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    SQSTM1 sequestosome 1 [ Homo sapiens (human) ]

    Gene ID: 8878, updated on 21-Oct-2018

    Summary

    Official Symbol
    SQSTM1provided by HGNC
    Official Full Name
    sequestosome 1provided by HGNC
    Primary source
    HGNC:HGNC:11280
    See related
    Ensembl:ENSG00000161011 MIM:601530; Vega:OTTHUMG00000150643
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    p60; p62; A170; DMRV; OSIL; PDB3; ZIP3; p62B; NADGP; FTDALS3
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 57.3), gall bladder (RPKM 54.3) and 25 other tissues See more
    Orthologs

    Genomic context

    See SQSTM1 in Genome Data Viewer
    Location:
    5q35.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (179806388..179838078)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (179233388..179265078)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene leukotriene C4 synthase Neighboring gene microRNA 1229 Neighboring gene alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B Neighboring gene MRN complex interacting protein Neighboring gene RNA, 7SK small nuclear pseudogene 150 Neighboring gene uncharacterized LOC100996419

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Distal myopathy with rimmed vacuoles
    MedGen: CN239822 OMIM: 617158 GeneReviews: Not available
    not available
    Frontotemporal dementia and/or amyotrophic lateral sclerosis 3
    MedGen: C4225326 OMIM: 616437 GeneReviews: Not available
    Compare labs
    Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
    MedGen: C4310693 OMIM: 617145 GeneReviews: Not available
    Compare labs
    Paget disease of bone 2, early-onset
    MedGen: C4085251 OMIM: 602080 GeneReviews: Not available
    Compare labs
    Paget disease of bone, familial
    MedGen: C4085252 OMIM: 167250 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
    NHGRI GWA Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Treatment of macrophages (24-72 hours) with purified HIV-1 decreases SQSTM1 in a dose-dependent manner in the absence of cytotoxic effects (indicates induction and flux of autophagy)with observed increase is lost at day 7 post-infection onward PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 Env gp120 treatment of SH-SY5Y cells decreases SQSTM1 (p62) which indicates the progression of the autophagic process PubMed
    Nef nef HIV-1 Nef upregulates the expression of p62 protein in human mesenchymal stem cells PubMed
    Tat tat HIV-1 Tat downregulates sequestosome 1 (SQSTM1, p62) levels in a dose-dependent manner in neuronal cells PubMed
    tat The interaction of SQSTM1/p62 with HIV-1 Tat is required for Tat degradation by the autophagy pathway in an ubiquitin-independent manner PubMed
    Vif vif HIV-1 Vif is identified to have a physical interaction with sequestosome 1 (SQSTM1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed
    capsid gag HIV-1 CA colocalizes with MAP1LC3B2 and MAP1LC3B2/SQSTM1 as demonstrated via fluorescence microscopy PubMed
    matrix gag HIV-1 p55/p17 (Gag-precursor) colocalizes with MAP1LC3B2 and MAP1LC3B2/SQSTM1 as demonstrated via fluorescence microscopy PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    • Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystem (from WikiPathways)
      Apoptosis-related network due to altered Notch3 in ovarian cancer, organism-specific biosystemResults of pathway analysis of apoptosis-related genes in OVCAR3 cells treated with Notch3 siRNA or control siRNA.
    • Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystem (from WikiPathways)
      Brain-Derived Neurotrophic Factor (BDNF) signaling pathway, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is a neurotrophin essential for growth, differentiation, plasticity, and survival of neurons. BDNF is also required for processes such as energy metabolism, b...
    • Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystem (from REACTOME)
      Cell death signalling via NRAGE, NRIF and NADE, organism-specific biosystemp75NTR is a key regulator of neuronal apoptosis, both during development and after injury. Apoptosis is triggered by binding of either mature neurotrophin or proneurotrophin (proNGF, proBDNF). ProNG...
    • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
      Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
    • Fluid shear stress and atherosclerosis, organism-specific biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, organism-specific biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • Fluid shear stress and atherosclerosis, conserved biosystem (from KEGG)
      Fluid shear stress and atherosclerosis, conserved biosystemShear stress represents the frictional force that the flow of blood exerts at the endothelial surface of the vessel wall and plays a central role in vascular biology and contributes to the progress o...
    • IL-1 signaling pathway, organism-specific biosystem (from WikiPathways)
      IL-1 signaling pathway, organism-specific biosystemThe IL-1 family of cytokines currently consists of 11 members which are encoded by distinct genes and includes IL-1?, IL-1?, and the IL-1 Receptor antagonist (IL-1RA). The major role of IL-1 type cyt...
    • IL1-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL1-mediated signaling events, organism-specific biosystem
      IL1-mediated signaling events
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Interleukin-1 Induced Activation of NF-kappa-B, organism-specific biosystem (from WikiPathways)
      Interleukin-1 Induced Activation of NF-kappa-B, organism-specific biosystemInterleukin-1 Induced activation of NF-kB through the phosphorylated TRAF6/Ajuba/PKCz/SQST1 complex. The pathway is defined by multiple binding steps to the TRAF6/Ajuba/PKCz/SQST1 complex. The small ...
    • Interleukin-1 signaling, organism-specific biosystem (from REACTOME)
