KRTAP19-3

Summary

KRTAP19-3 (keratin associated protein 19-3, HGNC:18938) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-3 (Q7Z4W3). 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 337970 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_181609

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18938
Approved symbol	KRTAP19-3
Name	keratin associated protein 19-3
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP19.3
Ensembl gene	ENSG00000244025
Ensembl biotype	protein_coding
Entrez	337970

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334063

RefSeq mRNA: 1 — MANE Select: NM_181609 NM_181609

CCDS: CCDS13596

Canonical transcript exons

ENST00000334063 — 1 exons

Exon	Start	End
ENSE00001293210	30491462	30492013

Expression profiles

Bgee: expression breadth broad, 33 present calls, max score 85.01.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0595 / max 46.0796, expressed in 7 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190125	0.0595	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	85.01	silver quality
upper arm skin	UBERON:0004263	84.14	gold quality
tibialis anterior	UBERON:0001385	74.89	silver quality
amniotic fluid	UBERON:0000173	69.81	silver quality
kidney epithelium	UBERON:0004819	67.99	gold quality
vena cava	UBERON:0004087	65.21	gold quality
cardiac muscle of right atrium	UBERON:0003379	64.43	gold quality
gastrocnemius	UBERON:0001388	64.28	gold quality
left ventricle myocardium	UBERON:0006566	64.18	gold quality
medial globus pallidus	UBERON:0002477	63.58	gold quality
nipple	UBERON:0002030	63.27	gold quality
globus pallidus	UBERON:0001875	63.22	gold quality
buccal mucosa cell	CL:0002336	62.90	gold quality
saphenous vein	UBERON:0007318	62.52	gold quality
pericardium	UBERON:0002407	62.32	gold quality
superior surface of tongue	UBERON:0007371	62.09	gold quality
inferior vagus X ganglion	UBERON:0005363	62.04	gold quality
dorsal root ganglion	UBERON:0000044	62.01	gold quality
thymus	UBERON:0002370	61.96	gold quality
subthalamic nucleus	UBERON:0001906	61.93	gold quality
tongue	UBERON:0001723	61.91	gold quality
cardia of stomach	UBERON:0001162	61.88	gold quality
dorsal plus ventral thalamus	UBERON:0001897	61.79	gold quality
pons	UBERON:0000988	61.76	gold quality
substantia nigra pars reticulata	UBERON:0001966	61.72	gold quality
trigeminal ganglion	UBERON:0001675	61.71	gold quality
pylorus	UBERON:0001166	61.70	gold quality
cerebellar vermis	UBERON:0004720	61.70	gold quality
synovial joint	UBERON:0002217	61.68	gold quality
substantia nigra pars compacta	UBERON:0001965	61.62	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.81

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting KRTAP19-3, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-2113	99.58	71.22	1521
HSA-MIR-6832-5P	99.58	64.82	1132
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-6755-3P	98.61	66.90	834
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-326	98.25	66.44	1565
HSA-MIR-3159	97.94	66.79	1098
HSA-MIR-3909	97.55	66.78	887
HSA-MIR-3976	96.67	67.79	1187

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-3 — Q7Z4W3 (reviewed: Q7Z4W3)

Alternative names: GTHRP, Glycine/tyrosine-rich protein

All UniProt accessions (1): Q7Z4W3

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_853640* (*=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-Q7Z4W3-F1	51.11	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: 33 (showing top): MARTINEZ_RB1_TARGETS_DN, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR548E_5P, MIR3121_3P, MIR4307, MIR377_3P, MARTINEZ_RB1_AND_TP53_TARGETS_DN, GSE17721_LPS_VS_CPG_2H_BMDC_DN, NOTCH3_TARGET_GENES, GSE29614_CTRL_VS_TIV_FLU_VACCINE_PBMC_2007_UP

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

230 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP19-3	KRTAP13-2	Q52LG2	720
KRTAP19-3	KRTAP10-11	P60412	610
KRTAP19-3	KRTAP10-5	P60370	584
KRTAP19-3	KRTAP19-2	Q3LHN2	583
KRTAP19-3	KRTAP10-7	P60409	581
KRTAP19-3	KRTAP9-2	Q9BYQ4	503
KRTAP19-3	KRTAP7-1	Q8IUC3	474
KRTAP19-3	KRTAP8-1	Q8IUC2	446
KRTAP19-3	KRTAP13-1	Q8IUC0	445
KRTAP19-3	LCE2C	Q5TA81	435
KRTAP19-3	LCE2A	Q5TA79	432
KRTAP19-3	LCE2D	Q5TA82	431
KRTAP19-3	LCE1C	Q5T751	400
KRTAP19-3	LCE3E	Q5T5B0	398
KRTAP19-3	LCE2B	O14633	369

IntAct

55 interactions, top by confidence:

