg gaaatgtata
     2221 ctgattacta tcttcagtgt aaactagaac agctatttca ggagcaccgt ttggtctcac
     2281 tcataacact tctcagagat gctatattct gtgaaaacac tgaacctcgc tctctccaag
     2341 ataagcaaaa aggagcaaaa cagacttttg aagaaatgat gaattacatt ccagatctgt
     2401 tagtcaagtg tattggtgaa gaaaccaagt atgaaagcat cagacttctg tttgatggct
     2461 tacagcaacc agtactcaac aagcagctga cttatgtttt attggacatt gtgatacagg
     2521 aactgtttcc agagctcaat aaggtacaaa aggaagttac ctctgtgaca tcttggatgt
     2581 aaacacttgg atttggtata gaataaccca ttgaaatttc tgctgtgcga gggtggtaga
     2641 aatttacttt tttgggtata ttcttatata tattatgtac atcgctgtct gaaattttag
     2701 ttattttttg tttttaataa agactaacac aaacttaatg attaaaagtg attgagtctc
     2761 atagtctttc atttgctagc tgtgatccaa attttattag aacataagtc acttgttatt
     2821 gccattttta aaagagaaaa ttcataatga tgttatggca aacagataag actgataaac
     2881 ttcgtattgt atagctttga aaataattat gcctagtatg gagaaacagg aataagatct
     2941 gattttctta gagttaatat attttagtag attggttttc ctttttttta ttttgtacat
     3001 agttaactgt gtatctataa ataaagcatc ctatatgagt ttttaataat aaa
//
