TXK TXK tyrosine kinase [Homo sapiens (human)] - Gene

Summary

Official Symbol: TXKprovided by HGNC
Official Full Name: TXK tyrosine kinaseprovided by HGNC
Primary source: HGNC:HGNC:12434
See related: Ensembl:ENSG00000074966 MIM:600058; AllianceGenome:HGNC:12434
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: RLK; TKL; BTKL; PTK4; PSCTK5
Summary: Predicted to enable non-membrane spanning protein tyrosine kinase activity. Involved in positive regulation of macromolecule biosynthetic process; positive regulation of type II interferon-mediated signaling pathway; and protein autophosphorylation. Located in cytosol; nuclear lumen; and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in lymph node (RPKM 5.7), spleen (RPKM 3.3) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p12

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (48066393..48134250, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (48033459..48101082, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (48068410..48136267, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Characterization, evolution, and abiotic stress responses of leucine-rich repeat receptor-like protein kinases (LRR-RLK) in Liriodendron chinense.
Title: Characterization, evolution, and abiotic stress responses of leucine-rich repeat receptor-like protein kinases (LRR-RLK) in Liriodendron chinense.
These data indicate that PRN694 is a highly selective and potent covalent inhibitor of ITK and RLK, and its extended target residence time enables durable attenuation of effector cells in vitro and in vivo.
Title: Targeting interleukin-2-inducible T-cell kinase (ITK) and resting lymphocyte kinase (RLK) using a novel covalent inhibitor PRN694.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Itk and Txk exert their effects on T helper (Th) cell differentiation and function at the level of expression; transgenic Txk is not a specific regulator of Th1 responses.
Title: Selective expression rather than specific function of Txk and Itk regulate Th1 and Th2 responses.
Th1 cells expressing Txk and Th1-associated cytokines may play a critical role in the development of skin and intestinal lesions in patients with Behcet's disease.
Title: Skewed Th1 responses caused by excessive expression of Txk, a member of the Tec family of tyrosine kinases, in patients with Behcet's disease.
fuctions as a Th1 cell-specific transcription factor and regulates IFN-gamma gene transcription
Title: Txk, a member of nonreceptor tyrosine kinase of Tec family, acts as a Th1 cell-specific transcription factor and regulates IFN-gamma gene transcription.

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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

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G20621 (e-PCR)
- UniSTS:37681

A005Z18 (e-PCR)
- UniSTS:37682

D4S3133 (e-PCR)
- UniSTS:2628

RH70607 (e-PCR)
- UniSTS:34141

SHGC-59740 (e-PCR)
- UniSTS:14949

D11S3316 (e-PCR)
- UniSTS:152558

D2S2579 (e-PCR)
- UniSTS:498

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables histone H2AXY142 kinase activity	IEA Inferred from Electronic Annotation more info
enables histone H3Y41 kinase activity	IEA Inferred from Electronic Annotation more info
enables non-membrane spanning protein tyrosine kinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in T cell receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in T cell receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in adaptive immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in adaptive immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cytokine production	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type II interferon production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type II interferon-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	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: tyrosine-protein kinase TXK

Names: PTK4 protein tyrosine kinase 4; protein-tyrosine kinase 4; resting lymphocyte kinase

NP_003319.2

EC 2.7.10.2

XP_011512049.1

EC 2.7.10.2

XP_011512050.1

EC 2.7.10.2

XP_016864070.1

EC 2.7.10.2

XP_024309968.1

EC 2.7.10.2

XP_047272078.1

EC 2.7.10.2

XP_047272079.1

EC 2.7.10.2

XP_047272081.1

EC 2.7.10.2

XP_054206748.1

EC 2.7.10.2

XP_054206749.1

EC 2.7.10.2

XP_054206750.1

EC 2.7.10.2

XP_054206751.1

EC 2.7.10.2

XP_054206752.1

EC 2.7.10.2

XP_054206753.1

EC 2.7.10.2

XP_054206754.1

EC 2.7.10.2

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_003328.3 → NP_003319.2 tyrosine-protein kinase TXK

See identical proteins and their annotated locations for NP_003319.2

Status: VALIDATED

Source sequence(s)

AC096749, DB103575, L27071

Consensus CDS

CCDS3480.1

UniProtKB/Swiss-Prot

P42681, Q14220

UniProtKB/TrEMBL

E7EQN8

Related

ENSP00000264316.4, ENST00000264316.9

Conserved Domains (3) summary

cd05059
Location:266 → 521

PTKc_Tec_like; Catalytic domain of Tec-like Protein Tyrosine Kinases

cd10398
Location:143 → 248

SH2_Tec_Txk; Src homology 2 (SH2) domain found in Tec protein, Txk

cd11907
Location:85 → 139

SH3_TXK; Src Homology 3 domain of TXK, also called Resting lymphocyte kinase (Rlk)

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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

48066393..48134250 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017008581.3 → XP_016864070.1 tyrosine-protein kinase TXK isoform X3

UniProtKB/TrEMBL

E7EQN8
XM_011513747.4 → XP_011512049.1 tyrosine-protein kinase TXK isoform X2

UniProtKB/TrEMBL

E7EQN8

Conserved Domains (4) summary

cd05059
Location:247 → 502

PTKc_Tec_like; Catalytic domain of Tec-like Protein Tyrosine Kinases

cd10398
Location:131 → 229

SH2_Tec_Txk; Src homology 2 (SH2) domain found in Tec protein, Txk

pfam07714
Location:252 → 499

Pkinase_Tyr; Protein tyrosine kinase

cl17036
Location:88 → 130

SH3; Src Homology 3 domain superfamily
XM_024454200.2 → XP_024309968.1 tyrosine-protein kinase TXK isoform X1

UniProtKB/TrEMBL

E7EQN8

Conserved Domains (3) summary

cd05059
Location:269 → 524

PTKc_Tec_like; Catalytic domain of Tec-like Protein Tyrosine Kinases

cd10398
Location:146 → 251

SH2_Tec_Txk; Src homology 2 (SH2) domain found in Tec protein, Txk

cd11907
Location:88 → 142

SH3_TXK; Src Homology 3 domain of TXK, also called Resting lymphocyte kinase (Rlk)
XM_047416123.1 → XP_047272079.1 tyrosine-protein kinase TXK isoform X5
XM_011513748.4 → XP_011512050.1 tyrosine-protein kinase TXK isoform X6

Conserved Domains (2) summary

pfam07714
Location:33 → 280

Pkinase_Tyr; Protein tyrosine kinase

cl21453
Location:28 → 287

PKc_like; Protein Kinases, catalytic domain
XM_047416122.1 → XP_047272078.1 tyrosine-protein kinase TXK isoform X4
XM_047416125.1 → XP_047272081.1 tyrosine-protein kinase TXK isoform X7