SNX31_HUMAN
ID SNX31_HUMAN Reviewed; 440 AA.
AC Q8N9S9; C9J6L9; Q8N0U9;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Sorting nexin-31;
GN Name=SNX31;
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 [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT HIS-73.
RC TISSUE=Trachea;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANT GLY-428.
RC TISSUE=Testis;
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 FUNCTION, INTERACTION WITH CCDC22; CCDC93; VPS26C AND VPS35L, AND
RP MUTAGENESIS OF LEU-440.
RX PubMed=28892079; DOI=10.1038/ncb3610;
RA McNally K.E., Faulkner R., Steinberg F., Gallon M., Ghai R., Pim D.,
RA Langton P., Pearson N., Danson C.M., Naegele H., Morris L.L., Singla A.,
RA Overlee B.L., Heesom K.J., Sessions R., Banks L., Collins B.M., Berger I.,
RA Billadeau D.D., Burstein E., Cullen P.J.;
RT "Retriever is a multiprotein complex for retromer-independent endosomal
RT cargo recycling.";
RL Nat. Cell Biol. 19:1214-1225(2017).
CC -!- FUNCTION: May be involved in protein trafficking.
CC {ECO:0000305|PubMed:28892079}.
CC -!- SUBUNIT: Interacts with CCDC22, CCDC93, VPS26C and VPS35L, associates
CC with the retriever and CCC complexes. {ECO:0000269|PubMed:28892079}.
CC -!- INTERACTION:
CC Q8N9S9; Q9BRK4: LZTS2; NbExp=3; IntAct=EBI-9380649, EBI-741037;
CC Q8N9S9-2; Q9HD26-2: GOPC; NbExp=3; IntAct=EBI-11745060, EBI-11102276;
CC Q8N9S9-2; Q9UHY1: NRBP1; NbExp=3; IntAct=EBI-11745060, EBI-749731;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N9S9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N9S9-2; Sequence=VSP_033261, VSP_033262;
CC -!- SIMILARITY: Belongs to the sorting nexin family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK093906; BAC04249.1; -; mRNA.
DR EMBL; AP000424; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP001205; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC031260; AAH31260.1; -; mRNA.
DR CCDS; CCDS6288.1; -. [Q8N9S9-1]
DR CCDS; CCDS87622.1; -. [Q8N9S9-2]
DR RefSeq; NP_689841.3; NM_152628.3. [Q8N9S9-1]
DR RefSeq; XP_005250872.1; XM_005250815.3.
DR AlphaFoldDB; Q8N9S9; -.
DR SMR; Q8N9S9; -.
DR BioGRID; 127977; 8.
DR IntAct; Q8N9S9; 6.
DR STRING; 9606.ENSP00000312368; -.
DR TCDB; 9.A.3.1.2; the sorting nexin27 (snx27)-retromer assembly apparatus (retromeraa) family.
DR iPTMnet; Q8N9S9; -.
DR PhosphoSitePlus; Q8N9S9; -.
DR BioMuta; SNX31; -.
DR DMDM; 269849658; -.
DR MassIVE; Q8N9S9; -.
DR PaxDb; Q8N9S9; -.
DR PeptideAtlas; Q8N9S9; -.
DR PRIDE; Q8N9S9; -.
DR ProteomicsDB; 72579; -. [Q8N9S9-1]
DR ProteomicsDB; 72580; -. [Q8N9S9-2]
DR Antibodypedia; 13167; 63 antibodies from 14 providers.
DR DNASU; 169166; -.
DR Ensembl; ENST00000311812.7; ENSP00000312368.2; ENSG00000174226.9. [Q8N9S9-1]
DR Ensembl; ENST00000428383.6; ENSP00000405024.2; ENSG00000174226.9. [Q8N9S9-2]
DR GeneID; 169166; -.
DR KEGG; hsa:169166; -.
DR MANE-Select; ENST00000311812.7; ENSP00000312368.2; NM_152628.4; NP_689841.3.
DR UCSC; uc003yjr.4; human. [Q8N9S9-1]
DR CTD; 169166; -.
DR DisGeNET; 169166; -.
DR GeneCards; SNX31; -.
DR HGNC; HGNC:28605; SNX31.
DR HPA; ENSG00000174226; Tissue enhanced (esophagus, urinary bladder).
DR MIM; 619839; gene.
DR neXtProt; NX_Q8N9S9; -.
DR OpenTargets; ENSG00000174226; -.
DR PharmGKB; PA162404313; -.