      Interleukin-1 signaling, organism-specific biosystemInterleukin 1 (IL1) signals via Interleukin 1 receptor 1 (IL1R1), the only signaling-capable IL1 receptor. This is a single chain type 1 transmembrane protein comprising an extracellular ligand bindi...
    • Mitophagy, organism-specific biosystem (from REACTOME)
      Mitophagy, organism-specific biosystemMitophagy is a specific form of autophagy where mitochondria are specifically targeted for degradation by autophagolysosomes.. In mammals there are a number of known mechanisms of mitophagy. One insu...
    • Mitophagy - animal, organism-specific biosystem (from KEGG)
      Mitophagy - animal, organism-specific biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
    • Mitophagy - animal, conserved biosystem (from KEGG)
      Mitophagy - animal, conserved biosystemMitochondria act as the energy powerhouse of the cell, and are essential for eukaryotic cells to grow and function normally. However, deleterious byproducts of oxidative phosphorylation process calle...
    • NF-kB is activated and signals survival, organism-specific biosystem (from REACTOME)
      NF-kB is activated and signals survival, organism-specific biosystemUpon activation in response to NGF, NF-kB moves to the nucleus, where it turns on genes that promote survival, and triggers the expression of HES1/5 to modulate dendritic growth.
    • NRF2 pathway, organism-specific biosystem (from WikiPathways)
      NRF2 pathway, organism-specific biosystemNRF2 is part of a group of transcription factors called nuclear receptors. It is activated under oxidative stress conditions and subsequently activates several antioxidative genes and proteins.
    • NRIF signals cell death from the nucleus, organism-specific biosystem (from REACTOME)
      NRIF signals cell death from the nucleus, organism-specific biosystemNRIF (nuclear receptor-interacting factor) is a DNA binding protein that is essential for p75-mediated apoptosis in retina and sympathetic neurons. Neurotrophin or proneurotrophin binding to p75TR in...
    • Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem (from Pathway Interaction Database)
      Neurotrophic factor-mediated Trk receptor signaling, organism-specific biosystem
      Neurotrophic factor-mediated Trk receptor signaling
    • Osteoclast differentiation, organism-specific biosystem (from KEGG)
      Osteoclast differentiation, organism-specific biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Osteoclast differentiation, conserved biosystem (from KEGG)
      Osteoclast differentiation, conserved biosystemThe osteoclasts, multinucleared cells originating from the hematopoietic monocyte-macrophage lineage, are responsible for bone resorption. Osteoclastogenesis is mainly regulated by signaling pathways...
    • Pink/Parkin Mediated Mitophagy, organism-specific biosystem (from REACTOME)
      Pink/Parkin Mediated Mitophagy, organism-specific biosystemThis is the process of selective removal of damaged mitochondria by autophagosomes and subsequent catabolism by lysosomes. In healthy mitochondria, PINK1 is imported to the inner mitochondrial membra...
    • RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway, organism-specific biosystem (from WikiPathways)
      RANKL/RANK (Receptor activator of NFKB (ligand)) Signaling Pathway, organism-specific biosystemRANKL (Receptor activator of nuclear factor-kappa B ligand), RANK (Receptor activator of nuclear factor-kappa B) and the natural decoy receptor of RANKL, OPG (Osteoprotegerin) are three important mol...
    • Regulation of toll-like receptor signaling pathway, organism-specific biosystem (from WikiPathways)
      Regulation of toll-like receptor signaling pathway, organism-specific biosystem
      Regulation of toll-like receptor signaling pathway
    • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
      Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Interleukins, organism-specific biosystem (from REACTOME)
      Signaling by Interleukins, organism-specific biosystemInterleukins are low molecular weight proteins that bind to cell surface receptors and act in an autocrine and/or paracrine fashion. They were first identified as factors produced by leukocytes but a...
    • Signalling by NGF, organism-specific biosystem (from REACTOME)
      Signalling by NGF, organism-specific biosystemNeurotrophins (NGF, BDNF, NT-3, NT-4/5) play pivotal roles in survival, differentiation, and plasticity of neurons in the peripheral and central nervous system. They are produced, and secreted in mi...
    • TNF receptor signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
      TNF receptor signaling pathway, organism-specific biosystem
      TNF receptor signaling pathway
    • p75 NTR receptor-mediated signalling, organism-specific biosystem (from REACTOME)
      p75 NTR receptor-mediated signalling, organism-specific biosystemBesides signalling through the tyrosine kinase receptors TRK A, B, and C, the mature neurotrophins NGF, BDNF, and NT3/4 signal through their common receptor p75NTR. NGF binding to p75NTR activates a ...
    • p75(NTR)-mediated signaling, organism-specific biosystem (from Pathway Interaction Database)
      p75(NTR)-mediated signaling, organism-specific biosystem
      p75(NTR)-mediated signaling
    • p75NTR recruits signalling complexes, organism-specific biosystem (from REACTOME)
      p75NTR recruits signalling complexes, organism-specific biosystemNF-kB activation involves recruitment at the cell membrane of several proteins such as RIP2, MYD88, IRAK1, TRAF6, p62 and atypical PKC by the NGF:p75NTR complex.
    • p75NTR signals via NF-kB, organism-specific biosystem (from REACTOME)
      p75NTR signals via NF-kB, organism-specific biosystemThe NF-kB pathway is an important pro-survival signalling pathway activated by mature NGF, but not BDNF or NT-3, through p75NTR. It is unclear whether TRKA activity also affects NF-kB activation.

