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

Gene ID: 64374, updated on 3-Nov-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
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Genomic context

See SIL1 in Genome Data Viewer
Location:
5q31.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138946724..139198368, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (139472860..139724442, complement)
RS_2024_09 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 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)

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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.

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_2024_08

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