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Atlas / Gene / KRT35

KRT35

gene
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Also known as Ha-5

Summary

KRT35 (keratin 35, HGNC:6453) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cuticular Ha5 (Q92764).

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 3886 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 89 total
  • MANE Select transcript: NM_002280

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6453
Approved symbolKRT35
Namekeratin 35
Location17q21.2
Locus typegene with protein product
StatusApproved
AliasesHa-5
Ensembl geneENSG00000197079
Ensembl biotypeprotein_coding
OMIM602764
Entrez3886

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000246639

RefSeq mRNA: 1 — MANE Select: NM_002280 NM_002280

CCDS: CCDS11394

Canonical transcript exons

ENST00000246639 — 7 exons

ExonStartEnd
ENSE000011182834147671041477203
ENSE000011182914148062741481151
ENSE000023596064147751841477738
ENSE000023608674147883441478995
ENSE000023674174147836141478486
ENSE000024096894147934741479503
ENSE000024209244147969941479781

Expression profiles

Bgee: expression breadth broad, 44 present calls, max score 74.51.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0069 / max 9.4684, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1659030.00693

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
upper arm skinUBERON:000426374.51silver quality
hair follicleUBERON:000207367.32gold quality
deciduaUBERON:000245056.55gold quality
gluteal muscleUBERON:000200056.34gold quality
triceps brachiiUBERON:000150956.25gold quality
zone of skinUBERON:000001453.71gold quality
epithelium of nasopharynxUBERON:000195153.67gold quality
skin of legUBERON:000151152.46gold quality
endometrium epitheliumUBERON:000481152.42gold quality
tibialis anteriorUBERON:000138551.43silver quality
deltoidUBERON:000147650.76gold quality
nippleUBERON:000203050.50gold quality
frontal poleUBERON:000279550.41gold quality
middle frontal gyrusUBERON:000270250.30gold quality
quadriceps femorisUBERON:000137750.29gold quality
paraflocculusUBERON:000535150.18gold quality
Brodmann (1909) area 10UBERON:001354150.18gold quality
skin of abdomenUBERON:000141650.15gold quality
vastus lateralisUBERON:000137949.35gold quality
Brodmann (1909) area 46UBERON:000648349.30gold quality
blood vessel layerUBERON:000479749.29gold quality
cerebellar vermisUBERON:000472049.25gold quality
cervix squamous epitheliumUBERON:000692249.20gold quality
thymusUBERON:000237048.95gold quality
olfactory bulbUBERON:000226448.92gold quality
choroid plexus epitheliumUBERON:000391148.89gold quality
myocardiumUBERON:000234948.87gold quality
type B pancreatic cellCL:000016948.83gold quality
epithelial cell of pancreasCL:000008348.72gold quality
cardiac muscle of right atriumUBERON:000337948.55gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no1.14

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): RELA

miRNA regulators (miRDB)

13 targeting KRT35, 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-205-3P99.9269.923165
HSA-MIR-3065-3P99.8770.251407
HSA-MIR-3942-3P99.5769.032854
HSA-MIR-203A-3P99.4970.562806
HSA-MIR-217-5P99.4969.931419
HSA-MIR-425199.4069.193363
HSA-MIR-4727-5P99.2367.551154
HSA-MIR-6807-3P99.1569.231275
HSA-MIR-425397.4865.11692
HSA-MIR-6862-5P97.4864.84713
HSA-MIR-290996.3667.30562
HSA-MIR-4761-3P96.2766.26524
HSA-MIR-769-5P94.4564.56603

Literature-anchored findings (GeneRIF, showing 2)

  • the co-expression of hair keratin hHa5 with its regulatory nuclear homeoprotein HOXC13 in matrix cells of the hair follicle is maintained in lower transitional cells of pilomatricomas (PMID:15140206)
  • p65 induces transcriptional activation of Ha5. It is co-expressed with it & may mediate the NF-kappaB pathway’s activity. There are major NF-kappaB/RelA binding sites in its regulatory region; p65 binds directly to these sites. (PMID:18021261)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusKrt35ENSMUSG00000048013
rattus_norvegicusKrt35ENSRNOG00000013754

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), 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)

Protein

Protein identifiers

Keratin, type I cuticular Ha5 — Q92764 (reviewed: Q92764)

Alternative names: Hair keratin, type I Ha5, Keratin-35

All UniProt accessions (2): C4AM86, Q92764

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Early expression in the hair follicle, mainly found in supramatricial cells and lowermost cortical cells of the hair bulb.

