◎ Sugi Atlas

Atlas / Gene / KRT27

KRT27

gene
On this page

Summary

KRT27 (keratin 27, HGNC:30841) is a protein-coding gene on chromosome 17q21.2, encoding Keratin, type I cytoskeletal 27 (Q7Z3Y8). Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs).

This gene encodes a member of the type I (acidic) keratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. The type I keratin genes are clustered in a region of chromosome 17q12-q21.

Source: NCBI Gene 342574 — RefSeq curated summary.

At a glance

  • GWAS associations: 1
  • Clinical variants (ClinVar): 69 total
  • MANE Select transcript: NM_181537

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30841
Approved symbolKRT27
Namekeratin 27
Location17q21.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000171446
Ensembl biotypeprotein_coding
OMIM616676
Entrez342574

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000301656, ENST00000540723

RefSeq mRNA: 1 — MANE Select: NM_181537 NM_181537

CCDS: CCDS11375

Canonical transcript exons

ENST00000301656 — 8 exons

ExonStartEnd
ENSE000012195124078205040782550
ENSE000013323444078118840781270
ENSE000023468824078030040780456
ENSE000023487044077970040779861
ENSE000023619604077950240779627
ENSE000035276824077680840777138
ENSE000035882394077725340777302
ENSE000036240654077751540777732

Expression profiles

Bgee: expression breadth ubiquitous, 107 present calls, max score 95.12.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0950 / max 137.6075, expressed in 5 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1658070.09505

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
upper arm skinUBERON:000426395.12gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.97gold quality
skin of hipUBERON:000155479.34gold quality
pancreatic ductal cellCL:000207964.65silver quality
buccal mucosa cellCL:000233663.62gold quality
zone of skinUBERON:000001462.80gold quality
skin of legUBERON:000151162.80gold quality
skin of abdomenUBERON:000141659.93gold quality
nippleUBERON:000203055.99silver quality
epithelial cell of pancreasCL:000008355.21gold quality
cardiac muscle of right atriumUBERON:000337954.34gold quality
left ventricle myocardiumUBERON:000656654.23gold quality
kidney epitheliumUBERON:000481953.93gold quality
upper leg skinUBERON:000426253.45silver quality
right lungUBERON:000216752.40gold quality
myocardiumUBERON:000234950.25gold quality
ileal mucosaUBERON:000033149.31silver quality
tibialis anteriorUBERON:000138549.01silver quality
right coronary arteryUBERON:000162547.80gold quality
deltoidUBERON:000147647.61gold quality
mucosa of transverse colonUBERON:000499147.11gold quality
nasal cavity epitheliumUBERON:000538447.03gold quality
gall bladderUBERON:000211046.70gold quality
quadriceps femorisUBERON:000137746.53gold quality
tibial nerveUBERON:000132346.48gold quality
right lobe of thyroid glandUBERON:000111946.28gold quality
left lobe of thyroid glandUBERON:000112045.91gold quality
vastus lateralisUBERON:000137945.48gold quality
thyroid glandUBERON:000204645.43gold quality
upper lobe of left lungUBERON:000895244.28gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ATOH8, DLX2, DNMT1, DNMT3B, EZH2, GATA4, HOXD4, KMT2A, MBD2, NFATC1, NFE2L2, PITX1, SMAD1, SMAD6, SP7, SPI1, STAT2, TCF12, TCF3, TFCP2, ZNF436, ZNF699

miRNA regulators (miRDB)

6 targeting KRT27, 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-4760-3P99.9370.502385
HSA-MIR-548E-5P99.8972.734486
HSA-MIR-449699.8868.892236
HSA-MIR-4799-5P99.8270.602663
HSA-MIR-26A-1-3P99.6466.81788
HSA-MIR-26A-2-3P99.6466.82786

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusKrt27ENSMUSG00000017588
rattus_norvegicusKrt27ENSRNOG00000011628

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 cytoskeletal 27 — Q7Z3Y8 (reviewed: Q7Z3Y8)

Alternative names: Cytokeratin-27, Keratin-25C, Keratin-27, Type I inner root sheath-specific keratin-K25irs3

All UniProt accessions (1): Q7Z3Y8

UniProt curated annotations — full annotation on UniProt →

Function. Essential for the proper assembly of type I and type II keratin protein complexes and formation of keratin intermediate filaments in the inner root sheath (irs).

Subunit / interactions. Heterotetramer of two type I and two type II keratins. Interacts with KRT6A to form filaments.

Subcellular location. Cytoplasm.

Tissue specificity. Strongly expressed in skin and scalp. In the hair follicle, expressed in Henle layer, Huxley layer and in the inner root sheath cuticle of the hair follicle. Expression extends from the bulb region up to the point of differentiation into the three layers. Also present in the medulla of beard hair (at protein level).

Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_853515* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002957Keratin_IFamily
IPR039008IF_rod_domDomain

Pfam: PF00038

UniProt features (16 total): region of interest 8, sequence variant 5, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7Z3Y8-F177.070.54

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: 68 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPIDERMIS_MORPHOGENESIS, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, MARTINEZ_RB1_TARGETS_DN, GOBP_MOLTING_CYCLE, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_SKIN_DEVELOPMENT, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_TISSUE_MORPHOGENESIS, IVANOVA_HEMATOPOIESIS_STEM_CELL_LONG_TERM, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY

GO Biological Process (4): morphogenesis of an epithelium (GO:0002009), epithelial cell differentiation (GO:0030855), hair follicle morphogenesis (GO:0031069), 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): cytosol (GO:0005829), cytoskeleton (GO:0005856), keratin filament (GO:0045095), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), 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
cellular anatomical structure2
tissue morphogenesis1
cell differentiation1
hair follicle development1
anatomical structure morphogenesis1
hair cycle process1
epidermis morphogenesis1
intermediate filament cytoskeleton organization1
supramolecular fiber organization1
structural molecule activity1
molecular_function1
binding1
cytoplasm1
intracellular membraneless organelle1
intermediate filament1
extracellular vesicle1
intracellular anatomical structure1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

938 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRT27KRTAP3-2Q9BYR7543
KRT27KRTAP3-1Q9BYR8535
KRT27KRTAP9-2Q9BYQ4526
KRT27KRTAP4-3Q9BYR4475
KRT27HOXC13P31276428
KRT27DNASE1L2Q92874423
KRT27KRTAP4-16G5E9R7420
KRT27LCE6AA0A183418
KRT27KRTAP7-1Q8IUC3418
KRT27HEPHL1Q6MZM0400
KRT27KRTAP1-5Q9BYS1377
KRT27KRTAP9-3Q9BYQ3369
KRT27ASPRV1Q53RT3354
KRT27GPALPP1Q8IXQ4349
KRT27KRTAP9-8Q9BYQ0348

IntAct

434 interactions, top by confidence:

ABTypeScore
KRT78KRT27psi-mi:“MI:0915”(physical association)0.000
GADD45GIP1KRT27psi-mi:“MI:0915”(physical association)0.000
AMOTKRT27psi-mi:“MI:0915”(physical association)0.000
SUOXKRT27psi-mi:“MI:0915”(physical association)0.000
ICA1LKRT27psi-mi:“MI:0915”(physical association)0.000
PBX3KRT27psi-mi:“MI:0915”(physical association)0.000
TBRG4KRT27psi-mi:“MI:0915”(physical association)0.000
ARHGEF6KRT27psi-mi:“MI:0915”(physical association)0.000
PNNKRT27psi-mi:“MI:0915”(physical association)0.000
CCBE1KRT27psi-mi:“MI:0915”(physical association)0.000
BEX2KRT27psi-mi:“MI:0915”(physical association)0.000
RTP5KRT27psi-mi:“MI:0915”(physical association)0.000
EXOSC5KRT27psi-mi:“MI:0915”(physical association)0.000
CCDC185KRT27psi-mi:“MI:0915”(physical association)0.000
KANK2KRT27psi-mi:“MI:0915”(physical association)0.000
TXLNAKRT27psi-mi:“MI:0915”(physical association)0.000
KRT77KRT27psi-mi:“MI:0915”(physical association)0.000
KRT85KRT27psi-mi:“MI:0915”(physical association)0.000
ZNF3KRT27psi-mi:“MI:0915”(physical association)0.000
ZC3H14KRT27psi-mi:“MI:0915”(physical association)0.000
NTAQ1KRT27psi-mi:“MI:0915”(physical association)0.000
ATP6V1DKRT27psi-mi:“MI:0915”(physical association)0.000
OIP5KRT27psi-mi:“MI:0915”(physical association)0.000
MTMR9KRT27psi-mi:“MI:0915”(physical association)0.000
SMARCD1KRT27psi-mi:“MI:0915”(physical association)0.000
DUSP26KRT27psi-mi:“MI:0915”(physical association)0.000
ZNF80KRT27psi-mi:“MI:0915”(physical association)0.000
JOSD1KRT27psi-mi:“MI:0915”(physical association)0.000
CCNCKRT27psi-mi:“MI:0915”(physical association)0.000

BioGRID (204): KRT27 (Affinity Capture-MS), KRT27 (Affinity Capture-MS), KRT27 (Affinity Capture-MS), KRT27 (Affinity Capture-MS), KRT27 (Affinity Capture-MS), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (Two-hybrid), KRT27 (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 139 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 envelope2326.6×1e-24
Keratinization2316.9×3e-20

GO biological processes:

