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

Gene ID: 64374, updated on 6-Jul-2014
Official Symbol
SIL1provided by HGNC
Official Full Name
SIL1 nucleotide exchange factorprovided by HGNC
Primary source
HGNC:24624
Locus tag
UNQ545/PRO836
See related
Ensembl:ENSG00000120725; HPRD:12150; 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]
See SIL1 in Epigenomics, MapViewer
Location:
5q31
Exon count :
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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 ribosomal protein L10a pseudogene 10 Neighboring gene catenin (cadherin-associated protein), alpha 1, 102kDa Neighboring gene leucine rich repeat transmembrane neuronal 2 Neighboring gene ribosomal protein L12 pseudogene 21 Neighboring gene small nucleolar RNA, H/ACA box 74A Neighboring gene RNA, 5S ribosomal pseudogene 195 Neighboring gene small nucleolar RNA host gene 4 (non-protein coding) Neighboring gene matrin 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 
Component Evidence Code Pubs
endoplasmic reticulum NAS
Non-traceable Author Statement
more info
PubMed 
endoplasmic reticulum lumen IEA
Inferred from Electronic Annotation
more info
 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
nucleotide exchange factor SIL1
Names
nucleotide exchange factor SIL1
BiP-associated protein
SIL1 homolog, endoplasmic reticulum chaperone

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 

    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 proteins identical to 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
    Related
    ENSP00000265195, OTTHUMP00000223767, ENST00000265195, OTTHUMT00000373062
    Conserved Domains (1) summary
    cl02500
    Location:220335
    Blast Score: 80
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
  2. NM_022464.4NP_071909.1  nucleotide exchange factor SIL1 precursor

    See proteins identical to 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
    Related
    ENSP00000378294, OTTHUMP00000159527, ENST00000394817, OTTHUMT00000251319
    Conserved Domains (1) summary
    cl02500
    Location:220335
    Blast Score: 80
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

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

mRNA and Protein(s)

  1. XM_006714671.1XP_006714734.1  

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    133472204..133723612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    137714967..137966619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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