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Atlas / Gene / KRTAP10-6

KRTAP10-6

gene
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Also known as KRTAP18.6KAP18.6KAP10.6

Summary

KRTAP10-6 (keratin associated protein 10-6, HGNC:20523) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-6 (P60371). 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 386674 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 76 total
  • MANE Select transcript: NM_198688

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20523
Approved symbolKRTAP10-6
Namekeratin associated protein 10-6
Location21q22.3
Locus typegene with protein product
StatusApproved
AliasesKRTAP18.6, KAP18.6, KAP10.6
Ensembl geneENSG00000188155
Ensembl biotypeprotein_coding
Entrez386674

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000400368

RefSeq mRNA: 1 — MANE Select: NM_198688 NM_198688

CCDS: CCDS42959

Canonical transcript exons

ENST00000400368 — 1 exons

ExonStartEnd
ENSE000015426154459126844592505

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 37.20.

Top tissues by expression

124 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
sural nerveUBERON:001548836.18gold 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
skin of abdomenUBERON:000141630.70gold quality
stromal cell of endometriumCL:000225529.87gold quality
zone of skinUBERON:000001429.30gold quality
prefrontal cortexUBERON:000045129.22gold quality
bloodUBERON:000017829.17gold quality
lymph nodeUBERON:000002928.85gold quality
skin of legUBERON:000151128.41gold quality
duodenumUBERON:000211428.14gold quality
cortex of kidneyUBERON:000122527.40gold quality
tonsilUBERON:000237227.05gold quality
islet of LangerhansUBERON:000000626.55gold quality
vermiform appendixUBERON:000115426.42gold quality
gall bladderUBERON:000211025.98gold quality
olfactory segment of nasal mucosaUBERON:000538625.89gold quality
placentaUBERON:000198725.81gold quality
muscle of legUBERON:000138325.46gold quality
leukocyteCL:000073824.80gold quality
pancreasUBERON:000126424.72gold quality
kidneyUBERON:000211324.69silver quality
right lungUBERON:000216724.63gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

5 targeting KRTAP10-6, 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-7162-3P99.8968.161682
HSA-MIR-1211999.8768.351653
HSA-MIR-4649-3P99.5666.901783
HSA-MIR-486-3P99.5166.821901
HSA-MIR-318299.4068.152454

Cross-species orthologs

36 orthologs

OrganismSymbolGene ID
mus_musculusKrtap5-2ENSMUSG00000054759
mus_musculusKrtap5-20ENSMUSG00000056885
mus_musculusKrtap10-4ENSMUSG00000069582
mus_musculusKrtap12-1ENSMUSG00000069583
mus_musculusKrtap12-23ENSMUSG00000069584
mus_musculusKrtap10-31ENSMUSG00000071195
mus_musculusKrtap12-22ENSMUSG00000094012
mus_musculusKrtap10-21ENSMUSG00000094120
mus_musculusKrtap12-21ENSMUSG00000094146
mus_musculusKrtap10-27ENSMUSG00000094913
mus_musculusKrtap10-26ENSMUSG00000095593
mus_musculusKrtap10-25ENSMUSG00000095721
mus_musculusKrtap10-22ENSMUSG00000095817
mus_musculusKrtap10-33ENSMUSG00000095970
mus_musculusKrtap10-29ENSMUSG00000096131
mus_musculusKrtap10-34ENSMUSG00000096380
mus_musculusKrtap12-20ENSMUSG00000096421
mus_musculusKrtap10-23ENSMUSG00000096481
mus_musculusKrtap5-26ENSMUSG00000109859
mus_musculusKrtap5-24ENSMUSG00000110324
mus_musculusKrtap10-24ENSMUSG00000111915
mus_musculusKrtap10-28ENSMUSG00000112170
mus_musculusKrtap10-10ENSMUSG00000112223
mus_musculusKrtap10-30ENSMUSG00000112380
mus_musculusGm49918ENSMUSG00000112600
mus_musculusKrtap10-35ENSMUSG00000112653
mus_musculusKrtap10-32ENSMUSG00000112864
rattus_norvegicusKrtap10-8l1ENSRNOG00000001218
rattus_norvegicusKrtap5-8ENSRNOG00000020131
rattus_norvegicusKrtap10-10ENSRNOG00000032530
rattus_norvegicusKrtap10-9ENSRNOG00000043302
rattus_norvegicusKrtap10-1l1ENSRNOG00000046538
rattus_norvegicusAABR07006049.1ENSRNOG00000046649
rattus_norvegicusKrtap10-1ENSRNOG00000047532
rattus_norvegicusLOC120098854ENSRNOG00000067436
rattus_norvegicusKrtap10-10l2ENSRNOG00000069553

