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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ANKRD54
ankyrin repeat domain 54
Chromosome 22 Β· 22q13.1
NCBI Gene: 129138Ensembl: ENSG00000100124.15HGNC: HGNC:25185UniProt: B5MCX7
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein kinase regulator activitypositive regulation of erythrocyte differentiationregulation of intracellular signal transductionopen-angle glaucomaHydrocephalushereditary sensory and autonomic neuropathyneoplasm
✦AI Summary

ANKRD54 (ankyrin repeat domain 54) is a nucleocytoplasmic shuttling protein that plays a critical role in regulating intracellular signaling, particularly in immune cell development and erythroid differentiation. Functionally, ANKRD54 acts as a selective modulator of Bruton's Tyrosine Kinase (BTK) nucleocytoplasmic trafficking through a specific SH3 domain-dependent interaction 1. Among human SH3 domain-containing proteins, BTK's SH3 domain is ANKRD54's prime interactor, demonstrating high specificity 2. ANKRD54 preferentially binds inactive, non-phosphorylated BTK and mediates its Crm1-dependent nuclear export, a function essential for regulating B-lymphocyte signaling 1. Beyond BTK, ANKRD54 also modulates nucleocytoplasmic shuttling of Txk/Rlk, another Tec family tyrosine kinase. Clinically, ANKRD54 expression is upregulated in elite controller-long term non-progressor (EC-LTNP) HIV-1 patients who spontaneously control viral replication, suggesting involvement in antiviral immune responses 3. The protein's role in regulating kinase subcellular localization has implications for understanding immune homeostasis and potential therapeutic targeting in immunodeficiency and infection contexts.

Sources cited
1
ANKRD54 mediates Crm1-dependent nuclear export of BTK and Txk through SH3-dependent interaction, specifically binding non-phosphorylated BTK
PMID: 22527282
2
BTK's SH3 domain is the prime interactor of ANKRD54 in a human SH3 domain phage-display library screening
PMID: 28369144
3
ANKRD54 is upregulated in elite controller-long term non-progressor HIV-1 patients compared to typical progressors
PMID: 31582776
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
open-angle glaucomaOpen Targets
0.09Suggestive
HydrocephalusOpen Targets
0.02Suggestive
hereditary sensory and autonomic neuropathyOpen Targets
0.02Suggestive
cancerOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
infectionOpen Targets
0.00Suggestive
thyroid cancerOpen Targets
0.00Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
dental cariesOpen Targets
0.00Suggestive
Guillain-Barre syndromeOpen Targets
0.00Suggestive
nosocomial infectionOpen Targets
0.00Suggestive
peritonitisOpen Targets
0.00Suggestive
pneumoniaOpen Targets
0.00Suggestive
acute promyelocytic leukemiaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
LIASProtein interaction94%TULP3Protein interaction83%SAMD5Shared pathway50%PPM1KShared pathway33%RASAL3Shared pathway33%RHEXShared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
89%
Liver
61%
Brain
42%
Lung
38%
Heart
35%
Gene Interaction Network
Click a node to explore
ANKRD54LIASTULP3SAMD5PPM1KRASAL3RHEX
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6NXT1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.81 [0.59–1.13]
RankingsWhere ANKRD54 stands among ~20K protein-coding genes
  • #11,852of 20,598
    Most Researched30
  • #11,640of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedANKRD54
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
ANKRD54 preferentially selects Bruton's Tyrosine Kinase (BTK) from a Human Src-Homology 3 (SH3) domain library.
PMID: 28369144
PLoS One Β· 2017
1.00
2
Transcriptome Sequencing of Peripheral Blood Mononuclear Cells from Elite Controller-Long Term Non Progressors.
PMID: 31582776
Sci Rep Β· 2019
0.67
3
Regulation of nucleocytoplasmic shuttling of Bruton's tyrosine kinase (Btk) through a novel SH3-dependent interaction with ankyrin repeat domain 54 (ANKRD54).
PMID: 22527282
Mol Cell Biol Β· 2012
0.33