KRTAP10-5

Summary

KRTAP10-5 (keratin associated protein 10-5, HGNC:22969) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-5 (P60370). 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….

This is an intronless gene located in a cluster of related genes on the q arm of chromosome 21. The proteins encoded by these genes form disulfide bonds with cysteine residues in hair keratins, thereby contributing to the structure and stability of hair fibers.

Source: NCBI Gene 386680 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_198694

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22969
Approved symbol	KRTAP10-5
Name	keratin associated protein 10-5
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KAP10.5, KAP18.5
Ensembl gene	ENSG00000241123
Ensembl biotype	protein_coding
Entrez	386680

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000400372

RefSeq mRNA: 1 — MANE Select: NM_198694 NM_198694

CCDS: CCDS42958

Canonical transcript exons

ENST00000400372 — 1 exons

Exon	Start	End
ENSE00001542625	44579455	44580604

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 82.45.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.45	gold quality
lower esophagus mucosa	UBERON:0035834	38.39	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
skin of abdomen	UBERON:0001416	35.64	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
sural nerve	UBERON:0015488	35.46	gold quality
zone of skin	UBERON:0000014	34.23	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
skin of leg	UBERON:0001511	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
liver	UBERON:0002107	30.78	gold quality
right lung	UBERON:0002167	30.44	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
lymph node	UBERON:0000029	28.70	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.83	gold quality
leukocyte	CL:0000738	27.81	gold quality
urinary bladder	UBERON:0001255	27.81	gold quality
right lobe of liver	UBERON:0001114	27.60	gold quality
primary visual cortex	UBERON:0002436	27.59	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
fundus of stomach	UBERON:0001160	26.44	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	0.33

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting KRTAP10-5, 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-545-3P	99.95	70.74	2783
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-1343-5P	96.48	66.06	1506
HSA-MIR-1291	96.28	65.89	1224
HSA-MIR-6775-3P	95.76	65.91	982
HSA-MIR-328-3P	92.82	64.37	521

Cross-species orthologs

0 orthologs

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-8 (ENSG00000187766), 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)

Protein

Protein identifiers

Keratin-associated protein 10-5 — P60370 (reviewed: P60370)

Alternative names: High sulfur keratin-associated protein 10.5, Keratin-associated protein 10.5, Keratin-associated protein 18-5, Keratin-associated protein 18.5

All UniProt accessions (1): P60370

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_941967* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (30 total): repeat 22, sequence variant 6, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60370-F1	35.73	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, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, ZIM3_TARGET_GENES, MIR1343_5P, MIR939_5P

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

258 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP10-5	KRTAP19-3	Q7Z4W3	584
KRTAP10-5	KRTAP19-5	Q3LI72	544
KRTAP10-5	TSPEAR	Q8WU66	543
KRTAP10-5	KRTAP19-1	Q8IUB9	526
KRTAP10-5	OR1E1	P30953	479
KRTAP10-5	KRTAP7-1	Q8IUC3	449
KRTAP10-5	KRTAP8-1	Q8IUC2	436
KRTAP10-5	LCE2C	Q5TA81	419
KRTAP10-5	KRTAP2-3	P0C7H8	419
KRTAP10-5	LCE2A	Q5TA79	418
KRTAP10-5	KRT38	O76015	402
KRTAP10-5	PRB3	Q04118	392
KRTAP10-5	KRTAP13-2	Q52LG2	382
KRTAP10-5	IGFL1	Q6UW32	375
KRTAP10-5	KRT26	Q7Z3Y9	370

IntAct

515 interactions, top by confidence:

A	B	Type	Score
LCE1B	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.780
KRTAP10-5	LCE1B	psi-mi:“MI:0915”(physical association)	0.780
LCE3C	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.740
KRTAP10-5	LCE3C	psi-mi:“MI:0915”(physical association)	0.740
GLRX3	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	KRTAP5-9	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP5-9	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	OTX1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	HOXA1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	CREB5	psi-mi:“MI:0915”(physical association)	0.720
ADAMTSL4	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	ZNF587	psi-mi:“MI:0915”(physical association)	0.720
KRTAP4-2	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	KRTAP3-2	psi-mi:“MI:0915”(physical association)	0.720
LCE3E	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
LCE2A	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	KRTAP4-2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-5	GLRX3	psi-mi:“MI:0915”(physical association)	0.720
OTX1	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
HOXA1	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
CREB5	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720
ZNF587	KRTAP10-5	psi-mi:“MI:0915”(physical association)	0.720

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: P60014, P60331, P60368, P60369, P60370, P60371, P60409, P60411, P60412, P60413, P60372

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 103 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	17	15.3×	5e-14
Formation of the cornified envelope	6	8.5×	2e-03

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	6	17.1×	3e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	51
Likely benign	8
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

455 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44580448:A:AC	donor_gain	0.9200
21:44580449:C:CC	donor_gain	0.9200
21:44580195:CTG:C	acceptor_gain	0.8800
21:44580499:CAG:C	donor_gain	0.8700
21:44580527:G:A	donor_gain	0.8500
21:44580498:A:AC	donor_gain	0.8300
21:44580499:C:CC	donor_gain	0.8300
21:44580504:G:C	donor_gain	0.7800
21:44580444:G:C	donor_gain	0.7600
21:44580038:CAGG:C	donor_gain	0.7100
21:44580198:C:CC	acceptor_gain	0.6500
21:44580240:CTG:C	acceptor_gain	0.6500
21:44580262:T:TA	donor_gain	0.6400
21:44579888:G:A	donor_gain	0.6100
21:44580203:A:T	acceptor_gain	0.6100
21:44580051:G:T	donor_gain	0.5900
21:44580069:CTG:C	acceptor_gain	0.5900
21:44580202:C:CT	acceptor_gain	0.5800
21:44580387:G:GA	donor_gain	0.5800
21:44579880:G:C	donor_gain	0.5700
21:44579743:T:TA	donor_gain	0.5600
21:44580063:G:C	donor_gain	0.5600
21:44580442:CAG:C	donor_gain	0.5500
21:44580055:G:C	donor_gain	0.5400
21:44580196:TG:T	acceptor_gain	0.5400
21:44580248:A:T	acceptor_gain	0.5400
21:44580267:A:AC	donor_gain	0.5400
21:44579690:AAC:A	donor_gain	0.5300
21:44580052:A:AC	donor_gain	0.5300
21:44580053:C:CC	donor_gain	0.5300

AlphaMissense

1745 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1001604209 (21:44582545 T>C,G), RS1005060412 (21:44581674 G>A), RS1006193265 (21:44582584 C>G,T), RS1010317045 (21:44582019 T>A), RS1013804378 (21:44582246 G>A), RS1014418464 (21:44580798 C>T), RS1014942625 (21:44582588 T>C), RS1015628271 (21:44582347 G>A,C), RS1019031415 (21:44581545 C>A,T), RS1022746611 (21:44580842 C>A,G,T), RS1023557610 (21:44581089 T>C,G), RS1027309059 (21:44581132 A>C,G), RS1028771541 (21:44581561 A>G), RS1030777183 (21:44581986 A>G), RS1034475461 (21:44582546 C>G,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
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
Catechin	affects cotreatment, increases expression	1
Valproic Acid	increases methylation	1
Magnetite Nanoparticles	increases expression	1

Clinical trials (associated diseases)

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