KRTAP10-10

Summary

KRTAP10-10 (keratin associated protein 10-10, HGNC:22972) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-10 (P60014). 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 353333 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_181688

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22972
Approved symbol	KRTAP10-10
Name	keratin associated protein 10-10
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KAP10.10, KAP18.10, KRTAP18-10
Ensembl gene	ENSG00000221859
Ensembl biotype	protein_coding
Entrez	353333

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000380095

RefSeq mRNA: 1 — MANE Select: NM_181688 NM_181688

CCDS: CCDS33585

Canonical transcript exons

ENST00000380095 — 1 exons

Exon	Start	End
ENSE00001483712	44637356	44638455

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 76.54.

Top tissues by expression

120 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	76.54	silver quality
sural nerve	UBERON:0015488	43.97	gold quality
colonic epithelium	UBERON:0000397	41.71	gold quality
skin of abdomen	UBERON:0001416	36.58	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
zone of skin	UBERON:0000014	35.63	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skin of leg	UBERON:0001511	35.14	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
liver	UBERON:0002107	31.21	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
urinary bladder	UBERON:0001255	31.05	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.22	gold quality
right lung	UBERON:0002167	28.65	silver quality
tonsil	UBERON:0002372	28.62	gold quality
right lobe of liver	UBERON:0001114	28.61	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.68	gold quality
leukocyte	CL:0000738	27.67	gold quality
lymph node	UBERON:0000029	27.57	gold quality
muscle of leg	UBERON:0001383	26.92	silver quality
kidney	UBERON:0002113	26.62	silver quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gastrocnemius	UBERON:0001388	26.15	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting KRTAP10-10, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-1237-3P	98.55	67.65	1423
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-1298-3P	94.05	64.84	620

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), KRTAP12-2 (ENSG00000221864), KRTAP1-3 (ENSG00000221880), KRTAP9-2 (ENSG00000239886), KRTAP9-1 (ENSG00000240542), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 10-10 — P60014 (reviewed: P60014)

Alternative names: High sulfur keratin-associated protein 10.10, Keratin-associated protein 10.10, Keratin-associated protein 18-10, Keratin-associated protein 18.10

All UniProt accessions (1): P60014

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_859016* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (24 total): repeat 15, sequence variant 7, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60014-F1	38.05	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: 9 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR4731_5P, GSE2770_IL12_VS_IL4_TREATED_ACT_CD4_TCELL_2H_UP

GO Biological Process (0):

GO Molecular Function (1): 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
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP10-10	KRTAP6-1	Q3LI64	582
KRTAP10-10	UMODL1	Q5DID0	471
KRTAP10-10	KRT9	P35527	349
KRTAP10-10	ITGA9	Q13797	273
KRTAP10-10	ROPN1L	Q96C74	245
KRTAP10-10	NRIP1	P48552	239
KRTAP10-10	YY1AP1	Q9H869	227
KRTAP10-10	RBM11	P57052	227
KRTAP10-10	BCL7B	Q9BQE9	224
KRTAP10-10	PCBP3	P57721	220
KRTAP10-10	UBE2Q1	Q7Z7E8	213
KRTAP10-10	DIP2A	Q14689	212
KRTAP10-10	DOK4	Q8TEW6	207
KRTAP10-10	NOTCH2NLB	P0DPK3	199
KRTAP10-10	TRAFD1	O14545	197

IntAct

68 interactions, top by confidence:

A	B	Type	Score
HOXA1	KRTAP10-10	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	KRTAP10-10	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	CREB5	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	KRTAP10-10	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	CSNK1G3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-9	KRTAP10-10	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	KRTAP9-3	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	CTSZ	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	ZNF587	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	KRTAP4-4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	CATSPER1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	LCE3B	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	ZNF473	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	LCE2C	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	LCE1E	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	LCE1F	psi-mi:“MI:0915”(physical association)	0.560
NDUFB7	KRTAP10-10	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	AXIN2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-10	ECE1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	KRTAP10-10	psi-mi:“MI:0915”(physical association)	0.370
KRTAP10-10	HOXA1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP10-10	CYSRT1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP10-10	CREB5	psi-mi:“MI:0915”(physical association)	0.000
KRTAP10-10	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
KRTAP10-10	CSNK1G3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (Two-hybrid), KRTAP10-10 (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: P60014, P60331, P60368, P60369, P60370, P60371, P60409, P60411, P60412, P60413, P60372, A6QP35, P60410

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 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	9	27.9×	3e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

63 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	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

241 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44637473:T:TA	donor_gain	0.8600
21:44637474:A:AA	donor_gain	0.8600
21:44637611:GC:G	donor_gain	0.7600
21:44637550:G:GG	donor_gain	0.7100
21:44637549:A:AG	donor_gain	0.7000
21:44637475:G:GG	donor_gain	0.6400
21:44638044:C:CA	acceptor_gain	0.6300
21:44638111:C:A	acceptor_gain	0.6300
21:44638009:TGC:T	donor_gain	0.6200
21:44638011:C:T	donor_gain	0.6000
21:44638013:A:G	acceptor_gain	0.6000
21:44637869:GCTC:G	donor_gain	0.5900
21:44638108:T:A	acceptor_gain	0.5700
21:44638182:G:GT	donor_gain	0.5700
21:44637695:C:T	donor_gain	0.5600
21:44637469:C:T	donor_gain	0.5500
21:44637555:C:G	donor_gain	0.5500
21:44637872:C:G	donor_gain	0.5500
21:44638158:G:GT	donor_gain	0.5500
21:44637540:C:A	donor_gain	0.5400
21:44637694:GCC:G	donor_gain	0.5400
21:44637872:C:CG	donor_gain	0.5400
21:44638007:TGTGC:T	donor_gain	0.5400
21:44638043:G:GA	acceptor_gain	0.5400
21:44638010:GCA:G	donor_gain	0.5300
21:44637582:GGCCT:G	donor_gain	0.5200
21:44637583:GCCTG:G	donor_gain	0.5200
21:44638192:G:GT	donor_gain	0.5100
21:44637554:GCT:G	donor_gain	0.5000
21:44637612:C:T	donor_gain	0.4900

AlphaMissense

1621 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44637422:C:T	A2V	0.589

dbSNP variants (sampled 300 via entrez): RS1000122245 (21:44636283 T>C), RS1002133613 (21:44638621 C>T), RS1002164686 (21:44638763 G>A), RS1004912027 (21:44638789 C>G), RS1005370368 (21:44635457 G>A), RS1008879900 (21:44635697 C>T), RS1009603480 (21:44635543 C>T), RS1011094456 (21:44635742 A>G), RS1012032140 (21:44636361 A>G), RS1014068537 (21:44638730 A>G), RS1023265449 (21:44636175 C>T), RS1023802943 (21:44636374 A>G), RS1025222076 (21:44638021 T>G), RS1026238725 (21:44635517 A>G), RS1027213799 (21:44638623 G>A)

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
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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