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

Gene ID: 64374, updated on 2-Oct-2018

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; Vega:OTTHUMG00000129226
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

Genomic context

See SIL1 in Genome Data Viewer
Location:
5q31.2
Exon count:
13
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (138946720..139198376, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (138282409..138534065, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379194 Neighboring gene catenin alpha 1 Neighboring gene leucine rich repeat transmembrane neuronal 2 Neighboring gene uncharacterized LOC105379195 Neighboring gene RNA, 5S ribosomal pseudogene 194 Neighboring gene ribosomal protein L12 pseudogene 21 Neighboring gene RNA, U6 small nuclear 572, pseudogene 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat'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

Pathways from BioSystems

  • Protein processing in endoplasmic reticulum, organism-specific biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, organism-specific biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...
  • Protein processing in endoplasmic reticulum, conserved biosystem (from KEGG)
    Protein processing in endoplasmic reticulum, conserved biosystemThe endoplasmic reticulum (ER) is a subcellular organelle where proteins are folded with the help of lumenal chaperones. Newly synthesized peptides enter the ER via the sec61 pore and are glycosylate...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
adenyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
unfolded protein binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
intracellular protein transport NAS
Non-traceable Author Statement
more info
PubMed 
protein folding NAS
Non-traceable Author Statement
more info
PubMed 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
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)

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_008112.1 RefSeqGene

    Range
    5001..256657
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001037633.1NP_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
    Q9H173
    UniProtKB/TrEMBL
    A0A0S2Z6B4
    Related
    ENSP00000265195.5, OTTHUMP00000223767, ENST00000265195.9, OTTHUMT00000373062
    Conserved Domains (1) summary
    pfam08609
    Location:192222
    Fes1; Nucleotide exchange factor Fes1
  2. NM_022464.4NP_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, BI561751, CA415266, CD369479
    Consensus CDS
    CCDS4209.1
    UniProtKB/Swiss-Prot
    Q9H173
    UniProtKB/TrEMBL
    A0A0S2Z6B4
    Related
    ENSP00000378294.2, OTTHUMP00000159527, ENST00000394817.6, OTTHUMT00000251319
    Conserved Domains (1) summary
    pfam08609
    Location:192222
    Fes1; Nucleotide exchange factor Fes1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    138946720..139198376 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543570.2XP_011541872.1  nucleotide exchange factor SIL1 isoform X1

    Conserved Domains (1) summary
    pfam08609
    Location:203232
    Fes1; Nucleotide exchange factor Fes1
  2. XM_024446164.1XP_024301932.1  nucleotide exchange factor SIL1 isoform X2

    Conserved Domains (1) summary
    pfam08609
    Location:192222
    Fes1; Nucleotide exchange factor Fes1
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