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    K63-linked polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    K63-linked polyubiquitin modification-dependent protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SH2 domain binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ionotropic glutamate receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein kinase C binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein kinase C binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein serine/threonine kinase activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    receptor tyrosine kinase binding TAS
    Traceable Author Statement
    more info
    PubMed 
    ubiquitin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin binding TAS
    Traceable Author Statement
    more info
     
    ubiquitin protein ligase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    aggrephagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    aggrephagy IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    autophagy TAS
    Traceable Author Statement
    more info
    PubMed 
    autophagy of mitochondrion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    endosomal transport TAS
    Traceable Author Statement
    more info
    PubMed 
    endosome organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endosome organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    immune system process IEA
    Inferred from Electronic Annotation
    more info
     
    interleukin-1-mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    intracellular signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    macroautophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    macroautophagy ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    macroautophagy TAS
    Traceable Author Statement
    more info
     
    mitochondrion organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitophagy IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    negative regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    negative regulation of growth of symbiont in host IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of apoptotic process TAS
    Traceable Author Statement
    more info
     
    positive regulation of long-term synaptic potentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein localization to plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of transcription by RNA polymerase II TAS
    Traceable Author Statement
    more info
    PubMed 
    protein heterooligomerization IEA
    Inferred from Electronic Annotation
    more info
     
    protein localization TAS
    Traceable Author Statement
    more info
    PubMed 
    protein localization to perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of I-kappaB kinase/NF-kappaB signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of Ras protein signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of mitochondrion organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    regulation of protein complex stability IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to ischemia IEA
    Inferred from Electronic Annotation
    more info
     
    response to mitochondrial depolarisation IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    selective autophagy IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ubiquitin-dependent protein catabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Lewy body IEA
    Inferred from Electronic Annotation
    more info
     
