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SEL1L3 SEL1L family member 3 [ Homo sapiens (human) ]

Gene ID: 23231, updated on 22-Aug-2020

Summary

Official Symbol
SEL1L3provided by HGNC
Official Full Name
SEL1L family member 3provided by HGNC
Primary source
HGNC:HGNC:29108
See related
Ensembl:ENSG00000091490
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-1L3
Expression
Broad expression in lymph node (RPKM 28.3), stomach (RPKM 23.4) and 20 other tissues See more
Orthologs

Genomic context

See SEL1L3 in Genome Data Viewer
Location:
4p15.2
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (25715910..25863566, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (25749049..25864647, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S29 pseudogene 11 Neighboring gene SLIRP. pseudogene 2 Neighboring gene MT-ND4L pseudogene 22 Neighboring gene MT-CO3 pseudogene 44 Neighboring gene MT-ND4 pseudogene 9 Neighboring gene MT-ND3 pseudogene 5 Neighboring gene uncharacterized LOC102723733 Neighboring gene uncharacterized LOC105374538 Neighboring gene small integral membrane protein 20

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat Microarray analysis indicates HIV-1 Tat-induced upregulation of sel-1 suppressor of lin-12-like 3 (SEL1L3) in primary human brain microvascular endothelial cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21629, FLJ41299, KIAA0746, DKFZp781J1697

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
protein sel-1 homolog 3
Names
sel-1 suppressor of lin-12-like 3
suppressor of lin-12-like protein 3

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.

mRNA and Protein(s)

  1. NM_001297592.2NP_001284521.1  protein sel-1 homolog 3 isoform 2

    See identical proteins and their annotated locations for NP_001284521.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK289687, BC060867, CR749817
    Consensus CDS
    CCDS75113.1
    UniProtKB/Swiss-Prot
    Q68CR1
    Related
    ENSP00000264868.5, ENST00000264868.9
    Conserved Domains (4) summary
    smart00671
    Location:654686
    SEL1; Sel1-like repeats
    COG0790
    Location:572813
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:674704
    SLR; SLR repeat [structural motif]
    pfam08238
    Location:696726
    Sel1; Sel1 repeat
  2. NM_001297594.2NP_001284523.1  protein sel-1 homolog 3 isoform 3

    See identical proteins and their annotated locations for NP_001284523.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in its 5' UTR and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK289687, BC060867, CR749817
    Consensus CDS
    CCDS77907.1
    UniProtKB/Swiss-Prot
    Q68CR1
    UniProtKB/TrEMBL
    A0A024R9V3
    Related
    ENSP00000425438.1, ENST00000502949.5
    Conserved Domains (2) summary
    COG0790
    Location:454695
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:556586
    SLR; SLR repeat [structural motif]
  3. NM_015187.5NP_056002.2  protein sel-1 homolog 3 isoform 1

    See identical proteins and their annotated locations for NP_056002.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK289687, BC060867, CR749817, DB479874, HY152163
    Consensus CDS
    CCDS47037.1
    UniProtKB/Swiss-Prot
    Q68CR1
    Related
    ENSP00000382767.3, ENST00000399878.8
    Conserved Domains (4) summary
    smart00671
    Location:689721
    SEL1; Sel1-like repeats
    COG0790
    Location:607848
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:709739
    SLR; SLR repeat [structural motif]
    pfam08238
    Location:731761
    Sel1; Sel1 repeat

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    25715910..25863566 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453954.1XP_024309722.1  protein sel-1 homolog 3 isoform X3

    Conserved Domains (2) summary
    COG0790
    Location:454695
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:556586
    SLR; SLR repeat [structural motif]
  2. XM_024453953.1XP_024309721.1  protein sel-1 homolog 3 isoform X1

    Conserved Domains (2) summary
    COG0790
    Location:454695
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:556586
    SLR; SLR repeat [structural motif]
  3. XM_011513819.2XP_011512121.2  protein sel-1 homolog 3 isoform X2

  4. XM_024453955.1XP_024309723.1  protein sel-1 homolog 3 isoform X4

    Conserved Domains (2) summary
    COG0790
    Location:526667
    TPR; TPR repeat [Signal transduction mechanisms]
    sd00010
    Location:519548
    SLR; SLR repeat [structural motif]

RNA

  1. XR_001741182.2 RNA Sequence

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