KRTAP19-1

Summary

KRTAP19-1 (keratin associated protein 19-1, HGNC:18936) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-1 (Q8IUB9). 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 337882 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_181607

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18936
Approved symbol	KRTAP19-1
Name	keratin associated protein 19-1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP19.1
Ensembl gene	ENSG00000184351
Ensembl biotype	protein_coding
Entrez	337882

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000390689

RefSeq mRNA: 1 — MANE Select: NM_181607 NM_181607

CCDS: CCDS13594

Canonical transcript exons

ENST00000390689 — 1 exons

Exon	Start	End
ENSE00001508612	30479706	30480367

Expression profiles

Bgee: expression breadth broad, 22 present calls, max score 82.91.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0899 / max 32.8238, expressed in 24 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190124	0.0899	24

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	82.91	gold quality
upper leg skin	UBERON:0004262	61.78	gold quality
cerebellar vermis	UBERON:0004720	53.74	gold quality
lower lobe of lung	UBERON:0008949	46.20	silver quality
thymus	UBERON:0002370	44.72	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
quadriceps femoris	UBERON:0001377	42.64	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
vastus lateralis	UBERON:0001379	41.41	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
skin of hip	UBERON:0001554	40.55	silver quality
skin of abdomen	UBERON:0001416	40.49	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
myocardium	UBERON:0002349	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	40.27	gold quality
jejunum	UBERON:0002115	40.18	gold quality
cartilage tissue	UBERON:0002418	40.06	gold quality
granulocyte	CL:0000094	40.04	gold quality
oviduct epithelium	UBERON:0004804	40.03	gold quality
zone of skin	UBERON:0000014	40.00	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
mucosa of sigmoid colon	UBERON:0004993	39.95	gold quality
deltoid	UBERON:0001476	39.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-1 — Q8IUB9 (reviewed: Q8IUB9)

Alternative names: High tyrosine-glycine keratin-associated protein 19.1

All UniProt accessions (1): Q8IUB9

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.

Tissue specificity. Detected in the upper portion of the hair cortex.

Similarity. Belongs to the KRTAP type 19 family.

RefSeq proteins (1): NP_853638* (*=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, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUB9-F1	49.41	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: 23 (showing top): GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, MARTINEZ_RB1_TARGETS_DN, chr21q22, DURCHDEWALD_SKIN_CARCINOGENESIS_UP, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, WINNEPENNINCKX_MELANOMA_METASTASIS_DN, RAO_BOUND_BY_SALL4_ISOFORM_A, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MARTINEZ_RB1_AND_TP53_TARGETS_DN, GSE18148_CBFB_KO_VS_WT_TREG_UP, GSE18791_UNSTIM_VS_NEWCATSLE_VIRUS_DC_2H_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

244 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP19-1	KRTAP7-1	Q8IUC3	577
KRTAP19-1	KRTAP10-11	P60412	571
KRTAP19-1	KRTAP13-2	Q52LG2	570
KRTAP19-1	KRTAP8-1	Q8IUC2	542
KRTAP19-1	KRTAP16-1	A8MUX0	542
KRTAP19-1	OR6N2	Q8NGY6	530
KRTAP19-1	KRTAP10-5	P60370	526
KRTAP19-1	KRTAP10-7	P60409	507
KRTAP19-1	KRTAP24-1	Q3LI83	488
KRTAP19-1	KRTAP19-5	Q3LI72	480
KRTAP19-1	KRTAP5-7	Q6L8G8	473
KRTAP19-1	KRTAP3-2	Q9BYR7	432
KRTAP19-1	KRTAP11-1	Q8IUC1	404
KRTAP19-1	KRTAP1-5	Q9BYS1	400
KRTAP19-1	LCE2C	Q5TA81	371

IntAct

157 interactions, top by confidence:

