SIL1

Protein identityUniProt · HPA

UniProt accession

Q9H173

Gene

SIL1

Ensembl

ENSG00000120725

Chromosome

5

Canonical length

461 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

461 residues, UniProt reviewed canonical sequence.

>Q9H173|SIL1
     1  MAPQSLPSSR MAPLGMLLGL LMAACFTFCL SHQNLKEFAL TNPEKSSTKE TERKETKAEE
    61  ELDAEVLEVF HPTHEWQALQ PGQAVPAGSH VRLNLQTGER EAKLQYEDKF RNNLKGKRLD
   121  INTNTYTSQD LKSALAKFKE GAEMESSKED KARQAEVKRL FRPIEELKKD FDELNVVIET
   181  DMQIMVRLIN KFNSSSSSLE EKIAALFDLE YYVHQMDNAQ DLLSFGGLQV VINGLNSTEP
   241  LVKEYAAFVL GAAFSSNPKV QVEAIEGGAL QKLLVILATE QPLTAKKKVL FALCSLLRHF
   301  PYAQRQFLKL GGLQVLRTLV QEKGTEVLAV RVVTLLYDLV TEKMFAEEEA ELTQEMSPEK
   361  LQQYRQVHLL PGLWEQGWCE ITAHLLALPE HDAREKVLQT LGVLLTTCRD RYRQDPQLGR
   421  TLASLQAEYQ VLASLELQDG EDEGYFQELL GSVNSLLKEL R

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SIL1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.38

Highest tissue expression

64 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SIL1.

Disease | AllUniProt

Conditions SIL1 is implicated in, by any mechanism.

• Marinesco-Sjoegren syndrome (MSS) MIM:248800

Disease | GeneticClinVar

35 pathogenic / likely-pathogenic of 422 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Marinesco-Sjögren syndrome
• See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.64

gnomAD pLI

0.01

gnomAD missense Z

0.47

DepMap mean gene effect

-0.08

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cotranslational protein targeting to membrane
• intracellular protein transport
• protein folding

Molecular functions

• adenyl-nucleotide exchange factor activity
• identical protein binding
• unfolded protein binding

Cellular components

• endoplasmic reticulum
• endoplasmic reticulum lumen
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• Armadillo-like helical
• Nucleotide exchange factor Fes1
• Armadillo-type fold
• SIL1/FES1/HPBP1
• Nucleotide exchange factor Fes1

KeywordsUniProt

• Endoplasmic reticulum
• Glycoprotein
• Protein transport
• Signal
• Translocation
• Transport
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of SIL1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• HSPA5