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-8 (ENSG00000187766), KRTAP1-1 (ENSG00000188581), KRTAP10-12 (ENSG00000189169), KRTAP4-3 (ENSG00000196156), KRTAP9-9 (ENSG00000198083), KRTAP4-6 (ENSG00000198090), KRTAP4-5 (ENSG00000198271), KRTAP4-1 (ENSG00000198443), KRTAP9-3 (ENSG00000204873), KRTAP4-8 (ENSG00000204880), KRTAP1-4 (ENSG00000204887), KRTAP12-3 (ENSG00000205439), KRTAP10-2 (ENSG00000205445), KRTAP5-6 (ENSG00000205864), KRTAP5-2 (ENSG00000205867), KRTAP16-1 (ENSG00000212657), KRTAP9-6 (ENSG00000212659), KRTAP4-11 (ENSG00000212721), KRTAP4-9 (ENSG00000212722), KRTAP2-3 (ENSG00000212724), KRTAP2-1 (ENSG00000212725), KRTAP10-3 (ENSG00000212935), KRTAP4-12 (ENSG00000213416), KRTAP2-4 (ENSG00000213417), KRTAP2-2 (ENSG00000214518), KRTAP10-4 (ENSG00000215454), KRTAP10-1 (ENSG00000215455), KRTAP10-9 (ENSG00000221837), KRTAP1-5 (ENSG00000221852), KRTAP10-10 (ENSG00000221859), KRTAP12-2 (ENSG00000221864), KRTAP1-3 (ENSG00000221880), KRTAP9-2 (ENSG00000239886), KRTAP9-1 (ENSG00000240542), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 10-6 — P60371 (reviewed: P60371)

Alternative names: High sulfur keratin-associated protein 10.6, Keratin-associated protein 10.6, Keratin-associated protein 18-6, Keratin-associated protein 18.6

All UniProt accessions (1): P60371

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.

Tissue specificity. Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

Similarity. Belongs to the KRTAP type 10 family.

RefSeq proteins (1): NP_941961* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR002494KAPFamily

Pfam: PF13885

UniProt features (36 total): repeat 29, sequence variant 5, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P60371-F135.690.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 7 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER

GO Biological Process (0):

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

GO Cellular Component (3): cytosol (GO:0005829), keratin filament (GO:0045095), 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 filament1
intermediate filament cytoskeleton1
polymeric cytoskeletal fiber1

Protein interactions and networks

STRING

124 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRTAP10-6CIMAP1CQ8IXM7582
KRTAP10-6ANKRD36BQ8N2N9480
KRTAP10-6OR8U1Q8NH10478
KRTAP10-6DNHD1Q96M86446
KRTAP10-6CDC42BPGQ6DT37419
KRTAP10-6NUTM2AQ8IVF1418
KRTAP10-6FEZ2Q9UHY8398
KRTAP10-6USB1Q9BQ65376
KRTAP10-6RSPH6AQ9H0K4369
KRTAP10-6DEDD2Q8WXF8366
KRTAP10-6LRFN5Q96NI6359
KRTAP10-6AKR7A3O95154352
KRTAP10-6OR11L1Q8NGX0348
KRTAP10-6IPO4Q8TEX9322
KRTAP10-6KCNS1Q96KK3322

IntAct

224 interactions, top by confidence:

ABTypeScore
KRTAP10-6ZNF679psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ZNF319psi-mi:“MI:0915”(physical association)0.560
ZBTB24KRTAP10-6psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6PIN1psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ZNF490psi-mi:“MI:0915”(physical association)0.560
MT1BKRTAP10-6psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6DHX57psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6MFSD3psi-mi:“MI:0915”(physical association)0.560
NMUKRTAP10-6psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6LCE1Epsi-mi:“MI:0915”(physical association)0.560
ZNF264KRTAP10-6psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ADAMTSL3psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6AVPI1psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ZNF669psi-mi:“MI:0915”(physical association)0.560
HAND1KRTAP10-6psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ZNF169psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6KIF9psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ZNF479psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6KRTAP5-2psi-mi:“MI:0915”(physical association)0.560
ZNHIT1KRTAP10-6psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6VASNpsi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ZNF774psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6LCE1Fpsi-mi:“MI:0915”(physical association)0.560
KRTAP10-6LCE2Dpsi-mi:“MI:0915”(physical association)0.560
KRTAP10-6NKD1psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6ZNF563psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6DKK2psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6KRTAP4-4psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6CLK4psi-mi:“MI:0915”(physical association)0.560
KRTAP10-6NAXDpsi-mi:“MI:0915”(physical association)0.560

