STON1_HUMAN
ID STON1_HUMAN Reviewed; 735 AA.
AC Q9Y6Q2; A0A0A6YYH4; A8MXJ1; B5MCF5; B7ZL16; Q96JE3; Q9BYX3;
DT 21-FEB-2001, integrated into UniProtKB/Swiss-Prot.
DT 15-AUG-2003, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Stonin-1;
DE AltName: Full=Stoned B-like factor;
GN Name=STON1; Synonyms=SALF, SBLF, STN1;
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).
RC TISSUE=Placenta;
RX PubMed=10364255; DOI=10.1074/jbc.274.25.18040;
RA Upadhyaya A.B., Lee S.H., DeJong J.;
RT "Identification of a general transcription factor TFIIAalpha/beta homolog
RT selectively expressed in testis.";
RL J. Biol. Chem. 274:18040-18048(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=11159353; DOI=10.1095/biolreprod64.2.507;
RA Han S., Zhou L., Upadhyaya A.B., Lee S.H., Parker K.L., DeJong J.;
RT "TFIIAalpha/beta-like factor is encoded by a germ cell-specific gene whose
RT expression is up-regulated with other general transcription factors during
RT spermatogenesis in the mouse.";
RL Biol. Reprod. 64:507-517(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Teratocarcinoma;
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT HIS-607.
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 [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND LACK OF INTERACTION WITH EPS15; EPS15R AND ITSN1.
RC TISSUE=Heart;
RX PubMed=11381094; DOI=10.1083/jcb.153.5.1111;
RA Martina J.A., Bonangelino C.J., Aguilar R.C., Bonifacino J.S.;
RT "Stonin 2: an adaptor-like protein that interacts with components of the
RT endocytic machinery.";
RL J. Cell Biol. 153:1111-1120(2001).
CC -!- FUNCTION: May be involved in the endocytic machinery. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11381094}. Membrane
CC {ECO:0000269|PubMed:11381094}. Note=Some fraction is membrane-
CC associated.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q9Y6Q2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y6Q2-2; Sequence=VSP_045845;
CC Name=3;
CC IsoId=Q9Y6Q2-3; Sequence=VSP_045846;
CC -!- TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:11381094}.
CC -!- MISCELLANEOUS: In contrast to other members of the family, it does not
CC contain NPF (Asn-Pro-Phe) sites and thereby does not interact with
CC EPS15, EPS15R and ITSN1.
CC -!- SIMILARITY: Belongs to the Stoned B family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAD39617.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. The in vivo relevance of this transcript of the STON1 and GTF2A1L (AC Q9UNN4) genes creating a chimeric protein of 1182 residues is uncertain.; Evidence={ECO:0000305};
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DR EMBL; AF026169; AAD39617.1; ALT_SEQ; mRNA.
DR EMBL; AY026319; AAK11719.1; -; mRNA.
DR EMBL; AF255310; AAK57559.1; -; mRNA.
DR EMBL; AK309740; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC073082; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC087816; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC091788; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; KF456667; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC143520; AAI43521.1; -; mRNA.
DR CCDS; CCDS1841.1; -. [Q9Y6Q2-1]
DR RefSeq; NP_001185522.1; NM_001198593.1. [Q9Y6Q2-2]
DR RefSeq; NP_001185523.1; NM_001198594.1. [Q9Y6Q2-3]
DR RefSeq; NP_001185524.1; NM_001198595.1. [Q9Y6Q2-1]
DR RefSeq; NP_006864.2; NM_006873.3. [Q9Y6Q2-1]
DR AlphaFoldDB; Q9Y6Q2; -.
DR SMR; Q9Y6Q2; -.
DR BioGRID; 116226; 16.
DR BioGRID; 130414; 2.
DR IntAct; Q9Y6Q2; 4.
DR MINT; Q9Y6Q2; -.
DR STRING; 9606.ENSP00000384615; -.
DR GlyGen; Q9Y6Q2; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9Y6Q2; -.
DR PhosphoSitePlus; Q9Y6Q2; -.
DR BioMuta; STON1; -.
DR DMDM; 33860221; -.
DR EPD; Q9Y6Q2; -.
DR jPOST; Q9Y6Q2; -.
DR MassIVE; Q9Y6Q2; -.
DR MaxQB; Q9Y6Q2; -.
DR PaxDb; Q9Y6Q2; -.
DR PeptideAtlas; Q9Y6Q2; -.
DR PRIDE; Q9Y6Q2; -.
DR ProteomicsDB; 86760; -. [Q9Y6Q2-1]
DR Antibodypedia; 35033; 96 antibodies from 23 providers.
DR DNASU; 11037; -.
DR Ensembl; ENST00000404752.6; ENSP00000385273.1; ENSG00000243244.7. [Q9Y6Q2-1]
DR Ensembl; ENST00000406226.1; ENSP00000384615.1; ENSG00000243244.7. [Q9Y6Q2-1]
DR Ensembl; ENST00000649748.1; ENSP00000497745.1; ENSG00000243244.7. [Q9Y6Q2-1]
DR GeneID; 11037; -.
DR GeneID; 286749; -.
DR KEGG; hsa:11037; -.
DR KEGG; hsa:286749; -.
DR MANE-Select; ENST00000404752.6; ENSP00000385273.1; NM_006873.4; NP_006864.2.
DR UCSC; uc002rwo.5; human. [Q9Y6Q2-1]
DR CTD; 11037; -.
DR CTD; 286749; -.
DR DisGeNET; 11037; -.
DR DisGeNET; 286749; -.
DR GeneCards; STON1; -.
DR HGNC; HGNC:17003; STON1.
DR HPA; ENSG00000243244; Low tissue specificity.
DR MIM; 605357; gene.
DR neXtProt; NX_Q9Y6Q2; -.
DR OpenTargets; ENSG00000068781; -.
DR OpenTargets; ENSG00000243244; -.
DR PharmGKB; PA143485623; -.
DR PharmGKB; PA162390383; -.
DR VEuPathDB; HostDB:ENSG00000243244; -.
DR eggNOG; KOG2677; Eukaryota.
DR GeneTree; ENSGT00940000158817; -.
DR HOGENOM; CLU_016541_0_0_1; -.
DR InParanoid; Q9Y6Q2; -.
DR OMA; RDGWSVM; -.
DR PhylomeDB; Q9Y6Q2; -.
DR TreeFam; TF318623; -.
DR PathwayCommons; Q9Y6Q2; -.
DR Reactome; R-HSA-8856825; Cargo recognition for clathrin-mediated endocytosis.
DR Reactome; R-HSA-8856828; Clathrin-mediated endocytosis.
DR SignaLink; Q9Y6Q2; -.
DR BioGRID-ORCS; 11037; 10 hits in 1028 CRISPR screens.
DR BioGRID-ORCS; 286749; 239 hits in 977 CRISPR screens.
DR Pharos; Q9Y6Q2; Tbio.
DR PRO; PR:Q9Y6Q2; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9Y6Q2; protein.
DR Bgee; ENSG00000243244; Expressed in decidua and 170 other tissues.
DR ExpressionAtlas; Q9Y6Q2; baseline and differential.
DR Genevisible; Q9Y6Q2; HS.
DR GO; GO:0031252; C:cell leading edge; IEA:Ensembl.
DR GO; GO:0042995; C:cell projection; IEA:Ensembl.
DR GO; GO:0005905; C:clathrin-coated pit; IEA:Ensembl.
DR GO; GO:0030136; C:clathrin-coated vesicle; IBA:GO_Central.
DR GO; GO:0031410; C:cytoplasmic vesicle; IBA:GO_Central.
DR GO; GO:0008021; C:synaptic vesicle; IBA:GO_Central.
DR GO; GO:0035615; F:clathrin adaptor activity; IBA:GO_Central.
DR GO; GO:0048041; P:focal adhesion assembly; IEA:Ensembl.
DR GO; GO:0120181; P:focal adhesion disassembly; IEA:Ensembl.
DR GO; GO:0048008; P:platelet-derived growth factor receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0030100; P:regulation of endocytosis; IDA:UniProtKB.
DR GO; GO:0097178; P:ruffle assembly; IEA:Ensembl.
DR GO; GO:0006929; P:substrate-dependent cell migration; IEA:Ensembl.
DR GO; GO:0048488; P:synaptic vesicle endocytosis; IBA:GO_Central.
DR GO; GO:0016192; P:vesicle-mediated transport; IBA:GO_Central.
DR InterPro; IPR036168; AP2_Mu_C_sf.
DR InterPro; IPR028565; MHD.
DR InterPro; IPR012320; SHD_dom.
DR InterPro; IPR031232; Ston1.
DR InterPro; IPR017110; Stonin.
DR PANTHER; PTHR10529:SF339; PTHR10529:SF339; 1.
DR Pfam; PF00928; Adap_comp_sub; 1.
DR PIRSF; PIRSF037099; Stonin; 1.
DR SUPFAM; SSF49447; SSF49447; 1.
DR PROSITE; PS51072; MHD; 1.
DR PROSITE; PS51070; SHD; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Endocytosis; Membrane; Reference proteome.
FT CHAIN 1..735
FT /note="Stonin-1"
FT /id="PRO_0000185736"
FT DOMAIN 275..408
FT /note="SHD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00403"
FT DOMAIN 412..715
FT /note="MHD"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00404"
FT REGION 1..35
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 15..31
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 712..735
FT /note="VEIEKKWIKIDGEDPDKIGDCITQ -> PKLYRSVIEDVIEGVRNLFAEEGI
FT EEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTASLVIPAG
FT RTLPSFTTAELGTSNSSANFTFPGYPIHVPAGVTLQTVSGHLYKVNVPIMVTETSGRAG
FT ILQHPIQQVFQQLGQPSVIQTSVPQLNPWSLQATTEKSQRIETVLQQPAILPSGPVDRK
FT HLENATSDILVSPGNEHKIVPEALLCHQESSHYISLPGVVFSPQVSQTNSNVESVLSGS
FT ASMAQNLHDESLSTSPHGALHQHVTDIQLHILKNRMYGCDSVKQPRNIEEPSNIPVSEK
FT DSNSQVDLSIRVTDDDIGEIIQVDGSGDTSSNEEIGSTRDADENEFLGNIDGGDLKVPE
FT EEADSISNEDSATNSSDNEDPQVNIVEEDPLNSGDDVSEQDVPDLFDTDNVIVCQYDKQ
FT GDTRVRHGQQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_045845"
FT VAR_SEQ 712..735
FT /note="VEIEKKWIKIDGEDPDKIGDCITQ -> PKLYRSVIEDVIEGVRNLFAEEGI
FT EEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQLPHSLHQTLQSSTGHLYKVNV
FT PIMVTETSGRAGILQHPIQQVFQQLGQPSVIQTSVPQLNPWSLQATTEKSQRIETVLQQ
FT PAILPSGPVDRKHLENATSDILVSPGNEHKIVPEALLCHQESSHYISLPGVVFSPQVSQ
FT TNSNVESVLSGSASMAQNLHDESLSTSPHGALHQHVTDIQLHILKNRMYGCDSVKQPRN
FT IEEPSNIPVSEKDSNSQVDLSIRVTDDDIGEIIQVDGSGDTSSNEEIGSTRDADENEFL
FT GNIDGGDLKVPEEEADSISNEDSATNSSDNEDPQVNIVEEDPLNSGDDVSEQDVPDLFD
FT TDNVIVCQYDKIHRSKNKWKFYLKDGVMCFGGRDYVFAKAIGDAEW (in isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045846"
FT VARIANT 8
FT /note="K -> N (in dbSNP:rs17039250)"
FT /id="VAR_052156"
FT VARIANT 127
FT /note="R -> T (in dbSNP:rs940389)"
FT /id="VAR_020183"
FT VARIANT 544
FT /note="Q -> H (in dbSNP:rs3828341)"
FT /id="VAR_020184"
FT VARIANT 607
FT /note="Q -> H (in dbSNP:rs3792234)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_020185"
FT CONFLICT 44
FT /note="L -> P (in Ref. 2; AAD39617/AAK11719)"
FT /evidence="ECO:0000305"
FT CONFLICT 167
FT /note="S -> I (in Ref. 5; AAI43521)"
FT /evidence="ECO:0000305"
FT CONFLICT 187
FT /note="W -> R (in Ref. 2; AAD39617/AAK11719)"
FT /evidence="ECO:0000305"
FT CONFLICT Q9Y6Q2-2:963
FT /note="N -> D (in Ref. 3; AK309740)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 735 AA; 83141 MW; 7DD70005CC88EF3D CRC64;
MCSTNPGKWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF PSGSSSTSST
PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH VLYPIPESSS DSPLAISGGE
SSLLPTRPTC LSHALLPSDH SCTHPTPKVG LPDEVNPQQA ESLGFQSDDL PQFQYFREDC
AFSSPFWKDE GSDSHFTLDP PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE
NQDSLRSLSM HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE HVSYTEKRKY
HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL PAVSKPKKNY EEQEISLEIV
DNFWGKVTKE GKFVESAVIT QIYCLCFVNG NLECFLTLND LELPKRDESY YEKDSEKKGI
DILDYHFHKC VNVQEFEQSR IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY
VELQAFVNMA SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC LSYKLELGSD
QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK HVQQRACYNI QVEIEKKWIK
IDGEDPDKIG DCITQ
