KRTAP19-4

Summary

KRTAP19-4 (keratin associated protein 19-4, HGNC:18939) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-4 (Q3LI73). 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 337971 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 10 total
• MANE Select transcript: NM_181610

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18939
Approved symbol	KRTAP19-4
Name	keratin associated protein 19-4
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP19.4
Ensembl gene	ENSG00000186967
Ensembl biotype	protein_coding
Entrez	337971

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334058

RefSeq mRNA: 1 — MANE Select: NM_181610 NM_181610

CCDS: CCDS33534

Canonical transcript exons

ENST00000334058 — 1 exons

Exon	Start	End
ENSE00001338568	30496824	30497165

Expression profiles

Bgee: expression breadth broad, 19 present calls, max score 38.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0049 / max 6.5581, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190126	0.0049	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	38.50	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
monocyte	CL:0000576	28.57	gold quality
leukocyte	CL:0000738	28.48	gold quality
duodenum	UBERON:0002114	28.14	gold quality
urinary bladder	UBERON:0001255	27.90	silver quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
skin of abdomen	UBERON:0001416	24.32	gold quality
descending thoracic aorta	UBERON:0002345	24.20	silver quality
pancreas	UBERON:0001264	24.10	gold quality
frontal cortex	UBERON:0001870	24.08	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
kidney	UBERON:0002113	23.19	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.15

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-4 — Q3LI73 (reviewed: Q3LI73)

All UniProt accessions (1): Q3LI73

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_853641* (*=MANE)

Domains & families (InterPro)

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

Pfam: PF11759

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3LI73-F1	54.24	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: 6 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, 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 (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

88 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP19-4	KRABD1	C9JBD0	692
KRTAP19-4	PALS2	Q9NZW5	479
KRTAP19-4	PTGR2	Q8N8N7	447
KRTAP19-4	LCE3D	Q9BYE3	412
KRTAP19-4	PPP1R8	Q12972	370
KRTAP19-4	TCHHL1	Q5QJ38	269
KRTAP19-4	PDGFC	Q9NRA1	213
KRTAP19-4	S100A3	P33764	181
KRTAP19-4	CRNN	Q9UBG3	176
KRTAP19-4	UBN1	Q9NPG3	174
KRTAP19-4	PDGFB	P01127	160
KRTAP19-4	COL3A1	P02461	159
KRTAP19-4	KRTAP24-1	Q3LI83	116
KRTAP19-4	KRTAP21-2	Q3LI59	90
KRTAP19-4	KRTAP21-1	Q3LI58	90
KRTAP19-4	A0A3B3IRQ3	A0A3B3IRQ3	90
KRTAP19-4	A0A3B3IRS2	A0A3B3IRS2	90

IntAct

14 interactions, top by confidence:

A	B	Type	Score
LASP1	KRTAP19-4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-4	KLHL42	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-4	GPSM3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-4	NOXA1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-4	ZMPSTE24	psi-mi:“MI:0914”(association)	0.350
KLHL42	KRTAP19-4	psi-mi:“MI:0915”(physical association)	0.000
GPSM3	KRTAP19-4	psi-mi:“MI:0915”(physical association)	0.000
LASP1	KRTAP19-4	psi-mi:“MI:0915”(physical association)	0.000
NOXA1	KRTAP19-4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): KRTAP19-4 (Two-hybrid), KRTAP19-4 (Two-hybrid), NOXA1 (Two-hybrid), GPSM3 (Two-hybrid), KRTAP19-4 (Positive Genetic), CCT6B (Affinity Capture-MS), NLN (Affinity Capture-MS), PLGRKT (Affinity Capture-MS), EXOG (Affinity Capture-MS), ZMPSTE24 (Affinity Capture-MS), FAM136A (Affinity Capture-MS)

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, Q3LI70, Q3SYF9, Q8IUB9, Q3LHN2, Q3LI60, Q925H2, Q925H7, Q925I0, Q99NG9, Q3LI61, Q925H6, Q3LI54

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

73 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30497093:G:C	donor_gain	0.8400
21:30497079:AGG:A	donor_gain	0.8200
21:30497105:G:C	donor_gain	0.8100
21:30497044:AG:A	donor_gain	0.7500
21:30497058:AAG:A	donor_gain	0.6800
21:30496952:G:C	donor_gain	0.6700
21:30496943:T:TA	donor_gain	0.6200
21:30497063:T:TA	donor_gain	0.6100
21:30496943:T:C	donor_gain	0.6000
21:30496946:T:TA	donor_gain	0.6000
21:30496942:ATCCT:A	donor_gain	0.5900
21:30497074:AG:A	donor_gain	0.5900
21:30497027:T:TA	donor_gain	0.5800
21:30497052:C:CT	donor_gain	0.5700
21:30496942:AT:A	donor_gain	0.5600
21:30496982:G:A	donor_gain	0.5500
21:30496891:CCT:C	donor_gain	0.5200
21:30497096:G:GA	donor_gain	0.5200
21:30497045:G:C	donor_gain	0.5000
21:30497074:AGC:A	donor_gain	0.4900
21:30497075:G:C	donor_gain	0.4800
21:30497109:ATGG:A	donor_gain	0.4700
21:30496883:T:TA	donor_gain	0.4600
21:30497003:A:C	donor_gain	0.4500
21:30497038:AG:A	donor_gain	0.4500
21:30497000:A:AC	donor_gain	0.4300
21:30497092:AGCTG:A	donor_gain	0.4300
21:30496905:T:TA	donor_gain	0.4100
21:30497001:TA:T	donor_gain	0.4000
21:30497002:AA:A	donor_gain	0.4000

AlphaMissense

512 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30497015:G:C	F32L	0.842
21:30497015:G:T	F32L	0.842
21:30497017:A:G	F32L	0.842
21:30497057:A:C	F18L	0.822
21:30497057:A:T	F18L	0.822
21:30497059:A:G	F18L	0.822
21:30496934:G:C	F59L	0.729
21:30496934:G:T	F59L	0.729
21:30496936:A:G	F59L	0.729
21:30496988:A:C	F41L	0.705
21:30496988:A:T	F41L	0.705
21:30496990:A:G	F41L	0.705
21:30497018:G:C	S31R	0.692
21:30497018:G:T	S31R	0.692
21:30497020:T:G	S31R	0.692
21:30496874:G:C	F79L	0.637
21:30496874:G:T	F79L	0.637
21:30496876:A:G	F79L	0.637
21:30497016:A:G	F32S	0.569

dbSNP variants (sampled 300 via entrez): RS1000111859 (21:30499102 TG>T), RS1000758569 (21:30498466 G>A,C), RS1000900161 (21:30498078 C>T), RS1001003206 (21:30497450 C>A,G), RS1003023044 (21:30498361 C>A,G), RS1003358296 (21:30496783 A>G,T), RS1003640427 (21:30496495 T>C), RS1007260623 (21:30498214 G>A), RS1008057502 (21:30498784 A>G), RS1011309602 (21:30496537 T>A), RS1011907803 (21:30498165 A>G), RS1012688592 (21:30497409 C>G), RS1016000972 (21:30498241 T>C), RS1016956988 (21:30497132 T>C), RS1018911037 (21:30496458 AT>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.

Chemical	Actions (top 5)	PubMed papers
hydroxyhydroquinone	increases expression	1
sodium arsenite	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Catechin	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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