BioGRID (87): KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid), KRTAP10-6 (Two-hybrid)

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, O75690, P02438, P02441, P02442, P02443, P08131, P0C7H8, P26371, P59990, P59991, P60014, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q6L8G8, Q6L8G9, Q6L8H2, Q701N4, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0, Q9BYQ2

Diamond homologs: A6QP35, P60371, P60372, P60409, P60410, P60413, P60014, P60331, P60368, P60369, P60370, P60411, P60412

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 73 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
Keratinization1414.4×1e-11
Formation of the cornified envelope711.4×5e-05

GO biological processes:

GO termPartnersFoldFDR
keratinization725.6×1e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance64
Likely benign12
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

326 predictions. Top by Δscore:

VariantEffectΔscore
21:44592443:G:Cdonor_gain0.8900
21:44592360:CAG:Cdonor_gain0.8700
21:44592388:G:Adonor_gain0.8300
21:44592381:TCC:Tdonor_gain0.8200
21:44592383:C:CTdonor_gain0.8200
21:44592382:C:CTdonor_gain0.8100
21:44592359:A:ACdonor_gain0.8000
21:44592360:C:CCdonor_gain0.8000
21:44592306:A:ACdonor_gain0.7900
21:44592307:C:CCdonor_gain0.7900
21:44591548:TGC:Tdonor_gain0.6900
21:44591726:CTG:Cacceptor_gain0.6900
21:44592378:TCGTC:Tdonor_gain0.6700
21:44592379:CGTCC:Cdonor_gain0.6700
21:44591549:G:Adonor_gain0.6600
21:44591807:CTG:Cacceptor_gain0.6600
21:44591950:CACAG:Cdonor_gain0.6400
21:44591810:C:CCacceptor_gain0.6300
21:44591814:C:CTacceptor_gain0.6300
21:44591547:TTG:Tdonor_gain0.6200
21:44591815:A:Tacceptor_gain0.6200
21:44591449:G:Tacceptor_gain0.5900
21:44592407:G:Cdonor_gain0.5700
21:44592497:C:CCacceptor_gain0.5700
21:44591548:TGCAC:Tdonor_gain0.5600
21:44591721:CTAGA:Cacceptor_gain0.5600
21:44592380:GTC:Gdonor_gain0.5500
21:44591734:A:Tacceptor_gain0.5400
21:44592058:A:ACdonor_gain0.5300
21:44592059:C:CCdonor_gain0.5300

AlphaMissense

2371 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
21:44592389:C:AW32C0.833
21:44592389:C:GW32C0.833
21:44592391:A:GW32R0.731
21:44592391:A:TW32R0.731
21:44592365:G:CS40R0.675
21:44592365:G:TS40R0.675
21:44592367:T:GS40R0.675
21:44592443:G:CS14R0.608
21:44592443:G:TS14R0.608
21:44592445:T:GS14R0.608
21:44592376:A:GC37R0.582
21:44592460:A:GC9R0.576
21:44592374:G:CC37W0.565

dbSNP variants (sampled 300 via entrez): RS1000206405 (21:44592790 C>G,T), RS1000483021 (21:44592655 C>G), RS1003306803 (21:44594433 G>T), RS1003338088 (21:44594148 C>T), RS1004335823 (21:44591296 A>G), RS1005960372 (21:44593272 T>C), RS1007523653 (21:44593627 C>T), RS1009518702 (21:44594108 C>A,T), RS1009795151 (21:44593802 T>A,C), RS1010939741 (21:44593027 T>G), RS1012995161 (21:44594470 T>C), RS1015626206 (21:44591149 T>A,C), RS1016006773 (21:44591298 G>T), RS1016301013 (21:44594235 G>A), RS1016766543 (21:44594478 C>T)

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

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneaffects methylation, decreases methylation, increases methylation2
CGP 52608increases reaction, affects binding1
Resveratrolaffects cotreatment, decreases expression1
Plant Extractsaffects cotreatment, decreases expression1
Valproic Acidincreases methylation1
Aflatoxin B1increases 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