STEEP1 - STING1 ER exit protein 1 Gene

Homo sapiens

Also known as STEEP; MRX107; CXorf56; XLID107

Gene ID: 63932 | Gene type: protein coding

About STEEP1

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,538,149-119,565,409 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 6.7), fat (RPKM 5.9) and 25 other tissues.

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]

STEEP1 Products(3)

mRNA	Protein	Name
NM_001170569.1	NP_001164040.1	STING ER exit protein isoform 2
NM_001170570.2	NP_001164041.1	STING ER exit protein isoform 3
NM_022101.4	NP_071384.1	STING ER exit protein isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	32690950	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in endoplasmic reticulum membrane organization	IDA IDA: Inferred from direct assay	32690950	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IDA IDA: Inferred from direct assay	32690950	GOA
involved in protein exit from endoplasmic reticulum	IDA IDA: Inferred from direct assay	32690950	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	32690950	GOA
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	37832545	GOA
is active in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	32690950	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29374277	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

STING ER exit protein

UPF0428 protein CXorf56

STEEP1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	STEEP1	Q9H5V9	RPRD1B	Homo sapiens	Q9NQG5	Validated Y2H	32296183
Intra	STEEP1	Q9H5V9	KIF9	Homo sapiens	Q9HAQ2	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder, X-Linked 107

XLID107	Mrx107
Mental Retardation, X-Linked 107	Mental Retardation, X-Linked, Type 107

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

Non-Syndromic X-Linked Intellectual Disability 107

Mrx107

X-Linked Mental Retardation 107

Syndromic X-Linked Intellectual Disability Shashi Type

Mental Retardation, X-Linked, Syndromic 11, Shashi Type	Mrxs11
Shashi X-Linked Mental Retardation Syndrome	Smrxs
Syndromic X-Linked Intellectual Disability Type 11	X-Linked Mental Retardation Shashi Type
Mental Retardation, X-Linked, Syndromic 11

Body Dysmorphic Disorder

Dysmorphophobia	Body Dysmorphia
Dysmorphic Syndrome	Body Dysmorphic Disorders

Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant

EDMD4	Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4	Emd4
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant	Emery-Dreifuss Muscular Dystrophy 4

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13910	STEEP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	STEEP1	VGNC	VGNC:71588
Bos taurus	STEEP1	VGNC	VGNC:52759
Canis familiaris	STEEP1	VGNC	VGNC:54130
Rattus norvegicus	STEEP1	RGD	RGD:1564541
Mus musculus	STEEP1	MGD	MGI:1924894

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