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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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AHCTF1
AT-hook containing transcription factor 1
Chromosome 1 · 1q44
NCBI Gene: 25909Ensembl: ENSG00000153207.17HGNC: HGNC:24618UniProt: Q8WYP5
109PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTransporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
kinetochorenuclear porenuclear pore outer ringnuclear envelopeneurodegenerative diseaselysosomal storage diseasestricturepremature birth
✦AI Summary

AHCTF1 (also known as ELYS/MEL-28) is a nucleoporin essential for nuclear pore complex (NPC) assembly and nuclear envelope formation during mitosis. The protein functions by binding to chr1 through its C-terminal region, specifically through an Arg-Arg-Lys (RRK) stretch that interacts with the nucleosome's acidic patch 1. AHCTF1 serves as an assembly platform that recruits the Nup107-160 subcomplex to initiate post-mitotic NPC formation 2. During mitosis, AHCTF1 undergoes extensive phosphorylation, enabling its interaction with membrane protein VAPB through a phosphorylation-dependent FFAT motif, which facilitates nuclear envelope assembly 3. Beyond structural roles, AHCTF1 participates in gene regulation by mediating oncogenic super-enhancer gating of MYC to nuclear pores, facilitating mRNA export and contributing to cancer cell growth 45. The protein also regulates the phosphorylation state and localization of lamin B receptor (LBR), contributing to nuclear integrity 6. Mutations in AHCTF1 have been identified in follicular thyroid cancer cell lines, suggesting potential therapeutic relevance 7. The gene has also been associated with coagulation factor IX activity regulation 8.

Sources cited
1
AHCTF1 C-terminal RRK stretch binds to nucleosome acidic patch for chromatin interaction
PMID: 31069272
2
AHCTF1 is required for nuclear envelope formation and NPC assembly at mitosis end
PMID: 26224877
3
Phosphorylated AHCTF1 interacts with VAPB through FFAT motif during mitosis
PMID: 38605278
4
AHCTF1 mediates oncogenic MYC gating to nuclear pores in cancer cells
PMID: 31784729
5
AHCTF1 recruitment to CTCF binding sites enables WNT-dependent MYC trafficking
PMID: 35017527
6
AHCTF1 regulates LBR localization through phosphorylation network control
PMID: 27802161
7
AHCTF1 mutations identified in follicular thyroid cancer cell lines
PMID: 29571661
8
AHCTF1 locus associated with plasma coagulation factor IX activity regulation
PMID: 41161418
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.52Moderate
lysosomal storage diseaseOpen Targets
0.31Weak
strictureOpen Targets
0.24Weak
premature birthOpen Targets
0.20Weak
Delayed speech and language developmentOpen Targets
0.11Weak
Intellectual disabilityOpen Targets
0.11Weak
StrabismusOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
peripheral vascular diseaseOpen Targets
0.04Suggestive
frozen shoulderOpen Targets
0.03Suggestive
cancerOpen Targets
0.02Suggestive
Abruptio PlacentaeOpen Targets
0.02Suggestive
metastatic melanomaOpen Targets
0.01Suggestive
HIV-1 infectionOpen Targets
0.01Suggestive
hyperinsulinemic hypoglycemia, familial, 4Open Targets
0.01Suggestive
colorectal cancerOpen Targets
0.00Suggestive
breast ductal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
in situ carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
POM121Protein interaction100%SEH1LProtein interaction99%NUDCProtein interaction99%NUP35Protein interaction99%NUP85Protein interaction99%NUP54Protein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
75%
Lung
51%
Brain
48%
Liver
36%
Heart
32%
Gene Interaction Network
Click a node to explore
AHCTF1POM121SEH1LNUDCNUP35NUP85NUP54
PROTEIN STRUCTURE
Preparing viewer…
PDB7R5K · 12.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.14Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.10 [0.07–0.14]
RankingsWhere AHCTF1 stands among ~20K protein-coding genes
  • #4,342of 20,598
    Most Researched109 · top quartile
  • #174of 17,882
    Most Constrained (LOEUF)0.14 · top 1%
Genes detectedAHCTF1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
WNT signaling and AHCTF1 promote oncogenic MYC expression through super-enhancer-mediated gene gating.
PMID: 31784729
Nat Genet · 2019
1.00
2
Genome-wide identification of loci associated with plasma coagulation factor IX activity.
PMID: 41161418
J Thromb Haemost · 2026
0.90
3
Canonical WNT signaling-dependent gating of MYC requires a noncanonical CTCF function at a distal binding site.
PMID: 35017527
Nat Commun · 2022
0.80
4
Whole-Exome Sequencing Identifies Two Discrete Druggable Signaling Pathways in Follicular Thyroid Cancer.
PMID: 29571661
J Am Coll Surg · 2018
0.70
5
The lysine demethylase LSD1 is required for nuclear envelope formation at the end of mitosis.
PMID: 26224877
J Cell Sci · 2015
0.60