LOCUS       NM_013346               2286 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens sorting nexin 12 (SNX12), transcript variant 2, mRNA.
ACCESSION   NM_013346
VERSION     NM_013346.4
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 2286)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 2286)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2286)
  AUTHORS   Priya,A., Sugatha,J., Parveen,S., Lacas-Gervais,S., Raj,P.,
            Gilleron,J. and Datta,S.
  TITLE     Essential and selective role of SNX12 in transport of endocytic and
            retrograde cargo
  JOURNAL   J Cell Sci 130 (16), 2707-2721 (2017)
   PUBMED   28705836
  REMARK    GeneRIF: SNX12 plays a key role in intraluminal vesicle formation
            and in the maturation of a subpopulation of early endosomes into
            late endosomes, thereby regulating selective endocytic transport of
            cargo for degradation.
REFERENCE   4  (bases 1 to 2286)
  AUTHORS   Zhao,Y., Wang,Y., Yang,J., Wang,X., Zhao,Y., Zhang,X. and
            Zhang,Y.W.
  TITLE     Sorting nexin 12 interacts with BACE1 and regulates BACE1-mediated
            APP processing
  JOURNAL   Mol Neurodegener 7, 30 (2012)
   PUBMED   22709416
  REMARK    GeneRIF: SNX12 protein level is dramatically decreased in the brain
            of Alzheimer's disease patients as compared to that of controls.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2286)
  AUTHORS   Pons,V., Ustunel,C., Rolland,C., Torti,E., Parton,R.G. and
            Gruenberg,J.
  TITLE     SNX12 role in endosome membrane transport
  JOURNAL   PLoS One 7 (6), e38949 (2012)
   PUBMED   22719997
  REMARK    GeneRIF: find that overexpression of SNX12 restores the sorting
            process in an Hrs knockdown background. Altogether, our data show
            that despite lower expression level, SNX12 shares redundant
            functions with SNX3 in the biogenesis of multivesicular endosomes
REFERENCE   6  (bases 1 to 2286)
  AUTHORS   Wu,C., Ma,M.H., Brown,K.R., Geisler,M., Li,L., Tzeng,E., Jia,C.Y.,
            Jurisica,I. and Li,S.S.
  TITLE     Systematic identification of SH3 domain-mediated human
            protein-protein interactions by peptide array target screening
  JOURNAL   Proteomics 7 (11), 1775-1785 (2007)
   PUBMED   17474147
REFERENCE   7  (bases 1 to 2286)
  AUTHORS   Wesselkamper,S.C., McDowell,S.A., Medvedovic,M., Dalton,T.P.,
            Deshmukh,H.S., Sartor,M.A., Case,L.M., Henning,L.N., Borchers,M.T.,
            Tomlinson,C.R., Prows,D.R. and Leikauf,G.D.
  TITLE     The role of metallothionein in the pathogenesis of acute lung
            injury
  JOURNAL   Am J Respir Cell Mol Biol 34 (1), 73-82 (2006)
   PUBMED   16166738
  REMARK    GeneRIF: Metallothionein deficient mice have a marked decrease in
            Snx12 during acute lung injury
REFERENCE   8  (bases 1 to 2286)
  AUTHORS   Rush,J., Moritz,A., Lee,K.A., Guo,A., Goss,V.L., Spek,E.J.,
            Zhang,H., Zha,X.M., Polakiewicz,R.D. and Comb,M.J.
  TITLE     Immunoaffinity profiling of tyrosine phosphorylation in cancer
            cells
  JOURNAL   Nat Biotechnol 23 (1), 94-101 (2005)
   PUBMED   15592455
REFERENCE   9  (bases 1 to 2286)
  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   10 (bases 1 to 2286)
  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
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC103847.2, AL590764.3 and
            BC024301.1.
            
            On Nov 24, 2018 this sequence version replaced NM_013346.3.
            
            Summary: This gene encodes a member of the sorting nexin family.
            Members of this family contain a phox (PX) domain, which is a
            phosphoinositide binding domain, and are involved in intracellular
            trafficking. This protein does not contain a coiled coil region,
            like some family members. A similar protein in mouse may be
            involved in regulating the neurite outgrowth. Alternate splicing
            results in multiple transcript variants. [provided by RefSeq, Jan
            2012].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            represents use of an alternate promoter, compared to variant 1.
            Both variants 1 and 2 encode the same isoform (1).
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: DB201707.1, AL555441.3 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968832,
                                           SAMEA2142586 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374274.8/ ENSP00000363392.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-542               BC103847.2         5-546
            543-1891            AL590764.3         65408-66756         c
            1892-2286           BC024301.1         1056-1450
FEATURES             Location/Qualifiers
     source          1..2286
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq13.1"
     gene            1..2286
                     /gene="SNX12"
                     /note="sorting nexin 12"
                     /db_xref="GeneID:29934"
                     /db_xref="HGNC:HGNC:14976"
                     /db_xref="MIM:300883"
     exon            1..193
                     /gene="SNX12"
                     /inference="alignment:Splign:2.1.0"
     CDS             29..517
                     /gene="SNX12"
                     /note="isoform 1 is encoded by transcript variant 2"
                     /codon_start=1
                     /product="sorting nexin-12 isoform 1"
                     /protein_id="NP_037478.2"
                     /db_xref="CCDS:CCDS14405.1"
                     /db_xref="GeneID:29934"
                     /db_xref="HGNC:HGNC:14976"
                     /db_xref="MIM:300883"
                     /translation="MSDTAVADTRRLNSKPQDLTDAYGPPSNFLEIDIFNPQTVGVGR
                     ARFTTYEVRMRTNLPIFKLKESCVRRRYSDFEWLKNELERDSKIVVPPLPGKALKRQL
                     PFRGDEGIFEESFIEERRQGLEQFINKIAGHPLAQNERCLHMFLQEEAIDRNYVPGKV
                     RQ"
     exon            194..289
                     /gene="SNX12"
                     /inference="alignment:Splign:2.1.0"
     exon            290..414
                     /gene="SNX12"
                     /inference="alignment:Splign:2.1.0"
     exon            415..2286
                     /gene="SNX12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2267..2272
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SNX12"
                     /note="hexamer: ATTAAA"
     polyA_site      2286
                     /gene="SNX12"
                     /note="major polyA site"
ORIGIN      
        1 ccccggtccc aggctctcct tcggaaagat gtcggacacg gcagtagctg atacccggcg
       61 ccttaactcg aagccgcagg acctgaccga cgcttacggg ccgccaagta acttcctgga
      121 gatcgacatc tttaatcctc agacggtggg cgtgggacgc gcgcgcttca ccacctatga
      181 ggttcgcatg cggacaaacc tacctatctt caagctaaag gagtcctgcg tacggcggcg
      241 ctacagtgac tttgagtggc tgaaaaatga gctggagaga gatagcaaga ttgtagtacc
      301 accactgcct gggaaagcct tgaagcggca gctccctttc cgaggagatg aagggatctt
      361 tgaggagtct ttcatcgaag aaaggaggca gggcctcgag cagtttatta acaaaattgc
      421 tgggcaccca ctggctcaga atgaacgctg cctacacatg ttcctgcaag aggaggcaat
      481 tgacaggaac tacgtcccgg ggaaggtgcg ccagtaggag cccctctcac cacctgccct
      541 ctactttcct gctgaaatga cattggtttt tacactaagc ctctctctgt ctttgatctg
      601 aagttggctg cccatctcct ggcctgatag actgtctggc attgtgctcc ctggtacctg
      661 actacaccat gtgggcactc tgctaggatc ctcttctctg aggagaggtg ggaacccaca
      721 ggcagatgcc ctttgcttgg ggttggggtg ggtgggtggg gggattagac tggaaggcaa
      781 tttcttgggc atttacccat gccagaaggc taacctgggg ggaggggggc gcttgtgctg
      841 gtgaggcact tggatacata ctgatgctgc aagttcaggg gatttttctt actcttaggt
      901 ttaaccaaga acactgagca gggaaaaacc ctgcctttcc taactgcatg tattttttcc
      961 tttttggaaa ggtggtagag actcagaagc tttccttgtt ttcttcaggc ctgctcccag
     1021 ttttcttaac agtttctttt gttgctttct ctctcccttg ttgctttcca tggcagtaat
     1081 cctcctagag tccaagcagt ctgttgtatg gagcagggtg tgtgggtttt ctgggcccat
     1141 cattatggct gcttcagagt cagaagaaag ccatagggca gtaggggagc tcctattgcc
     1201 tagcccctct ccctttgtgg ctcccactct agctgcctat ttttgctcat cagctggtga
     1261 gtcagtatgg gccagcagtt ctccctccct aagcccttgc tactttatgg gttagctttg
     1321 caggtttggt ggcttgaggg gtgggggcaa ctcaccactg ccaggtaact ccctgaaggg
     1381 tgggagtgga ttatcttcta ggctcttacc cgcggtaggg aagggcatca acactgtctt
     1441 ccttccattc tcctttcccc catcccattt agtgctgcca cagggcagaa gcacacaaac
     1501 caaccacaca gtctctgact tctcctaagc actttgagtt gttgaatggg gctcaggggc
     1561 aagagttttt gctgccctcc ccagcgtggt cacagggtta ttgaactgcc tgcacttgtt
     1621 tctcatgcaa ctccagcatt ttccccagaa gttgaactat ggatagcagc ttggtatgga
     1681 tttcctaaat cttaacattt gaagcagctt cttgaggctg gcaactatcc tggtttctgt
     1741 cttggagggg gtggtttgtt tgctggggcc caacgtctgt cccaagtggt ggggtgagag
     1801 taagttaact ttggtgccag gtgagaggtg ggggctcttt gcttagactc cctatcatgg
     1861 aaagattgga gttttctatg cagggcactg tggaaaagga ttgctgattc tgactgaccc
     1921 tgatcagaga gattaggatt gtattttgac ataggatttg gaacccatct aaatgttgaa
     1981 gttccctgag acagctctcc agctgctgag cctgcgccag gggctaagca gcccctaatg
     2041 agaggctctg ctccctttcc cacctcgcca atgttgttgt tgctgccttt ttgatttgta
     2101 tcctctgtta tagacatttt ttaaaaacga tttcctcttt cattgtgcac aagtgctgag
     2161 agtctgaggc cccatttctg ctgtgtatat atatcctgac tcggggcttt tattcagcaa
     2221 actgttcatt cttctgtcag acaatgtcat attcaactct gttcatatta aaccactgtg
     2281 aagcaa
//
