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    LUZP1 leucine zipper protein 1 [ Homo sapiens (human) ]

    Gene ID: 7798, updated on 5-Mar-2024

    Summary

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    Official Symbol
    LUZP1provided by HGNC
    Official Full Name
    leucine zipper protein 1provided by HGNC
    Primary source
    HGNC:HGNC:14985
    See related
    Ensembl:ENSG00000169641 MIM:601422; AllianceGenome:HGNC:14985
    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
    LUZP
    Summary
    This gene encodes a protein that contains a leucine zipper motif. The exact function of the encoded protein is not known. In mice this gene affects neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2008]
    Expression
    Ubiquitous expression in small intestine (RPKM 10.5), duodenum (RPKM 8.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p36.12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23083642..23178122, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (22909316..23003819, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (23410135..23504182, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:23336854-23338053 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:23345765-23346452 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:23346453-23347138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 356 Neighboring gene testis expressed 46 Neighboring gene lysine demethylase 1A Neighboring gene microRNA 3115 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:23459884-23460190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23466860-23467360 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:23467361-23467861 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:23494055-23494586 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:23494587-23495118 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 357 Neighboring gene RNA, U6 small nuclear 514, pseudogene Neighboring gene RNA, U6 small nuclear 135, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 408 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:23515051-23516250 Neighboring gene 5-hydroxytryptamine receptor 1D Neighboring gene MPRA-validated peak115 silencer Neighboring gene ribosomal protein L29 pseudogene 6

    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. LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome. Bozal-Basterra L, et al. Elife, 2020 Jun 18. PMID 32553112, Free PMC Article
    2. Upregulation of Leucine Zipper Protein mRNA in Hepatocellular Carcinoma Associated With Poor Prognosis. Li G, et al. Technol Cancer Res Treat, 2016 Jun. PMID 26031464
    3. LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation. Gonçalves J, et al. J Cell Biol, 2020 Jul 6. PMID 32496561, Free PMC Article
    4. Identification, molecular characterization, and chromosomal localization of the cDNA encoding a novel leucine zipper motif-containing protein. Sun DS, et al. Genomics, 1996 Aug 15. PMID 8812416
    5. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. Jikuya H, et al. DNA Res, 2003 Feb 28. PMID 12693554

    See all (89) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome.
      Title: LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome.
    2. LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation.
      Title: LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation.
    3. LUZP mRNA is a prognostic indicator in hepatocellular carcinoma
      Title: Upregulation of Leucine Zipper Protein mRNA in Hepatocellular Carcinoma Associated With Poor Prognosis.
    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35697, KIAA0601

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in artery development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in neural fold bending IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ventricular septum development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    leucine zipper protein 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_001142546.4 → NP_001136018.1  leucine zipper protein 1

      See identical proteins and their annotated locations for NP_001136018.1

      Status: REVIEWED

      Source sequence(s)
      AL031428, AL049576
      Consensus CDS
      CCDS30628.1
      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1
      Conserved Domains (1) summary
      COG0419
      Location:9 → 355
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    2. NM_001395461.1 → NP_001382390.1  leucine zipper protein 1

      Status: REVIEWED

      Source sequence(s)
      AL031428, AL049576
      Consensus CDS
      CCDS30628.1
      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1
      Conserved Domains (1) summary
      COG0419
      Location:9 → 355
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    3. NM_001395462.2 → NP_001382391.1  leucine zipper protein 1

      Status: REVIEWED

      Source sequence(s)
      AL031428, AL049576
      Consensus CDS
      CCDS30628.1
      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1
      Related
      ENSP00000303758.4, ENST00000302291.9
      Conserved Domains (1) summary
      COG0419
      Location:9 → 355
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    4. NM_033631.5 → NP_361013.3  leucine zipper protein 1

      See identical proteins and their annotated locations for NP_361013.3

      Status: REVIEWED

      Source sequence(s)
      AL031428, AL049576
      Consensus CDS
      CCDS30628.1
      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1
      Conserved Domains (1) summary
      COG0419
      Location:9 → 355
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      23083642..23178122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429992.1 → XP_047285948.1  leucine zipper protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1

    2. XM_047429993.1 → XP_047285949.1  leucine zipper protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1

    3. XM_047429989.1 → XP_047285945.1  leucine zipper protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1

    4. XM_011542090.4 → XP_011540392.1  leucine zipper protein 1 isoform X1

      See identical proteins and their annotated locations for XP_011540392.1

      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1
      Conserved Domains (1) summary
      COG0419
      Location:9 → 355
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

    5. XM_047429987.1 → XP_047285943.1  leucine zipper protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1

    6. XM_047429988.1 → XP_047285944.1  leucine zipper protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1

    7. XM_047429991.1 → XP_047285947.1  leucine zipper protein 1 isoform X1

      UniProtKB/Swiss-Prot
      Q5TH93, Q86V48, Q8N4X3, Q8TEH1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      22909316..23003819 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054338652.1 → XP_054194627.1  leucine zipper protein 1 isoform X1

    2. XM_054338651.1 → XP_054194626.1  leucine zipper protein 1 isoform X1

    3. XM_054338649.1 → XP_054194624.1  leucine zipper protein 1 isoform X1

    4. XM_054338646.1 → XP_054194621.1  leucine zipper protein 1 isoform X1

    5. XM_054338647.1 → XP_054194622.1  leucine zipper protein 1 isoform X1

    6. XM_054338648.1 → XP_054194623.1  leucine zipper protein 1 isoform X1

    7. XM_054338650.1 → XP_054194625.1  leucine zipper protein 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86V48.2 GenPept UniProtKB/Swiss-Prot:Q86V48

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