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    LZTR1 leucine zipper like transcription regulator 1 [ Homo sapiens (human) ]

    Gene ID: 8216, updated on 5-Jul-2021

    Summary

    Official Symbol
    LZTR1provided by HGNC
    Official Full Name
    leucine zipper like transcription regulator 1provided by HGNC
    Primary source
    HGNC:HGNC:6742
    See related
    Ensembl:ENSG00000099949 MIM:600574
    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
    NS2; NS10; BTBD29; LZTR-1; SWNTS2
    Summary
    This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in spleen (RPKM 12.6), ovary (RPKM 12.5) and 25 other tissues See more
    Orthologs
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    Genomic context

    See LZTR1 in Genome Data Viewer
    Location:
    22q11.21; 22q11.1-q11.2
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (20982297..20999032)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (21336586..21353321)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1637 Neighboring gene apoptosis inducing factor mitochondria associated 3 Neighboring gene Sharpr-MPRA regulatory region 818 Neighboring gene THAP7 antisense RNA 1 Neighboring gene THAP domain containing 7 Neighboring gene tubulin alpha 3f pseudogene Neighboring gene purinergic receptor P2X 6

    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?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: AIFM3

    Homology

    Clone Names

    • MGC21205

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of Ras protein signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of Cul3-RING ubiquitin ligase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endomembrane system IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in recycling endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    leucine-zipper-like transcriptional regulator 1
    Names
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_034193.1 RefSeqGene

      Range
      5029..21764
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_989

    mRNA and Protein(s)

    1. NM_006767.4NP_006758.2  leucine-zipper-like transcriptional regulator 1

      See identical proteins and their annotated locations for NP_006758.2

      Status: REVIEWED

      Source sequence(s)
      BC026214, CT841521, DA194822
      Consensus CDS
      CCDS33606.1
      UniProtKB/Swiss-Prot
      Q8N653
      Related
      ENSP00000496779.1, ENST00000646124.2
      Conserved Domains (5) summary
      cd14821
      Location:574634
      SPOP_C_like; BACK-like Domain C-terminal to BTB in speckle-type POZ protein (SPOP) and similar proteins
      sd00038
      Location:68114
      Kelch; KELCH repeat [structural motif]
      pfam00651
      Location:665753
      BTB; BTB/POZ domain
      cl02518
      Location:433573
      BTB; BTB/POZ domain
      cl26061
      Location:160407
      PLN02193; nitrile-specifier protein

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

      Range
      20982297..20999032
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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