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    SEL1L2 SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase [ Homo sapiens (human) ]

    Gene ID: 80343, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SEL1L2provided by HGNC
    Official Full Name
    SEL1L2 adaptor subunit of SYVN1 ubiquitin ligaseprovided by HGNC
    Primary source
    HGNC:HGNC:15897
    See related
    Ensembl:ENSG00000101251 MIM:614289; AllianceGenome:HGNC:15897
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    sel-1L2; C20orf50
    Summary
    Predicted to be involved in ERAD pathway. Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis (RPKM 3.8) See more
    Orthologs
    mouse all
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    Genomic context

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    See SEL1L2 in Genome Data Viewer
    Location:
    20p12.1
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (13849247..13995333, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (13893057..14044585, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (13829893..13975979, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17552 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:13765895-13766584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12680 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 5 Neighboring gene ESF1 nucleolar pre-rRNA processing protein homolog Neighboring gene tRNA-Glu (CTC) 10-1 Neighboring gene RNA, U6 small nuclear 278, pseudogene Neighboring gene mono-ADP ribosylhydrolase 2 Neighboring gene ribosomal protein S3 pseudogene 1 Neighboring gene aminoacyl tRNA synthetase complex interacting multifunctional protein 1 pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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 Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification of a region within SEL1L protein required for tumour growth inhibition. Cattaneo M, et al. Gene, 2004 Feb 4. PMID 14729273
    2. Uncovering structural themes across cilia microtubule inner proteins with implications for human cilia function. Andersen JS, et al. Nat Commun, 2024 Mar 27. PMID 38538594, Free PMC Article
    3. Phosphorylation and degradation of tomosyn-2 de-represses insulin secretion. Bhatnagar S, et al. J Biol Chem, 2014 Sep 5. PMID 25002582, Free PMC Article
    4. Physical and functional interactome atlas of human receptor tyrosine kinases. Salokas K, et al. EMBO Rep, 2022 Jun 7. PMID 35384245, Free PMC Article
    5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. Liu X, et al. Nat Commun, 2018 Mar 22. PMID 29568061, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22324, DKFZp434C1826, DKFZp686O2090

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in ERAD pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein sel-1 homolog 2
    Names
    SEL1L2 adaptor subunit of ERAD E3 ligase
    SEL1L2 adaptor subunit of ERAD E3 ubiquitin ligase
    SEL1L2, ERAD E3 ligase adaptor subunit
    sel-1 suppressor of lin-12-like 2
    suppressor of lin-12-like protein 2

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_001271539.2 → NP_001258468.1  protein sel-1 homolog 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001258468.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AK302170, AL109657, DA857535
      Consensus CDS
      CCDS59443.1
      UniProtKB/Swiss-Prot
      Q5TEA6
      Related
      ENSP00000367312.5, ENST00000378072.5
      Conserved Domains (3) summary
      smart00671
      Location:407 → 441
      SEL1; Sel1-like repeats
      COG0790
      Location:285 → 501
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:317 → 346
      SLR; SLR repeat [structural motif]

    2. NM_001363752.2 → NP_001350681.1  protein sel-1 homolog 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL109657, AL117333
      Consensus CDS
      CCDS86933.1
      UniProtKB/TrEMBL
      A0A2R8YF92
      Related
      ENSP00000494947.1, ENST00000646153.1
      Conserved Domains (2) summary
      COG0790
      Location:187 → 370
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:187 → 215
      SLR; SLR repeat [structural motif]

    3. NM_025229.2 → NP_079505.1  protein sel-1 homolog 2 isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL109657, BC035741, DC398207
      UniProtKB/Swiss-Prot
      B4DXX5, Q5TEA6
      Related
      ENSP00000284951.5, ENST00000284951.10
      Conserved Domains (3) summary
      COG0790
      Location:151 → 445
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:317 → 346
      SLR; SLR repeat [structural motif]
      cl25732
      Location:18 → 128
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_073206.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302170, AL109657, BC035741, DA857535, DC396776
      Related
      ENST00000423870.6

    2. NR_073207.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks a 5' exon and uses an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks the translational start codon, found in variant 1, and because use of the 5'-most expected translation start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK302170, AL109657, AL137678, DA857535, DB468041
      Related
      ENST00000486903.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      13849247..13995333 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006723650.3 → XP_006723713.1  protein sel-1 homolog 2 isoform X7

