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

Gene ID: 100533105, updated on 8-Mar-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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Location:
8q13.1
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (66667596..66862022)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (67093351..67288509)
105.20220307 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
  • 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 variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 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 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 peptidyl-serine phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in protein phosphorylation TAS
Traceable Author Statement
more info
 PubMed 
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_2023_10

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

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