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SEL1L2 SEL1L2 adaptor subunit of ERAD E3 ligase [ Homo sapiens (human) ]

Gene ID: 80343, updated on 25-Nov-2021

Summary

Official Symbol
SEL1L2provided by HGNC
Official Full Name
SEL1L2 adaptor subunit of ERAD E3 ligaseprovided by HGNC
Primary source
HGNC:HGNC:15897
See related
Ensembl:ENSG00000101251 MIM:614289
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
Expression
Restricted expression toward testis (RPKM 3.8) See more
Orthologs
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Genomic context

See SEL1L2 in Genome Data Viewer
Location:
20p12.1
Exon count:
26
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (13848586..13995333, complement)
105.20201022 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 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

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 Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein sel-1 homolog 2
Names
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_001271539.2NP_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:407441
    SEL1; Sel1-like repeats
    COG0790
    Location:285501
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:317346
    SLR; SLR repeat [structural motif]
  2. NM_001363752.2NP_001350681.1  protein sel-1 homolog 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL109657, AL117333
    Consensus CDS
    CCDS86933.1
    Related
    ENSP00000494947.1, ENST00000646153.1
    Conserved Domains (2) summary
    COG0790
    Location:187370
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:187215
    SLR; SLR repeat [structural motif]
  3. NM_025229.2NP_079505.1  protein sel-1 homolog 2 isoform 3 precursor

    Status: VALIDATED

    Source sequence(s)
    AL109657, BC035741, DC398207
    Related
    ENSP00000284951.5, ENST00000284951.10
    Conserved Domains (3) summary
    COG0790
    Location:151445
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:317346
    SLR; SLR repeat [structural motif]
    cl25732
    Location:18128
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    13848586..13995333 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028084.2XP_016883573.1  protein sel-1 homolog 2 isoform X14

  2. XM_006723654.4XP_006723717.1  protein sel-1 homolog 2 isoform X13

    Conserved Domains (3) summary
    smart00671
    Location:252284
    SEL1; Sel1-like repeats
    COG0790
    Location:1289
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:1847
    SLR; SLR repeat [structural motif]
  3. XM_006723652.3XP_006723715.1  protein sel-1 homolog 2 isoform X10

    Conserved Domains (3) summary
    smart00671
    Location:407441
    SEL1; Sel1-like repeats
    COG0790
    Location:285501
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:317346
    SLR; SLR repeat [structural motif]
  4. XM_011529377.2XP_011527679.1  protein sel-1 homolog 2 isoform X7

    Conserved Domains (3) summary
    smart00671
    Location:503535
    SEL1; Sel1-like repeats
    COG0790
    Location:251540
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:232261
    SLR; SLR repeat [structural motif]
  5. XM_011529374.2XP_011527676.1  protein sel-1 homolog 2 isoform X4

    Conserved Domains (3) summary
    smart00671
    Location:568600
    SEL1; Sel1-like repeats
    COG0790
    Location:316605
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:297326
    SLR; SLR repeat [structural motif]
  6. XM_011529376.2XP_011527678.1  protein sel-1 homolog 2 isoform X6

    Conserved Domains (3) summary
    smart00671
    Location:532564
    SEL1; Sel1-like repeats
    COG0790
    Location:280569
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:263290
    SLR; SLR repeat [structural motif]
  7. XM_011529375.2XP_011527677.1  protein sel-1 homolog 2 isoform X5

    Conserved Domains (3) summary
    smart00671
    Location:551583
    SEL1; Sel1-like repeats
    COG0790
    Location:299588
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:280309
    SLR; SLR repeat [structural motif]
  8. XM_024452003.1XP_024307771.1  protein sel-1 homolog 2 isoform X9

    Conserved Domains (2) summary
    COG0790
    Location:62333
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:205234
    SLR; SLR repeat [structural motif]
  9. XM_011529378.2XP_011527680.1  protein sel-1 homolog 2 isoform X9

    Conserved Domains (2) summary
    COG0790
    Location:62333
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:205234
    SLR; SLR repeat [structural motif]
  10. XM_011529379.2XP_011527681.1  protein sel-1 homolog 2 isoform X11

    Conserved Domains (3) summary
    smart00671
    Location:449481
    SEL1; Sel1-like repeats
    COG0790
    Location:197486
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:178207
    SLR; SLR repeat [structural motif]
  11. XM_006723648.3XP_006723711.1  protein sel-1 homolog 2 isoform X3

    Conserved Domains (3) summary
    smart00671
    Location:569601
    SEL1; Sel1-like repeats
    COG0790
    Location:317606
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:299327
    SLR; SLR repeat [structural motif]
  12. XM_006723646.3XP_006723709.1  protein sel-1 homolog 2 isoform X1

    Conserved Domains (3) summary
    smart00671
    Location:588620
    SEL1; Sel1-like repeats
    COG0790
    Location:336625
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:317346
    SLR; SLR repeat [structural motif]
  13. XM_006723650.2XP_006723713.1  protein sel-1 homolog 2 isoform X8

    See identical proteins and their annotated locations for XP_006723713.1

    Conserved Domains (3) summary
    smart00671
    Location:407441
    SEL1; Sel1-like repeats
    COG0790
    Location:151445
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:317346
    SLR; SLR repeat [structural motif]
  14. XM_006723651.2XP_006723714.1  protein sel-1 homolog 2 isoform X8

    See identical proteins and their annotated locations for XP_006723714.1

    Conserved Domains (3) summary
    smart00671
    Location:407441
    SEL1; Sel1-like repeats
    COG0790
    Location:151445
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:317346
    SLR; SLR repeat [structural motif]
  15. XM_006723656.2XP_006723719.1  protein sel-1 homolog 2 isoform X16

    Conserved Domains (3) summary
    smart00671
    Location:216247
    SEL1; Sel1-like repeats
    COG0790
    Location:125247
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:126155
    SLR; SLR repeat [structural motif]
  16. XM_006723655.2XP_006723718.1  protein sel-1 homolog 2 isoform X15

    Conserved Domains (3) summary
    smart00671
    Location:216247
    SEL1; Sel1-like repeats
    COG0790
    Location:125247
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:126155
    SLR; SLR repeat [structural motif]

RNA

  1. XR_430271.3 RNA Sequence

  2. XR_430270.3 RNA Sequence

  3. XR_937162.1 RNA Sequence

  4. XR_937159.1 RNA Sequence

  5. XR_937160.1 RNA Sequence

  6. XR_937165.1 RNA Sequence

  7. XR_937163.1 RNA Sequence

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