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

Gene ID: 80343, updated on 18-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
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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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