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    SIL1 SIL1 nucleotide exchange factor [ Homo sapiens (human) ]

    Gene ID: 64374, updated on 3-Apr-2024

    Summary

    Official Symbol
    SIL1provided by HGNC
    Official Full Name
    SIL1 nucleotide exchange factorprovided by HGNC
    Primary source
    HGNC:HGNC:24624
    See related
    Ensembl:ENSG00000120725 MIM:608005; AllianceGenome:HGNC:24624
    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
    BAP; MSS; ULG5
    Summary
    This gene encodes a resident endoplasmic reticulum (ER), N-linked glycoprotein with an N-terminal ER targeting sequence, 2 putative N-glycosylation sites, and a C-terminal ER retention signal. This protein functions as a nucleotide exchange factor for another unfolded protein response protein. Mutations in this gene have been associated with Marinesco-Sjogren syndrome. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in testis (RPKM 23.5), thyroid (RPKM 19.7) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SIL1 in Genome Data Viewer
    Location:
    5q31.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138946724..139198368, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139472860..139724442, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138282413..138534057, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138089147-138089714 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138089715-138090281 Neighboring gene CTNNA1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23216 Neighboring gene catenin alpha 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138164188-138164688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138188550-138189082 Neighboring gene leucine rich repeat transmembrane neuronal 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:138279886-138280098 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138284538-138285402 Neighboring gene uncharacterized LOC124901079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:138289067-138290004 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138346233-138346880 Neighboring gene uncharacterized LOC124901080 Neighboring gene RNA, 5S ribosomal pseudogene 194 Neighboring gene ribosomal protein L12 pseudogene 21 Neighboring gene MPRA-validated peak5496 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16405 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:138559318-138560164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:138567539-138568038 Neighboring gene RNA, U6 small nuclear 572, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16406 Neighboring gene uncharacterized LOC124901081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23218 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16407 Neighboring gene small nucleolar RNA, H/ACA box 74D Neighboring gene small nucleolar RNA host gene 4 Neighboring gene matrin 3

    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?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 interacts with SIL1; predicted interaction to be within the endoplasmic reticulum and function as chaperone for endoplasmic reticulum-associated degradation PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables adenyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables adenyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cotranslational protein targeting to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
     
    located_in extracellular space HDA PubMed 

    General protein information

    Preferred Names
    nucleotide exchange factor SIL1
    Names
    BiP-associated protein
    SIL1 homolog, endoplasmic reticulum chaperone
    SIL1-like protein endoplasmic reticulum chaperone

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008112.2 RefSeqGene

      Range
      5009..256653
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001037633.2NP_001032722.1  nucleotide exchange factor SIL1 precursor

      See identical proteins and their annotated locations for NP_001032722.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC008614, AC011378, AC011405, CA415266, CB125000, CD369479
      Consensus CDS
      CCDS4209.1
      UniProtKB/Swiss-Prot
      D3DQC2, Q8N2L3, Q9H173
      UniProtKB/TrEMBL
      A0A0S2Z6B4, D6REA1
      Related
      ENSP00000265195.5, ENST00000265195.9
      Conserved Domains (1) summary
      pfam08609
      Location:192222
      Fes1; Nucleotide exchange factor Fes1
    2. NM_022464.5NP_071909.1  nucleotide exchange factor SIL1 precursor

      See identical proteins and their annotated locations for NP_071909.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 5'UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK074624, BC011568, CA415266, CD369479
      Consensus CDS
      CCDS4209.1
      UniProtKB/Swiss-Prot
      D3DQC2, Q8N2L3, Q9H173
      UniProtKB/TrEMBL
      A0A0S2Z6B4, D6REA1
      Related
      ENSP00000378294.2, ENST00000394817.7
      Conserved Domains (1) summary
      pfam08609
      Location:192222
      Fes1; Nucleotide exchange factor Fes1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      138946724..139198368 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543570.3XP_011541872.1  nucleotide exchange factor SIL1 isoform X1

      UniProtKB/TrEMBL
      D6REA1
      Conserved Domains (1) summary
      pfam08609
      Location:203232
      Fes1; Nucleotide exchange factor Fes1
    2. XM_047417498.1XP_047273454.1  nucleotide exchange factor SIL1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQC2, Q8N2L3, Q9H173
      UniProtKB/TrEMBL
      A0A0S2Z6B4
    3. XM_047417496.1XP_047273452.1  nucleotide exchange factor SIL1 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      139472860..139724442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353098.1XP_054209073.1  nucleotide exchange factor SIL1 isoform X1

    2. XM_054353100.1XP_054209075.1  nucleotide exchange factor SIL1 isoform X2

      UniProtKB/Swiss-Prot
      D3DQC2, Q8N2L3, Q9H173
      UniProtKB/TrEMBL
      A0A0S2Z6B4
    3. XM_054353099.1XP_054209074.1  nucleotide exchange factor SIL1 isoform X1