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Aliases for LAX1 Gene

Aliases for LAX1 Gene

  • Lymphocyte Transmembrane Adaptor 1 2 3 5
  • Linker For Activation Of X Cells 2 3 4
  • Membrane-Associated Adapter Protein LAX 3 4
  • LAT-Like Membrane Associated Protein 2 3
  • LAX 3 4
  • Lymphocyte Transmembrane Adapter 1 3

External Ids for LAX1 Gene

Previous GeneCards Identifiers for LAX1 Gene

  • GC01P200467
  • GC01P202000
  • GC01P203734
  • GC01P174899

Summaries for LAX1 Gene

GeneCards Summary for LAX1 Gene

LAX1 (Lymphocyte Transmembrane Adaptor 1) is a Protein Coding gene. Diseases associated with LAX1 include Spastic Ectropion and Mixed Cerebral Palsy. GO annotations related to this gene include protein kinase binding and SH2 domain binding.

UniProtKB/Swiss-Prot for LAX1 Gene

  • Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and BCR (B-cell antigen receptor)-mediated signaling in B-cells.

Additional gene information for LAX1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LAX1 Gene

Genomics for LAX1 Gene

Regulatory Elements for LAX1 Gene

Enhancers for LAX1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H203763 1.6 FANTOM5 Ensembl ENCODE dbSUPER 54 -0.1 -98 3 ATF1 TBL1XR1 SIN3A RELA EGR1 POLR2A SCRT2 ETV6 RUNX3 IKZF2 LAX1 SOX13 BTG2 LOC102723543
GH01H204100 1.9 FANTOM5 Ensembl ENCODE dbSUPER 18.7 +338.5 338508 5 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 BRCA1 ZBTB7B YY1 TCF12 SOX13 LAX1 ERLNC1 ETNK2 KRT8P29 CNTN2 SNRPE PPP1R15B ENSG00000261065
GH01H203754 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.2 -8.2 -8187 5 HDAC1 ATF1 YBX1 GATA2 POLR3A ZNF366 FOS ATF7 ETV6 RUNX3 SOX13 SNRPE ZC3H11A LAX1 ZBED6 MDM4 LOC102723543
GH01H203793 1.1 ENCODE 16.6 +31.0 30962 4 HDGF PKNOX1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 LAX1 SNORA77 SNRPE ZC3H11A GC01P203800 ZBED6
GH01H203680 1.6 Ensembl ENCODE dbSUPER 10.6 -82.8 -82808 3 HDGF PKNOX1 FOXA2 ARNT ARID4B ZNF302 ZNF143 ZHX2 MXD4 NFYC ZC3H11A ATP2B4 OPTC SNORA77 LAX1 RNU6-487P LOC100421749 PIR31474
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LAX1 on UCSC Golden Path with GeneCards custom track

Genomic Location for LAX1 Gene

Chromosome:
1
Start:
203,765,146 bp from pter
End:
203,776,372 bp from pter
Size:
11,227 bases
Orientation:
Plus strand

Genomic View for LAX1 Gene

Genes around LAX1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LAX1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LAX1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LAX1 Gene

Proteins for LAX1 Gene

  • Protein details for LAX1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWV1-LAX1_HUMAN
    Recommended name:
    Lymphocyte transmembrane adapter 1
    Protein Accession:
    Q8IWV1
    Secondary Accessions:
    • B7Z744
    • J3KP69
    • Q6NSZ6
    • Q9NXB4

    Protein attributes for LAX1 Gene

    Size:
    398 amino acids
    Molecular mass:
    44085 Da
    Quaternary structure:
    • When phosphorylated, interacts with GRB2, PIK3R1 and GRAP2.
    SequenceCaution:
    • Sequence=AAH69650.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for LAX1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LAX1 Gene

Post-translational modifications for LAX1 Gene

  • Phosphorylated on tyrosines by Syk, Lck or ZAP70 upon TCR or BCR activation; which leads to the recruitment of GRB2, PIK3R1 and GRAP2.
  • Ubiquitination at isoforms=2, 390
  • Modification sites at PhosphoSitePlus

Other Protein References for LAX1 Gene

No data available for DME Specific Peptides for LAX1 Gene

Domains & Families for LAX1 Gene

Gene Families for LAX1 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LAX1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LAX1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LAX1: view

No data available for UniProtKB/Swiss-Prot for LAX1 Gene

Function for LAX1 Gene

Molecular function for LAX1 Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates TCR (T-cell antigen receptor)-mediated signaling in T-cells and BCR (B-cell antigen receptor)-mediated signaling in B-cells.
UniProtKB/Swiss-Prot Induction:
Up-regulated in T-cells following TCR engagement.

Phenotypes From GWAS Catalog for LAX1 Gene

Gene Ontology (GO) - Molecular Function for LAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12359715
GO:0019901 protein kinase binding IDA 12359715
GO:0042169 SH2 domain binding IDA 12359715
genes like me logo Genes that share ontologies with LAX1: view
genes like me logo Genes that share phenotypes with LAX1: view

Animal Models for LAX1 Gene

MGI Knock Outs for LAX1:

Animal Model Products

CRISPR Products

miRNA for LAX1 Gene

miRTarBase miRNAs that target LAX1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LAX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LAX1 Gene

Localization for LAX1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LAX1 Gene

Cell membrane; Single-pass type III membrane protein.

