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KRT36

gene
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Summary

KRT36 (keratin 36, HGNC:6454) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cuticular Ha6 (O76013).

The protein encoded by this gene is a member of the keratin gene family. This type I hair keratin 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.

Source: NCBI Gene 8689 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 90 total
  • MANE Select transcript: NM_003771

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6454
Approved symbolKRT36
Namekeratin 36
Location17q21.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000126337
Ensembl biotypeprotein_coding
OMIM604540
Entrez8689

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000328119, ENST00000393986

RefSeq mRNA: 1 — MANE Select: NM_003771 NM_003771

CCDS: CCDS11395

Canonical transcript exons

ENST00000328119 — 7 exons

ExonStartEnd
ENSE000012948674148940641489910
ENSE000013012544148613641486571
ENSE000013183864148695041487170
ENSE000023344224148757641487737
ENSE000023909364148864241488724
ENSE000024051974148824341488399
ENSE000024136184148735141487476

Expression profiles

Bgee: expression breadth broad, 48 present calls, max score 81.13.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2662 / max 244.9040, expressed in 6 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1659040.26626

Top tissues by expression

242 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047381.13gold quality
body of tongueUBERON:001187674.76gold quality
tongueUBERON:000172369.91gold quality
tongue squamous epitheliumUBERON:000691968.97gold quality
secondary oocyteCL:000065564.22gold quality
oocyteCL:000002359.09gold quality
superior surface of tongueUBERON:000737159.01gold quality
hair follicleUBERON:000207357.90gold quality
deciduaUBERON:000245056.55gold quality
esophagus mucosaUBERON:000246950.17gold quality
Brodmann (1909) area 46UBERON:000648349.30gold quality
cervix squamous epitheliumUBERON:000692249.20gold quality
olfactory bulbUBERON:000226448.92gold quality
myocardiumUBERON:000234948.87gold quality
type B pancreatic cellCL:000016948.83gold quality
stromal cell of endometriumCL:000225548.72gold quality
cardiac muscle of right atriumUBERON:000337948.55gold quality
quadriceps femorisUBERON:000137748.51gold quality
CA1 field of hippocampusUBERON:000388148.50gold quality
vastus lateralisUBERON:000137948.25gold quality
left ventricle myocardiumUBERON:000656648.24gold quality
orbitofrontal cortexUBERON:000416748.20gold quality
upper arm skinUBERON:000426348.06gold quality
mucosa of urinary bladderUBERON:000125947.80gold quality
epithelial cell of pancreasCL:000008347.62gold quality
metanephric glomerulusUBERON:000473647.45gold quality
thymusUBERON:000237047.42gold quality
kidney epitheliumUBERON:000481947.39gold quality
nephron tubuleUBERON:000123147.30gold quality
spleenUBERON:000210647.16gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no1.61

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TBP

miRNA regulators (miRDB)

24 targeting KRT36, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-6835-3P99.9370.492904
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-3680-3P99.7572.513095
HSA-MIR-365999.7067.97694
HSA-MIR-426199.5970.303415
HSA-MIR-513A-3P99.3970.633620
HSA-MIR-513C-3P99.3970.633620
HSA-MIR-19A-5P99.3666.931675
HSA-MIR-19B-1-5P99.3667.071669
HSA-MIR-19B-2-5P99.3667.071669
HSA-MIR-4650-3P99.0168.391062
HSA-MIR-445198.8268.171455
HSA-MIR-5006-5P98.7966.921246
HSA-MIR-5011-3P98.6364.81638
HSA-MIR-60398.5868.281603
HSA-MIR-216B-3P98.5567.191223
HSA-MIR-66597.6065.641781
HSA-MIR-6799-3P97.3565.601302
HSA-MIR-122-5P97.2364.921024
HSA-MIR-807195.6964.93484
HSA-MIR-31-3P95.1769.82575
HSA-MIR-6889-5P90.2664.13291
HSA-MIR-6777-5P88.7662.64222

Literature-anchored findings (GeneRIF, showing 1)

  • Low KRT36 expression is associated with tongue squamous cell carcinoma. (PMID:28038473)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusKrt36ENSMUSG00000020916
rattus_norvegicusKrt36ENSRNOG00000031805

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type I cuticular Ha6 — O76013 (reviewed: O76013)

Alternative names: Hair keratin, type I Ha6, Keratin-36

All UniProt accessions (1): O76013

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Heterotetramer of two type I and two type II keratins.

Tissue specificity. Expressed in the hair follicles.

Miscellaneous. There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic).

Similarity. Belongs to the intermediate filament family.

