KRTAP19-8

Summary

KRTAP19-8 (keratin associated protein 19-8, HGNC:33898) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 19-8 (Q3LI54). 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 728299 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 13 total
• MANE Select transcript: NM_001099219

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33898
Approved symbol	KRTAP19-8
Name	keratin associated protein 19-8
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206102
Ensembl biotype	protein_coding
Entrez	728299

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382822

RefSeq mRNA: 1 — MANE Select: NM_001099219 NM_001099219

CCDS: CCDS42917

Canonical transcript exons

ENST00000382822 — 1 exons

Exon	Start	End
ENSE00001493459	31038159	31038476

Expression profiles

Bgee: expression breadth broad, 53 present calls, max score 93.68.

Top tissues by expression

100 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	93.68	gold quality
granulocyte	CL:0000094	47.50	silver quality
right testis	UBERON:0004534	42.74	gold quality
testis	UBERON:0000473	37.28	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
left testis	UBERON:0004533	37.15	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
bone marrow	UBERON:0002371	33.91	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
urinary bladder	UBERON:0001255	32.57	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
right lung	UBERON:0002167	30.76	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.87	gold quality
liver	UBERON:0002107	29.61	silver quality
leukocyte	CL:0000738	29.58	gold quality
islet of Langerhans	UBERON:0000006	29.13	gold quality
monocyte	CL:0000576	28.75	gold quality
adenohypophysis	UBERON:0002196	28.27	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
uterine cervix	UBERON:0000002	27.34	gold quality
ectocervix	UBERON:0012249	27.07	silver quality
tonsil	UBERON:0002372	27.05	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.46

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 19-8 — Q3LI54 (reviewed: Q3LI54)

All UniProt accessions (1): Q3LI54

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_001092689* (*=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-Q3LI54-F1	51.48	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: 12 (showing top): MARTINEZ_RB1_TARGETS_DN, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, CHEN_METABOLIC_SYNDROM_NETWORK, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, SRSF9_TARGET_GENES, MARTINEZ_RB1_AND_TP53_TARGETS_DN, MARTINEZ_TP53_TARGETS_DN, GSE20727_ROS_INH_VS_ROS_INH_AND_DNFB_ALLERGEN_TREATED_DC_DN

GO Biological Process (0):

GO Molecular Function (0):

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
cytoplasm	1
cellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP19-8	OR1N1	Q8NGS0	666
KRTAP19-8	OR56A3	Q8NH54	621
KRTAP19-8	OR8B12	Q8NGG6	609
KRTAP19-8	OR5M10	Q6IEU7	608
KRTAP19-8	OR5L2	Q8NGL0	581
KRTAP19-8	KRTAP5-7	Q6L8G8	580
KRTAP19-8	KRTAP20-2	Q3LI61	577
KRTAP19-8	OR51V1	Q9H2C8	571
KRTAP19-8	OR5L1	Q8NGL2	541
KRTAP19-8	KNOP1	Q1ED39	517
KRTAP19-8	OR4N4	Q8N0Y3	511
KRTAP19-8	KRTAP5-11	Q6L8G4	506
KRTAP19-8	KRTAP5-5	Q701N2	506
KRTAP19-8	OR2M5	A3KFT3	474
KRTAP19-8	RPUSD3	Q6P087	446

IntAct

0 interactions, top by confidence:

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, Q3LI72, Q3LI73, Q7Z4W3, Q925H6

SIGNOR signaling

0 interactions.

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

117 predictions. Top by Δscore:

Variant	Effect	Δscore
21:31038275:AT:A	donor_gain	0.8900
21:31038426:G:C	donor_gain	0.8800
21:31038417:T:TA	donor_gain	0.8700
21:31038275:ATCCT:A	donor_gain	0.8400
21:31038279:T:TA	donor_gain	0.8400
21:31038438:G:C	donor_gain	0.8400
21:31038396:T:TA	donor_gain	0.8100
21:31038385:C:CT	donor_gain	0.7900
21:31038412:AGG:A	donor_gain	0.7900
21:31038429:T:TA	donor_gain	0.7700
21:31038252:T:TA	donor_gain	0.7600
21:31038276:T:TA	donor_gain	0.7600
21:31038402:G:C	donor_gain	0.7400
21:31038314:AG:A	donor_gain	0.7300
21:31038401:AG:A	donor_gain	0.7300
21:31038276:T:C	donor_gain	0.7200
21:31038391:AAG:A	donor_gain	0.7200
21:31038407:AG:A	donor_gain	0.6600
21:31038318:T:TA	donor_gain	0.6300
21:31038386:C:CT	donor_gain	0.6200
21:31038408:G:C	donor_gain	0.6100
21:31038443:T:C	donor_gain	0.6100
21:31038340:A:T	donor_gain	0.5400
21:31038314:AGCCT:A	donor_gain	0.5300
21:31038280:C:CA	donor_gain	0.5200
21:31038407:AGC:A	donor_gain	0.5200
21:31038248:CT:C	donor_gain	0.5000
21:31038188:C:CC	acceptor_gain	0.4900
21:31038186:ACC:A	acceptor_loss	0.4700
21:31038187:CCTG:C	acceptor_loss	0.4700

AlphaMissense

385 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:31038267:G:C	F59L	0.769
21:31038267:G:T	F59L	0.769
21:31038269:A:G	F59L	0.769
21:31038348:G:C	F32L	0.719
21:31038348:G:T	F32L	0.719
21:31038350:A:G	F32L	0.719
21:31038258:G:C	F62L	0.707
21:31038258:G:T	F62L	0.707
21:31038260:A:G	F62L	0.707
21:31038351:G:C	S31R	0.610
21:31038351:G:T	S31R	0.610
21:31038353:T:G	S31R	0.610
21:31038306:G:C	F46L	0.609
21:31038306:G:T	F46L	0.609
21:31038308:A:G	F46L	0.609
21:31038390:A:C	F18L	0.597
21:31038390:A:T	F18L	0.597
21:31038392:A:G	F18L	0.597

dbSNP variants (sampled 300 via entrez): RS1000863412 (21:31039907 A>G), RS1001274767 (21:31039546 A>G), RS1001934747 (21:31037977 A>T), RS1002653323 (21:31040407 A>G), RS1002671794 (21:31037718 G>A), RS1010136698 (21:31039923 G>C), RS1010722826 (21:31039342 T>C), RS1011005855 (21:31039723 G>A), RS1011727180 (21:31038000 T>C), RS1012765200 (21:31038370 T>C,G), RS1013508755 (21:31037913 C>G,T), RS1014608564 (21:31040383 G>A), RS1016013187 (21:31039024 C>A), RS1017881294 (21:31038489 T>A,C), RS1018835726 (21:31040208 C>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
bisphenol A	decreases methylation	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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