STEEP1 (STING1 ER exit protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 63932
Gene name STING1 ER exit protein 1
Gene symbol STEEP1
Synonyms (NCBI Gene)
CXorf56MRX107STEEPXLID107
Chromosome X
Chromosome location Xq24
Summary While this gene is well-supported by transcript data, no functional information on its protein products is currently available. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
SNPs SNP information provided by dbSNP.
1
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1556220029 ->TA Pathogenic Stop gained, coding sequence variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (23)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 29374277, 32690950
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
301012 26239 ENSG00000018610
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H5V9
Protein name STING ER exit protein (STEEP)
Protein function Molecular adapter that stimulates membrane curvature formation and subsequent endoplasmic reticulum exit site (ERES) establishment by recruiting PI3K complex I, leading to COPII vesicle-mediated transport (PubMed:32690950). Promotes endoplasmic
PDB 8C6J , 9FMD
Family and domains
Sequence 
MPKVVSRSVVCSDTRDREEYDDGEKPLHVYYCLCGQMVLVLDCQLEKLPMRPRDRSRVID
AAKHAHKFCNTEDEETMYLRRPEGIERQYRKKCAKCGLPLFYQSQPKNAPVTFIVDGAVV
KFGQGFGKTNIYTQKQEPPKKVMMTKRTKDMGKFSSVTVSTIDEEEEEIEAREVADSYAQ
NAKVIEKQLERKGMSKRRLQELAELEAKKAKMKGTLIDNQFK
Sequence length 222
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability, X-linked 107 Pathogenic; Likely pathogenic rs1188300105, rs2147360775, rs2520581934, rs1556220029, rs2053171807 RCV002052442
RCV002271952
RCV003326329
RCV000626311
RCV001254153