A	B	Type	Score
DAZAP2	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.600
KRTAP19-3	DAZAP2	psi-mi:“MI:0915”(physical association)	0.600
KRTAP19-3	UBQLN2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-3	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
VAC14	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-3	CAMK2A	psi-mi:“MI:0915”(physical association)	0.560
CAMK2G	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-3	BOLL	psi-mi:“MI:0915”(physical association)	0.560
CAMK2B	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
TNIP1	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-3	GLIS2	psi-mi:“MI:0915”(physical association)	0.560
ARID5A	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
CREB5	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
POU2AF1	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-3	SMR3A	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-3	NAF1	psi-mi:“MI:0915”(physical association)	0.560
LASP1	KRTAP19-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-3	DAZAP2	psi-mi:“MI:0915”(physical association)	0.000
KRTAP19-3	UBQLN2	psi-mi:“MI:0915”(physical association)	0.000
KRTAP19-3	RBPMS	psi-mi:“MI:0915”(physical association)	0.000
KRTAP19-3	VAC14	psi-mi:“MI:0915”(physical association)	0.000
KRTAP19-3	CAMK2A	psi-mi:“MI:0915”(physical association)	0.000
KRTAP19-3	CAMK2G	psi-mi:“MI:0915”(physical association)	0.000
KRTAP19-3	CYSRT1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (Two-hybrid), KRTAP19-3 (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, Q3LI70, Q3SYF9, Q8IUB9, Q3LHN2, Q3LI60, Q925H2, Q925H7, Q925I0, Q99NG9, Q3LI61, Q925H6, Q8C1I6, Q3LI54

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

53 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30491735:AT:A	donor_gain	0.9700
21:30491739:T:TA	donor_gain	0.9600
21:30491735:ATCCT:A	donor_gain	0.9200
21:30491621:G:C	donor_gain	0.9100
21:30491582:G:A	donor_gain	0.8900
21:30491579:A:C	donor_gain	0.8100
21:30491736:T:TA	donor_gain	0.7800
21:30491736:T:C	donor_gain	0.7700
21:30491774:AG:A	donor_gain	0.6700
21:30491620:AGCT:A	donor_gain	0.6200
21:30491801:AG:A	donor_gain	0.6200
21:30491828:AG:A	donor_gain	0.5600
21:30491690:A:C	donor_gain	0.5400
21:30491768:AT:A	donor_gain	0.5300
21:30491624:C:CA	donor_gain	0.5200
21:30491671:T:TA	donor_gain	0.5100
21:30491721:T:TA	donor_gain	0.4900
21:30491769:T:C	donor_gain	0.4600
21:30491940:G:C	donor_gain	0.4500
21:30491606:T:TA	donor_gain	0.4200
21:30491740:C:CA	donor_gain	0.4200
21:30491774:AGCCT:A	donor_gain	0.4200
21:30491926:AGG:A	donor_gain	0.4200
21:30491778:T:TA	donor_gain	0.4100
21:30491905:AAG:A	donor_gain	0.4000
21:30491952:G:C	donor_gain	0.3900
21:30491931:T:TA	donor_gain	0.3800
21:30491623:T:TA	donor_gain	0.3700
21:30491680:AATTT:A	donor_gain	0.3600
21:30491899:C:CT	donor_gain	0.3600

AlphaMissense

485 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30491904:A:C	F18L	0.812
21:30491904:A:T	F18L	0.812
21:30491906:A:G	F18L	0.812
21:30491727:G:C	F77L	0.801
21:30491727:G:T	F77L	0.801
21:30491729:A:G	F77L	0.801
21:30491717:A:C	Y81D	0.706
21:30491862:G:C	F32L	0.696
21:30491862:G:T	F32L	0.696
21:30491864:A:G	F32L	0.696
21:30491875:C:T	G28E	0.692
21:30491865:G:C	S31R	0.686
21:30491865:G:T	S31R	0.686
21:30491867:T:G	S31R	0.686
21:30491808:A:C	F50L	0.674
21:30491808:A:T	F50L	0.674
21:30491810:A:G	F50L	0.674
21:30491718:G:C	F80L	0.657
21:30491718:G:T	F80L	0.657
21:30491720:A:G	F80L	0.657
21:30491781:G:C	F59L	0.637
21:30491781:G:T	F59L	0.637
21:30491783:A:G	F59L	0.637
21:30491930:C:G	G10R	0.628
21:30491924:C:G	G12R	0.596
21:30491894:C:G	G22R	0.591
21:30491918:C:G	G14R	0.584
21:30491717:A:T	Y81N	0.574
21:30491752:G:A	P69L	0.571
21:30491752:G:T	P69Q	0.566

dbSNP variants (sampled 300 via entrez): RS1001031507 (21:30492436 T>C), RS1001379500 (21:30491629 A>G), RS1004494687 (21:30493171 C>G), RS1004837708 (21:30494000 A>C), RS1005930172 (21:30491289 T>G), RS1006606517 (21:30493914 T>A), RS1006879718 (21:30491582 G>A,T), RS1006931836 (21:30491836 T>C), RS1007719753 (21:30492244 G>T), RS1007978313 (21:30493105 C>A,T), RS1008340503 (21:30492923 A>G), RS1009956879 (21:30493370 T>TC), RS1010009299 (21:30493632 C>G,T), RS1010771863 (21:30491275 C>A,T), RS1011101984 (21:30492387 G>A,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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1

Clinical trials (associated diseases)

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