SNX19_HUMAN
ID SNX19_HUMAN Reviewed; 992 AA.
AC Q92543; E9PKB9; Q8IV55;
DT 01-NOV-1997, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 2.
DT 03-AUG-2022, entry version 168.
DE RecName: Full=Sorting nexin-19;
GN Name=SNX19; Synonyms=KIAA0254;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS LEU-361; PHE-618;
RP SER-753 AND ARG-878.
RA Hong W.;
RT "Kiaa0254 as a new member (SNX19) of sorting nexin family.";
RL Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS LEU-361;
RP PHE-618; SER-753 AND ARG-878.
RC TISSUE=Bone marrow;
RX PubMed=9039502; DOI=10.1093/dnares/3.5.321;
RA Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O.,
RA Tanaka A., Kotani H., Miyajima N., Nomura N.;
RT "Prediction of the coding sequences of unidentified human genes. VI. The
RT coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of
RT cDNA clones from cell line KG-1 and brain.";
RL DNA Res. 3:321-329(1996).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS LEU-361;
RP PHE-618 AND SER-753.
RC TISSUE=Brain;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [5]
RP INTERACTION WITH PTPRN.
RX PubMed=16273344; DOI=10.1007/s00125-005-0037-y;
RA Hu Y.F., Zhang H.L., Cai T., Harashima S., Notkins A.L.;
RT "The IA-2 interactome.";
RL Diabetologia 48:2576-2581(2005).
RN [6]
RP FUNCTION.
RX PubMed=24843546; DOI=10.1111/j.2040-1124.2011.00138.x;
RA Harashima S., Horiuchi T., Wang Y., Notkins A.L., Seino Y., Inagaki N.;
RT "Sorting nexin 19 regulates the number of dense core vesicles in pancreatic
RT beta-cells.";
RL J. Diabetes Investig. 3:52-61(2012).
CC -!- FUNCTION: Plays a role in intracellular vesicle trafficking and
CC exocytosis (PubMed:24843546). May play a role in maintaining insulin-
CC containing dense core vesicles in pancreatic beta-cells and in
CC preventing their degradation. May play a role in insulin secretion
CC (PubMed:24843546). Interacts with membranes containing
CC phosphatidylinositol 3-phosphate (PtdIns(3P)) (By similarity).
CC {ECO:0000250|UniProtKB:Q6P4T1, ECO:0000269|PubMed:24843546}.
CC -!- SUBUNIT: Interacts with PTPRN. {ECO:0000269|PubMed:16273344}.
CC -!- INTERACTION:
CC Q92543; Q16849: PTPRN; NbExp=4; IntAct=EBI-728232, EBI-728153;
CC -!- SUBCELLULAR LOCATION: Early endosome membrane
CC {ECO:0000250|UniProtKB:Q6P4T1}; Peripheral membrane protein
CC {ECO:0000250|UniProtKB:Q6P4T1}; Cytoplasmic side
CC {ECO:0000250|UniProtKB:Q6P4T1}. Cytoplasmic vesicle membrane
CC {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic
CC side {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q92543-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q92543-2; Sequence=VSP_057153, VSP_057154, VSP_057155;
CC -!- DOMAIN: The PX domain mediates specific binding to membranes enriched
CC in phosphatidylinositol 3-phosphate (PtdIns(P3)).
CC {ECO:0000250|UniProtKB:Q6P4T1}.
CC -!- SIMILARITY: Belongs to the sorting nexin family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA13384.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AF395843; AAK73124.1; -; mRNA.
DR EMBL; D87443; BAA13384.2; ALT_INIT; mRNA.
DR EMBL; AP000824; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001093; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031620; AAH31620.1; -; mRNA.
DR CCDS; CCDS31721.1; -. [Q92543-1]
DR CCDS; CCDS86261.1; -. [Q92543-2]
DR RefSeq; NP_001334847.1; NM_001347918.1.
DR RefSeq; NP_001334848.1; NM_001347919.1.
DR RefSeq; NP_001334849.1; NM_001347920.1.
DR RefSeq; NP_001334850.1; NM_001347921.1. [Q92543-2]
DR RefSeq; NP_001334851.1; NM_001347922.1.
DR RefSeq; NP_001334852.1; NM_001347923.1.
DR RefSeq; NP_001334853.1; NM_001347924.1.
DR RefSeq; NP_001334854.1; NM_001347925.1.
DR RefSeq; NP_001334855.1; NM_001347926.1.
DR RefSeq; NP_001334856.1; NM_001347927.1.
DR RefSeq; NP_055573.2; NM_014758.2. [Q92543-1]
DR AlphaFoldDB; Q92543; -.
DR SMR; Q92543; -.
DR BioGRID; 134476; 65.
DR IntAct; Q92543; 10.
DR MINT; Q92543; -.
DR STRING; 9606.ENSP00000265909; -.
DR GlyGen; Q92543; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; Q92543; -.
DR PhosphoSitePlus; Q92543; -.
DR BioMuta; SNX19; -.
DR DMDM; 296452910; -.
DR EPD; Q92543; -.
DR jPOST; Q92543; -.
DR MassIVE; Q92543; -.
DR MaxQB; Q92543; -.
DR PaxDb; Q92543; -.
DR PeptideAtlas; Q92543; -.
DR PRIDE; Q92543; -.
DR ProteomicsDB; 21412; -.
DR ProteomicsDB; 75304; -. [Q92543-1]
DR Antibodypedia; 2996; 97 antibodies from 27 providers.
DR DNASU; 399979; -.
DR Ensembl; ENST00000265909.9; ENSP00000265909.4; ENSG00000120451.11. [Q92543-1]
DR Ensembl; ENST00000533214.1; ENSP00000435390.1; ENSG00000120451.11. [Q92543-2]
DR GeneID; 399979; -.
DR KEGG; hsa:399979; -.
DR MANE-Select; ENST00000265909.9; ENSP00000265909.4; NM_014758.3; NP_055573.3.
DR UCSC; uc001qgk.5; human. [Q92543-1]
DR CTD; 399979; -.
DR DisGeNET; 399979; -.
DR GeneCards; SNX19; -.
DR HGNC; HGNC:21532; SNX19.
DR HPA; ENSG00000120451; Low tissue specificity.
DR neXtProt; NX_Q92543; -.
DR OpenTargets; ENSG00000120451; -.
DR PharmGKB; PA134904352; -.
DR VEuPathDB; HostDB:ENSG00000120451; -.
DR eggNOG; ENOG502QQBH; Eukaryota.
DR GeneTree; ENSGT00950000182856; -.
DR HOGENOM; CLU_012033_0_0_1; -.
DR InParanoid; Q92543; -.
DR OMA; PDWIHLI; -.
DR OrthoDB; 1342782at2759; -.
DR PhylomeDB; Q92543; -.
DR TreeFam; TF324055; -.
DR PathwayCommons; Q92543; -.
DR SignaLink; Q92543; -.
DR BioGRID-ORCS; 399979; 12 hits in 1077 CRISPR screens.
DR ChiTaRS; SNX19; human.
DR GenomeRNAi; 399979; -.
DR Pharos; Q92543; Tbio.
DR PRO; PR:Q92543; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q92543; protein.
DR Bgee; ENSG00000120451; Expressed in stromal cell of endometrium and 204 other tissues.
DR ExpressionAtlas; Q92543; baseline and differential.
DR Genevisible; Q92543; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:GO_Central.
DR GO; GO:0031901; C:early endosome membrane; IBA:GO_Central.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IBA:GO_Central.
DR GO; GO:0035091; F:phosphatidylinositol binding; IBA:GO_Central.
DR GO; GO:0002062; P:chondrocyte differentiation; IMP:GO_Central.
DR GO; GO:1990502; P:dense core granule maturation; IGI:GO_Central.
DR GO; GO:0051649; P:establishment of localization in cell; IEA:Ensembl.
DR GO; GO:0006887; P:exocytosis; IEA:UniProtKB-KW.
DR GO; GO:0030073; P:insulin secretion; IGI:GO_Central.
DR CDD; cd06893; PX_SNX19; 1.
DR Gene3D; 3.30.1520.10; -; 1.
DR InterPro; IPR003114; Phox_assoc.
DR InterPro; IPR001683; PX_dom.
DR InterPro; IPR036871; PX_dom_sf.
DR InterPro; IPR034908; SNX19.
DR InterPro; IPR037909; SNX19_PX.
DR InterPro; IPR013937; Sorting_nexin_C.
DR PANTHER; PTHR22775:SF31; PTHR22775:SF31; 1.
DR Pfam; PF08628; Nexin_C; 1.
DR Pfam; PF00787; PX; 1.
DR Pfam; PF02194; PXA; 1.
DR SMART; SM00312; PX; 1.
DR SMART; SM00313; PXA; 1.
DR SUPFAM; SSF64268; SSF64268; 1.
DR PROSITE; PS50195; PX; 1.
DR PROSITE; PS51207; PXA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasmic vesicle; Endosome; Exocytosis;
KW Lipid-binding; Membrane; Protein transport; Reference proteome; Transport.
FT CHAIN 1..992
FT /note="Sorting nexin-19"
FT /id="PRO_0000213868"
FT DOMAIN 95..272
FT /note="PXA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00147,
FT ECO:0000255|PROSITE-ProRule:PRU00553"
FT DOMAIN 533..663
FT /note="PX"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00147"
FT REGION 410..442
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 692..726
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 778..797
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 973..992
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 705..723
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 582
FT /ligand="a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-
FT inositol-3-phosphate)"
FT /ligand_id="ChEBI:CHEBI:58088"
FT /evidence="ECO:0000250|UniProtKB:Q6P4T1"
FT BINDING 629
FT /ligand="a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-
FT inositol-3-phosphate)"
FT /ligand_id="ChEBI:CHEBI:58088"
FT /evidence="ECO:0000250|UniProtKB:Q6P4T1"
FT VAR_SEQ 755..771
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_057153"
FT VAR_SEQ 815..820
FT /note="GTETEL -> AEHAMC (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_057154"
FT VAR_SEQ 821..992
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_057155"
FT VARIANT 361
FT /note="V -> L (in dbSNP:rs3751037)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9039502, ECO:0000269|Ref.1"
FT /id="VAR_060288"
FT VARIANT 396
FT /note="D -> E (in dbSNP:rs1050081)"
FT /id="VAR_060289"
FT VARIANT 407
FT /note="S -> G (in dbSNP:rs3190345)"
FT /id="VAR_057334"
FT VARIANT 618
FT /note="L -> F (in dbSNP:rs681982)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9039502, ECO:0000269|Ref.1"
FT /id="VAR_060290"
FT VARIANT 753
FT /note="N -> S (in dbSNP:rs4414223)"
FT /evidence="ECO:0000269|PubMed:15489334,
FT ECO:0000269|PubMed:9039502, ECO:0000269|Ref.1"
FT /id="VAR_060291"
FT VARIANT 878
FT /note="L -> R (in dbSNP:rs2298566)"
FT /evidence="ECO:0000269|PubMed:9039502, ECO:0000269|Ref.1"
FT /id="VAR_060292"
SQ SEQUENCE 992 AA; 108598 MW; 0540670530743C6B CRC64;
MKTETVPPFQ ETPAGSSCHL NNLLSSRKLM AVGVLLGWLL VIHLLVNVWL LCLLSALLVV
LGGWLGSSLA GVASGRLHLE RFIPLATCPP CPEAERQLER EINRTIQMII RDFVLSWYRS
VSQEPAFEEE MEAAMKGLVQ ELRRRMSVMD SHAVAQSVLT LCGCHLQSYI QAKEATAGKN
GPVEPSHLWE AYCRATAPHP AVHSPSAEVT YTRGVVNLLL QGLVPKPHLE TRTGRHVVVE
LITCNVILPL ISRLSDPDWI HLVLVGIFSK ARDPAPCPAS APEQPSVPTS LPLIAEVEQL
PEGRASPVAA PVFLSYSEPE GSAGPSPEVE EGHEAVEGDL GGMCEERKVG NNSSHFLQPN
VRGPLFLCED SELESPLSEL GKETIMLMTP GSFLSDRIQD ALCALESSQA LEPKDGEASE
GAEAEEGPGT ETETGLPVST LNSCPEIHID TADKEIEQGD VTASVTALLE GPEKTCPSRP
SCLEKDLTND VSSLDPTLPP VLLSSSPPGP LSSATFSFEP LSSPDGPVII QNLRITGTIT
AREHSGTGFH PYTLYTVKYE TALDGENSSG LQQLAYHTVN RRYREFLNLQ TRLEEKPDLR
KFIKNVKGPK KLFPDLPLGN MDSDRVEARK SLLESFLKQL CAIPEIANSE EVQEFLALNT
DARIAFVKKP FMVSRIDKMV VSAIVDTLKT AFPRSEPQSP TEELSEAETE SKPQTEGKKA
SKSRLRFSSS KISPALSVTE AQDKILYCLQ EGNVESETLS MSAMESFIEK QTKLLEMQPT
KAPEKDPEQP PKGRVDSCVS DAAVPAQDPS NSDPGTETEL ADTALDLLLL LLTEQWKWLC
TENMQKFLRL IFGTLVQRWL EVQVANLTSP QRWVQYLLLL QESIWPGGVL PKFPRPVRTQ
EQKLAAEKQA LQSLMGVLPD LVVEILGVNK CRLSWGLVLE SLQQPLINRH LIYCLGDIIL
EFLDLSASVE ESAATTSASD TPGNSKRMGV SS
