KRTAP10-8

Summary

KRTAP10-8 (keratin associated protein 10-8, HGNC:20525) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-8 (P60410). 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….

Enables identical protein binding activity. Predicted to be located in cytosol.

Source: NCBI Gene 386681 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_198695

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20525
Approved symbol	KRTAP10-8
Name	keratin associated protein 10-8
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP18.8, KAP10.8
Ensembl gene	ENSG00000187766
Ensembl biotype	protein_coding
Entrez	386681

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334662

RefSeq mRNA: 1 — MANE Select: NM_198695 NM_198695

CCDS: CCDS13713

Canonical transcript exons

ENST00000334662 — 1 exons

Exon	Start	End
ENSE00001332752	44612079	44612954

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 41.56.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	41.56	silver quality
bone marrow cell	CL:0002092	38.87	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
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
skin of abdomen	UBERON:0001416	33.13	gold quality
bone marrow	UBERON:0002371	33.13	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
zone of skin	UBERON:0000014	31.48	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
skin of leg	UBERON:0001511	30.36	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.83	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
urinary bladder	UBERON:0001255	28.96	gold quality
leukocyte	CL:0000738	28.65	gold quality
blood	UBERON:0000178	28.33	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.95	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
right lobe of liver	UBERON:0001114	26.98	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
right lung	UBERON:0002167	26.23	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-GEOD-76312	yes	8.67
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-6 (ENSG00000188155), KRTAP1-1 (ENSG00000188581), KRTAP10-12 (ENSG00000189169), KRTAP4-3 (ENSG00000196156), KRTAP9-9 (ENSG00000198083), KRTAP4-6 (ENSG00000198090), KRTAP4-5 (ENSG00000198271), KRTAP4-1 (ENSG00000198443), KRTAP9-3 (ENSG00000204873), KRTAP4-8 (ENSG00000204880), KRTAP1-4 (ENSG00000204887), KRTAP12-3 (ENSG00000205439), KRTAP10-2 (ENSG00000205445), KRTAP5-6 (ENSG00000205864), KRTAP5-2 (ENSG00000205867), KRTAP16-1 (ENSG00000212657), KRTAP9-6 (ENSG00000212659), KRTAP4-11 (ENSG00000212721), KRTAP4-9 (ENSG00000212722), KRTAP2-3 (ENSG00000212724), KRTAP2-1 (ENSG00000212725), KRTAP10-3 (ENSG00000212935), KRTAP4-12 (ENSG00000213416), KRTAP2-4 (ENSG00000213417), KRTAP2-2 (ENSG00000214518), KRTAP10-4 (ENSG00000215454), KRTAP10-1 (ENSG00000215455), KRTAP10-9 (ENSG00000221837), KRTAP1-5 (ENSG00000221852), KRTAP10-10 (ENSG00000221859), KRTAP12-2 (ENSG00000221864), KRTAP1-3 (ENSG00000221880), KRTAP9-2 (ENSG00000239886), KRTAP9-1 (ENSG00000240542), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 10-8 — P60410 (reviewed: P60410)

Alternative names: High sulfur keratin-associated protein 10.8, Keratin-associated protein 10.8, Keratin-associated protein 18-8, Keratin-associated protein 18.8

All UniProt accessions (1): P60410

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. Restricted to a narrow region of the hair fiber cuticle, lying approximately 20 cell layers above the apex of the dermal papilla of the hair root; not detected in any other tissues.

Similarity. Belongs to the KRTAP type 10 family.

RefSeq proteins (1): NP_941968* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (24 total): repeat 19, sequence variant 3, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60410-F1	36.49	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: 10 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, ZNF30_TARGET_GENES, ZNF707_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): cytosol (GO:0005829), keratin filament (GO:0045095), 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
protein binding	1
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

300 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP10-8	KRTAP12-3	P60328	583
KRTAP10-8	KRTAP9-8	Q9BYQ0	571
KRTAP10-8	OR1E1	P30953	448
KRTAP10-8	OR12D2	P58182	447
KRTAP10-8	SLX9	Q9NSI2	440
KRTAP10-8	RUFY4	Q6ZNE9	418
KRTAP10-8	TSPEAR	Q8WU66	403
KRTAP10-8	KRTAP2-3	P0C7H8	399
KRTAP10-8	PXDC1	Q5TGL8	391
KRTAP10-8	KRT38	O76015	382
KRTAP10-8	TEX51	A0A1B0GUA7	377
KRTAP10-8	ADCK1	Q86TW2	373
KRTAP10-8	PRB3	Q04118	370
KRTAP10-8	SERPINB12	Q96P63	370
KRTAP10-8	IGFL1	Q6UW32	359

