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SZT2 SZT2 subunit of KICSTOR complex [ Homo sapiens (human) ]

Gene ID: 23334, updated on 20-Nov-2022

Summary

Official Symbol
SZT2provided by HGNC
Official Full Name
SZT2 subunit of KICSTOR complexprovided by HGNC
Primary source
HGNC:HGNC:29040
See related
Ensembl:ENSG00000198198 MIM:615463; AllianceGenome:HGNC:29040
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DEE18; KICS1; SZT2A; SZT2B; EIEE18; C1orf84; KIAA0467
Summary
The protein encoded by this gene is expressed in the brain, predominantly in the parietal and frontal cortex as well as in dorsal root ganglia. It is localized to the peroxisome, and is implicated in resistance to oxidative stress. It likely functions by increasing superoxide dismutase (SOD) activity, but itself has no direct SOD activity. Studies in mice show that this gene confers low seizure threshold, and may also enhance epileptogenesis. [provided by RefSeq, Jun 2011]
Expression
Ubiquitous expression in ovary (RPKM 6.6), testis (RPKM 6.5) and 25 other tissues See more
Orthologs
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Genomic context

See SZT2 in Genome Data Viewer
Location:
1p34.2
Exon count:
72
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43389899..43454247)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43260449..43324500)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (43855570..43919918)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268225 Neighboring gene MED8 antisense RNA 1 Neighboring gene mediator complex subunit 8 Neighboring gene SZT2 antisense RNA 1 Neighboring gene microRNA 6735 Neighboring gene HYI antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 4928 Neighboring gene hydroxypyruvate isomerase (putative) Neighboring gene protein tyrosine phosphatase receptor type F

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00408, FLJ10387, FLJ23425, FLJ34502, KIAA0467

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular response to amino acid starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cellular response to glucose starvation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in central nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in corpus callosum morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of TORC1 signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in pigmentation IEA
Inferred from Electronic Annotation
more info
 
involved_in post-embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein localization to lysosome IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of superoxide dismutase activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Component Evidence Code Pubs
part_of KICSTOR complex IC
Inferred by Curator
more info
PubMed 
part_of KICSTOR complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane IC
Inferred by Curator
more info
PubMed 
located_in lysosomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in lysosomal membrane TAS
Traceable Author Statement
more info
 
is_active_in peroxisome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in peroxisome ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 

General protein information

Preferred Names
KICSTOR complex protein SZT2
Names
SZT2 subunit KICSTOR complex
SZT2, KICSTOR complex subunit
seizure threshold 2 protein homolog

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_029091.1 RefSeqGene

    Range
    5015..69363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001365999.1NP_001352928.1  KICSTOR complex protein SZT2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL139289, AL583862
    Consensus CDS
    CCDS90935.1
    UniProtKB/Swiss-Prot
    Q9UFQ8
    Related
    ENSP00000489255.1, ENST00000634258.3
  2. NM_015284.4NP_056099.3  KICSTOR complex protein SZT2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AB007936, AK131107, AL139289, AL583862, BC051343, BF826848, BU633294, BX423490, DY655545
    Consensus CDS
    CCDS30694.2
    UniProtKB/Swiss-Prot
    Q5T011
    Related
    ENSP00000457168.1, ENST00000562955.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    43389899..43454247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    43260449..43324500
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001012960.1: Suppressed sequence

    Description
    NM_001012960.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001012961.1: Suppressed sequence

    Description
    NM_001012961.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
  3. NM_182518.2: Suppressed sequence

    Description
    NM_182518.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein, and it is a nonsense-mediated mRNA decay (NMD) candidate.