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

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_002271* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002957Keratin_IFamily
IPR018039IF_conservedConserved_site
IPR039008IF_rod_domDomain

Pfam: PF00038

UniProt features (14 total): region of interest 7, sequence variant 3, chain 1, domain 1, sequence conflict 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q92764-F176.570.57

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): 346 (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: 80 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GCM_MYCL1, GCM_RING1, CATTTCA_MIR203, MARTINEZ_RB1_TARGETS_DN, MODULE_298, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, AACTTT_UNKNOWN, GCM_ATM, MODULE_20, GOBP_TISSUE_MORPHOGENESIS, GCM_LTK

GO Biological Process (4): morphogenesis of an epithelium (GO:0002009), anatomical structure morphogenesis (GO:0009653), epithelial cell differentiation (GO:0030855), intermediate filament organization (GO:0045109)

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

GO Cellular Component (6): obsolete extracellular space (GO:0005615), cytosol (GO:0005829), cytoskeleton (GO:0005856), keratin filament (GO:0045095), extracellular exosome (GO:0070062), intermediate filament (GO:0005882)

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
developmental process1
anatomical structure development1
cell differentiation1
intermediate filament cytoskeleton organization1
supramolecular fiber organization1
structural molecule activity1
molecular_function1
binding1
cytoplasm1
cellular anatomical structure1
intracellular membraneless organelle1
intermediate filament1
extracellular vesicle1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

872 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRT35KRT85P78386732
KRT35MYO1GB0I1T2595
KRT35HOXC13P31276593
KRT35KRTAP11-1Q8IUC1570
KRT35CA5AP35218549
KRT35KRTAP3-1Q9BYR8543
KRT35CA6P23280507
KRT35CD1AP06126487
KRT35HTATIP2Q9BUP3480
KRT35DSG4Q86SJ6442
KRT35HOXC12P31275441
KRT35KRT18P05783439
KRT35ARHGAP45Q92619430
KRT35CA4P22748426
KRT35TCHHQ07283412

IntAct

273 interactions, top by confidence:

ABTypeScore
KRT78KRT35psi-mi:“MI:0915”(physical association)0.630
TRIM29KRT35psi-mi:“MI:0915”(physical association)0.560
KRT6AKRT35psi-mi:“MI:0915”(physical association)0.560
KRT4KRT35psi-mi:“MI:0915”(physical association)0.560
MYO15BKRT35psi-mi:“MI:0915”(physical association)0.560
SMYD1KRT35psi-mi:“MI:0915”(physical association)0.560
PKN1KRT35psi-mi:“MI:0915”(physical association)0.560
KRT35MCRS1psi-mi:“MI:0915”(physical association)0.560
C21orf58KRT35psi-mi:“MI:0915”(physical association)0.560
KRT77KRT35psi-mi:“MI:0915”(physical association)0.560
KRT35TAPBPLpsi-mi:“MI:0915”(physical association)0.560
KRT35CTSZpsi-mi:“MI:0915”(physical association)0.560
OIP5KRT35psi-mi:“MI:0915”(physical association)0.560
KRT35AIRIMpsi-mi:“MI:0915”(physical association)0.560
KRT35TEPSINpsi-mi:“MI:0915”(physical association)0.560
CCHCR1KRT35psi-mi:“MI:0915”(physical association)0.560
KRT35HAPLN2psi-mi:“MI:0915”(physical association)0.560
TCEANCKRT35psi-mi:“MI:0915”(physical association)0.560
HGSKRT35psi-mi:“MI:0915”(physical association)0.560
EFCAB3KRT35psi-mi:“MI:0915”(physical association)0.560
KRT35PRPF18psi-mi:“MI:0915”(physical association)0.560
KRT2KRT35psi-mi:“MI:0915”(physical association)0.560
HOXC8KRT35psi-mi:“MI:0915”(physical association)0.560
UBASH3AKRT35psi-mi:“MI:0915”(physical association)0.560
ATG9AKRT35psi-mi:“MI:0915”(physical association)0.560
KRT86KRT35psi-mi:“MI:0915”(physical association)0.560
KRT35ZNF446psi-mi:“MI:0915”(physical association)0.560
KRT83KRT35psi-mi:“MI:0915”(physical association)0.560
HCKKRT35psi-mi:“MI:0915”(physical association)0.560
KRT35VPS9D1psi-mi:“MI:0915”(physical association)0.560

BioGRID (108): KRT35 (Affinity Capture-MS), KRT35 (Affinity Capture-MS), KRT35 (Affinity Capture-MS), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (Two-hybrid), KRT35 (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