      See identical proteins and their annotated locations for XP_006723713.1

      Conserved Domains (3) summary
      smart00671
      Location:407 → 441
      SEL1; Sel1-like repeats
      COG0790
      Location:151 → 445
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:317 → 346
      SLR; SLR repeat [structural motif]

    2. XM_047440521.1 → XP_047296477.1  protein sel-1 homolog 2 isoform X8

    3. XM_011529374.3 → XP_011527676.1  protein sel-1 homolog 2 isoform X3

      Conserved Domains (3) summary
      smart00671
      Location:568 → 600
      SEL1; Sel1-like repeats
      COG0790
      Location:316 → 605
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:297 → 326
      SLR; SLR repeat [structural motif]

    4. XM_011529376.3 → XP_011527678.1  protein sel-1 homolog 2 isoform X5

      Conserved Domains (3) summary
      smart00671
      Location:532 → 564
      SEL1; Sel1-like repeats
      COG0790
      Location:280 → 569
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:263 → 290
      SLR; SLR repeat [structural motif]

    5. XM_011529375.3 → XP_011527677.1  protein sel-1 homolog 2 isoform X4

      Conserved Domains (3) summary
      smart00671
      Location:551 → 583
      SEL1; Sel1-like repeats
      COG0790
      Location:299 → 588
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:280 → 309
      SLR; SLR repeat [structural motif]

    6. XM_047440522.1 → XP_047296478.1  protein sel-1 homolog 2 isoform X10

    7. XM_006723648.4 → XP_006723711.1  protein sel-1 homolog 2 isoform X2

      Conserved Domains (3) summary
      smart00671
      Location:569 → 601
      SEL1; Sel1-like repeats
      COG0790
      Location:317 → 606
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:299 → 327
      SLR; SLR repeat [structural motif]

    8. XM_006723652.4 → XP_006723715.1  protein sel-1 homolog 2 isoform X9

      Conserved Domains (3) summary
      smart00671
      Location:407 → 441
      SEL1; Sel1-like repeats
      COG0790
      Location:285 → 501
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:317 → 346
      SLR; SLR repeat [structural motif]

    9. XM_006723651.3 → XP_006723714.1  protein sel-1 homolog 2 isoform X7

      See identical proteins and their annotated locations for XP_006723714.1

      Conserved Domains (3) summary
      smart00671
      Location:407 → 441
      SEL1; Sel1-like repeats
      COG0790
      Location:151 → 445
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:317 → 346
      SLR; SLR repeat [structural motif]

    10. XM_006723646.4 → XP_006723709.1  protein sel-1 homolog 2 isoform X1

      Conserved Domains (3) summary
      smart00671
      Location:588 → 620
      SEL1; Sel1-like repeats
      COG0790
      Location:336 → 625
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:317 → 346
      SLR; SLR repeat [structural motif]

    11. XM_024452003.2 → XP_024307771.1  protein sel-1 homolog 2 isoform X8

      Conserved Domains (2) summary
      COG0790
      Location:62 → 333
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:205 → 234
      SLR; SLR repeat [structural motif]

    12. XM_047440520.1 → XP_047296476.1  protein sel-1 homolog 2 isoform X6

    13. XM_011529378.3 → XP_011527680.1  protein sel-1 homolog 2 isoform X8

      Conserved Domains (2) summary
      COG0790
      Location:62 → 333
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:205 → 234
      SLR; SLR repeat [structural motif]

    14. XM_011529379.3 → XP_011527681.1  protein sel-1 homolog 2 isoform X11

      Conserved Domains (3) summary
      smart00671
      Location:449 → 481
      SEL1; Sel1-like repeats
      COG0790
      Location:197 → 486
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:178 → 207
      SLR; SLR repeat [structural motif]

    15. XM_006723654.5 → XP_006723717.1  protein sel-1 homolog 2 isoform X14

      Conserved Domains (3) summary
      smart00671
      Location:252 → 284
      SEL1; Sel1-like repeats
      COG0790
      Location:1 → 289
      TPR; TPR repeat [Signal transduction mechanisms]
      sd00010
      Location:18 → 47
      SLR; SLR repeat [structural motif]

