LAX1 lymphocyte transmembrane adaptor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LAX1provided by HGNC
Official Full Name: lymphocyte transmembrane adaptor 1provided by HGNC
Primary source: HGNC:HGNC:26005
See related: Ensembl:ENSG00000122188 MIM:619622; AllianceGenome:HGNC:26005
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: LAX
Summary: Enables SH2 domain binding activity and protein kinase binding activity. Involved in several processes, including B cell activation; negative regulation of MAPK cascade; and negative regulation of T cell activation. Located in Golgi apparatus; cytosol; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in lymph node (RPKM 6.4), appendix (RPKM 5.1) and 13 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (203765183..203776372)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (203028377..203039551)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203734311..203745500)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TRIM required LAX for binding to Rab8 in a complex, a novel CTLA-4/TRIM/LAX/Rab8 effector complex in the transport of CTLA-4 to the surfaces of T cells
Title: Rab8 binding to immune cell-specific adaptor LAX facilitates formation of trans-Golgi network-proximal CTLA-4 vesicles for surface expression.
We identified the transmembrane domain of LAX as a first motif targeting transmembrane protein constructs to detergent-resistant heavy rafts, a novel type of membrane microdomains containing a number of physiologically important proteins.
Title: The transmembrane region is responsible for targeting of adaptor protein LAX into "heavy rafts".
Observational study of gene-disease association. (HuGE Navigator)
Title: Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
inhibition of signaling events involved in T cell activation by LAX occurs through mechanisms both dependent on and independent of its tyrosine phosphorylation.
Title: Negative regulation of TCR signaling by linker for activation of X cells via phosphotyrosine-dependent and -independent mechanisms.
functions to negatively regulate signaling in lymphocytes
Title: Molecular cloning of a novel gene encoding a membrane-associated adaptor protein (LAX) in lymphocyte signaling.
Overexpression of LAX in Jurkat cells specifically inhibits T cell receptor-mediated p38 MAPK activation and NFAT/AP-1 transcriptional activation.
Title: Molecular cloning of a novel gene encoding a membrane-associated adaptor protein (LAX) in lymphocyte signaling.

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of LAX1	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481846

SHGC-85748 (e-PCR)
- UniSTS:103777

NoName (e-PCR)
- UniSTS:486760

D1S2087 (e-PCR)
- UniSTS:68974

L17971 (e-PCR)
- UniSTS:43966

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH2 domain binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in B cell activation	IDA Inferred from Direct Assay more info	PubMed
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in antigen receptor-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in lymphocyte activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T cell activation	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of T cell activation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in membrane	HDA more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
NOT located_in membrane raft	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: lymphocyte transmembrane adapter 1

Names: LAT-like membrane associated protein; linker for activation of x cells; membrane-associated adapter protein LAX

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)

NM_001136190.2 → NP_001129662.1 lymphocyte transmembrane adapter 1 isoform b

See identical proteins and their annotated locations for NP_001129662.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (b) has a distinct N-terminus and is shorter than isoform a.

Source sequence(s)

AC114402, BC089408, DC414389

Consensus CDS

CCDS44297.1

UniProtKB/TrEMBL

B4DVH0

Related

ENSP00000356186.5, ENST00000367217.6

Conserved Domains (1) summary

pfam15681
Location:14 → 381

LAX; Lymphocyte activation family X
NM_001282878.1 → NP_001269807.1 lymphocyte transmembrane adapter 1 isoform c

See identical proteins and their annotated locations for NP_001269807.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and represents use of an alternate promoter and initiates translation at downstream start codon, compared to variant 1. It encodes isoform c, which has a shorter N-terminus compared to isoform a.

Source sequence(s)

AC114402, AK000347, BC089408

UniProtKB/TrEMBL

B4DVH0

Related

ENST00000367215.1

Conserved Domains (1) summary

pfam15681
Location:1 → 321

LAX; Lymphocyte activation family X
NM_017773.4 → NP_060243.2 lymphocyte transmembrane adapter 1 isoform a

See identical proteins and their annotated locations for NP_060243.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC114402, BC089408, DC414389

Consensus CDS

CCDS1441.2

UniProtKB/Swiss-Prot

B7Z744, J3KP69, Q6NSZ6, Q8IWV1, Q9NXB4

UniProtKB/TrEMBL

B4DVH0

Related

ENSP00000406970.2, ENST00000442561.7

Conserved Domains (1) summary

pfam15681
Location:29 → 397

LAX; Lymphocyte activation family X