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 90 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

PathwayPartnersFoldFDR
Formation of the cornified envelope2232.8×4e-26
Keratinization2220.8×7e-22

GO biological processes:

GO termPartnersFoldFDR
intermediate filament organization2164.0×9e-31
keratinization2162.2×9e-31

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance81
Likely benign8
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

515 predictions. Top by Δscore:

VariantEffectΔscore
17:41477509:GATAC:Gdonor_loss1.0000
17:41477510:ATACT:Adonor_loss1.0000
17:41477513:CTCA:Cdonor_gain1.0000
17:41477514:TCA:Tdonor_loss1.0000
17:41477515:CA:Cdonor_loss1.0000
17:41477516:A:ACdonor_gain1.0000
17:41477516:ACTTG:Adonor_gain1.0000
17:41477517:C:Adonor_loss1.0000
17:41477517:C:CCdonor_gain1.0000
17:41477517:CT:Cdonor_gain1.0000
17:41477517:CTT:Cdonor_gain1.0000
17:41477517:CTTG:Cdonor_gain1.0000
17:41477517:CTTGC:Cdonor_gain1.0000
17:41477735:CTCT:Cacceptor_gain1.0000
17:41477737:CT:Cacceptor_gain1.0000
17:41477749:A:Tacceptor_gain1.0000
17:41477754:T:Cacceptor_gain1.0000
17:41477754:T:TCacceptor_gain1.0000
17:41477756:G:Cacceptor_gain1.0000
17:41477756:G:GCacceptor_gain1.0000
17:41477758:G:Cacceptor_gain1.0000
17:41477758:G:GCacceptor_gain1.0000
17:41478355:GCTCA:Gdonor_loss1.0000
17:41478356:CTCA:Cdonor_loss1.0000
17:41478357:TCA:Tdonor_loss1.0000
17:41478358:CAC:Cdonor_loss1.0000
17:41478360:CCATG:Cdonor_gain1.0000
17:41478483:CACT:Cacceptor_gain1.0000
17:41478485:CT:Cacceptor_gain1.0000
17:41478486:TCTGA:Tacceptor_loss1.0000

AlphaMissense

2767 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:41480778:C:GR107P0.996
17:41479730:C:GA175P0.994
17:41477557:A:GI394T0.993
17:41477569:A:GL390P0.991
17:41477557:A:CI394S0.990
17:41480775:A:GL108P0.990
17:41477549:A:GY397H0.989
17:41477620:A:GL373P0.988
17:41477539:A:GL400P0.987
17:41480712:A:GI129T0.987
17:41480745:A:GL118P0.987
17:41480637:A:GL154P0.986
17:41477549:A:CY397D0.985
17:41480775:A:TL108Q0.985
17:41480784:T:AN105I0.985
17:41477641:A:GL366P0.984
17:41480787:A:GL104P0.984
17:41477545:C:GR398P0.983
17:41477590:A:GL383P0.983
17:41477629:C:GR370P0.983
17:41480763:A:GL112P0.983
17:41477578:C:GR387P0.982
17:41479429:A:GL210P0.982
17:41480751:C:GR116P0.982
17:41477611:T:GQ376P0.981
17:41477683:A:GL352P0.981
17:41480773:C:GA109P0.981
17:41477559:C:AE393D0.980
17:41477559:C:GE393D0.980
17:41477614:C:GR375P0.980

dbSNP variants (sampled 300 via entrez): RS1001062970 (17:41477063 C>T), RS1001644174 (17:41479236 G>A,T), RS1002460826 (17:41482352 C>T), RS1002650515 (17:41480434 G>C), RS1002667874 (17:41476994 T>C), RS1003749014 (17:41482007 G>C), RS1004516396 (17:41481719 T>C,G), RS1004672290 (17:41476349 A>G), RS1004724395 (17:41476651 C>T), RS1004973964 (17:41481941 G>A), RS1005385791 (17:41479165 C>T), RS1005463573 (17:41476310 G>A), RS1006397579 (17:41477812 G>A), RS1006500072 (17:41480143 G>A), RS1007171595 (17:41482809 A>G)

Disease associations

OMIM: gene MIM:602764 | 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

6 total (human), top 6 by PubMed support.

ChemicalActions (top 5)PubMed papers
CGP 52608affects binding, increases reaction1
Benzo(a)pyreneincreases methylation1
Diethylhexyl Phthalatedecreases expression1
Valproic Acidincreases methylation1
Aflatoxin B1increases methylation1
Sodium Seleniteincreases expression1

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