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

    Gene ID: 63932, updated on 28-Oct-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
    mouse all
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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. 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
    5. STEEP mediates STING ER exit and activation of signaling. Zhang BC, et al. Nat Immunol, 2020 Aug. PMID 32690950, Free PMC Article

    See all (70) 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)

    Genotypes

    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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