KRTAP10-12

Summary

KRTAP10-12 (keratin associated protein 10-12, HGNC:20533) is a protein-coding gene on chromosome 21q22.3, encoding Keratin-associated protein 10-12 (P60413). 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 386685 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 70 total — 1 pathogenic
• MANE Select transcript: NM_198699

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20533
Approved symbol	KRTAP10-12
Name	keratin associated protein 10-12
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP18.12, KAP10.12
Ensembl gene	ENSG00000189169
Ensembl biotype	protein_coding
Entrez	386685

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000400365

RefSeq mRNA: 1 — MANE Select: NM_198699 NM_198699

CCDS: CCDS42967

Canonical transcript exons

ENST00000400365 — 1 exons

Exon	Start	End
ENSE00001542603	44697172	44698044

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 89.01.

Top tissues by expression

104 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	89.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	46.54	silver 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	35.96	gold quality
skeletal muscle tissue	UBERON:0001134	35.85	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
zone of skin	UBERON:0000014	35.08	gold quality
skin of leg	UBERON:0001511	34.58	gold quality
muscle tissue	UBERON:0002385	32.88	gold quality
cortex of kidney	UBERON:0001225	32.20	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
right lung	UBERON:0002167	30.34	silver quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.74	gold quality
prefrontal cortex	UBERON:0000451	29.22	gold quality
leukocyte	CL:0000738	29.17	silver quality
monocyte	CL:0000576	28.30	gold quality
duodenum	UBERON:0002114	28.14	gold quality
blood	UBERON:0000178	27.95	gold quality
lymph node	UBERON:0000029	27.57	gold quality
right coronary artery	UBERON:0001625	27.56	gold quality
tonsil	UBERON:0002372	27.05	gold quality
right lobe of liver	UBERON:0001114	26.75	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
kidney	UBERON:0002113	26.47	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting KRTAP10-12, 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-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-4447	99.85	67.81	2900
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-4727-3P	96.75	64.97	415

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), 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 10-12 — P60413 (reviewed: P60413)

Alternative names: High sulfur keratin-associated protein 10.12, Keratin-associated protein 10.12, Keratin-associated protein 18-12, Keratin-associated protein 18.12

All UniProt accessions (1): P60413

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_941972* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (23 total): repeat 19, sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P60413-F1	39.25	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: 11 (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, ZAK_PBMC_MRKAD5_HIV_1_GAG_POL_NEF_AGE_20_50YO_CORRELATED_WITH_CD8_T_CELL_RESPONSE_3DY_NEGATIVE, GSE41867_DAY6_VS_DAY15_LCMV_CLONE13_EFFECTOR_CD8_TCELL_UP, GSE46242_TH1_VS_ANERGIC_TH1_CD4_TCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

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
cytoplasm	1
cellular anatomical structure	1
intermediate filament	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

86 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP10-12	ATE1	O95260	358
KRTAP10-12	MAZ	P56270	353
KRTAP10-12	SIGLEC14	Q08ET2	350
KRTAP10-12	CCNG2	Q16589	348
KRTAP10-12	CARM1	Q86X55	295
KRTAP10-12	DEFA4	P12838	294
KRTAP10-12	HERC5	Q9UII4	224
KRTAP10-12	FOLR3	P41439	219
KRTAP10-12	IFI44L	Q53G44	201
KRTAP10-12	IFI27	P40305	195
KRTAP10-12	MED12	Q93074	189
KRTAP10-12	CCNL1	Q9UK58	184
KRTAP10-12	CDKN1B	P46527	181
KRTAP10-12	LIAT1	Q6ZQX7	180
KRTAP10-12	RSAD2	Q8WXG1	164
KRTAP10-12	UBAP2L	Q14157	164

IntAct

5 interactions, top by confidence:

A	B	Type	Score
KRTAP10-12	ECE1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	KRTAP10-12	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (1): KRTAP10-12 (Protein-RNA)

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	61
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4279264	GRCh37/hg19 21q22.3(chr21:46110936-46149841)x1	Pathogenic

SpliceAI

271 predictions. Top by Δscore:

Variant	Effect	Δscore
21:44697228:C:G	donor_gain	0.8800
21:44697283:C:T	donor_gain	0.8700
21:44697287:TGG:T	donor_gain	0.7800
21:44697364:G:GG	donor_gain	0.7800
21:44697363:A:AG	donor_gain	0.7400
21:44697397:ACCT:A	donor_gain	0.7000
21:44697647:A:AG	acceptor_gain	0.6900
21:44697648:G:GG	acceptor_gain	0.6900
21:44697220:G:GT	donor_gain	0.6600
21:44697177:AACCC:A	donor_gain	0.6400
21:44697289:GAC:G	donor_gain	0.6100
21:44697672:C:T	donor_gain	0.6100
21:44697264:C:G	donor_gain	0.6000
21:44697401:G:GG	donor_gain	0.5900
21:44697177:AACC:A	donor_gain	0.5800
21:44697306:C:G	donor_gain	0.5700
21:44697236:GCCGC:G	donor_gain	0.5500
21:44697249:T:TA	donor_gain	0.5500
21:44697405:G:GT	donor_gain	0.5500
21:44697509:C:T	donor_gain	0.5500
21:44697549:GCCT:G	donor_gain	0.5500
21:44697513:C:G	donor_gain	0.5300
21:44697177:AAC:A	donor_gain	0.5200
21:44697196:TCC:T	donor_gain	0.5200
21:44697368:GCCGT:G	donor_gain	0.5200
21:44697400:T:TG	donor_gain	0.5200
21:44697425:G:GT	donor_gain	0.5200
21:44697546:C:T	donor_gain	0.5200
21:44697315:G:GT	donor_gain	0.5000
21:44697558:CT:C	donor_gain	0.5000

AlphaMissense

1578 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:44697282:G:C	W27C	0.682
21:44697282:G:T	W27C	0.682
21:44697304:A:C	S35R	0.624
21:44697306:C:A	S35R	0.624
21:44697306:C:G	S35R	0.624
21:44697226:A:C	S9R	0.583
21:44697228:C:A	S9R	0.583
21:44697228:C:G	S9R	0.583

dbSNP variants (sampled 300 via entrez): RS1000534138 (21:44695605 T>A), RS1001898765 (21:44696587 T>C), RS1002571000 (21:44698271 C>A), RS1003571584 (21:44697411 C>G,T), RS1004144569 (21:44696853 C>G,T), RS1005766456 (21:44697442 A>C), RS1007612888 (21:44697052 A>G), RS1011700482 (21:44698062 T>C), RS1012791505 (21:44698145 C>G), RS1013751570 (21:44696278 A>C), RS1019533861 (21:44695246 C>A), RS1020228702 (21:44697788 C>T), RS1020951919 (21:44697123 C>G,T), RS1025052510 (21:44696009 T>C), RS1026142576 (21:44698533 G>C)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:614861

GenCC curated gene-disease

Mondo (1): autosomal recessive nonsyndromic hearing loss 98 (MONDO:0013929)

Orphanet (1): Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636)

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

5 total (human), top 5 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	affects 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.