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    C8orf44-SGK3 C8orf44-SGK3 readthrough [ Homo sapiens (human) ]

    Gene ID: 100533105, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C8orf44-SGK3provided by HGNC
    Official Full Name
    C8orf44-SGK3 readthroughprovided by HGNC
    Primary source
    HGNC:HGNC:48354
    See related
    Ensembl:ENSG00000288602 AllianceGenome:HGNC:48354
    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
    Summary
    This locus represents naturally occurring read-through transcription between the neighboring putative uncharacterized protein C8orf44 (GeneID 56260) and serine/threonine-protein kinase Sgk3 (GeneID 23678) genes on chromosome 8. The read-through transcript produces a protein that shares sequence identity with the downstream gene product. [provided by RefSeq, Feb 2011]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.3), kidney (RPKM 5.8) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See C8orf44-SGK3 in Genome Data Viewer
    Location:
    8q13.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66667596..66862022)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67093351..67288509)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (67579831..67774257)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27485 Neighboring gene uncharacterized LOC105375884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27488 Neighboring gene valosin containing protein interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27490 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27491 Neighboring gene chromosome 8 putative open reading frame 44 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19255 Neighboring gene serum/glucocorticoid regulated kinase family member 3 Neighboring gene NANOG hESC enhancer GRCh37_chr8:67666223-67666757 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:67687144-67687644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:67690173-67690674 Neighboring gene pituitary tumor-transforming 3, pseudogene Neighboring gene MPRA-validated peak7059 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27492 Neighboring gene minichromosome maintenance domain containing 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:67837556-67838755 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:67852931-67853432 Neighboring gene small nucleolar RNA, C/D box 87 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:67867090-67867662 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19259 Neighboring gene small nucleolar RNA host gene 6 Neighboring gene transcription factor 24

    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. Phosphoproteomics reveals that the hVPS34 regulated SGK3 kinase specifically phosphorylates endosomal proteins including Syntaxin-7, Syntaxin-12, RFIP4 and WDR44. Malik N, et al. Biochem J, 2019 Oct 30. PMID 31665227, Free PMC Article
    2. Role of the Phox homology domain and phosphorylation in activation of serum and glucocorticoid-regulated kinase-3. Tessier M, et al. J Biol Chem, 2006 Aug 18. PMID 16790420
    3. Patterns of somatic mutation in human cancer genomes. Greenman C, et al. Nature, 2007 Mar 8. PMID 17344846, Free PMC Article
    4. Cloning and mapping of a novel human serum/glucocorticoid regulated kinase-like gene, SGKL, to chromosome 8q12.3-q13.1. Dai F, et al. Genomics, 1999 Nov 15. PMID 10585774
    5. Second AKT: the rise of SGK in cancer signalling. Bruhn MA, et al. Growth Factors, 2010 Dec. PMID 20919962

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. These results reveal novel substrates for SGK3 and suggest a mechanism by which STX7 and STX12 SNARE complexes are regulated by SGK3. They reveal new biomarkers for monitoring SGK3 pathway activity.
      Title: Phosphoproteomics reveals that the hVPS34 regulated SGK3 kinase specifically phosphorylates endosomal proteins including Syntaxin-7, Syntaxin-12, RFIP4 and WDR44.
    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

    Variation

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    See Variation Viewer (GRCh37.p13)

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp779G0825

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium channel regulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables chloride channel regulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables histone H2AS1 kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables potassium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables potassium channel regulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein serine/threonine kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables sodium channel regulator activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chromatin remodeling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of DNA-binding transcription factor activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell growth TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell migration TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell population proliferation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in early endosome IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in recycling endosome IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    serine/threonine-protein kinase Sgk3
    Names
    cytokine-independent survival kinase
    serum/glucocorticoid-regulated kinase 3
    NP_001191102.1

    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.

    mRNA and Protein(s)

    1. NM_001204173.2 → NP_001191102.1  serine/threonine-protein kinase Sgk3

      See identical proteins and their annotated locations for NP_001191102.1

      Status: VALIDATED

      Source sequence(s)
      AC011031, AC090154, BX649057
      UniProtKB/Swiss-Prot
      A8K5W3, B3KQC2, Q96BR1, Q9P1Q7, Q9UKG5
      UniProtKB/TrEMBL
      Q53EW6, Q5H9Q5
      Related
      ENSP00000429022.1, ENST00000519289.1
      Conserved Domains (2) summary
      cd06870
      Location:12 → 120
      PX_CISK; The phosphoinositide binding Phox Homology Domain of Cytokine-Independent Survival Kinase
      cd05604
      Location:165 → 490
      STKc_SGK3; Catalytic domain of the Protein Serine/Threonine Kinase, Serum- and Glucocorticoid-induced Kinase 3

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      66667596..66862022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      67093351..67288509
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96BR1.1 GenPept UniProtKB/Swiss-Prot:Q96BR1

    Gene LinkOut

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

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