Isoforms (2)

UniProt IDNamesCanonical?
O76013-11yes
O76013-22

RefSeq proteins (1): NP_003762* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002957Keratin_IFamily
IPR018039IF_conservedConserved_site
IPR039008IF_rod_domDomain

Pfam: PF00038

UniProt features (17 total): region of interest 7, sequence variant 6, chain 1, domain 1, splice variant 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-O76013-F177.680.55

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 342 (stutter)

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

IDPathway
R-HSA-6805567Keratinization
R-HSA-6809371Formation of the cornified envelope
R-HSA-1266738Developmental Biology

MSigDB gene sets: 95 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, CREL_01, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_REGULATION_OF_EPIDERMIS_DEVELOPMENT, GOBP_REGULATION_OF_EPITHELIAL_CELL_DIFFERENTIATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MARTINEZ_RB1_TARGETS_UP, TGACATY_UNKNOWN, GOBP_EPIDERMIS_DEVELOPMENT, NRF2_Q4, NKX22_01, ATF4_Q2, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA

GO Biological Process (4): morphogenesis of an epithelium (GO:0002009), epithelial cell differentiation (GO:0030855), intermediate filament organization (GO:0045109), regulation of keratinocyte differentiation (GO:0045616)

GO Molecular Function (3): structural constituent of skin epidermis (GO:0030280), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (6): cytosol (GO:0005829), cytoskeleton (GO:0005856), keratin filament (GO:0045095), extracellular exosome (GO:0070062), intermediate filament (GO:0005882), intermediate filament cytoskeleton (GO:0045111)

Reactome top-level categories

Rollup of top-2 pathways:

CategoryPathways
Developmental Biology1
Keratinization1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
epithelium development2
tissue morphogenesis1
cell differentiation1
intermediate filament cytoskeleton organization1
supramolecular fiber organization1
keratinocyte differentiation1
regulation of epidermal cell differentiation1
structural molecule activity1
molecular_function1
binding1
cytoplasm1
cellular anatomical structure1
intracellular membraneless organelle1
intermediate filament1
extracellular vesicle1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1
cytoskeleton1

Protein interactions and networks

STRING

942 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRT36NAIF1Q69YI7612
KRT36KRTAP3-1Q9BYR8504
KRT36SMIM12Q96EX1436
KRT36GSTM4Q03013432
KRT36PDLIM2Q96JY6413
KRT36GPR158Q5T848405
KRT36FAM107AO95990399
KRT36BEND7Q8N7W2396
KRT36MNMIP1A4FU49390
KRT36TCAIMQ8N3R3386
KRT36HOXC13P31276385
KRT36SHISA4Q96DD7385
KRT36LRRC40Q9H9A6384
KRT36LY6DQ14210381
KRT36KRTAP13-1Q8IUC0380

IntAct

17 interactions, top by confidence:

ABTypeScore
NEURL4APBB1psi-mi:“MI:0914”(association)0.530
EBNA2KRT36psi-mi:“MI:0915”(physical association)0.370
CUL3PXDNLpsi-mi:“MI:0914”(association)0.350
OTUD4KRT36psi-mi:“MI:0914”(association)0.350
USP8psi-mi:“MI:0914”(association)0.350
GRB2CNOT1psi-mi:“MI:0914”(association)0.350
EPS15KRT33Apsi-mi:“MI:0914”(association)0.350
RAB24KRT36psi-mi:“MI:0914”(association)0.350
ATG2ASUPT5Hpsi-mi:“MI:0914”(association)0.350
ESR2PSMD11psi-mi:“MI:0914”(association)0.350
ELF3KRT36psi-mi:“MI:0915”(physical association)0.000
LYARKRT36psi-mi:“MI:0915”(physical association)0.000
TWF2KRT36psi-mi:“MI:0915”(physical association)0.000
KRT36psi-mi:“MI:0915”(physical association)0.000
DNPEPKRT36psi-mi:“MI:0915”(physical association)0.000
KRT36UBA1psi-mi:“MI:0220”(ubiquitination reaction)0.000

BioGRID (72): KRT36 (Biochemical Activity), KRT36 (Biochemical Activity), KRT36 (Affinity Capture-MS), KRT36 (Affinity Capture-MS), KRT36 (Affinity Capture-MS), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid), KRT36 (Two-hybrid)

ESM2 similar proteins: A1L317, A1L595, A5A6N2, A6BLY7, B1AQ75, E1AB55, O76013, P02533, P08730, P08779, P13646, P19012, Q0P5J4, Q0P5J6, Q0P5J7, Q148H5, Q148H6, Q148H8, Q2M2I5, Q3UV17, Q497I4, Q61414, Q61781, Q64291, Q6IFU7, Q6IFU8, Q6IFV1, Q6IFV3, Q6IFV4, Q6IFW6, Q6IFW8, Q6IFX0, Q6IFX1, Q6IFX2, Q6NXH9, Q6R649, Q6R650, Q7Z3Y7, Q7Z3Y8, Q7Z3Y9

Diamond homologs: A1KQY9, A1L317, A1L595, A5A6M0, A5A6M5, A5A6N2, A5A6P3, A6BLY7, A6QQQ9, A7YWM2, B0LKP1, B1AQ75, O57607, O57611, O76009, O76013, O77727, O93256, P02533, P02534, P02535, P02537, P05781, P05783, P05784, P06394, P08727, P08728, P08730, P08777, P08778, P08779, P08802, P13645, P13646, P19001, P19012, P25030, P25690, P35527

SIGNOR signaling

1 interactions.

