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Atlas / Gene / KRTAP15-1

KRTAP15-1

gene
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Also known as KAP15.1

Summary

KRTAP15-1 (keratin associated protein 15-1, HGNC:18927) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 15-1 (Q3LI76). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-link….

Predicted to be located in cytosol.

Source: NCBI Gene 254950 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 19 total
  • MANE Select transcript: NM_181623

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18927
Approved symbolKRTAP15-1
Namekeratin associated protein 15-1
Location21q22.11
Locus typegene with protein product
StatusApproved
AliasesKAP15.1
Ensembl geneENSG00000186970
Ensembl biotypeprotein_coding
Entrez254950

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334067

RefSeq mRNA: 1 — MANE Select: NM_181623 NM_181623

CCDS: CCDS13593

Canonical transcript exons

ENST00000334067 — 1 exons

ExonStartEnd
ENSE000013385713044027530440869

Expression profiles

Bgee: expression breadth tissue_specific, 1 present calls, max score 37.20.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
colonic epitheliumUBERON:000039737.20gold quality
ventricular zoneUBERON:000305336.48gold quality
cortical plateUBERON:000534336.47gold quality
bone marrow cellCL:000209236.16gold quality
ganglionic eminenceUBERON:000402335.49gold quality
skeletal muscle tissueUBERON:000113433.38gold quality
hindlimb stylopod muscleUBERON:000425232.15gold quality
bone marrowUBERON:000237131.74gold quality
muscle tissueUBERON:000238531.06gold quality
sural nerveUBERON:001548830.93gold quality
stromal cell of endometriumCL:000225529.87gold quality
prefrontal cortexUBERON:000045129.04gold quality
liverUBERON:000210728.37gold quality
duodenumUBERON:000211428.14gold quality
olfactory segment of nasal mucosaUBERON:000538627.86silver quality
lymph nodeUBERON:000002927.57gold quality
tonsilUBERON:000237227.05gold quality
urinary bladderUBERON:000125526.96gold quality
islet of LangerhansUBERON:000000626.55gold quality
vermiform appendixUBERON:000115426.42gold quality
bloodUBERON:000017826.20gold quality
gall bladderUBERON:000211025.98gold quality
placentaUBERON:000198725.81gold quality
leukocyteCL:000073825.73gold quality
monocyteCL:000057625.54gold quality
muscle of legUBERON:000138324.74gold quality
primary visual cortexUBERON:000243624.61gold quality
superior frontal gyrusUBERON:000266124.08gold quality
pancreasUBERON:000126424.04gold quality
frontal cortexUBERON:000187023.98gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no2.13

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

OrganismSymbolGene ID
mus_musculusKrtap15-1ENSMUSG00000022931

Paralogs (8): KRTAP11-1 (ENSG00000182591), KRTAP13-2 (ENSG00000182816), KRTAP13-4 (ENSG00000186971), KRTAP26-1 (ENSG00000197683), KRTAP13-1 (ENSG00000198390), KRTAP27-1 (ENSG00000206107), KRTAP25-1 (ENSG00000232263), KRTAP13-3 (ENSG00000240432)

Protein

Protein identifiers

Keratin-associated protein 15-1 — Q3LI76 (reviewed: Q3LI76)

All UniProt accessions (1): Q3LI76

UniProt curated annotations — full annotation on UniProt →

Function. In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated proteins (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linking with abundant cysteine residues of hair keratins. The matrix proteins include the high-sulfur and high-glycine-tyrosine keratins.

Subunit / interactions. Interacts with hair keratins.

Similarity. Belongs to the PMG family.

RefSeq proteins (1): NP_853654* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR007951KRTAP_PMGFamily

Pfam: PF05287

UniProt features (2 total): chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q3LI76-F150.140.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

IDPathway
R-HSA-6805567Keratinization
R-HSA-1266738Developmental Biology

MSigDB gene sets: 39 (showing top): TCF4_Q5, MARTINEZ_RB1_TARGETS_DN, WTGAAAT_UNKNOWN, OCT1_06, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, GSE17721_POLYIC_VS_PAM3CSK4_0.5H_BMDC_UP, MARTINEZ_RB1_AND_TP53_TARGETS_DN, GSE17721_LPS_VS_PAM3CSK4_0.5H_BMDC_DN, GSE17721_POLYIC_VS_CPG_0.5H_BMDC_UP, WP_HAIR_FOLLICLE_DEVELOPMENT_CYTODIFFERENTIATION_STAGE_3_OF_3

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), intermediate filament (GO:0005882)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Developmental Biology1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
binding1
cytoplasm1
cellular anatomical structure1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

248 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRTAP15-1KRTAP20-1Q3LI63883
KRTAP15-1KRTAP24-1Q3LI83857
KRTAP15-1KRTAP22-1Q3MIV0849
KRTAP15-1KRTAP20-2Q3LI61840
KRTAP15-1SCYGR1A0A286YEY9799
KRTAP15-1KRTAP26-1Q6PEX3773
KRTAP15-1KRTAP27-1Q3LI81772
KRTAP15-1KRTAP7-1Q8IUC3767
KRTAP15-1KRTAP6-3Q3LI67761
KRTAP15-1KRTAP8-1Q8IUC2760
KRTAP15-1KRTAP11-1Q8IUC1725
KRTAP15-1KRTAP6-1Q3LI64720
KRTAP15-1KRTAP6-2Q3LI66720
KRTAP15-1KRTAP3-1Q9BYR8666
KRTAP15-1KRTAP21-2Q3LI59621

