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Protein

Stonin-1

Gene

STON1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

May be involved in the endocytic machinery.By similarity

GO - Biological processi

  • endocytosis Source: UniProtKB-KW
  • regulation of endocytosis Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Endocytosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068781-MONOMER.
ReactomeiR-HSA-8856825. Cargo recognition for clathrin-mediated endocytosis.
R-HSA-8856828. Clathrin-mediated endocytosis.
SignaLinkiQ9Y6Q2.

Names & Taxonomyi

Protein namesi
Recommended name:
Stonin-1
Alternative name(s):
Stoned B-like factor
Gene namesi
Name:STON1
Synonyms:SALF, SBLF, STN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:17003. STON1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi11037.
286749.
OpenTargetsiENSG00000068781.
ENSG00000243244.
PharmGKBiPA143485623.
PA162390383.

Polymorphism and mutation databases

BioMutaiSTON1.
DMDMi33860221.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001857361 – 735Stonin-1Add BLAST735

Proteomic databases

PaxDbiQ9Y6Q2.
PeptideAtlasiQ9Y6Q2.
PRIDEiQ9Y6Q2.

PTM databases

iPTMnetiQ9Y6Q2.
PhosphoSitePlusiQ9Y6Q2.

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000243244.
ExpressionAtlasiQ9Y6Q2. baseline and differential.
GenevisibleiQ9Y6Q2. HS.

Organism-specific databases

HPAiHPA005715.

Interactioni

Protein-protein interaction databases

BioGridi116226. 1 interactor.
IntActiQ9Y6Q2. 2 interactors.
STRINGi9606.ENSP00000310969.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6Q2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini275 – 408SHDPROSITE-ProRule annotationAdd BLAST134
Domaini412 – 715MHDPROSITE-ProRule annotationAdd BLAST304

Sequence similaritiesi

Belongs to the Stoned B family.Curated
Contains 1 MHD (mu homology) domain.PROSITE-ProRule annotation
Contains 1 SHD (stonin homology) domain.Curated

Phylogenomic databases

eggNOGiKOG2677. Eukaryota.
ENOG410XQHF. LUCA.
GeneTreeiENSGT00830000128302.
HOGENOMiHOG000015236.
HOVERGENiHBG037269.
InParanoidiQ9Y6Q2.
KOiK20067.
OrthoDBiEOG091G0GC2.
PhylomeDBiQ9Y6Q2.
TreeFamiTF318623.

Family and domain databases

InterProiIPR028565. MHD.
IPR012320. SHD.
IPR031232. Ston1.
[Graphical view]
PANTHERiPTHR10529:SF238. PTHR10529:SF238. 2 hits.
PfamiPF00928. Adap_comp_sub. 1 hit.
[Graphical view]
SUPFAMiSSF49447. SSF49447. 2 hits.
PROSITEiPS51072. MHD. 1 hit.
PS51070. SHD. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y6Q2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MCSTNPGKWV TFDDDPAVQS SQKSKNFPLE NQGVCRPNGL KLNLPGLREF
60 70 80 90 100
PSGSSSTSST PLSSPIVDFY FSPGPPSNSP LSTPTKDFPG FPGIPKAGTH
110 120 130 140 150
VLYPIPESSS DSPLAISGGE SSLLPTRPTC LSHALLPSDH SCTHPTPKVG
160 170 180 190 200
LPDEVNPQQA ESLGFQSDDL PQFQYFREDC AFSSPFWKDE GSDSHFTLDP
210 220 230 240 250
PGSKKMFSSR NKEMPIDQKS LNKCSLNYIC EKLEHLQSAE NQDSLRSLSM
260 270 280 290 300
HCLCAEENAS SFVPHTLFRS QPKSGWSFML RIPEKKNMMS SRQWGPIFLK
310 320 330 340 350
VLPGGILQMY YEQGLEKPFK EIQLDPYCRL SEPKVENFSV AGKIHTVKIE
360 370 380 390 400
HVSYTEKRKY HSKTEVVHEP DIEQMLKLGS TSYHDFLDFL TTVEEELMKL
410 420 430 440 450
PAVSKPKKNY EEQEISLEIV DNFWGKVTKE GKFVESAVIT QIYCLCFVNG
460 470 480 490 500
NLECFLTLND LELPKRDESY YEKDSEKKGI DILDYHFHKC VNVQEFEQSR
510 520 530 540 550
IIKFVPLDAC RFELMRFKTL YNGDNLPFSL KSVVVVQGAY VELQAFVNMA
560 570 580 590 600
SLAQRSSYAG SLRSCDNIRI HFPVPSQWIK ALWTMNLQRQ KSLKAKMNRR
610 620 630 640 650
ACLGSLQELE SEPVIQVTVG SAKYESAYQA VVWKIDRLPD KNSSLDHPHC
660 670 680 690 700
LSYKLELGSD QEIPSDWYPF ATVQFSVPDT CASRTEVRSL GVESDVQPQK
710 720 730
HVQQRACYNI QVEIEKKWIK IDGEDPDKIG DCITQ
Length:735
Mass (Da):83,141
Last modified:August 15, 2003 - v2
Checksum:i7DD70005CC88EF3D
GO
Isoform 2 (identifier: Q9Y6Q2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     712-735: VEIEKKWIKIDGEDPDKIGDCITQ → PKLYRSVIED...GDTRVRHGQQ