GO termPartnersFoldFDR
intermediate filament organization2650.9×8e-36
keratinization2140.0×3e-26

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance61
Likely benign4
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

685 predictions. Top by Δscore:

VariantEffectΔscore
17:40777509:A:ACdonor_gain1.0000
17:40777510:C:CCdonor_gain1.0000
17:40777514:CCCAT:Cdonor_gain1.0000
17:40777518:T:Cdonor_gain1.0000
17:40777728:TGTTT:Tacceptor_gain1.0000
17:40777729:GTTT:Gacceptor_gain1.0000
17:40777733:C:CCacceptor_gain1.0000
17:40777750:A:Cacceptor_gain1.0000
17:40779496:GCTTA:Gdonor_loss1.0000
17:40779497:CTTA:Cdonor_loss1.0000
17:40779498:TTA:Tdonor_loss1.0000
17:40779499:TACCG:Tdonor_loss1.0000
17:40779500:A:ACdonor_gain1.0000
17:40779500:A:Tdonor_loss1.0000
17:40779500:AC:Adonor_gain1.0000
17:40779501:C:CGdonor_gain1.0000
17:40779501:CC:Cdonor_gain1.0000
17:40779501:CCG:Cdonor_gain1.0000
17:40779501:CCGTT:Cdonor_gain1.0000
17:40779624:CGCT:Cacceptor_gain1.0000
17:40779626:CT:Cacceptor_gain1.0000
17:40779628:C:CCacceptor_gain1.0000
17:40779694:TTTTA:Tdonor_loss1.0000
17:40779695:TTTA:Tdonor_loss1.0000
17:40779696:TTACC:Tdonor_loss1.0000
17:40779697:TACC:Tdonor_loss1.0000
17:40779699:C:Adonor_loss1.0000
17:40779857:ATTTC:Aacceptor_gain1.0000
17:40779858:TTTC:Tacceptor_gain1.0000
17:40779858:TTTCC:Tacceptor_gain1.0000

AlphaMissense

2994 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
17:40782210:A:GL95S0.996
17:40782213:C:GR94P0.996
17:40782222:A:GL91P0.994
17:40782172:C:GA108P0.993
17:40782180:A:GL105P0.990
17:40777584:A:GL374P0.989
17:40782222:A:TL91H0.988
17:40782219:T:AN92I0.987
17:40777563:A:GL381P0.986
17:40782198:A:GL99P0.986
17:40782208:C:GA96P0.986
17:40779709:G:CF279L0.985
17:40779709:G:TF279L0.985
17:40779711:A:GF279L0.985
17:40779764:C:GR261P0.984
17:40782147:A:GI116T0.984
17:40777635:A:GL357P0.983
17:40777571:C:AK378N0.982
17:40777571:C:GK378N0.982
17:40779723:C:GA275P0.982
17:40781219:C:GA166P0.982
17:40782060:A:GL145P0.982
17:40782214:G:TR94S0.982
17:40782230:C:AM88I0.982
17:40782230:C:GM88I0.982
17:40782230:C:TM88I0.982
17:40779731:C:GR272P0.981
17:40782218:G:CN92K0.980
17:40782218:G:TN92K0.980
17:40779521:A:GL318P0.979

dbSNP variants (sampled 300 via entrez): RS1000484362 (17:40781132 A>G,T), RS1001763237 (17:40776478 T>C), RS1002036857 (17:40783735 T>C), RS1002089338 (17:40783389 A>G), RS1002158169 (17:40783933 T>C), RS1002508337 (17:40777988 A>G), RS1002677223 (17:40778076 A>G), RS1003066252 (17:40779430 T>C,G), RS1004258185 (17:40777901 A>G,T), RS1004281051 (17:40783583 G>A,C), RS1004543869 (17:40783981 T>C,G), RS1004592519 (17:40779622 G>A), RS1005698789 (17:40779080 A>T), RS1005999743 (17:40780570 A>G), RS1006032582 (17:40780314 T>C)

Disease associations

OMIM: gene MIM:616676 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

StudyTraitp-value
GCST009798_41Asthma3.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

ChemicalActions (top 5)PubMed papers
Arsenicincreases methylation, decreases expression, increases abundance2
beauvericinincreases expression, affects cotreatment1
bisphenol Aaffects cotreatment, increases methylation1
sodium arsenatedecreases expression, increases abundance1
CGP 52608affects binding, increases reaction1
enniatinsaffects cotreatment, increases expression1
Arsenic Trioxidedecreases expression1
Fulvestrantaffects cotreatment, increases methylation1
Benzo(a)pyreneaffects methylation1
Tetrachlorodibenzodioxinincreases expression1
Valproic Acidincreases methylation1
Aflatoxin B1increases methylation1
Lactic Aciddecreases 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