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

Gene ID: 7798, updated on 2-Nov-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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See LUZP1 in Genome Data Viewer
Location:
1p36.12
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23083642..23178122, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (22909316..23003819, complement)
RS_2024_09 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 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 regulates the maturation of contractile actomyosin bundles. Wang L, et al. Cell Mol Life Sci, 2024 Jun 4. PMID 38832964, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. 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

See all (101) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. LUZP1 regulates the maturation of contractile actomyosin bundles.
    Title: LUZP1 regulates the maturation of contractile actomyosin bundles.
  2. 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.
  3. 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.
  4. 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 protein localization to actin cytoskeleton 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
is_active_in actin cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
  
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
    Related
    ENSP00000516586.2, ENST00000706844.2
    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
    Related
    ENSP00000428061.2, ENST00000471849.6
    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_2024_08

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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