KRTAP10-11

Summary

KRTAP10-11 (keratin associated protein 10-11, HGNC:20528) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-11 (P60412). 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 386678 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 86 total — 1 pathogenic
• MANE Select transcript: NM_198692

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20528
Approved symbol	KRTAP10-11
Name	keratin associated protein 10-11
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP18.11, KAP18.11, KAP10.11
Ensembl gene	ENSG00000243489
Ensembl biotype	protein_coding
Entrez	386678

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334670

RefSeq mRNA: 1 — MANE Select: NM_198692 NM_198692

CCDS: CCDS42962

Canonical transcript exons

ENST00000334670 — 1 exons

Exon	Start	End
ENSE00001433049	44646414	44647650

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 68.18.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	68.18	gold quality
secondary oocyte	CL:0000655	67.73	gold quality
mucosa of paranasal sinus	UBERON:0005030	63.69	gold quality
epithelium of nasopharynx	UBERON:0001951	63.08	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	62.87	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	62.78	gold quality
superficial temporal artery	UBERON:0001614	62.73	gold quality
cerebellar vermis	UBERON:0004720	61.77	gold quality
quadriceps femoris	UBERON:0001377	59.31	gold quality
skin of hip	UBERON:0001554	59.21	silver quality
sperm	CL:0000019	59.04	gold quality
thymus	UBERON:0002370	58.88	gold quality
vena cava	UBERON:0004087	58.16	silver quality
vastus lateralis	UBERON:0001379	58.10	gold quality
gingival epithelium	UBERON:0001949	58.09	gold quality
upper leg skin	UBERON:0004262	58.08	silver quality
buccal mucosa cell	CL:0002336	57.93	gold quality
germinal epithelium of ovary	UBERON:0001304	57.33	gold quality
synovial joint	UBERON:0002217	57.10	gold quality
biceps brachii	UBERON:0001507	57.06	gold quality
superior surface of tongue	UBERON:0007371	56.94	gold quality
mammary duct	UBERON:0001765	56.42	gold quality
body of tongue	UBERON:0011876	56.42	gold quality
endothelial cell	CL:0000115	56.23	gold quality
tongue	UBERON:0001723	56.15	gold quality
layer of synovial tissue	UBERON:0007616	56.04	gold quality
saphenous vein	UBERON:0007318	55.65	gold quality
subthalamic nucleus	UBERON:0001906	55.53	gold quality
pericardium	UBERON:0002407	55.44	gold quality
gingiva	UBERON:0001828	55.39	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)

25 targeting KRTAP10-11, 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-4283	100.00	66.42	2097
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-6893-3P	97.79	64.91	1238
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-2278	97.30	66.19	1130
HSA-MIR-370-3P	97.09	64.92	1221
HSA-MIR-3165	96.18	66.22	473

Cross-species orthologs

51 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap9-3	ENSMUSG00000049809
mus_musculus	Krtap5-2	ENSMUSG00000054759
mus_musculus	Krtap5-20	ENSMUSG00000056885
mus_musculus	Krtap2-22	ENSMUSG00000057674
mus_musculus	Krtap2-21	ENSMUSG00000058725
mus_musculus	Krtap2-4	ENSMUSG00000060756
mus_musculus	Krtap2-20	ENSMUSG00000062278
mus_musculus	Krtap10-4	ENSMUSG00000069582
mus_musculus	Krtap12-1	ENSMUSG00000069583
mus_musculus	Krtap12-23	ENSMUSG00000069584
mus_musculus	Krtap10-31	ENSMUSG00000071195
mus_musculus	Krtap1-4	ENSMUSG00000075567
mus_musculus	Krtap1-3	ENSMUSG00000078131
mus_musculus	Krtap9-5	ENSMUSG00000078255
mus_musculus	Krtap12-22	ENSMUSG00000094012
mus_musculus	Krtap10-21	ENSMUSG00000094120
mus_musculus	Krtap12-21	ENSMUSG00000094146
mus_musculus	Krtap10-27	ENSMUSG00000094913
mus_musculus	Krtap10-26	ENSMUSG00000095593
mus_musculus	Krtap10-25	ENSMUSG00000095721
mus_musculus	Krtap10-22	ENSMUSG00000095817
mus_musculus	Krtap10-33	ENSMUSG00000095970
mus_musculus	Krtap10-29	ENSMUSG00000096131
mus_musculus	Krtap10-34	ENSMUSG00000096380
mus_musculus	Krtap12-20	ENSMUSG00000096421
mus_musculus	Krtap10-23	ENSMUSG00000096481
mus_musculus	Krtap5-26	ENSMUSG00000109859
mus_musculus	Krtap5-24	ENSMUSG00000110324
mus_musculus	Krtap10-24	ENSMUSG00000111915
mus_musculus	Krtap10-28	ENSMUSG00000112170
mus_musculus	Krtap10-10	ENSMUSG00000112223
mus_musculus	Krtap10-30	ENSMUSG00000112380
mus_musculus	Gm49918	ENSMUSG00000112600
mus_musculus	Krtap10-35	ENSMUSG00000112653
mus_musculus	Krtap10-32	ENSMUSG00000112864
rattus_norvegicus	Krtap10-8l1	ENSRNOG00000001218
rattus_norvegicus	Krtap1-1	ENSRNOG00000012955
rattus_norvegicus	Krtap5-8	ENSRNOG00000020131
rattus_norvegicus	Krtap10-10	ENSRNOG00000032530
rattus_norvegicus	Krtap10-9	ENSRNOG00000043302
rattus_norvegicus	Krtap10-1l1	ENSRNOG00000046538
rattus_norvegicus	AABR07006049.1	ENSRNOG00000046649
rattus_norvegicus	Krtap10-1	ENSRNOG00000047532
rattus_norvegicus	Krtap1-3	ENSRNOG00000052388
rattus_norvegicus	LOC120098854	ENSRNOG00000067436
rattus_norvegicus	Krtap10-10l2	ENSRNOG00000069553
rattus_norvegicus		ENSRNOG00000071951
rattus_norvegicus	Krtap2-4	ENSRNOG00000078178
rattus_norvegicus		ENSRNOG00000083452
rattus_norvegicus		ENSRNOG00000088018
rattus_norvegicus		ENSRNOG00000091097

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 10-11 — P60412 (reviewed: P60412)

Alternative names: High sulfur keratin-associated protein 10.11, Keratin-associated protein 10.11, Keratin-associated protein 18-11, Keratin-associated protein 18.11

All UniProt accessions (1): P60412

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_941965* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (30 total): repeat 25, sequence conflict 2, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60412-F1	36.17	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, MIR6825_5P, KANNAN_BLOOD_2012_2013_TIV_AGE_65PLS_REVACCINATED_IN_6_9_MO_VS_REVACCINATED_IN_12_13_MO_UP, GSE19772_CTRL_VS_HCMV_INF_MONOCYTES_DN

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

236 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP10-11	KRTAP19-3	Q7Z4W3	610
KRTAP10-11	KRTAP19-5	Q3LI72	580
KRTAP10-11	KRTAP19-1	Q8IUB9	571
KRTAP10-11	OR1E1	P30953	507
KRTAP10-11	KRTAP7-1	Q8IUC3	481
KRTAP10-11	KRTAP8-1	Q8IUC2	474
KRTAP10-11	KRTAP2-3	P0C7H8	447
KRTAP10-11	LCE2A	Q5TA79	447
KRTAP10-11	LCE2C	Q5TA81	447
KRTAP10-11	IQCF2	Q8IXL9	444
KRTAP10-11	KRT38	O76015	437
KRTAP10-11	IQCF5	A8MTL0	418
KRTAP10-11	PRB3	Q04118	418
KRTAP10-11	KRTAP13-2	Q52LG2	412
KRTAP10-11	IGFL1	Q6UW32	403

IntAct

149 interactions, top by confidence:

A	B	Type	Score
KRTAP5-9	KRTAP10-11	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-11	OTX1	psi-mi:“MI:0915”(physical association)	0.720
HOXA1	KRTAP10-11	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-11	CREB5	psi-mi:“MI:0915”(physical association)	0.720
CATSPER1	KRTAP10-11	psi-mi:“MI:0915”(physical association)	0.720
KRTAP9-2	KRTAP10-11	psi-mi:“MI:0915”(physical association)	0.720
OTX1	KRTAP10-11	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-11	CATSPER1	psi-mi:“MI:0915”(physical association)	0.720
KRTAP10-11	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.720
GLRX3	KRTAP10-11	psi-mi:“MI:0915”(physical association)	0.600
KRTAP10-11	GLRX3	psi-mi:“MI:0915”(physical association)	0.600
MEOX2	KRTAP10-11	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (72): KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), KRTAP10-11 (Two-hybrid), NOTCH2NL (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 39 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	13	25.9×	5e-14
Formation of the cornified envelope	5	15.7×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	5	37.8×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	63
Likely benign	22
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	Pathogenic

SpliceAI

402 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44647378:T:A	acceptor_gain	0.8700
21:44647390:T:TA	acceptor_gain	0.7700
21:44647398:A:G	acceptor_gain	0.7600
21:44646515:G:GA	donor_gain	0.7300
21:44646514:T:TA	donor_gain	0.7200
21:44647055:C:T	donor_gain	0.7200
21:44647190:GTGCA:G	acceptor_loss	0.7200
21:44647191:TGCAG:T	acceptor_loss	0.7200
21:44647192:GCAGG:G	acceptor_loss	0.7200
21:44647193:CA:C	acceptor_loss	0.7200
21:44647194:A:AC	acceptor_loss	0.7200
21:44646535:GCT:G	donor_gain	0.7000
21:44647393:T:A	acceptor_gain	0.6900
21:44646606:G:GG	donor_gain	0.6800
21:44647398:AGCAG:A	acceptor_loss	0.6800
21:44647400:CAG:C	acceptor_loss	0.6800
21:44647401:A:G	acceptor_loss	0.6800
21:44647382:T:A	acceptor_gain	0.6700
21:44647401:A:AG	acceptor_gain	0.6700
21:44647402:G:GG	acceptor_gain	0.6700
21:44646510:C:T	donor_gain	0.6600
21:44646605:A:AG	donor_gain	0.6600
21:44647179:T:A	acceptor_gain	0.6600
21:44647397:A:AG	acceptor_gain	0.6600
21:44646538:G:GG	donor_gain	0.6500
21:44647183:A:AG	acceptor_gain	0.6500
21:44647183:ACCCC:A	acceptor_gain	0.6500
21:44647022:C:G	donor_gain	0.6100
21:44647351:GC:G	donor_gain	0.6100
21:44647375:T:TA	acceptor_gain	0.6000

AlphaMissense

1926 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44646675:A:C	S73R	0.695
21:44646677:C:A	S73R	0.695
21:44646677:C:G	S73R	0.695
21:44646708:A:C	S84R	0.688
21:44646710:C:A	S84R	0.688
21:44646710:C:G	S84R	0.688
21:44646531:A:C	S25R	0.648
21:44646533:C:A	S25R	0.648
21:44646533:C:G	S25R	0.648
21:44646463:C:T	A2V	0.645
21:44646509:G:C	W17C	0.609
21:44646509:G:T	W17C	0.609
21:44646609:A:C	S51R	0.592
21:44646611:C:A	S51R	0.592
21:44646611:C:G	S51R	0.592
21:44646489:A:C	S11R	0.577
21:44646491:C:A	S11R	0.577
21:44646491:C:G	S11R	0.577

dbSNP variants (sampled 300 via entrez): RS1000952779 (21:44647970 G>C), RS1001453725 (21:44645215 G>T), RS1004394366 (21:44644645 T>A), RS1005369576 (21:44647898 C>T), RS1006076242 (21:44645315 T>C), RS1007379464 (21:44646034 A>G), RS1009834561 (21:44645144 C>G), RS1010139150 (21:44644933 T>G), RS1011506624 (21:44646321 T>C,G), RS1011815553 (21:44646048 C>G,T), RS1012697434 (21:44646379 G>A), RS1014766570 (21:44647155 C>A), RS1016030072 (21:44646553 G>A), RS1017031830 (21:44645571 C>G,T), RS1017729401 (21:44646879 T>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): myoepithelial tumor (MONDO:0002380)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D009208	Myoepithelioma	C04.557.435.585

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases 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)

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

Trial	Phase	Status	Title
NCT03600649	PHASE1	UNKNOWN	Clinical Trial of SP-2577 (Seclidemstat) in Patients With Relapsed or Refractory Ewing or Ewing-related Sarcomas
NCT05266196	PHASE1/PHASE2	UNKNOWN	A Rollover Protocol to Allow for Continued Access to the LSD1 Inhibitor Seclidemstat (SP-2577)
NCT06239272	PHASE1/PHASE2	RECRUITING	NRSTS2021, A Risk Adapted Study Evaluating Maintenance Pazopanib, Limited Margin, Dose-Escalated Radiation Therapy and Selinexor in Non-Rhabdomyosarcoma Soft Tissue Sarcoma (NRSTS)
NCT06625190	PHASE1/PHASE2	RECRUITING	Alpha/Beta T and B Cell Depletion With Zoledronic Acid for Solid Tumors
NCT06244420	Not specified	COMPLETED	Malignant Myoepithelioma of Bone and Soft Tissues: Diagnostic Imaging and Histology in Relation to Prognosis