IntAct

1587 interactions, top by confidence:

A	B	Type	Score
PRPF31	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.810
KRTAP10-8	PRPF31	psi-mi:“MI:0915”(physical association)	0.810
LCE1B	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.780
KRTAP10-8	ZNF572	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	ZBTB24	psi-mi:“MI:0915”(physical association)	0.720
SPRY1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	PRKAB2	psi-mi:“MI:0915”(physical association)	0.720
MAPKBP1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	STK16	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	GLRX3	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	PVR	psi-mi:“MI:0915”(physical association)	0.720
ZNF20	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	DDX6	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	COL8A1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	OTX1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	KRT20	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	HPCAL1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	ALDH3B1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	SMCP	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	MXI1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	KRTAP12-1	psi-mi:“MI:0915”(physical association)	0.720
NUFIP2	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP5-9	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
HOXA1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
CREB5	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-8	ADAMTSL4	psi-mi:“MI:0915”(physical association)	0.720
CATSPER1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (502): KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-8 (Two-hybrid)

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, O75690, P02438, P02441, P02442, P02443, P08131, P0C7H8, P26371, P59990, P59991, P60014, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q6L8G8, Q6L8G9, Q6L8H2, Q701N4, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0, Q9BYQ2

Diamond homologs: A6QP35, P60371, P60372, P60409, P60410, P60413, P60014, P60331, P60368, P60369, P60411, P60412

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 154 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	19	11.8×	4e-13
Formation of the cornified envelope	8	7.8×	8e-04

GO biological processes:

GO term	Partners	Fold	FDR
hair cycle	5	37.5×	1e-04
keratinization	7	13.1×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

308 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44612124:G:GT	donor_gain	0.9500
21:44612242:G:GT	donor_gain	0.9200
21:44612123:GGAC:G	donor_gain	0.8600
21:44612124:G:T	donor_gain	0.7500
21:44612134:A:AG	donor_gain	0.7500
21:44612335:G:GG	donor_gain	0.7500
21:44612135:T:G	donor_gain	0.7300
21:44612228:TGGAC:T	donor_gain	0.7200
21:44612334:A:AG	donor_gain	0.7200
21:44612229:G:GA	donor_gain	0.7000
21:44612127:G:GG	donor_gain	0.6800
21:44612339:GCT:G	donor_gain	0.6800
21:44612224:C:T	donor_gain	0.6600
21:44612178:T:G	donor_gain	0.6400
21:44612124:GAC:G	donor_gain	0.6300
21:44612150:T:G	donor_gain	0.6300
21:44612181:C:A	donor_gain	0.6300
21:44612584:CAACA:C	acceptor_loss	0.6300
21:44612585:AACAG:A	acceptor_loss	0.6300
21:44612586:ACAG:A	acceptor_loss	0.6300
21:44612587:CAGG:C	acceptor_loss	0.6300
21:44612588:A:AG	acceptor_gain	0.6300
21:44612588:A:G	acceptor_loss	0.6300
21:44612589:G:C	acceptor_loss	0.6300
21:44612589:G:GG	acceptor_gain	0.6300
21:44612667:G:GT	donor_gain	0.6200
21:44612168:AC:A	donor_gain	0.6100
21:44612250:C:G	donor_gain	0.6100
21:44612558:C:A	donor_gain	0.6100
21:44612130:T:G	donor_gain	0.6000

AlphaMissense

1675 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44612407:A:C	S103R	0.614
21:44612409:C:A	S103R	0.614
21:44612409:C:G	S103R	0.614

dbSNP variants (sampled 300 via entrez): RS1000472796 (21:44610596 A>C), RS1001935084 (21:44610228 C>A,T), RS1003637491 (21:44611227 C>A,G), RS1005585091 (21:44611504 T>C), RS1007547720 (21:44611964 G>A,C), RS1009633920 (21:44610820 A>G), RS1010105612 (21:44611183 G>C,T), RS1018857924 (21:44611724 A>G), RS1019986329 (21:44611761 G>T), RS1021045984 (21:44611196 A>G), RS1021077040 (21:44610824 C>G), RS1029844061 (21:44611701 C>T), RS1032426813 (21:44610611 C>A), RS1034067112 (21:44611236 G>A), RS1035761067 (21:44612091 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

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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