Note: No experimental confirmation available.Curated
Show »
Length:1,158
Mass (Da):129,227
Checksum:i4824BDFD694CF57C
GO
Isoform 3 (identifier: Q9Y6Q2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     712-735: VEIEKKWIKIDGEDPDKIGDCITQ → PKLYRSVIED...FAKAIGDAEW

Note: No experimental confirmation available.
Show »
Length:1,135
Mass (Da):127,325
Checksum:iC7898A0618F044C9
GO

Sequence cautioni

The sequence AAD39617 differs from that shown. 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.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44L → P in AAD39617 (PubMed:11159353).Curated1
Sequence conflicti44L → P in AAK11719 (PubMed:11159353).Curated1
Sequence conflicti167S → I in AAI43521 (PubMed:15489334).Curated1
Sequence conflicti187W → R in AAD39617 (PubMed:11159353).Curated1
Sequence conflicti187W → R in AAK11719 (PubMed:11159353).Curated1
Isoform 2 (identifier: Q9Y6Q2-2)
Sequence conflicti963N → D in AK309740 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0521568K → N.Corresponds to variant rs17039250dbSNPEnsembl.1
Natural variantiVAR_020183127R → T.Corresponds to variant rs940389dbSNPEnsembl.1
Natural variantiVAR_020184544Q → H.Corresponds to variant rs3828341dbSNPEnsembl.1
Natural variantiVAR_020185607Q → H.1 PublicationCorresponds to variant rs3792234dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_045845712 – 735VEIEK…DCITQ → PKLYRSVIEDVIEGVRNLFA EEGIEEQVLKDLKQLWETKV LQSKATEDFFRNSIQSPLFT LQLPHSLHQTLQSSTASLVI PAGRTLPSFTTAELGTSNSS ANFTFPGYPIHVPAGVTLQT VSGHLYKVNVPIMVTETSGR AGILQHPIQQVFQQLGQPSV IQTSVPQLNPWSLQATTEKS QRIETVLQQPAILPSGPVDR KHLENATSDILVSPGNEHKI VPEALLCHQESSHYISLPGV VFSPQVSQTNSNVESVLSGS ASMAQNLHDESLSTSPHGAL HQHVTDIQLHILKNRMYGCD SVKQPRNIEEPSNIPVSEKD SNSQVDLSIRVTDDDIGEII QVDGSGDTSSNEEIGSTRDA DENEFLGNIDGGDLKVPEEE ADSISNEDSATNSSDNEDPQ VNIVEEDPLNSGDDVSEQDV PDLFDTDNVIVCQYDKQGDT RVRHGQQ in isoform 2. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_045846712 – 735VEIEK…DCITQ → PKLYRSVIEDVIEGVRNLFA EEGIEEQVLKDLKQLWETKV LQSKATEDFFRNSIQSPLFT LQLPHSLHQTLQSSTGHLYK VNVPIMVTETSGRAGILQHP IQQVFQQLGQPSVIQTSVPQ LNPWSLQATTEKSQRIETVL QQPAILPSGPVDRKHLENAT SDILVSPGNEHKIVPEALLC HQESSHYISLPGVVFSPQVS QTNSNVESVLSGSASMAQNL HDESLSTSPHGALHQHVTDI QLHILKNRMYGCDSVKQPRN IEEPSNIPVSEKDSNSQVDL SIRVTDDDIGEIIQVDGSGD TSSNEEIGSTRDADENEFLG NIDGGDLKVPEEEADSISNE DSATNSSDNEDPQVNIVEED PLNSGDDVSEQDVPDLFDTD NVIVCQYDKIHRSKNKWKFY LKDGVMCFGGRDYVFAKAIG DAEW in isoform 3. 1 PublicationAdd BLAST24

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026169 mRNA. Translation: AAD39617.1. Sequence problems.
AY026319 mRNA. Translation: AAK11719.1.
AF255310 mRNA. Translation: AAK57559.1.
AK309740 mRNA. No translation available.
AC073082 Genomic DNA. No translation available.
AC087816 Genomic DNA. No translation available.
AC091788 Genomic DNA. No translation available.
KF456667 Genomic DNA. No translation available.
BC143520 mRNA. Translation: AAI43521.1.
CCDSiCCDS1841.1. [Q9Y6Q2-1]
RefSeqiNP_001185522.1. NM_001198593.1. [Q9Y6Q2-2]
NP_001185523.1. NM_001198594.1. [Q9Y6Q2-3]
NP_001185524.1. NM_001198595.1. [Q9Y6Q2-1]
NP_006864.2. NM_006873.3. [Q9Y6Q2-1]
UniGeneiHs.44385.
Hs.732016.
Hs.736128.

