KRT31

Chr 17

keratin 31

Also known as: HA1, Ha-1, KRTHA1, hHa1

NCBI Gene: 3881UniProt: Q15323

The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. The type I hair keratins are clustered in a region of chromosome 17q12-q21 and have the same direction of transcription. [provided by RefSeq, Jul 2008]

65
ClinVar variants
7
Pathogenic / LP
0.01
pLI score
-0.2
Missense Z
0.68
LOEUF
0
Active trials
Clinical Summary— KRT31
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 52 VUS of 65 total submissions
Some data sources returned errors (1)

ensembl: Error: Ensembl fetch failed: 500 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/KRT31?content-type=application/json&expand=1

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
0.68LOEUF
pLI 0.008
Z-score 2.61
OE 0.36 (0.20–0.68)
Tolerant

Typical tolerance to LoF variation

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.
-0.19Z-score
OE missense 1.03 (0.93–1.14)
271 obs / 262.5 exp
Tolerant

Tolerant to missense variation

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.0.36 (0.20–0.68)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.03 (0.93–1.14)
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.1.16
0≤1.21.6
LoF obs/exp: 7 / 19.4Missense obs/exp: 271 / 262.5Syn Z: -1.34

ClinVar Variant Classifications

65 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
VUS52
Likely Benign5
Benign1
7
Pathogenic
52
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
52
0
0
52
Likely Benign
0
3
0
2
5
Benign
0
0
0
1
1
Total0557365

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

KRT31 · 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
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 ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Human identification of single hair shaft using a mass spectrometry mRNA typing system.
Fan J et al.·Forensic Sci Int Genet
2024
Meta-Analysis of Gene Expression Reveals the Core Transcriptomic Profile of Lesional Scalp in Alopecia Areata
Rivera-Ruiz I et al.·Dermatol Ther (Heidelb)
2025
Quantitative proteomics on the cerebrospinal fluid of hydrocephalus in neonatal bacterial meningitis
Chen J et al.·Front Pediatr
2022
Genome-wide association analysis of anti-TNF-alpha treatment response in Chinese patients with psoriasis
Ren Y et al.·Front Pharmacol
2022Cohort
Keratin8 Deficiency Aggravates Retinal Ganglion Cell Damage Under Acute Ocular Hypertension
Zhang C et al.·Invest Ophthalmol Vis Sci
2023
Keratin-mediated hair growth and its underlying biological mechanism
An SY et al.·Commun Biol
2022Functional
Ovine KRT81 Variants and Their Influence on Selected Wool Traits of Commercial Value
Li W et al.·Genes (Basel)
2024
Mediator 1 ablation induces enamel-to-hair lineage conversion in mice through enhancer dynamics
Thaler R et al.·Commun Biol
2023
An Improved Sample Preparation Method for Protein and Peptide Identification from Human Hair
Zhang Z et al.·J Proteome Res
2023
Top 9 full-text resultsSearch PubTator3 ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients