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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ANKHD1
ankyrin repeat and KH domain containing 1
Chromosome 5 · 5q31.3
NCBI Gene: 54882Ensembl: ENSG00000131503.22HGNC: HGNC:24714UniProt: Q8IWZ3
132PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingRNA bindinginnate immune responsecytoplasmneurodegenerative diseaseAbnormality of the skeletal systemnon-small cell lung carcinomacolorectal carcinoma
✦AI Summary

ANKHD1 (ankyrin repeat and KH domain containing 1) functions as a scaffolding protein that plays crucial roles in cell cycle regulation and proliferation control. The protein contains multiple ankyrin repeat domains that mediate protein-protein interactions and a K-homology (KH) domain that binds RNA or single-stranded DNA 1. ANKHD1 operates through several key mechanisms: it directly binds to and represses the p21 promoter, promoting cell cycle progression 2; it interacts with the Cyclin D1/CDK4 pathway to enhance retinoblastoma phosphorylation and drive proliferation 3; and it regulates the Hippo signaling pathway by increasing YAP protein levels and inhibiting YAP phosphorylation 4. Additionally, ANKHD1 binds to specific tumor-suppressing miRNAs (miR-29a, miR-205, miR-196a) through its KH domain, leading to their suppression and subsequent upregulation of proliferative genes like CCND1 5. ANKHD1 is clinically significant as it is overexpressed in multiple cancer types including non-small-cell lung cancer, renal cell carcinoma, multiple myeloma, and colorectal cancer, where elevated expression correlates with poor prognosis, increased metastasis, and treatment resistance 146. The protein has also been implicated in autosomal dominant polycystic kidney disease and intellectual disability 37.

Sources cited
1
ANKHD1 is a scaffolding protein with ankyrin repeats and KH domain, involved in cancer cell proliferation
PMID: 37629022
2
ANKHD1 directly binds and represses p21 promoter to promote cell cycle progression
PMID: 25483783
3
ANKHD1 interacts with Cyclin D1/CDK4 pathway to drive proliferation
PMID: 40457431
4
ANKHD1 regulates Hippo signaling by affecting YAP protein levels and phosphorylation
PMID: 32319569
5
ANKHD1 binds tumor-suppressing miRNAs through its KH domain to promote proliferation
PMID: 29695508
6
ANKHD1 overexpression correlates with treatment resistance in colorectal cancer
PMID: 35110552
7
ANKHD1 variants are associated with intellectual disability
PMID: 28940097
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.44Moderate
Abnormality of the skeletal systemOpen Targets
0.10Weak
non-small cell lung carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Autosomal dominant polycystic kidney diseaseOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.06Suggestive
breast carcinomaOpen Targets
0.06Suggestive
gliomaOpen Targets
0.06Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
exercise-induced hyperinsulinismOpen Targets
0.05Suggestive
hyperinsulinism-hyperammonemia syndromeOpen Targets
0.05Suggestive
hyperproinsulinemiaOpen Targets
0.05Suggestive
biliary tract diseaseOpen Targets
0.04Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.03Suggestive
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyOpen Targets
0.03Suggestive
hyperinsulinemic hypoglycemia, familial, 1Open Targets
0.03Suggestive
cystOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DEFB131BShared pathway100%DEFB131AShared pathway100%DEFB134Shared pathway100%TRIM74Shared pathway100%TRIM73Shared pathway100%BPIFB3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
79%
Ovary
71%
Liver
63%
Brain
52%
Heart
26%
Gene Interaction Network
Click a node to explore
ANKHD1DEFB131BDEFB131ADEFB134TRIM74TRIM73BPIFB3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IWZ3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.18Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.10–0.18]
RankingsWhere ANKHD1 stands among ~20K protein-coding genes
  • #3,508of 20,598
    Most Researched132 · top quartile
  • #335of 17,882
    Most Constrained (LOEUF)0.18 · top 5%
Genes detectedANKHD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Expanding the genetic heterogeneity of intellectual disability.
PMID: 28940097
Hum Genet · 2017
1.00
2
Evaluating the Molecular Properties and Function of ANKHD1, and Its Role in Cancer.
PMID: 37629022
Int J Mol Sci · 2023
0.90
3
Emerging functions for ANKHD1 in cancer-related signaling pathways and cellular processes.
PMID: 32635985
BMB Rep · 2020
0.80
4
ANKHD1 promotes pathogenic proliferation in Autosomal Dominant Polycystic Kidney Disease via the Cyclin D1/CDK4 pathway.
PMID: 40457431
J Transl Med · 2025
0.70
5
ANKHD1 promotes proliferation and invasion of non‑small‑cell lung cancer cells via regulating YAP oncoprotein expression and inactivating the Hippo pathway.
PMID: 32319569
Int J Oncol · 2020
0.60