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8 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MAP6D1
MAP6 domain containing 1
Chromosome 3 · 3q27.1
NCBI Gene: 79929Ensembl: ENSG00000180834.9HGNC: HGNC:25753UniProt: Q9H9H5
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cis-Golgi networkmicrotubulemicrotubule bindingcytoskeleton-dependent intracellular transportalcohol drinkinggestational diabetesneoplasmcholangiocarcinoma
✦AI Summary

MAP6D1 (MAP6 domain containing 1) is a microtubule-associated protein with diverse cellular functions beyond canonical microtubule stabilization. Primary function: MAP6D1 stabilizes microtubules and assembles ciliary doublet microtubules by recruiting tubulin dimers onto the A-tubule lattice to initiate B-tubule nucleation, with its loss resulting in shortened cilia characteristic of ciliopathies 1. Mechanism: The protein localizes to multiple subcellular compartments including the Golgi apparatus, plasma membrane, mitochondria (at the outer membrane and intermembrane space), and primary cilia via its Mn-motif domain 21. MAP6D1 undergoes N-terminal palmitoylation by DHHC-type enzymes and can multimerize via its microtubule-binding module 2. It also promotes formation of luminal protofilaments in microtubules, enhancing stability 1. Disease relevance: MAP6D1 has been identified in multiple disease contexts. DNA methylation changes in MAP6D1 occur following maternal antenatal corticosteroid exposure in neonates, implicating it in neurodevelopmental pathways 3. The gene shows altered expression in clear cell renal cell carcinoma progression and serves as a stage-classification biomarker 4. MAP6D1 is targeted by WTAP in multiple myeloma progression via Hippo pathway modulation 5, and elevated expression correlates with gestational diabetes mellitus pathogenesis 6. Clinical significance: MAP6D1 is associated with lymph node metastasis prediction in prostate cancer 7 and liver cancer progression through HNF4α-regulated enhancer interactions 8.

Sources cited
1
MAP6D1 localizes to Golgi, plasma membrane, and mitochondria; undergoes palmitoylation; and can multimerize via microtubule-binding modules
PMID: 25526643
2
MAP6D1 assembles ciliary doublet microtubules via Mn-motif domains and promotes luminal protofilament formation; loss causes shortened cilia
PMID: 40617876
3
MAP6D1 is among top genes with neurological function showing altered DNA methylation in neonatal blood following antenatal corticosteroid exposure
PMID: 35354798
4
MAP6D1 is overexpressed in late-stage clear cell renal cell carcinoma and serves as a stage-classification biomarker
PMID: 28349958
5
WTAP targets MAP6D1 to regulate multiple myeloma proliferation via the Hippo signaling pathway
PMID: 41200937
6
MAP6D1 expression is elevated in gestational diabetes mellitus placental tissues
PMID: 38565759
7
MAP6D1 is among seven significant genes associated with lymph node metastasis in prostate cancer
PMID: 31348270
8
MAP6D1 is a putative target gene regulated by HNF4α-binding enhancer mutations in liver cancer
PMID: 33785712
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.03Suggestive
gestational diabetesOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cholangiocarcinomaOpen Targets
0.01Suggestive
ciliopathyOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
liver cancerOpen Targets
0.00Suggestive
Miyoshi myopathyOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
CirrhosisOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
fibrosisOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
posterior cortical atrophyOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
MAP6Shared pathway50%TOGARAM2Shared pathway33%TTLL9Shared pathway33%CALML6Shared pathway33%EFCAB11Shared pathway33%TTLL2Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Liver
4%
Ovary
4%
Lung
3%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MAP6D1MAP6TOGARAM2TTLL9CALML6EFCAB11TTLL2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H9H5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.77LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.18 [0.78–1.77]
RankingsWhere MAP6D1 stands among ~20K protein-coding genes
  • #17,647of 20,598
    Most Researched8
  • #16,444of 17,882
    Most Constrained (LOEUF)1.77
Genes detectedMAP6D1
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Non-microtubular localizations of microtubule-associated protein 6 (MAP6).
PMID: 25526643
PLoS One · 2014
1.00
2
The Mn-motif protein MAP6d1 assembles ciliary doublet microtubules.
PMID: 40617876
Nat Commun · 2025
0.88
3
DNA methylation signatures in human neonatal blood following maternal antenatal corticosteroid treatment.
PMID: 35354798
Transl Psychiatry · 2022
0.75
4
Gene expression-based biomarkers for discriminating early and late stage of clear cell renal cancer.
PMID: 28349958
Sci Rep · 2017
0.63
5
WTAP promotes the proliferation of multiple myeloma by regulating the hippo pathway through m
PMID: 41200937
Leuk Lymphoma · 2026
0.50