SQSTM1: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

SQSTM1

Aliases

A170, DMRV, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B

Entrez Gene ID

8878

Gene Name

Sequestosome 1

Chromosomal Location

5q35.3

HGNC ID

HGNC:11280

Summary

This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]

RefSeq DNA

NG_011342.1

RefSeq mRNA

NM_001142298.2, NM_003900.5, NM_001142299.2

e!Ensembl

Gene	ENSG00000161011, ENSG00000284099
Transcript	ENST00000514093, ENST00000422245, ENST00000389805, ENST00000508284, ENST00000453046, ENST00000504627, ENST00000510187, ENST00000360718, ENST00000626660, ENST00000640444, ENST00000643389
Protein	ENSP00000427308, ENSP00000394534, ENSP00000374455, ENSP00000424195, ENSP00000405061, ENSP00000425957, ENSP00000424477, ENSP00000353944, ENSP00000487071, ENSP00000491834, ENSP00000495843

Gene Ontology (GO)

Show/Hide all(49 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000422	Biological process	Autophagy of mitochondrion	NAS	20098416
GO:0000423	Biological process	Mitophagy	IBA	21873635
GO:0000423	Biological process	Mitophagy	IGI	20457763
GO:0006511	Biological process	Ubiquitin-dependent protein catabolic process	TAS	8702753
GO:0006914	Biological process	Autophagy	IMP	17580304
GO:0006914	Biological process	Autophagy	TAS	19816510
GO:0007005	Biological process	Mitochondrion organization	IBA	21873635
GO:0007032	Biological process	Endosome organization	IBA	21873635
GO:0007032	Biological process	Endosome organization	IDA	27368102
GO:0008104	Biological process	Protein localization	TAS	8650207
GO:0010821	Biological process	Regulation of mitochondrion organization	NAS	20890124
GO:0016197	Biological process	Endosomal transport	TAS	12857745
GO:0016236	Biological process	Macroautophagy	IMP	20168092
GO:0035556	Biological process	Intracellular signal transduction	TAS	8650207
GO:0035973	Biological process	Aggrephagy	IBA	21873635
GO:0035973	Biological process	Aggrephagy	IPI	28404643
GO:0043122	Biological process	Regulation of I-kappaB kinase/NF-kappaB signaling	IMP	12857745
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	TAS	12857745
GO:0046578	Biological process	Regulation of Ras protein signal transduction	NAS	8618896
GO:0061635	Biological process	Regulation of protein complex stability	IDA	25127057
GO:0061912	Biological process	Selective autophagy	IMP	22622177
GO:0098780	Biological process	Response to mitochondrial depolarisation	IGI	20457763
GO:1905719	Biological process	Protein localization to perinuclear region of cytoplasm	IDA	27368102
GO:0000932	Cellular component	P-body	IDA	20357094
GO:0005737	Cellular component	Cytoplasm	IDA	20168092
GO:0005776	Cellular component	Autophagosome	IBA	21873635
GO:0005776	Cellular component	Autophagosome	IDA	17580304, 19640926, 20168092, 22948227, 24954904
GO:0005829	Cellular component	Cytosol	TAS	8650207
GO:0016234	Cellular component	Inclusion body	IDA	20168092
GO:0016235	Cellular component	Aggresome	IBA	21873635
GO:0016605	Cellular component	PML body	IDA	20168092
GO:0044753	Cellular component	Amphisome	IBA	21873635
GO:0044753	Cellular component	Amphisome	IDA	19640926
GO:0044754	Cellular component	Autolysosome	IDA	19640926
GO:0070062	Cellular component	Extracellular exosome	HDA	19056867
GO:0004674	Molecular function	Protein serine/threonine kinase activity	NAS	8618896
GO:0005080	Molecular function	Protein kinase C binding	IBA	21873635
GO:0005080	Molecular function	Protein kinase C binding	IPI	14676191
GO:0005515	Molecular function	Protein binding	IPI	8618896, 8702753, 14676191, 16169070, 16189514, 16874300, 17389358, 17580304, 18083104, 19229298, 19250911, 19427866, 19615732, 20010802, 20168092, 20173742, 20357094, 20417604, 20452972, 20551902, 20562859, 20808283, 21149568, 21900206, 21988832, 22178386, 22190034, 22421968, 23274
GO:0019899	Molecular function	Enzyme binding	IPI	27368102
GO:0019901	Molecular function	Protein kinase binding	IDA	8650207
GO:0030971	Molecular function	Receptor tyrosine kinase binding	TAS	8650207
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IDA	27368102
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IPI	25127057, 27368102
GO:0042169	Molecular function	SH2 domain binding	IDA	8650207
GO:0042802	Molecular function	Identical protein binding	IPI	16169070, 20562859, 21900206, 25416956, 25686248
GO:0043130	Molecular function	Ubiquitin binding	IDA	12857745
GO:0070530	Molecular function	K63-linked polyubiquitin modification-dependent protein binding	IBA	21873635
GO:0070530	Molecular function	K63-linked polyubiquitin modification-dependent protein binding	IDA	28404643

Protein Information

Protein Name

Sequestosome-1, EBI3-associated protein of 60 kDa, EBI3-associated protein p60, EBIAP, autophagy receptor p62, oxidative stress induced like, phosphotyrosine independent ligand for the Lck SH2 domain p62, phosphotyrosine-independent ligand for the Lck SH2 domain of 62 kDa, ubiquitin-binding protein p62

Function

Refseq Proteins

NP_001135770.1, NP_003891.1, NP_001135771.1

UniProt

Q13501

PDB

1Q02, 2JY7, 2JY8, 2K0B, 2KNV, 4MJS, 4UF8, 4UF9, 5YP7, 5YP8, 5YPA, 5YPB, 5YPC, 5YPE, 5YPF, 5YPG, 5YPH, 6MJ7

Pfam

Pfam Accession	Pfam ID
PF00564	PB1
PF16577	UBA_5
PF00569	ZZ

SQSTM1

Gene expression microarray profiles of cumulus cells in lean and overweight-obese polycystic ovary syndrome patients.