IntAct

237 interactions, top by confidence:

ABTypeScore
KRTAP15-1OTX1psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1DAZAP2psi-mi:“MI:0915”(physical association)0.560
OTX1KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
DAZAP2KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
HOXA1KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1RBPMSpsi-mi:“MI:0915”(physical association)0.560
KRTAP15-1CAMK2Apsi-mi:“MI:0915”(physical association)0.560
GEMIN4KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
VAC14KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1ATN1psi-mi:“MI:0915”(physical association)0.560
CYSRT1KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1KRTAP9-2psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1UBAP2psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1KRTAP3-3psi-mi:“MI:0915”(physical association)0.560
VPS37CKRTAP15-1psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1RHOXF2psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1KRTAP5-11psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1SPAG8psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1PATZ1psi-mi:“MI:0915”(physical association)0.560
RIN1KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
ZBTB32KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
VGLL3KRTAP15-1psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1C10orf55psi-mi:“MI:0915”(physical association)0.560
KRTAP15-1SMUG1psi-mi:“MI:0915”(physical association)0.560

BioGRID (81): KRTAP15-1 (Affinity Capture-MS), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid), KRTAP15-1 (Two-hybrid)

ESM2 similar proteins: A8MUX0, O08640, O13152, O93499, O93500, P02438, P02439, P02440, P02448, P02449, P02450, P02451, P04458, P04459, P07521, P08131, P08335, P20307, P20308, P25692, P60329, Q05B44, Q24JX9, Q28580, Q3LI76, Q3LI77, Q3LI83, Q3SY46, Q4W7G7, Q4W7G8, Q4W7G9, Q4W7H0, Q4W7H1, Q52LG2, Q6PEX3, Q6R645, Q6R648, Q8IUC0, Q8IUC1, Q8IUC3

Diamond homologs: O08640, Q3LI76, Q3LI77, Q3SY46, Q4W7G7, Q4W7G8, Q4W7G9, Q4W7H0, Q4W7H1, Q52LG2, Q6R645, Q8IUC0, Q9QZU5, A1A580, Q8IUC1, A8MUX0, Q6R648

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 71 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
Keratinization1521.4×1e-14

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance18
Likely benign1
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

318 predictions. Top by Δscore:

VariantEffectΔscore
21:30440472:A:AGacceptor_gain0.9400
21:30440472:AAT:Aacceptor_gain0.9300
21:30440474:T:TAacceptor_gain0.9200
21:30440472:AATG:Aacceptor_gain0.8700
21:30440473:A:Gacceptor_gain0.8600
21:30440470:ACAAT:Aacceptor_gain0.8500
21:30440374:G:GTdonor_gain0.8200
21:30440384:G:GTdonor_gain0.7800
21:30440374:G:Tdonor_gain0.7700
21:30440382:CTGAG:Cdonor_loss0.7700
21:30440384:GAGGT:Gdonor_loss0.7700
21:30440385:AGG:Adonor_loss0.7700
21:30440387:GT:Gdonor_loss0.7700
21:30440388:T:Adonor_loss0.7700
21:30440817:AT:Aacceptor_gain0.7300
21:30440818:T:Gacceptor_gain0.7300
21:30440475:G:Aacceptor_gain0.7200
21:30440614:G:GTdonor_gain0.7200
21:30440818:T:TAacceptor_gain0.7100
21:30440799:T:Gacceptor_gain0.6900
21:30440812:A:AGacceptor_gain0.6900
21:30440471:C:Gacceptor_gain0.6500
21:30440650:G:GTdonor_gain0.6500
21:30440601:A:AGdonor_gain0.6400
21:30440717:G:GTdonor_gain0.6400
21:30440817:ATG:Aacceptor_gain0.6400
21:30440421:A:AGacceptor_gain0.6300
21:30440422:G:GGacceptor_gain0.6300
21:30440422:GCA:Gacceptor_gain0.6300
21:30440455:T:Aacceptor_gain0.6300

AlphaMissense

889 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
21:30440661:T:CF112L0.666
21:30440663:C:AF112L0.666
21:30440663:C:GF112L0.666
21:30440688:T:CF121L0.625
21:30440690:C:AF121L0.625
21:30440690:C:GF121L0.625
21:30440355:T:CF10L0.596
21:30440357:C:AF10L0.596
21:30440357:C:GF10L0.596

dbSNP variants (sampled 300 via entrez): RS1001438976 (21:30440658 G>A), RS1001910676 (21:30439306 G>A), RS1002004320 (21:30439519 A>T), RS1002267607 (21:30439119 G>A), RS1002849374 (21:30439634 G>A), RS1004694920 (21:30440345 C>T), RS1004788504 (21:30440126 T>A,C,G), RS1005905724 (21:30438992 T>C), RS1005978272 (21:30440336 C>A), RS1006581838 (21:30438717 G>A), RS1006909125 (21:30438607 G>A), RS1007044913 (21:30438344 A>G), RS1008585882 (21:30439852 C>T), RS1010429423 (21:30438314 G>A,T), RS1010655339 (21:30440641 T>C)

Disease associations

OMIM: gene `` | 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

3 total (human), top 3 by PubMed support.

ChemicalActions (top 5)PubMed papers
CGP 52608affects binding, increases reaction1
Benzo(a)pyreneaffects methylation, decreases methylation1
Polychlorinated Biphenylsaffects 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