DR VEuPathDB; HostDB:ENSG00000174226; -.
DR eggNOG; KOG3784; Eukaryota.
DR GeneTree; ENSGT00950000183212; -.
DR HOGENOM; CLU_041342_0_0_1; -.
DR InParanoid; Q8N9S9; -.
DR OMA; LHDWNEQ; -.
DR OrthoDB; 577861at2759; -.
DR PhylomeDB; Q8N9S9; -.
DR TreeFam; TF318398; -.
DR PathwayCommons; Q8N9S9; -.
DR SignaLink; Q8N9S9; -.
DR BioGRID-ORCS; 169166; 11 hits in 1066 CRISPR screens.
DR ChiTaRS; SNX31; human.
DR GenomeRNAi; 169166; -.
DR Pharos; Q8N9S9; Tdark.
DR PRO; PR:Q8N9S9; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q8N9S9; protein.
DR Bgee; ENSG00000174226; Expressed in buccal mucosa cell and 115 other tissues.
DR ExpressionAtlas; Q8N9S9; baseline and differential.
DR Genevisible; Q8N9S9; HS.
DR GO; GO:0005769; C:early endosome; IBA:GO_Central.
DR GO; GO:0032991; C:protein-containing complex; IEA:Ensembl.
DR GO; GO:0035091; F:phosphatidylinositol binding; IBA:GO_Central.
DR GO; GO:0006886; P:intracellular protein transport; IBA:GO_Central.
DR Gene3D; 2.30.29.30; -; 1.
DR Gene3D; 3.30.1520.10; -; 1.
DR InterPro; IPR011993; PH-like_dom_sf.
DR InterPro; IPR001683; PX_dom.
DR InterPro; IPR036871; PX_dom_sf.
DR InterPro; IPR037831; SNX17/27/31.
DR InterPro; IPR040842; SNX17/31_FERM.
DR PANTHER; PTHR12431; PTHR12431; 1.
DR Pfam; PF00787; PX; 1.
DR Pfam; PF18116; SNX17_FERM_C; 1.
DR SMART; SM00312; PX; 1.
DR SUPFAM; SSF64268; SSF64268; 1.
DR PROSITE; PS50195; PX; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Protein transport; Reference proteome; Transport.
FT CHAIN 1..440
FT /note="Sorting nexin-31"
FT /id="PRO_0000331603"
FT DOMAIN 1..109
FT /note="PX"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00147"
FT VAR_SEQ 1..99
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033261"
FT VAR_SEQ 100..107
FT /note="EFLKLAQL -> MLGNTENW (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_033262"
FT VARIANT 73
FT /note="D -> H (in dbSNP:rs2187016)"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_042900"
FT VARIANT 309
FT /note="Q -> R (in dbSNP:rs2248609)"
FT /id="VAR_042901"
FT VARIANT 428
FT /note="D -> G (in dbSNP:rs2022923)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_042902"
FT MUTAGEN 440
FT /note="L->G: Strongly decreases interaction with CCDC22,
FT CCDC93, VPS26C and VPS35L."
FT /evidence="ECO:0000269|PubMed:28892079"
FT CONFLICT 174
FT /note="S -> P (in Ref. 1; BAC04249)"
FT /evidence="ECO:0000305"
FT CONFLICT 338
FT /note="T -> A (in Ref. 1; BAC04249)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 440 AA; 50802 MW; B4B5671DC5593D85 CRC64;
MKMHFCIPVS QQRSDALGGR YVLYSVHLDG FLFCRVRYSQ LHGWNEQLRR VFGNCLPPFP
PKYYLAMTTA MADERRDQLE QYLQNVTMDP NVLRSDVFVE FLKLAQLNTF DIATKKAYLD
IFLPNEQSIR IEIITSDTAE RVLEVVSHKI GLCRELLGYF GLFLIRFGKE GKLSVVKKLA
DFELPYVSLG SSEVENCKVG LRKWYMAPSL DSVLMDCRVA VDLLYMQAIQ DIEKGWAKPT
QAQRQKLEAF QKEDSQTKFL ELAREVRHYG YLQLDPCTCD YPESGSGAVL SVGNNEISCC
ITLPDSQTQD IVFQMSRVKC WQVTFLGTLL DTDGPQRTLN QNLELRFQYS EDSCWQWFVI
YTKQAFLLSS CLKKMISEKM VKLAAENTEM QIEVPEQSKS KKYHIQQSQQ KDYSSFLSRK
SKIKIAKDDC VFGNIKEEDL