    P-body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    PML body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    aggresome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    amphisome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    amphisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    autolysosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    autophagosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    autophagosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
    PubMed 
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome HDA PubMed 
    inclusion body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    late endosome IEA
    Inferred from Electronic Annotation
    more info
     
    mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    phagophore assembly site IEA
    Inferred from Electronic Annotation
    more info
     
    sarcomere IEA
    Inferred from Electronic Annotation
    more info
     
    sperm midpiece IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    sequestosome-1
    Names
    EBI3-associated protein of 60 kDa
    EBI3-associated protein p60
    EBIAP
    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

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011342.1 RefSeqGene

      Range
      5001..36691
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001142298.1NP_001135770.1  sequestosome-1 isoform 2

      See identical proteins and their annotated locations for NP_001135770.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from an in-frame downstream start codon compared to variant 1. This results in an isoform (2) with a shorter N-terminus compared to isoform 1. Variants 2 and 3 encode the same isoform.
      Source sequence(s)
      BC000951, BC017222, BI549805, BU625974
      Consensus CDS
      CCDS47355.1
      UniProtKB/Swiss-Prot
      Q13501
      Conserved Domains (3) summary
      cd02340
      Location:4284
      ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
      cl02720
      Location:118
      PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...
      pfam16577
      Location:295356
      UBA_5; UBA domain
    2. NM_001142299.1NP_001135771.1  sequestosome-1 isoform 2

      See identical proteins and their annotated locations for NP_001135771.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation from an in-frame downstream start codon compared to variant 1. This results in an isoform (2) with a shorter N-terminus compared to isoform 1. Variants 2 and 3 differ in the 5' UTR, but encode the same isoform.
      Source sequence(s)
      BC000951, BC017222, BU625974, DA541885
      Consensus CDS
      CCDS47355.1
      UniProtKB/Swiss-Prot
      Q13501
      Conserved Domains (3) summary
      cd02340
      Location:4284
      ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
      cl02720
      Location:118
      PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...
      pfam16577
      Location:295356
      UBA_5; UBA domain
    3. NM_003900.4NP_003891.1  sequestosome-1 isoform 1

      See identical proteins and their annotated locations for NP_003891.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript, and encodes the longer isoform (1).
      Source sequence(s)
      AI333228, BC000951, BC017222, DC398116
      Consensus CDS
      CCDS34317.1
      UniProtKB/Swiss-Prot
      Q13501
      Related
      ENSP00000374455.4, OTTHUMP00000198118, ENST00000389805.8, OTTHUMT00000319344
      Conserved Domains (3) summary
      cd06402
      Location:4102
      PB1_p62; The PB1 domain is an essential part of p62 scaffold protein (alias sequestosome 1,SQSTM) involved in cell signaling, receptor internalization, and protein turnover. The PB1 domain is a modular domain mediating specific protein-protein interaction which ...
      cd02340
      Location:126168
      ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
      pfam16577
      Location:379439
      UBA_5; UBA domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      179806388..179838078
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017010010.1XP_016865499.1  sequestosome-1 isoform X1

      UniProtKB/Swiss-Prot
      Q13501
      Related
      ENSP00000353944.5, OTTHUMP00000198119, ENST00000360718.5, OTTHUMT00000319345
      Conserved Domains (3) summary
      cd02340
      Location:4284
      ZZ_NBR1_like; Zinc finger, ZZ type. Zinc finger present in Drosophila ref(2)P, NBR1, Human sequestosome 1 and related proteins. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or molecular scaffolding. Drosophila ref(2)P appears ...
      cl02720
      Location:118
      PB1; The PB1 domain is a modular domain mediating specific protein-protein interactions which play a role in many critical cell processes, such as osteoclastogenesis, angiogenesis, early cardiovascular development, and cell polarity. A canonical PB1-PB1 ...
      pfam16577
      Location:295356
      UBA_5; UBA domain

    Reference GRCh38.p12 PATCHES

    Genomic

    1. NW_016107298.1 Reference GRCh38.p12 PATCHES

      Range
      571957..603638
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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