◎ Sugi Atlas

Atlas / Gene / KRTAP19-6

KRTAP19-6

gene
On this page

Also known as KAP19.6

Summary

KRTAP19-6 (keratin associated protein 19-6, HGNC:18941) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-6 (Q3LI70). 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 337973 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 12 total
  • MANE Select transcript: NM_181612

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18941
Approved symbolKRTAP19-6
Namekeratin associated protein 19-6
Location21q22.11
Locus typegene with protein product
StatusApproved
AliasesKAP19.6
Ensembl geneENSG00000186925
Ensembl biotypeprotein_coding
Entrez337973

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334046

RefSeq mRNA: 2 — MANE Select: NM_181612 NM_001303120, NM_181612

CCDS: CCDS13598

Canonical transcript exons

ENST00000334046 — 1 exons

ExonStartEnd
ENSE000013385643054153530541864

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 91.95.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047391.95gold quality
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
urinary bladderUBERON:000125528.22silver quality
duodenumUBERON:000211428.14gold quality
lymph nodeUBERON:000002927.57gold quality
leukocyteCL:000073827.45gold quality
monocyteCL:000057627.43gold quality
tonsilUBERON:000237227.05gold quality
islet of LangerhansUBERON:000000626.55gold quality
vermiform appendixUBERON:000115426.42gold quality
bloodUBERON:000017826.35silver quality
gall bladderUBERON:000211025.98gold quality
olfactory segment of nasal mucosaUBERON:000538625.89gold quality
placentaUBERON:000198725.81gold quality
endometriumUBERON:000129525.11gold quality
muscle of legUBERON:000138324.86gold quality
primary visual cortexUBERON:000243624.61gold quality
superior frontal gyrusUBERON:000266124.08gold quality
right lobe of liverUBERON:000111423.66silver quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.40

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting KRTAP19-6, 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-580-3P99.6769.231841
HSA-MIR-516B-5P99.5666.331495
HSA-MIR-4786-3P99.3668.351390
HSA-MIR-224-3P98.9168.421815
HSA-MIR-522-3P98.9168.561817
HSA-MIR-519A-2-5P98.7871.741401
HSA-MIR-520B-5P98.7871.741401
HSA-MIR-6868-3P98.6369.642259
HSA-MIR-1237-3P98.5567.651423
HSA-MIR-4782-5P98.3569.331474
HSA-MIR-7843-3P98.3167.94803
HSA-MIR-4684-5P98.2967.991650
HSA-MIR-432-5P98.0068.13989
HSA-MIR-4653-3P96.2667.03725

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-6 — Q3LI70 (reviewed: Q3LI70)

All UniProt accessions (1): Q3LI70

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 KRTAP type 19 family.

RefSeq proteins (2): NP_001290049, NP_853643* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR021743KRTAP_type8/19/20/21/22Family
IPR051528KRTAP_type_19Family

Pfam: PF11759

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q3LI70-F150.220.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 16 (showing top): chr21q22, TAATTA_CHX10_01, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, HNF4ALPHA_Q6, HSF2_01, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR519A_2_5P_MIR520B_5P, MIR4684_5P, MIR4786_3P, MIR432_5P, MIR7843_3P, RTAAACA_FREAC2_01

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

110 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRTAP19-6KRTAP13-2Q52LG2623
KRTAP19-6KRTAP21-2Q3LI59621
KRTAP19-6KRTAP21-1Q3LI58593
KRTAP19-6KRTAP6-3Q3LI67575
KRTAP19-6LYPD8Q6UX82493
KRTAP19-6KRTAP1-1Q07627396
KRTAP19-6KRT24Q2M2I5380
KRTAP19-6DIRC1Q969H9349
KRTAP19-6SAMD9Q5K651349
KRTAP19-6HBG1P02096322
KRTAP19-6PLEK2Q9NYT0312
KRTAP19-6PLEKP08567311
KRTAP19-6IGFL1Q6UW32291
KRTAP19-6TM4SF4P48230273
KRTAP19-6ERC2O15083268
KRTAP19-6SAMD9LQ8IVG5268

IntAct

203 interactions, top by confidence:

