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STEEP1 STING1 ER exit protein 1 [ Homo sapiens (human) ]

Gene ID: 63932, updated on 3-Nov-2024

Summary

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Official Symbol
STEEP1provided by HGNC
Official Full Name
STING1 ER exit protein 1provided by HGNC
Primary source
HGNC:HGNC:26239
See related
Ensembl:ENSG00000018610 MIM:301012; AllianceGenome:HGNC:26239
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
STEEP; MRX107; CXorf56; XLID107
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]
Expression
Ubiquitous expression in thyroid (RPKM 6.7), fat (RPKM 5.9) and 25 other tissues See more
Orthologs
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Genomic context

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See STEEP1 in Genome Data Viewer
Location:
Xq24
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (119538149..119565409, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (117915908..117943135, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (118672112..118699372, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3305 Neighboring gene RNY3 pseudogene 16 Neighboring gene SLC25A5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20959 Neighboring gene solute carrier family 25 member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29881 Neighboring gene Sharpr-MPRA regulatory region 9216 Neighboring gene Sharpr-MPRA regulatory region 13316 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118675673-118676174 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118676175-118676674 Neighboring gene uncharacterized LOC124905208 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708298-118708798 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:118708799-118709299 Neighboring gene ubiquitin conjugating enzyme E2 A

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A Fragment of Apolipoprotein E4 Leads to the Downregulation of a CXorf56 Homologue, a Novel ER-Associated Protein, and Activation of BV2 Microglial Cells. Pollock TB, et al. Oxid Med Cell Longev, 2019. PMID 31198491, Free PMC Article
  2. Novel clinical and genetic insight into CXorf56-associated intellectual disability. Rocha ME, et al. Eur J Hum Genet, 2020 Mar. PMID 31822863, Free PMC Article
  3. The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes. Wolańska E, et al. Genes (Basel), 2021 Feb 27. PMID 33673493, Free PMC Article
  4. STEEP mediates STING ER exit and activation of signaling. Zhang BC, et al. Nat Immunol, 2020 Aug. PMID 32690950, Free PMC Article
  5. CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability. Verkerk AJMH, et al. Eur J Hum Genet, 2018 Apr. PMID 29374277, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.
    Title: The Role of the Reanalysis of Genetic Test Results in the Diagnosis of Dysmorphic Syndrome Caused by Inherited xq24 Deletion including the UBE2A and CXorf56 Genes.
  2. Novel clinical and genetic insight into CXorf56-associated intellectual disability.
    Title: Novel clinical and genetic insight into CXorf56-associated intellectual disability.
  3. STEEP mediates STING ER exit and activation of signaling.
    Title: STEEP mediates STING ER exit and activation of signaling.
  4. Pathogenic CXorf56 variant was identified in the family with X-linked intellectual disability.
    Title: CXorf56, a dendritic neuronal protein, identified as a new candidate gene for X-linked intellectual disability.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Intellectual disability, X-linked 107
MedGen: C4692652 OMIM: 301013 GeneReviews: Not available
not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22965

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein-macromolecule adaptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in endoplasmic reticulum membrane organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum membrane organization IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein exit from endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cell body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in centrosome IDA
Inferred from Direct Assay
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
STING ER exit protein
Names
UPF0428 protein CXorf56

NCBI Reference Sequences (RefSeq)

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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_016378.1 RefSeqGene

    Range
    5026..32286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170569.1 → NP_001164040.1  STING ER exit protein isoform 2

    See identical proteins and their annotated locations for NP_001164040.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction at the 3' end of the first exon, which causes a frameshift and use of a downstream AUG. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC004000, BQ223940, DA590933, DA921725
    Consensus CDS
    CCDS55484.1
    UniProtKB/Swiss-Prot
    Q9H5V9
    Related
    ENSP00000320345.4, ENST00000320339.8

  2. NM_001170570.2 → NP_001164041.1  STING ER exit protein isoform 3

    See identical proteins and their annotated locations for NP_001164041.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC004000, AK298877, BQ223940, DB033119
    Consensus CDS
    CCDS55485.1
    Related
    ENSP00000441786.1, ENST00000536133.2

  3. NM_022101.4 → NP_071384.1  STING ER exit protein isoform 1

    See identical proteins and their annotated locations for NP_071384.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC004000, BQ223940, DA921725
    Consensus CDS
    CCDS94660.1
    UniProtKB/Swiss-Prot
    A8MPX7, B4DQN2, D3DWH9, F5GWL7, O43351, Q9H5V9
    Related
    ENSP00000494123.2, ENST00000644802.2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    119538149..119565409 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791817.1 Reference GRCh38.p14 PATCHES

    Range
    5164..16410 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    117915908..117943135 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H5V9.1 GenPept UniProtKB/Swiss-Prot:Q9H5V9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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