Genome annotation databases

EnsembliENST00000404752; ENSP00000385273; ENSG00000243244. [Q9Y6Q2-1]
ENST00000406226; ENSP00000384615; ENSG00000243244. [Q9Y6Q2-1]
GeneIDi11037.
286749.
KEGGihsa:11037.
hsa:286749.
UCSCiuc002rwo.5. human. [Q9Y6Q2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF026169 mRNA. Translation: AAD39617.1. Sequence problems.
AY026319 mRNA. Translation: AAK11719.1.
AF255310 mRNA. Translation: AAK57559.1.
AK309740 mRNA. No translation available.
AC073082 Genomic DNA. No translation available.
AC087816 Genomic DNA. No translation available.
AC091788 Genomic DNA. No translation available.
KF456667 Genomic DNA. No translation available.
BC143520 mRNA. Translation: AAI43521.1.
CCDSiCCDS1841.1. [Q9Y6Q2-1]
RefSeqiNP_001185522.1. NM_001198593.1. [Q9Y6Q2-2]
NP_001185523.1. NM_001198594.1. [Q9Y6Q2-3]
NP_001185524.1. NM_001198595.1. [Q9Y6Q2-1]
NP_006864.2. NM_006873.3. [Q9Y6Q2-1]
UniGeneiHs.44385.
Hs.732016.
Hs.736128.

3D structure databases

ProteinModelPortaliQ9Y6Q2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116226. 1 interactor.
IntActiQ9Y6Q2. 2 interactors.
STRINGi9606.ENSP00000310969.

PTM databases

iPTMnetiQ9Y6Q2.
PhosphoSitePlusiQ9Y6Q2.

Polymorphism and mutation databases

BioMutaiSTON1.
DMDMi33860221.

Proteomic databases

PaxDbiQ9Y6Q2.
PeptideAtlasiQ9Y6Q2.
PRIDEiQ9Y6Q2.

Protocols and materials databases

DNASUi11037.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000404752; ENSP00000385273; ENSG00000243244. [Q9Y6Q2-1]
ENST00000406226; ENSP00000384615; ENSG00000243244. [Q9Y6Q2-1]
GeneIDi11037.
286749.
KEGGihsa:11037.
hsa:286749.
UCSCiuc002rwo.5. human. [Q9Y6Q2-1]

Organism-specific databases

CTDi11037.
286749.
DisGeNETi11037.
286749.
GeneCardsiSTON1.
HGNCiHGNC:17003. STON1.
HPAiHPA005715.
MIMi605357. gene.
neXtProtiNX_Q9Y6Q2.
OpenTargetsiENSG00000068781.
ENSG00000243244.
PharmGKBiPA143485623.
PA162390383.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2677. Eukaryota.
ENOG410XQHF. LUCA.
GeneTreeiENSGT00830000128302.
HOGENOMiHOG000015236.
HOVERGENiHBG037269.
InParanoidiQ9Y6Q2.
KOiK20067.
OrthoDBiEOG091G0GC2.
PhylomeDBiQ9Y6Q2.
TreeFamiTF318623.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000068781-MONOMER.
ReactomeiR-HSA-8856825. Cargo recognition for clathrin-mediated endocytosis.
R-HSA-8856828. Clathrin-mediated endocytosis.
SignaLinkiQ9Y6Q2.

Miscellaneous databases

GenomeRNAii286749.
PROiQ9Y6Q2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000243244.
ExpressionAtlasiQ9Y6Q2. baseline and differential.
GenevisibleiQ9Y6Q2. HS.

Family and domain databases

InterProiIPR028565. MHD.
IPR012320. SHD.
IPR031232. Ston1.
[Graphical view]
PANTHERiPTHR10529:SF238. PTHR10529:SF238. 2 hits.
PfamiPF00928. Adap_comp_sub. 1 hit.
[Graphical view]
SUPFAMiSSF49447. SSF49447. 2 hits.
PROSITEiPS51072. MHD. 1 hit.
PS51070. SHD. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSTON1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6Q2
Secondary accession number(s): A0A0A6YYH4
, A8MXJ1, B5MCF5, B7ZL16, Q96JE3, Q9BYX3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: August 15, 2003
Last modified: November 2, 2016
This is version 131 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

In contrast to other members of the family, it does not contain NPF (Asn-Pro-Phe) sites and thereby does not interact with EPS15, EPS15R and ITSN1.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.