MAP7D1

Chr 1

MAP7 domain containing 1

Also known as: PARCC1, RPRC1

NCBI Gene: 55700ENSG00000116871UniProt: Q3KQU3

Predicted to be involved in microtubule cytoskeleton organization. Located in spindle. [provided by Alliance of Genome Resources, Jul 2025]

0
ClinVar variants
0
Pathogenic / LP
0.99
pLI score· haploinsufficient
0
Active trials
Clinical Summary— MAP7D1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.99). One damaged copy is likely sufficient to cause disease.
Some data sources returned errors (1)

clinvarCount: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.29LOEUF
pLI 0.992
Z-score 5.06
OE 0.15 (0.08–0.29)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.00Z-score
OE missense 0.88 (0.81–0.95)
449 obs / 512.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.15 (0.08–0.29)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.88 (0.81–0.95)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.96
0≤1.21.6
LoF obs/exp: 6 / 40.9Missense obs/exp: 449 / 512.8Syn Z: 0.49

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MAP7D1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Map7D2 and Map7D1 facilitate microtubule stabilization through distinct mechanisms in neuronal cells.
Kikuchi K et al.·Life Sci Alliance
2022Functional
DCLK1 phosphorylates the microtubule-associated protein MAP7D1 to promote axon elongation in cortical neurons.
Koizumi H et al.·Dev Neurobiol
2017
Microtubule-associated proteins MAP7 and MAP7D1 promote DNA double-strand break repair in the G1 cell cycle phase.
Dullovi A et al.·iScience
2023
A novel MAP7D1 mutation causes mitotic defects and RPS14 accumulation in Shwachman-Diamond syndrome patient cells.
Kucukvardar S et al.·Dis Model Mech
2025
Genome-wide 5-Hydroxymethylcytosine Profiling Analysis Identifies MAP7D1 as A Novel Regulator of Lymph Node Metastasis in Breast Cancer.
Wu SL et al.·Genomics Proteomics Bioinformatics
2021
MAP7 family proteins regulate kinesin-1 recruitment and activation.
Hooikaas PJ et al.·J Cell Biol
2019
Emergence of unique SARS-CoV-2 ORF10 variants and their impact on protein structure and function.
Hassan SS et al.·Int J Biol Macromol
2022
Disruption of MAP7D1 Gene Function Increases the Risk of Doxorubicin-Induced Cardiomyopathy and Heart Failure.
Li LP et al.·Biomed Res Int
2021
Map7/7D1 and Dvl form a feedback loop that facilitates microtubule remodeling and Wnt5a signaling.
Kikuchi K et al.·EMBO Rep
2018Functional
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.·Ophthalmol Sci
2023
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools