KRTAP10-7

Summary

KRTAP10-7 (keratin associated protein 10-7, HGNC:22970) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-7 (P60409). 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 386675 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_198689

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22970
Approved symbol	KRTAP10-7
Name	keratin associated protein 10-7
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KAP10.7, KAP18.7
Ensembl gene	ENSG00000272804
Ensembl biotype	protein_coding
Entrez	386675

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000609664

RefSeq mRNA: 1 — MANE Select: NM_198689 NM_198689

CCDS: CCDS74803

Canonical transcript exons

ENST00000609664 — 1 exons

Exon	Start	End
ENSE00003707050	44600597	44602174

Expression profiles

Bgee: expression breadth tissue_specific, 10 present calls, max score 80.60.

Top tissues by expression

124 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	80.60	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	36.03	gold quality
sural nerve	UBERON:0015488	35.72	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
zone of skin	UBERON:0000014	34.69	gold quality
skin of leg	UBERON:0001511	33.85	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	31.12	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
right lung	UBERON:0002167	31.03	silver quality
blood	UBERON:0000178	29.95	gold quality
urinary bladder	UBERON:0001255	29.90	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.37	gold quality
right lobe of liver	UBERON:0001114	29.03	gold quality
monocyte	CL:0000576	28.69	gold quality
leukocyte	CL:0000738	28.59	gold quality
tonsil	UBERON:0002372	28.55	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
superior frontal gyrus	UBERON:0002661	26.92	gold quality
islet of Langerhans	UBERON:0000006	26.91	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting KRTAP10-7, 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-4531	99.99	69.70	3181
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-324-3P	99.26	66.31	1034
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-181A-2-3P	98.91	67.60	1168
HSA-MIR-5589-5P	98.34	64.82	1148
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-558	97.50	67.16	977
HSA-MIR-6861-5P	96.23	67.19	800

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 10-7 — P60409 (reviewed: P60409)

Alternative names: High sulfur keratin-associated protein 10.7, Keratin-associated protein 10.7, Keratin-associated protein 18-7, Keratin-associated protein 18.7

All UniProt accessions (1): P60409

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_941962* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (37 total): repeat 30, sequence variant 5, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60409-F1	35.41	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: 10 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR6132, MIR6836_5P, WP_VITAMIN_D_RECEPTOR_PATHWAY

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

248 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP10-7	KRTAP19-3	Q7Z4W3	581
KRTAP10-7	KRTAP12-3	P60328	580
KRTAP10-7	KRTAP9-8	Q9BYQ0	574
KRTAP10-7	KRTAP19-5	Q3LI72	526
KRTAP10-7	KRTAP19-1	Q8IUB9	507
KRTAP10-7	OR11A1	Q9GZK7	506
KRTAP10-7	OR1E1	P30953	473
KRTAP10-7	ZNF780A	O75290	471
KRTAP10-7	KRTAP7-1	Q8IUC3	445
KRTAP10-7	KRTAP8-1	Q8IUC2	420
KRTAP10-7	LCE2C	Q5TA81	406
KRTAP10-7	KRTAP2-3	P0C7H8	405
KRTAP10-7	DNHD1	Q96M86	400
KRTAP10-7	LCE2A	Q5TA79	400
KRTAP10-7	KRT38	O76015	396

IntAct

1070 interactions, top by confidence:

A	B	Type	Score
KRTAP10-7	LCE1B	psi-mi:“MI:0915”(physical association)	0.780
KRTAP10-7	ZSCAN26	psi-mi:“MI:0915”(physical association)	0.740
KRTAP10-7	ZBTB9	psi-mi:“MI:0915”(physical association)	0.740
KRTAP10-7	TOR1A	psi-mi:“MI:0915”(physical association)	0.720
SUV39H1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
SPRY1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	PRKAB2	psi-mi:“MI:0915”(physical association)	0.720
MAPKBP1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
FARS2	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
GSTP1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	BUD31	psi-mi:“MI:0915”(physical association)	0.720
SMCP	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
GEM	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	KRTAP12-1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	NUFIP2	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-9	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	GABARAPL2	psi-mi:“MI:0915”(physical association)	0.720
PIN1	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KLHL38	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	LCE3E	psi-mi:“MI:0915”(physical association)	0.720
LCE4A	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	KRTAP5-6	psi-mi:“MI:0915”(physical association)	0.720
DHX57	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
NAXD	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	ZNF101	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	ZNF417	psi-mi:“MI:0915”(physical association)	0.720
ZNF564	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-7	PTPMT1	psi-mi:“MI:0915”(physical association)	0.720
IGSF8	KRTAP10-7	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (354): KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-7 (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, P60370, P60411, P60412

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 185 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	14	6.7×	3e-06

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	45
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

399 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44601672:C:A	acceptor_gain	0.7800
21:44601681:T:G	acceptor_gain	0.7200
21:44600663:C:G	donor_gain	0.7000
21:44601430:GCT:G	donor_gain	0.6900
21:44600718:C:T	donor_gain	0.6800
21:44600799:G:GG	donor_gain	0.6400
21:44601680:AT:A	acceptor_gain	0.6300
21:44601433:G:GG	donor_gain	0.6200
21:44601806:C:CA	acceptor_gain	0.6200
21:44601681:T:TA	acceptor_gain	0.6100
21:44601669:T:TA	acceptor_gain	0.6000
21:44600798:A:AG	donor_gain	0.5800
21:44601607:G:GA	acceptor_gain	0.5800
21:44601746:A:AC	acceptor_gain	0.5800
21:44601365:TTC:T	donor_gain	0.5700
21:44601604:G:GA	acceptor_gain	0.5700
21:44601680:A:AG	acceptor_gain	0.5700
21:44600655:G:GT	donor_gain	0.5600
21:44601362:C:CA	acceptor_gain	0.5600
21:44601727:GCTGC:G	donor_gain	0.5500
21:44601464:T:TA	acceptor_gain	0.5400
21:44601046:A:AG	donor_gain	0.5300
21:44601047:G:GG	donor_gain	0.5300
21:44601719:G:GT	donor_gain	0.5200
21:44601151:GCTGT:G	donor_gain	0.5100
21:44601325:A:G	acceptor_gain	0.5100
21:44601437:GCCT:G	donor_gain	0.5100
21:44601465:G:A	acceptor_gain	0.5100
21:44600671:GCCGC:G	donor_gain	0.5000
21:44601605:C:A	acceptor_gain	0.5000

AlphaMissense

2397 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44600717:G:C	W32C	0.840
21:44600717:G:T	W32C	0.840
21:44600739:A:C	S40R	0.736
21:44600741:C:A	S40R	0.736
21:44600741:C:G	S40R	0.736
21:44601558:T:C	C313R	0.732
21:44600715:T:A	W32R	0.720
21:44600715:T:C	W32R	0.720
21:44601560:C:G	C313W	0.689
21:44601558:T:A	C313S	0.658
21:44601559:G:C	C313S	0.658
21:44601669:T:C	C350R	0.643
21:44600661:A:C	S14R	0.640
21:44600663:C:A	S14R	0.640
21:44600663:C:G	S14R	0.640
21:44601671:C:G	C350W	0.617
21:44601669:T:A	C350S	0.590
21:44601670:G:C	C350S	0.590
21:44600732:C:G	C37W	0.586
21:44601570:T:C	C317R	0.583
21:44601633:A:C	S338R	0.581
21:44601635:C:A	S338R	0.581
21:44601635:C:G	S338R	0.581
21:44600670:A:C	S17R	0.576
21:44600672:C:A	S17R	0.576
21:44600672:C:G	S17R	0.576
21:44600679:T:C	C20R	0.576
21:44600730:T:C	C37R	0.576
21:44601437:G:C	K272N	0.569
21:44601437:G:T	K272N	0.569

dbSNP variants (sampled 300 via entrez): RS1001229475 (21:44598809 C>T), RS1001597377 (21:44599103 T>C), RS1003305035 (21:44600178 G>A), RS1006100170 (21:44599125 G>A), RS1007822210 (21:44599891 G>A), RS1009031332 (21:44601982 C>T), RS1009087302 (21:44602235 C>T), RS1009903726 (21:44598710 T>C), RS1010521966 (21:44602241 G>A), RS1010572853 (21:44602400 T>C,G), RS1012937136 (21:44601867 G>A), RS1014803433 (21:44598839 C>G), RS1017369509 (21:44601983 G>A,T), RS1017755657 (21:44602237 G>C), RS1018787444 (21:44599512 C>A,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

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

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

Clinical trials (associated diseases)

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