AEffectBMechanism
SMURF1unknownKRT36ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

90 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance81
Likely benign5
Benign2

Top pathogenic / likely-pathogenic (0)

SpliceAI

986 predictions. Top by Δscore:

VariantEffectΔscore
17:41486948:A:ACdonor_gain1.0000
17:41486949:C:CCdonor_gain1.0000
17:41486962:C:CAdonor_gain1.0000
17:41487166:TTCCG:Tacceptor_gain1.0000
17:41487167:TCCG:Tacceptor_gain1.0000
17:41487168:CCG:Cacceptor_gain1.0000
17:41487168:CCGC:Cacceptor_gain1.0000
17:41487169:CG:Cacceptor_gain1.0000
17:41487169:CGC:Cacceptor_gain1.0000
17:41487171:C:CCacceptor_gain1.0000
17:41487171:C:CGacceptor_loss1.0000
17:41487174:CAA:Cacceptor_gain1.0000
17:41487175:A:Tacceptor_gain1.0000
17:41487176:A:ACacceptor_gain1.0000
17:41487176:A:Cacceptor_gain1.0000
17:41487346:CTCA:Cdonor_loss1.0000
17:41487348:CACCA:Cdonor_loss1.0000
17:41487349:A:ACdonor_gain1.0000
17:41487349:AC:Adonor_gain1.0000
17:41487349:ACCAT:Adonor_loss1.0000
17:41487350:C:CTdonor_gain1.0000
17:41487350:CC:Cdonor_gain1.0000
17:41487350:CCA:Cdonor_gain1.0000
17:41487350:CCAT:Cdonor_gain1.0000
17:41487350:CCATG:Cdonor_gain1.0000
17:41487472:TCAGT:Tacceptor_gain1.0000
17:41487473:CAGT:Cacceptor_gain1.0000
17:41487473:CAGTC:Cacceptor_gain1.0000
17:41487474:AGT:Aacceptor_gain1.0000
17:41487475:GT:Gacceptor_gain1.0000

AlphaMissense

3032 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:41487365:C:GA325P0.995
17:41487370:A:GL323P0.995
17:41488673:C:GA171P0.994
17:41488661:C:GA175P0.993
17:41488648:C:GR179P0.990
17:41488666:A:GL173P0.989
17:41487585:G:CF284L0.988
17:41487585:G:TF284L0.988
17:41487587:A:GF284L0.988
17:41487148:A:GL337P0.987
17:41487382:A:GL319P0.986
17:41487361:T:GQ326P0.983
17:41487169:C:GR330P0.982
17:41487403:A:GL312P0.982
17:41488664:C:GA174P0.982
17:41487466:A:GL291P0.980
17:41488678:T:AD169V0.980
17:41487164:A:GS332P0.979
17:41488655:C:GD177H0.979
17:41489557:C:GR103P0.979
17:41487073:A:GL362P0.978
17:41488262:A:GL227P0.977
17:41487397:C:GR314P0.976
17:41488325:A:GL206P0.976
17:41488399:C:AK181N0.976
17:41488399:C:GK181N0.976
17:41487386:C:GA318P0.975
17:41488283:A:GL220P0.975
17:41488663:G:TA174D0.975
17:41488271:A:GL224P0.973

dbSNP variants (sampled 300 via entrez): RS1001507585 (17:41490805 G>A,T), RS1001556857 (17:41491080 G>A,T), RS1002005613 (17:41486659 A>C), RS1002253929 (17:41489482 C>G), RS1003127961 (17:41491751 T>C), RS1003320689 (17:41491122 C>G), RS1003622806 (17:41487666 A>G), RS1003840 (17:41490081 C>A,G,T), RS1003841 (17:41490047 G>A), RS1003842 (17:41489769 A>C,G,T), RS1003977943 (17:41486142 T>C), RS1004028918 (17:41486393 G>A,T), RS1004081517 (17:41488078 G>T), RS1005705421 (17:41487634 T>C,G), RS1005986835 (17:41488739 G>T)

Disease associations

OMIM: gene MIM:604540 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

ChemicalActions (top 5)PubMed papers
vanadyl sulfateincreases expression1
Resveratrolaffects cotreatment, decreases expression1
Arsenicdecreases methylation1
Caffeinedecreases expression1
Folic Aciddecreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Valproic Acidincreases methylation1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 75

This page pulls from 75 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot