KRTAP19-5

Summary

KRTAP19-5 (keratin associated protein 19-5, HGNC:18940) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-5 (Q3LI72). 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 337972 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_181611

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18940
Approved symbol	KRTAP19-5
Name	keratin associated protein 19-5
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP19.5
Ensembl gene	ENSG00000186977
Ensembl biotype	protein_coding
Entrez	337972

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334151

RefSeq mRNA: 1 — MANE Select: NM_181611 NM_181611

CCDS: CCDS13597

Canonical transcript exons

ENST00000334151 — 1 exons

Exon	Start	End
ENSE00001338619	30501657	30502141

Expression profiles

Bgee: expression breadth broad, 33 present calls, max score 85.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1969 / max 66.9101, expressed in 25 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190127	0.1969	25

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.40	gold quality
sural nerve	UBERON:0015488	42.89	silver quality
granulocyte	CL:0000094	42.33	silver quality
bone marrow cell	CL:0002092	38.79	gold quality
skin of abdomen	UBERON:0001416	38.16	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
right lung	UBERON:0002167	37.12	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
zone of skin	UBERON:0000014	36.09	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skin of leg	UBERON:0001511	34.77	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
bone marrow	UBERON:0002371	33.09	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
liver	UBERON:0002107	29.99	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.27	silver quality
leukocyte	CL:0000738	28.63	silver quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.90	silver quality
lymph node	UBERON:0000029	27.57	gold quality
right lobe of liver	UBERON:0001114	27.41	silver quality
tonsil	UBERON:0002372	27.05	gold quality
muscle of leg	UBERON:0001383	26.92	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gastrocnemius	UBERON:0001388	26.16	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.99

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The KRTAP19-5 promoter is activated by Trichostatin A (TSA) treatment and by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-5 — Q3LI72 (reviewed: Q3LI72)

All UniProt accessions (1): Q3LI72

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_853642* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021743	KRTAP_type8/19/20/21/22	Family
IPR051528	KRTAP_type_19	Family

Pfam: PF11759

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3LI72-F1	49.63	0.00

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 38 (showing top): MARTINEZ_RB1_TARGETS_DN, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, E4BP4_01, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MARTINEZ_RB1_AND_TP53_TARGETS_DN, GSE17721_POLYIC_VS_CPG_16H_BMDC_UP, GSE17721_LPS_VS_CPG_2H_BMDC_UP, NOTCH3_TARGET_GENES, GSE17721_0.5H_VS_8H_GARDIQUIMOD_BMDC_DN, GSE18148_CBFB_KO_VS_WT_TREG_UP, YATTNATC_UNKNOWN

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:

Category	Pathways
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP19-5	KRTAP10-11	P60412	580
KRTAP19-5	TAFA3	Q7Z5A8	578
KRTAP19-5	KRTAP13-2	Q52LG2	575
KRTAP19-5	KRTAP10-5	P60370	544
KRTAP19-5	KRTAP10-7	P60409	526
KRTAP19-5	NT5DC3	Q86UY8	514
KRTAP19-5	NCLN	Q969V3	480
KRTAP19-5	KRTAP19-1	Q8IUB9	480
KRTAP19-5	KRTAP20-2	Q3LI61	478
KRTAP19-5	FAXDC2	Q96IV6	447
KRTAP19-5	KRTAP7-1	Q8IUC3	429
KRTAP19-5	KRTAP8-1	Q8IUC2	416
KRTAP19-5	LCE2C	Q5TA81	393
KRTAP19-5	ARPP21	Q9UBL0	391
KRTAP19-5	GLRA1	P23415	380
KRTAP19-5	LCE2A	Q5TA79	380

IntAct

351 interactions, top by confidence:

A	B	Type	Score
MAGED1	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.810
KRTAP19-5	MAGED1	psi-mi:“MI:0915”(physical association)	0.810
KRTAP19-5	VAC14	psi-mi:“MI:0915”(physical association)	0.720
DAZAP2	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP19-5	RHOXF2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP19-5	DAZAP2	psi-mi:“MI:0915”(physical association)	0.720
RHOXF2	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.720
VAC14	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP19-5	ATN1	psi-mi:“MI:0915”(physical association)	0.720
RBPMS	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.610
KRTAP19-5	RBPMS	psi-mi:“MI:0915”(physical association)	0.610
	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-5	DAB1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-5	PSMA3	psi-mi:“MI:0915”(physical association)	0.560
CAMK2B	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.560
HEL-S-101	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.560
PSMA3	KRTAP19-5	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-5	CAMK2B	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-5	HEL-S-101	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (103): KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Affinity Capture-MS), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (Two-hybrid), KRTAP19-5 (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: O08632, Q3LI72, Q3LI73, Q7Z4W3, Q3LHN2, Q3LI60, Q3LI61, Q3LI63, Q3SYF9, Q3LI70, Q8IUB9, Q925H2, Q925H7, Q925I0, Q99NG9, Q925H6, Q8C1I6, Q3LI54

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 92 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:

Pathway	Partners	Fold	FDR
Keratinization	6	8.2×	3e-03
Ub-specific processing proteases	5	6.5×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

94 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30502043:T:TA	donor_gain	0.8500
21:30502064:T:TA	donor_gain	0.8000
21:30502048:AG:A	donor_gain	0.7700
21:30502049:G:C	donor_gain	0.7600
21:30502024:AG:A	donor_gain	0.6800
21:30502025:G:C	donor_gain	0.6800
21:30501961:AG:A	donor_gain	0.6700
21:30502007:T:TA	donor_gain	0.6600
21:30502024:AGC:A	donor_gain	0.6500
21:30502018:AG:A	donor_gain	0.6400
21:30501938:T:TA	donor_gain	0.6300
21:30501934:AG:A	donor_gain	0.6200
21:30502076:G:A	donor_gain	0.6200
21:30502059:AGG:A	donor_gain	0.6100
21:30501934:AGCCT:A	donor_gain	0.5900
21:30501955:AT:A	donor_gain	0.5800
21:30501900:C:CA	donor_gain	0.5700
21:30501961:AGCCT:A	donor_gain	0.5700
21:30501965:T:TA	donor_gain	0.5600
21:30502019:G:C	donor_gain	0.5600
21:30501935:G:C	donor_gain	0.5500
21:30501896:T:TA	donor_gain	0.5400
21:30501881:T:TA	donor_gain	0.5200
21:30501956:T:C	donor_gain	0.5200
21:30502054:AGC:A	donor_gain	0.5200
21:30502039:AG:A	donor_gain	0.5100
21:30502054:AG:A	donor_gain	0.5000
21:30501745:TAA:T	donor_gain	0.4900
21:30501746:AAA:A	donor_gain	0.4900
21:30501920:G:C	donor_gain	0.4900

AlphaMissense

436 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30501887:G:C	F68L	0.832
21:30501887:G:T	F68L	0.832
21:30501889:A:G	F68L	0.832
21:30501941:G:C	F50L	0.780
21:30501941:G:T	F50L	0.780
21:30501943:A:G	F50L	0.780
21:30501878:A:C	F71L	0.749
21:30501878:A:T	F71L	0.749
21:30501880:A:G	F71L	0.749
21:30501995:G:C	F32L	0.746
21:30501995:G:T	F32L	0.746
21:30501997:A:G	F32L	0.746
21:30502037:G:C	F18L	0.732
21:30502037:G:T	F18L	0.732
21:30502039:A:G	F18L	0.732

dbSNP variants (sampled 300 via entrez): RS1000151772 (21:30503299 C>A), RS1001059940 (21:30503333 C>A,T), RS1001600717 (21:30501352 G>A), RS1003455245 (21:30501434 T>C,G), RS1004256135 (21:30501386 A>G,T), RS1004828180 (21:30503707 T>A), RS1004949323 (21:30504101 T>A,C), RS1007243095 (21:30503683 C>G), RS1007613746 (21:30501796 C>T), RS1007879320 (21:30503377 G>A,T), RS1008673456 (21:30503329 C>A,T), RS1009033100 (21:30503093 G>A), RS1010711580 (21:30501816 G>A,C), RS1011081564 (21:30502522 T>A,C), RS1011416357 (21:30501381 A>G)

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

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
afuresertib	decreases expression	1
clothianidin	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.