LOCUS       NP_722523                946 aa            linear   PRI 04-OCT-2024
DEFINITION  sorting nexin-14 isoform a [Homo sapiens].
ACCESSION   NP_722523
VERSION     NP_722523.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 946)
  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  (residues 1 to 946)
  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  (residues 1 to 946)
  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  (residues 1 to 946)
  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  (residues 1 to 946)
  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  (residues 1 to 946)
  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  (residues 1 to 946)
  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  (residues 1 to 946)
  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  (residues 1 to 946)
  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 (residues 1 to 946)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..946
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6q14.3"
     Protein         1..946
                     /product="sorting nexin-14 isoform a"
                     /calculated_mol_wt=110051
     Site            24..44
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5W7.3)"
     Site            49..69
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y5W7.3)"
     Region          130..299
                     /region_name="PXA"
                     /note="PXA domain; pfam02194"
                     /db_xref="CDD:460484"
     Region          340..466
                     /region_name="RGS_SNX14"
                     /note="Regulator of G protein signaling (RGS) domain found
                     in the Sorting Nexin14 (SNX14) protein; cd08722"
                     /db_xref="CDD:188677"
     Site            548
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:24275569; propagated from
                     UniProtKB/Swiss-Prot (Q9Y5W7.3)"
     Region          564..686
                     /region_name="PX_SNX14"
                     /note="The phosphoinositide binding Phox Homology domain
                     of Sorting Nexin 14; cd06877"
                     /db_xref="CDD:132787"
     Site            order(616..618,642..643,656)
                     /site_type="other"
                     /note="phosphoinositide binding site [chemical binding]"
                     /db_xref="CDD:132787"
     Region          807..911
                     /region_name="Nexin_C"
                     /note="Sorting nexin C terminal; pfam08628"
                     /db_xref="CDD:462541"
     CDS             1..946
                     /gene="SNX14"
                     /gene_synonym="RGS-PX2; SCAR20"
                     /coded_by="NM_153816.6:141..2981"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS5004.1"
                     /db_xref="GeneID:57231"
                     /db_xref="HGNC:HGNC:14977"
                     /db_xref="MIM:616105"
ORIGIN      
        1 mvpwvrtmgq klkqrlrldv greicrqypl fcflllclsa aslllnryih ilmifwsfva
       61 gvvtfycslg pdsllpniff tikykpkqlg lqelfpqghs cavcgkvkck rhrpslllen
      121 yqpwldlkis skvdaslsev lelvlenfvy pwyrdvtdde sfvdelritl rffasvlirr
      181 ihkvdipsii tkkllkaamk hievivkarq kvknteflqq aaleeygpel hvalrsrrde
      241 lhylrkltel lfpyilppka tdcrsltlli reilsgsvfl psldfladpd tvnhlliifi
      301 ddsppekate pasplvpflq kfaeprnkkp svlklelkqi reqqdllfrf mnflkqegav
      361 hvlqfcltve efndrilrpe lsndemlslh eelqkiykty cldesidkir fdpfiveeiq
      421 riaegpyidv vklqtmrclf eayehvlsll envftpmfch sdeyfrqllr gaesptrnsk
      481 lnrgslsldd frntqkrges fgisrigski kgvfksttme gamlpnygva egeddfieeg
      541 ivvmeddspv eavstpntpr nlaawkisip yvdffedpss erkekkerip vfcidvernd
      601 rravghepeh wsvyrrylef yvleskltef hgafpdaqlp skriigpkny eflkskreef
      661 qeylqkllqh pelsnsqlla dflspngget qfldkilpdv nlgkiiksvp gklmkekgqh
      721 lepfimnfin scespkpkps rpeltilspt sennkklfnd lfknnanrae nterkqnqny
      781 fmevmtvegv ydylmyvgrv vfqvpdwlhh llmgtrilfk ntlemytdyy lqckleqlfq
      841 ehrlvslitl lrdaifcent eprslqdkqk gakqtfeemm nyipdllvkc igeetkyesi
      901 rllfdglqqp vlnkqltyvl ldiviqelfp elnkvqkevt svtswm
//