    16. XM_047440523.1 → XP_047296479.1  protein sel-1 homolog 2 isoform X12

    17. XM_047440524.1 → XP_047296480.1  protein sel-1 homolog 2 isoform X13

    RNA

    1. XR_937162.2 RNA Sequence

    2. XR_937159.2 RNA Sequence

    3. XR_937160.2 RNA Sequence

    4. XR_937163.2 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791811.1 Reference GRCh38.p14 PATCHES

      Range
      57798..208942 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333268.1 → XP_054189243.1  protein sel-1 homolog 2 isoform X7

    2. XM_054333270.1 → XP_054189245.1  protein sel-1 homolog 2 isoform X8

    3. XM_054333264.1 → XP_054189239.1  protein sel-1 homolog 2 isoform X3

    4. XM_054333266.1 → XP_054189241.1  protein sel-1 homolog 2 isoform X5

    5. XM_054333265.1 → XP_054189240.1  protein sel-1 homolog 2 isoform X4

    6. XM_054333274.1 → XP_054189249.1  protein sel-1 homolog 2 isoform X10

    7. XM_054333263.1 → XP_054189238.1  protein sel-1 homolog 2 isoform X2

    8. XM_054333273.1 → XP_054189248.1  protein sel-1 homolog 2 isoform X9

    9. XM_054333269.1 → XP_054189244.1  protein sel-1 homolog 2 isoform X7

    10. XM_054333262.1 → XP_054189237.1  protein sel-1 homolog 2 isoform X1

    11. XM_054333271.1 → XP_054189246.1  protein sel-1 homolog 2 isoform X8

    12. XM_054333267.1 → XP_054189242.1  protein sel-1 homolog 2 isoform X6

    13. XM_054333272.1 → XP_054189247.1  protein sel-1 homolog 2 isoform X8

    14. XM_054333275.1 → XP_054189250.1  protein sel-1 homolog 2 isoform X11

    15. XM_054333278.1 → XP_054189253.1  protein sel-1 homolog 2 isoform X14

    16. XM_054333276.1 → XP_054189251.1  protein sel-1 homolog 2 isoform X12

    17. XM_054333277.1 → XP_054189252.1  protein sel-1 homolog 2 isoform X13

    RNA

    1. XR_008485834.1 RNA Sequence

    2. XR_008485832.1 RNA Sequence

    3. XR_008485833.1 RNA Sequence

    4. XR_008485835.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      13893057..14044585 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324069.1 → XP_054180044.1  protein sel-1 homolog 2 isoform X7

    2. XM_054324071.1 → XP_054180046.1  protein sel-1 homolog 2 isoform X8

    3. XM_054324065.1 → XP_054180040.1  protein sel-1 homolog 2 isoform X3

    4. XM_054324067.1 → XP_054180042.1  protein sel-1 homolog 2 isoform X5

    5. XM_054324066.1 → XP_054180041.1  protein sel-1 homolog 2 isoform X4

    6. XM_054324075.1 → XP_054180050.1  protein sel-1 homolog 2 isoform X10

    7. XM_054324064.1 → XP_054180039.1  protein sel-1 homolog 2 isoform X2

    8. XM_054324074.1 → XP_054180049.1  protein sel-1 homolog 2 isoform X9

    9. XM_054324070.1 → XP_054180045.1  protein sel-1 homolog 2 isoform X7

    10. XM_054324063.1 → XP_054180038.1  protein sel-1 homolog 2 isoform X1

    11. XM_054324072.1 → XP_054180047.1  protein sel-1 homolog 2 isoform X8

    12. XM_054324068.1 → XP_054180043.1  protein sel-1 homolog 2 isoform X6

    13. XM_054324073.1 → XP_054180048.1  protein sel-1 homolog 2 isoform X8

    14. XM_054324076.1 → XP_054180051.1  protein sel-1 homolog 2 isoform X11

    15. XM_054324079.1 → XP_054180054.1  protein sel-1 homolog 2 isoform X14

    16. XM_054324077.1 → XP_054180052.1  protein sel-1 homolog 2 isoform X12

    17. XM_054324078.1 → XP_054180053.1  protein sel-1 homolog 2 isoform X13

    RNA

    1. XR_008485305.1 RNA Sequence

    2. XR_008485303.1 RNA Sequence

    3. XR_008485304.1 RNA Sequence

    4. XR_008485306.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5TEA6.2 GenPept UniProtKB/Swiss-Prot:Q5TEA6

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