STEEP1 (STING1 ER exit protein 1)

Gene

• Entrez ID: 63932
• Gene name: STING1 ER exit protein 1
• Gene symbol: STEEP1
• Synonyms (NCBI Gene): CXorf56, MRX107, STEEP, XLID107
• 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 ID	Visualize variation	Clinical significance	Consequence
rs1556220029	->TA	Pathogenic	Stop gained, coding sequence variant

Gene ontology (GO)

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
GO:0005737	Component	Cytoplasm	IDA	32690950
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	37832545
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	32690950
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005813	Component	Centrosome	IDA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IDA	32690950
GO:0016020	Component	Membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	32690950, 37832545
GO:0032481	Process	Positive regulation of type I interferon production	IDA	25636800
GO:0032527	Process	Protein exit from endoplasmic reticulum	IDA	32690950, 37832545
GO:0044297	Component	Cell body	IEA
GO:0044297	Component	Cell body	ISS
GO:0090158	Process	Endoplasmic reticulum membrane organization	IBA
GO:0090158	Process	Endoplasmic reticulum membrane organization	IDA	32690950
GO:0140896	Process	CGAS/STING signaling pathway	IDA	25636800

Other IDs

• MIM: 301012
• HGNC: 26239
• e!Ensembl: ENSG00000018610

Protein

• UniProt ID: 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
• Sequence:

  MPKVVSRSVVCSDTRDREEYDDGEKPLHVYYCLCGQMVLVLDCQLEKLPMRPRDRSRVID
  AAKHAHKFCNTEDEETMYLRRPEGIERQYRKKCAKCGLPLFYQSQPKNAPVTFIVDGAVV
  KFGQGFGKTNIYTQKQEPPKKVMMTKRTKDMGKFSSVTVSTIDEEEEEIEAREVADSYAQ
  NAKVIEKQLERKGMSKRRLQELAELEAKKAKMKGTLIDNQFK

• Sequence length: 222

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual disability, X-linked 107	Pathogenic; Likely pathogenic	rs1188300105, rs2147360775, rs2520581934, rs1556220029, rs2053171807	RCV002052442 RCV002271952 RCV003326329 RCV000626311 RCV001254153	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 107	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARTINGTON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED SYNDROMIC INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	31198491		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31822863	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	33673493	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	29374277, 31822863		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	31822863, 33673493	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	29374277		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED 107	Mental retardation	GENOMICS_ENGLAND_DG	31822863		★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31822863		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	33673493	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	31822863	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	33673493	Associate	★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations