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Atlas / Gene / KRTAP19-7

KRTAP19-7

gene
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Also known as KAP19.7

Summary

KRTAP19-7 (keratin associated protein 19-7, HGNC:18942) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-7 (Q3SYF9). 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 337974 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 11 total
  • MANE Select transcript: NM_181614

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:18942
Approved symbolKRTAP19-7
Namekeratin associated protein 19-7
Location21q22.11
Locus typegene with protein product
StatusApproved
AliasesKAP19.7
Ensembl geneENSG00000244362
Ensembl biotypeprotein_coding
Entrez337974

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334849

RefSeq mRNA: 1 — MANE Select: NM_181614 NM_181614

CCDS: CCDS13599

Canonical transcript exons

ENST00000334849 — 1 exons

ExonStartEnd
ENSE000013379153056087530561314

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 85.32.

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.32gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099174.49gold 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
duodenumUBERON:000211428.14gold quality
monocyteCL:000057627.82silver quality
leukocyteCL:000073827.80silver quality
lymph nodeUBERON:000002927.57gold quality
urinary bladderUBERON:000125527.32gold quality
tonsilUBERON:000237227.05gold quality
islet of LangerhansUBERON:000000626.55gold quality
vermiform appendixUBERON:000115426.42gold quality
right atrium auricular regionUBERON:000663126.14gold quality
gall bladderUBERON:000211025.98gold quality
olfactory segment of nasal mucosaUBERON:000538625.89gold quality
bloodUBERON:000017825.81gold quality
placentaUBERON:000198725.81gold quality
muscle of legUBERON:000138325.04gold quality
skin of abdomenUBERON:000141624.91gold quality
heartUBERON:000094824.66silver quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no0.48

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-7 — Q3SYF9 (reviewed: Q3SYF9)

All UniProt accessions (1): Q3SYF9

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 (1): NP_853645* (*=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-Q3SYF9-F150.310.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

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

MSigDB gene sets: 16 (showing top): chr21q22, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, TBPL1_TARGET_GENES, NOTCH3_TARGET_GENES, GSE9946_IMMATURE_VS_PROSTAGLANDINE2_TREATED_MATURE_DC_DN, GSE9946_MATURE_STIMULATORY_VS_PROSTAGLANDINE2_TREATED_MATURE_DC_DN, GSE7459_UNTREATED_VS_IL6_TREATED_ACT_CD4_TCELL_DN, YCATTAA_UNKNOWN, GSE3720_UNSTIM_VS_PMA_STIM_VD1_GAMMADELTA_TCELL_DN, GSE5589_WT_VS_IL10_KO_LPS_AND_IL10_STIM_MACROPHAGE_180MIN_DN

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

190 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
KRTAP19-7OR6X1Q8NH79582
KRTAP19-7OR13J1Q8NGT2581
KRTAP19-7FAM181AQ8N9Y4507
KRTAP19-7ZNF781Q8N8C0507
KRTAP19-7PHETA1Q8N4B1474
KRTAP19-7KIF25Q9UIL4433
KRTAP19-7MTFR2Q6P444431
KRTAP19-7FTHL17Q9BXU8419
KRTAP19-7ZNF568Q3ZCX4398
KRTAP19-7ZFP64Q9NTW7396
KRTAP19-7EFR3AQ14156396
KRTAP19-7UNC79Q9P2D8392
KRTAP19-7KRT84Q9NSB2392
KRTAP19-7TGM7Q96PF1370
KRTAP19-7RRP8O43159367

IntAct

299 interactions, top by confidence:

ABTypeScore
VAC14KRTAP19-7psi-mi:“MI:0915”(physical association)0.720
RHOXF2KRTAP19-7psi-mi:“MI:0915”(physical association)0.720
KRTAP19-7VAC14psi-mi:“MI:0915”(physical association)0.720
SMN1KRTAP19-7psi-mi:“MI:0915”(physical association)0.720
KRTAP19-7RHOXF2psi-mi:“MI:0915”(physical association)0.720
DAB1KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
KRTAP19-7CAMK2Bpsi-mi:“MI:0915”(physical association)0.560
RBPMSKRTAP19-7psi-mi:“MI:0915”(physical association)0.560
CAMK2BKRTAP19-7psi-mi:“MI:0915”(physical association)0.560
KRTAP19-7DAB1psi-mi:“MI:0915”(physical association)0.560
KRTAP19-7RBPMSpsi-mi:“MI:0915”(physical association)0.560
TCF7L2KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
ANKS1AKRTAP19-7psi-mi:“MI:0915”(physical association)0.560
PLSCR4KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
KRTAP10-8KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
ROR2KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
MAPK1IP1LKRTAP19-7psi-mi:“MI:0915”(physical association)0.560
TPRX1KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
TNIP1KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
KRTAP12-4KRTAP19-7psi-mi:“MI:0915”(physical association)0.560
NOTOKRTAP19-7psi-mi:“MI:0915”(physical association)0.560
KRTAP12-3KRTAP19-7psi-mi:“MI:0915”(physical association)0.560

BioGRID (119): KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (Two-hybrid), KRTAP19-7 (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: Q3LI54, Q3SYF9, Q925H7, Q3LI61, Q3LI63, Q3LI72, Q3LI70, Q3LI73, Q7Z4W3, Q8IUB9, O08632, Q3LHN2, Q3LI60, Q925H2, Q925I0, Q99NG9, Q925H6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 80 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
Keratinization810.1×2e-04

GO biological processes:

GO termPartnersFoldFDR
anatomical structure morphogenesis611.8×2e-03
central nervous system development69.8×4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance9
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

90 predictions. Top by Δscore:

VariantEffectΔscore
21:30561155:T:Cdonor_gain0.9800
21:30561121:ATCCC:Adonor_gain0.9600
21:30561131:G:Cdonor_gain0.9600
21:30561206:T:TAdonor_gain0.9300
21:30561258:AGG:Adonor_gain0.9300
21:30561121:ATCC:Adonor_gain0.9200
21:30561231:C:CTdonor_gain0.9200
21:30561149:G:Cdonor_gain0.9100
21:30561067:T:TAdonor_gain0.9000
21:30561160:AG:Adonor_gain0.8900
21:30561164:T:TAdonor_gain0.8700
21:30561232:C:CTdonor_gain0.8600
21:30561121:ATC:Adonor_gain0.8500
21:30561125:C:CAdonor_gain0.8400
21:30561182:G:Cdonor_gain0.8200
21:30561181:AG:Adonor_gain0.8000
21:30561253:AG:Adonor_gain0.8000
21:30561130:AG:Adonor_gain0.7700
21:30561181:AGC:Adonor_gain0.7700
21:30561239:T:TAdonor_gain0.7700
21:30561263:T:TAdonor_gain0.7700
21:30561237:AAT:Adonor_gain0.7600
21:30561096:A:ACdonor_gain0.7400
21:30561121:AT:Adonor_gain0.7400
21:30561242:T:TAdonor_gain0.7400
21:30561272:G:Cdonor_gain0.7300
21:30561071:A:ACdonor_gain0.7200
21:30561072:C:CCdonor_gain0.7200
21:30561073:A:Cdonor_gain0.7200
21:30561123:C:Adonor_gain0.7000

AlphaMissense

386 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
21:30561194:G:CF32L0.801
21:30561194:G:TF32L0.801
21:30561196:A:GF32L0.801
21:30561236:G:CF18L0.795
21:30561236:G:TF18L0.795
21:30561238:A:GF18L0.795
21:30561104:G:CF62L0.760
21:30561104:G:TF62L0.760
21:30561106:A:GF62L0.760
21:30561197:G:CS31R0.596
21:30561197:G:TS31R0.596
21:30561199:T:GS31R0.596
21:30561103:A:CY63D0.571

dbSNP variants (sampled 300 via entrez): RS1000198847 (21:30560616 AAAG>A), RS1001399233 (21:30562366 A>G), RS1002267942 (21:30561967 A>C), RS1002958898 (21:30560461 T>A), RS1004700291 (21:30563310 A>G), RS1006311663 (21:30563276 G>A), RS1007113763 (21:30561558 A>G), RS1008822455 (21:30562513 G>A), RS1009078175 (21:30561155 T>C,G), RS1009201590 (21:30562886 A>G), RS1010115901 (21:30562385 A>G), RS1010465866 (21:30560983 G>A), RS1010498113 (21:30562707 G>A,C), RS1012362904 (21:30561789 A>T), RS1012642713 (21:30560664 G>A)

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
bisphenol Faffects cotreatment, decreases methylation1
hydroxyhydroquinoneincreases expression1
Fulvestrantaffects cotreatment, decreases methylation1
Benzo(a)pyrenedecreases methylation1
Endosulfandecreases expression1
Rotenoneincreases 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