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 LAX1 gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 5
extracellular 2
nucleus 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Golgi apparatus (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,IEA --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IDA 12359715
genes like me logo Genes that share ontologies with LAX1: view

Pathways & Interactions for LAX1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LAX1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000188 inactivation of MAPK activity IMP 12359715
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0006955 immune response IDA 12359715
GO:0035556 intracellular signal transduction IDA 12359715
genes like me logo Genes that share ontologies with LAX1: view

No data available for Pathways by source and SIGNOR curated interactions for LAX1 Gene

Drugs & Compounds for LAX1 Gene

No Compound Related Data Available

Transcripts for LAX1 Gene

mRNA/cDNA for LAX1 Gene

Unigene Clusters for LAX1 Gene

Lymphocyte transmembrane adaptor 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for LAX1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for LAX1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1: -
SP2:
SP3: - -

Relevant External Links for LAX1 Gene

GeneLoc Exon Structure for
LAX1
ECgene alternative splicing isoforms for
LAX1

Expression for LAX1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LAX1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LAX1 Gene

This gene is overexpressed in Spleen (x7.4), Whole Blood (x6.9), and Small Intestine - Terminal Ileum (x4.3).

Protein differential expression in normal tissues from HIPED for LAX1 Gene

This gene is overexpressed in CD8 Tcells (36.6), Blymphocyte (21.0), and CD4 Tcells (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for LAX1 Gene



Protein tissue co-expression partners for LAX1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LAX1 Gene:

LAX1

SOURCE GeneReport for Unigene cluster for LAX1 Gene:

Hs.272794

mRNA Expression by UniProt/SwissProt for LAX1 Gene:

Q8IWV1-LAX1_HUMAN
Tissue specificity: Expressed in spleen, thymus, and peripheral blood leukocytes. Expressed in several B-, T-, NK and monocyte cell lines.

Evidence on tissue expression from TISSUES for LAX1 Gene

  • Skin(2.3)
  • Bone(2.2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with LAX1: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LAX1 Gene

Orthologs for LAX1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for LAX1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LAX1 33 34
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia LAX1 33 34
  • 76.69 (n)
cow
(Bos Taurus)
Mammalia LAX1 33 34
  • 76.27 (n)
rat
(Rattus norvegicus)
Mammalia Lax1 33
  • 71.64 (n)
mouse
(Mus musculus)
Mammalia Lax1 33 16 34
  • 71.56 (n)
oppossum
(Monodelphis domestica)
Mammalia LAX1 34
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LAX1 34
  • 38 (a)
OneToOne
Species where no ortholog for LAX1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for LAX1 Gene

ENSEMBL:
Gene Tree for LAX1 (if available)
TreeFam:
Gene Tree for LAX1 (if available)

Paralogs for LAX1 Gene

No data available for Paralogs for LAX1 Gene

Variants for LAX1 Gene

Sequence variations from dbSNP and Humsavar for LAX1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000194936 -- 203,769,300(+) GGCAG(A/G)AGAAT intron-variant, upstream-variant-2KB
rs1000213141 -- 203,763,271(+) CCTGA(C/T)CAACA upstream-variant-2KB
rs1000288301 -- 203,763,440(+) GGCAA(C/T)AAGAG upstream-variant-2KB
rs1000338940 -- 203,763,776(+) TCTAA(C/G)TGCAG upstream-variant-2KB
rs1000452528 -- 203,769,477(+) TTGTA(A/T)AAATA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for LAX1 Gene

Variant ID Type Subtype PubMed ID
nsv467994 CNV loss 19166990
nsv549007 CNV loss 21841781

Variation tolerance for LAX1 Gene

Residual Variation Intolerance Score: 92.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LAX1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LAX1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LAX1 Gene

Disorders for LAX1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for LAX1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spastic ectropion
mixed cerebral palsy
  • cerebral palsy, mixed
barber-say syndrome
  • barber say syndrome
cicatricial ectropion
tinea cruris
  • dermatophytosis of groin and perianal area
- elite association - COSMIC cancer census association via MalaCards
Search LAX1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for LAX1

Genetic Association Database (GAD)
LAX1
Human Genome Epidemiology (HuGE) Navigator
LAX1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LAX1
genes like me logo Genes that share disorders with LAX1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LAX1 Gene

Publications for LAX1 Gene

  1. Molecular cloning of a novel gene encoding a membrane-associated adaptor protein (LAX) in lymphocyte signaling. (PMID: 12359715) Zhu M … Zhang W (The Journal of biological chemistry 2002) 2 3 4 22 60
  2. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 45 60
  3. Negative regulation of lymphocyte activation by the adaptor protein LAX. (PMID: 15843560) Zhu M … Zhang W (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for LAX1 Gene

Sources for LAX1 Gene

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