A	B	Type	Score
BAHD1	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
C11orf87	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
RHBG	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
RBPMS	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	CCDC120	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	TEKT4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	CERK	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	ZNF414	psi-mi:“MI:0915”(physical association)	0.560
PRR20D	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
VENTX	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	PATZ1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1		psi-mi:“MI:0915”(physical association)	0.560
BCL6	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
PSMB1	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
ZIC1	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
SNRPB	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
DTX2	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	PEF1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	HEMK1	psi-mi:“MI:0915”(physical association)	0.560
ATG9A	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
KPRP	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
PROP1	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
PSMB2	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
HHEX	KRTAP19-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP19-1	INO80B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (46): KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (Two-hybrid), KRTAP19-1 (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, Q8C1I6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

160 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30480291:T:TA	donor_gain	0.8900
21:30480270:T:TA	donor_gain	0.8400
21:30480276:G:C	donor_gain	0.8400
21:30480259:C:CT	donor_gain	0.8300
21:30480188:AG:A	donor_gain	0.8200
21:30480260:C:CT	donor_gain	0.8100
21:30480234:T:TA	donor_gain	0.8000
21:30480265:AAG:A	donor_gain	0.8000
21:30480188:AGCCT:A	donor_gain	0.7900
21:30480300:G:C	donor_gain	0.7900
21:30480189:G:C	donor_gain	0.7400
21:30480317:T:C	donor_gain	0.7400
21:30480156:T:C	donor_gain	0.7300
21:30480183:T:C	donor_gain	0.7300
21:30480134:AGCCT:A	donor_gain	0.7200
21:30480182:AT:A	donor_gain	0.7000
21:30480252:G:C	donor_gain	0.7000
21:30480286:AGG:A	donor_gain	0.7000
21:30480192:T:TA	donor_gain	0.6800
21:30480246:G:C	donor_gain	0.6800
21:30480360:CTGAG:C	acceptor_gain	0.6800
21:30480361:TGAGT:T	acceptor_gain	0.6800
21:30480362:GAGTG:G	acceptor_gain	0.6800
21:30480135:G:C	donor_gain	0.6700
21:30480155:AT:A	donor_gain	0.6700
21:30480251:AGC:A	donor_gain	0.6700
21:30480128:AT:A	donor_gain	0.6600
21:30480129:T:C	donor_gain	0.6600
21:30480156:T:TA	donor_gain	0.6600
21:30480251:AG:A	donor_gain	0.6600

AlphaMissense

551 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30480264:G:C	F18L	0.827
21:30480264:G:T	F18L	0.827
21:30480266:A:G	F18L	0.827
21:30480168:A:C	F50L	0.751
21:30480168:A:T	F50L	0.751
21:30480170:A:G	F50L	0.751
21:30480060:G:C	F86L	0.744
21:30480060:G:T	F86L	0.744
21:30480062:A:G	F86L	0.744
21:30480114:A:C	F68L	0.730
21:30480114:A:T	F68L	0.730
21:30480116:A:G	F68L	0.730
21:30480141:A:C	F59L	0.708
21:30480141:A:T	F59L	0.708
21:30480143:A:G	F59L	0.708
21:30480222:G:C	F32L	0.625
21:30480222:G:T	F32L	0.625
21:30480224:A:G	F32L	0.625
21:30480051:A:C	F89L	0.591
21:30480051:A:T	F89L	0.591
21:30480053:A:G	F89L	0.591

dbSNP variants (sampled 300 via entrez): RS1000349817 (21:30482182 T>G), RS1000401628 (21:30480857 C>G,T), RS1000690008 (21:30481222 C>G), RS1003122933 (21:30479410 A>G), RS1005062751 (21:30481604 C>A,T), RS1005528355 (21:30481864 T>G), RS1006529182 (21:30479576 A>C,T), RS1008919084 (21:30481221 T>C), RS1011717657 (21:30479439 A>G), RS1012336028 (21:30481889 A>G), RS1014242773 (21:30480814 A>C), RS1016869518 (21:30480456 T>C,G), RS1017603159 (21:30481225 C>A), RS1017873123 (21:30480933 C>T), RS1018209404 (21:30479579 T>C)

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

16 total (human), top 16 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, decreases methylation	1
thallium sulfate	increases expression	1
ferrous chloride	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
avobenzone	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	decreases methylation	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Oxygen	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Sodium Selenite	increases expression	1
Lactic Acid	increases expression	1

Clinical trials (associated diseases)

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