ABTypeScore
OIP5KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6KIFC3psi-mi:“MI:0915”(physical association)0.560
LASP1KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
VGLL3KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6CRY2psi-mi:“MI:0915”(physical association)0.560
SNRPCKRTAP19-6psi-mi:“MI:0915”(physical association)0.560
CYSRT1KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
SNRPBKRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6PLEKHN1psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6DTX2psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6RHOXF2psi-mi:“MI:0915”(physical association)0.560
POU4F2KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6SAXO4psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6CIMIP1psi-mi:“MI:0915”(physical association)0.560
GPANK1KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6NOC4Lpsi-mi:“MI:0915”(physical association)0.560
KRTAP19-6PATZ1psi-mi:“MI:0915”(physical association)0.560
RUNX1T1KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6SLC25A18psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6TSPYL6psi-mi:“MI:0915”(physical association)0.560
CSKMTKRTAP19-6psi-mi:“MI:0915”(physical association)0.560
CREB5KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
INCA1KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
SMN1KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6ENKD1psi-mi:“MI:0915”(physical association)0.560
KRTAP12-4KRTAP19-6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6SPMIP6psi-mi:“MI:0915”(physical association)0.560
KRTAP19-6CCDC24psi-mi:“MI:0915”(physical association)0.560
VENTXKRTAP19-6psi-mi:“MI:0915”(physical association)0.560

BioGRID (78): KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid), KRTAP19-6 (Two-hybrid)

ESM2 similar proteins: H2A0M6, O08632, O08633, O08640, P02448, P04459, P05685, P08826, P25692, P82170, P83358, Q02957, Q02958, Q28580, Q3LHN2, Q3LI54, Q3LI58, Q3LI59, Q3LI60, Q3LI61, Q3LI63, Q3LI64, Q3LI66, Q3LI67, Q3LI68, Q3LI70, Q3LI72, Q3LI73, Q3LI77, Q3MIV0, Q3SYF9, Q4W7G7, Q4W7G8, Q4W7G9, Q4W7H0, Q4W7H1, Q6F4C6, Q6R645, Q7Z4W3, Q8C1I6

Diamond homologs: Q3LI70, Q3LI72, Q3LI73, Q3SYF9, Q7Z4W3, Q8IUB9, O08632, Q3LHN2, Q3LI60, Q925H2, Q925H7, Q925I0, Q99NG9, Q3LI61, Q925H6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 64 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.

GO biological processes:

GO termPartnersFoldFDR
flagellated sperm motility613.0×1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance12
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

93 predictions. Top by Δscore:

VariantEffectΔscore
21:30541775:C:CTdonor_gain0.8800
21:30541776:C:CTdonor_gain0.8300
21:30541741:T:Cdonor_gain0.8100
21:30541816:G:Cdonor_gain0.8100
21:30541802:AGG:Adonor_gain0.7400
21:30541680:AT:Adonor_gain0.7100
21:30541685:T:TAdonor_gain0.6900
21:30541828:T:Cdonor_gain0.6900
21:30541662:AGAAT:Adonor_gain0.6800
21:30541681:T:TAdonor_gain0.6800
21:30541781:AAG:Adonor_gain0.6800
21:30541786:T:TAdonor_gain0.6500
21:30541797:AT:Adonor_gain0.6500
21:30541685:TC:Tdonor_gain0.6400
21:30541714:T:Cdonor_gain0.6400
21:30541723:T:TAdonor_gain0.5900
21:30541797:ATC:Adonor_gain0.5900
21:30541798:T:Cdonor_gain0.5900
21:30541681:T:Cdonor_gain0.5800
21:30541666:T:TAdonor_gain0.5600
21:30541648:G:Cdonor_gain0.5500
21:30541746:AG:Adonor_gain0.5300
21:30541680:ATC:Adonor_gain0.5200
21:30541717:ATAG:Adonor_gain0.5200
21:30541719:AG:Adonor_gain0.5000
21:30541613:A:ACdonor_gain0.4700
21:30541614:C:CCdonor_gain0.4700
21:30541659:A:ACdonor_gain0.4700
21:30541625:T:TGacceptor_gain0.4600
21:30541611:A:Cacceptor_gain0.4500

AlphaMissense

346 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
21:30541672:G:CF54L0.779
21:30541672:G:TF54L0.779
21:30541674:A:GF54L0.779
21:30541780:A:CF18L0.765
21:30541780:A:TF18L0.765
21:30541782:A:GF18L0.765
21:30541663:G:CF57L0.749
21:30541663:G:TF57L0.749
21:30541665:A:GF57L0.749

dbSNP variants (sampled 300 via entrez): RS1000612415 (21:30542379 G>A), RS1001038971 (21:30542689 C>T), RS1001179437 (21:30541298 G>A), RS1001462502 (21:30541530 G>A), RS1002287121 (21:30542167 T>C), RS1003522572 (21:30542688 T>C), RS1003807001 (21:30543004 C>T), RS1005481227 (21:30541918 A>T), RS1006719912 (21:30541089 A>G), RS1007182233 (21:30543123 C>T), RS1008708147 (21:30543752 G>A), RS1010876248 (21:30543328 T>G), RS1012418313 (21:30541988 G>A), RS1016449016 (21:30542316 T>C), RS1017150968 (21:30541518 A>AT)

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

1 total (human), top 1 by PubMed support.

ChemicalActions (top 5)PubMed papers
Benzo(a)pyrenedecreases 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