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] See more...

Aliases for LUZP1 Gene

Aliases for LUZP1 Gene

  • Leucine Zipper Protein 1 2 3 4 5
  • LUZP 2 3
  • LUZP1 5

External Ids for LUZP1 Gene

Previous GeneCards Identifiers for LUZP1 Gene

  • GC01M022986
  • GC01M022448
  • GC01M022561
  • GC01M022883
  • GC01M022884
  • GC01M023159
  • GC01M023283
  • GC01M023410
  • GC01M021655

Summaries for LUZP1 Gene

Entrez Gene Summary for LUZP1 Gene

  • 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]

GeneCards Summary for LUZP1 Gene

LUZP1 (Leucine Zipper Protein 1) is a Protein Coding gene. Diseases associated with LUZP1 include Chromosome 1P36 Deletion Syndrome and Wernicke-Korsakoff Syndrome. An important paralog of this gene is FILIP1.

Additional gene information for LUZP1 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LUZP1 Gene

Genomics for LUZP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LUZP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J023166 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 613.1 +9.5 9508 4.6 RNF2 SP1 CREB1 GATAD2A ATF7 TEAD4 PRDM10 ZNF629 IKZF1 KDM1A LUZP1 SRSF10 ZBTB40 PNRC2 RPL11 LINC01355 HNRNPR ELOA LACTBL1 RF00026-014
GH01J023176 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 613.4 -0.1 -100 2 PRDM10 ZNF629 ZNF692 BACH1 LARP7 MTA2 ZIC2 PKNOX1 ZNF24 PATZ1 LUZP1 LACTBL1 lnc-LUZP1-2 HTR1D
GH01J023179 Enhancer 0.8 ENCODE dbSUPER 600.7 -1.4 -1375 0.2 FOXA1 PKNOX1 CTCF ZNF341 CBX3 RUNX3 FOXK2 FOXA2 CUX1 RAD21 LUZP1 lnc-LUZP1-2 HTR1D
GH01J023098 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 24.5 +76.0 75969 6.8 CTCF ATF7 PRDM10 ZNF629 LEF1 ZNF692 JUND FOXA1 DDX20 PRDM1 lnc-KDM1A-4 LUZP1 LINC01355 SRSF10 HNRNPR RNU6-135P RNU6-514P LACTBL1 ENSG00000240553 KDM1A
GH01J023187 Enhancer 1.3 Ensembl ENCODE dbSUPER 12.8 -11.1 -11135 3.2 GATAD2A PRDM10 TFE3 NFKBIZ RCOR2 JUND GABPA ZIC2 RXRB IRF2 LACTBL1 LUZP1 RNU6-135P RNU6-514P HTR1D piR-42491-003
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LUZP1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LUZP1

Top Transcription factor binding sites by QIAGEN in the LUZP1 gene promoter:
  • AREB6
  • Brachyury
  • GCNF
  • GCNF-1
  • GCNF-2
  • HSF1 (long)
  • HSF1short
  • Lhx3a
  • LHX3b
  • Pax-5

Genomic Locations for LUZP1 Gene

Genomic Locations for LUZP1 Gene
chr1:23,084,023-23,177,808
(GRCh38/hg38)
Size:
93,786 bases
Orientation:
Minus strand
chr1:23,410,516-23,504,301
(GRCh37/hg19)
Size:
93,786 bases
Orientation:
Minus strand

Genomic View for LUZP1 Gene

Genes around LUZP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LUZP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LUZP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LUZP1 Gene

Proteins for LUZP1 Gene

  • Protein details for LUZP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86V48-LUZP1_HUMAN
    Recommended name:
    Leucine zipper protein 1
    Protein Accession:
    Q86V48
    Secondary Accessions:
    • Q5TH93
    • Q8N4X3
    • Q8TEH1

    Protein attributes for LUZP1 Gene

    Size:
    1076 amino acids
    Molecular mass:
    120275 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH33219.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LUZP1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LUZP1 Gene

Post-translational modifications for LUZP1 Gene

  • Ubiquitination at Lys942
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LUZP1 Gene

Domains & Families for LUZP1 Gene

Gene Families for LUZP1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LUZP1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LUZP1 Gene

GenScript: Design optimal peptide antigens:
  • Leucine zipper protein 1 (LUZP1_HUMAN)
  • LUZP1 protein (Q05DE3_HUMAN)
  • Leucine zipper protein 1 (Q5TH92_HUMAN)
genes like me logo Genes that share domains with LUZP1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for LUZP1 Gene

Function for LUZP1 Gene

Phenotypes From GWAS Catalog for LUZP1 Gene

genes like me logo Genes that share phenotypes with LUZP1: view

Animal Models for LUZP1 Gene

MGI Knock Outs for LUZP1:

Animal Model Products

CRISPR Products

miRNA for LUZP1 Gene

miRTarBase miRNAs that target LUZP1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LUZP1

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LUZP1 Gene

Localization for LUZP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LUZP1 Gene

Nucleus. Note=Also detected in soma and dendrites of neurons. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LUZP1 gene
Compartment Confidence
nucleus 5
extracellular 4
cytoskeleton 3
cytosol 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (1)
  • Cytosol (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LUZP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane HDA 19946888
GO:0070062 extracellular exosome HDA 18570454
genes like me logo Genes that share ontologies with LUZP1: view

Pathways & Interactions for LUZP1 Gene

PathCards logo

SuperPathways for LUZP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LUZP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003281 ventricular septum development IEA --
GO:0021503 neural fold bending IBA 21873635
GO:0060840 artery development IEA --
genes like me logo Genes that share ontologies with LUZP1: view

No data available for Pathways by source and SIGNOR curated interactions for LUZP1 Gene

Drugs & Compounds for LUZP1 Gene

No Compound Related Data Available

Transcripts for LUZP1 Gene

mRNA/cDNA for LUZP1 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LUZP1

Alternative Splicing Database (ASD) splice patterns (SP) for LUZP1 Gene

No ASD Table

Relevant External Links for LUZP1 Gene

GeneLoc Exon Structure for
LUZP1

Expression for LUZP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LUZP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LUZP1 Gene

This gene is overexpressed in Nasal epithelium (27.6), Adrenal (14.8), and Bone marrow mesenchymal stem cell (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LUZP1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LUZP1

SOURCE GeneReport for Unigene cluster for LUZP1 Gene:

Hs.257900

Evidence on tissue expression from TISSUES for LUZP1 Gene

  • Spleen(4.2)
  • Pancreas(4.2)
  • Liver(4.1)
  • Nervous system(3)
genes like me logo Genes that share expression patterns with LUZP1: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LUZP1 Gene

Orthologs for LUZP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LUZP1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LUZP1 30 31
  • 99.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LUZP1 30 31
  • 88.54 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LUZP1 30 31
  • 85.92 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Luzp1 30 17 31
  • 84 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Luzp1 30
  • 83.61 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia LUZP1 31
  • 75 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LUZP1 31
  • 67 (a)
OneToOne
Chicken
(Gallus gallus)
Aves LUZP1 30 31
  • 61.82 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LUZP1 31
  • 51 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LUZP1 31
  • 37 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG10915 31
  • 5 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C49H3.6 31
  • 6 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 11 (a)
OneToMany
Species where no ortholog for LUZP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for LUZP1 Gene

ENSEMBL:
Gene Tree for LUZP1 (if available)
TreeFam:
Gene Tree for LUZP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LUZP1: view image

Paralogs for LUZP1 Gene

Paralogs for LUZP1 Gene

(1) SIMAP similar genes for LUZP1 Gene using alignment to 4 proteins:

  • LUZP1_HUMAN
  • E5RFK8_HUMAN
  • E5RHU7_HUMAN
  • Q05DE3_HUMAN
genes like me logo Genes that share paralogs with LUZP1: view

Variants for LUZP1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LUZP1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
720859 Benign: not provided 23,092,083(-) T/C MISSENSE_VARIANT
720860 Benign: not provided 23,093,788(-) G/C SYNONYMOUS_VARIANT
770680 Benign: not provided 23,092,310(-) G/C MISSENSE_VARIANT
rs10799790 - p.Asp868Asn
rs12066671 - p.Ser1034Asn

Additional dbSNP identifiers (rs#s) for LUZP1 Gene

Structural Variations from Database of Genomic Variants (DGV) for LUZP1 Gene

Variant ID Type Subtype PubMed ID
esv2657917 CNV deletion 23128226
esv2745275 CNV deletion 23290073
esv3585476 CNV loss 21293372
esv3585477 CNV loss 21293372
esv3585478 CNV loss 21293372
nsv1075737 CNV deletion 25765185
nsv1118107 CNV deletion 24896259
nsv1136069 CNV deletion 24896259
nsv6520 CNV insertion 18451855
nsv819728 CNV loss 19587683
nsv821976 CNV gain 20364138
nsv834424 CNV loss 17160897

Variation tolerance for LUZP1 Gene

Residual Variation Intolerance Score: 41.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.81; 73.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LUZP1 Gene

Human Gene Mutation Database (HGMD)
LUZP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LUZP1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LUZP1 Gene

Disorders for LUZP1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LUZP1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 1p36 deletion syndrome
  • monosomy 1p36 syndrome
wernicke-korsakoff syndrome
  • transketolase defect
thiamine deficiency disease
townes-brocks syndrome
  • renal-ear-anal-radial syndrome
left ventricular noncompaction
  • left ventricular hypertrabeculation
- elite association - COSMIC cancer census association via MalaCards
Search LUZP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LUZP1

genes like me logo Genes that share disorders with LUZP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LUZP1 Gene

Publications for LUZP1 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Characterization of long cDNA clones from human adult spleen. II. The complete sequences of 81 cDNA clones. (PMID: 12693554) Jikuya H … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2003) 3 4
  5. Identification, molecular characterization, and chromosomal localization of the cDNA encoding a novel leucine zipper motif-containing protein. (PMID: 8812416) Sun DS … Chang NC (Genomics 1996) 2 3

Products for LUZP1 Gene

Sources for LUZP1 Gene