KRTAP17-1

Summary

KRTAP17-1 (keratin associated protein 17-1, HGNC:18917) is a protein-coding gene on chromosome 17q21.2, encoding Keratin-associated protein 17-1 (Q9BYP8). 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 protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the ultrahigh sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21.

Source: NCBI Gene 83902 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_031964

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18917
Approved symbol	KRTAP17-1
Name	keratin associated protein 17-1
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KAP17.1
Ensembl gene	ENSG00000186860
Ensembl biotype	protein_coding
Entrez	83902

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334202

RefSeq mRNA: 1 — MANE Select: NM_031964 NM_031964

CCDS: CCDS11387

Canonical transcript exons

ENST00000334202 — 1 exons

Exon	Start	End
ENSE00002433973	41314912	41315710

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 48.15.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0273 / max 18.3056, expressed in 5 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165886	0.0273	5

Top tissues by expression

116 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	48.15	silver quality
skin of abdomen	UBERON:0001416	42.00	gold quality
cortical plate	UBERON:0005343	40.95	gold quality
zone of skin	UBERON:0000014	39.97	gold quality
skin of leg	UBERON:0001511	38.74	gold quality
granulocyte	CL:0000094	38.71	gold quality
bone marrow cell	CL:0002092	38.63	gold quality
sural nerve	UBERON:0015488	38.01	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
endocervix	UBERON:0000458	34.50	gold quality
bone marrow	UBERON:0002371	34.31	gold quality
uterine cervix	UBERON:0000002	33.99	gold quality
ectocervix	UBERON:0012249	33.74	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	33.06	gold quality
placenta	UBERON:0001987	32.26	silver quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
smooth muscle tissue	UBERON:0001135	31.69	gold quality
leukocyte	CL:0000738	30.45	silver quality
body of uterus	UBERON:0009853	30.22	gold quality
monocyte	CL:0000576	30.05	silver quality
liver	UBERON:0002107	29.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.22	gold quality
right lung	UBERON:0002167	28.73	silver quality
myometrium	UBERON:0001296	28.38	silver quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	27.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting KRTAP17-1, 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-9983-3P	99.94	71.48	3631
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-6751-5P	99.56	64.99	1145
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-4284	99.36	65.25	1293
HSA-MIR-6803-5P	99.19	63.90	1026
HSA-MIR-4711-5P	98.89	68.00	965
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-4782-5P	98.35	69.33	1474
HSA-MIR-5706	98.35	69.33	1463
HSA-MIR-10226	98.25	66.50	811
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-450B-3P	97.56	66.12	512
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-4535	97.27	65.17	469
HSA-MIR-1202	97.19	66.43	827
HSA-MIR-3972	97.19	66.46	808
HSA-MIR-769-3P	97.06	64.83	464
HSA-MIR-1288-3P	96.86	66.95	536
HSA-MIR-659-5P	95.36	65.00	300
HSA-MIR-6808-3P	94.13	65.24	516

Literature-anchored findings (GeneRIF, showing 1)

• Recurrent mutation in a large family with pachyonychia congenita type 2 (PMID:18347808)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 17-1 — Q9BYP8 (reviewed: Q9BYP8)

Alternative names: Keratin-associated protein 16.1

All UniProt accessions (1): Q9BYP8

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.

RefSeq proteins (1): NP_114170* (*=MANE)

Domains & families (InterPro)

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BYP8-F1	49.81	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: 48 (showing top): PAX2_01, HFH3_01, HFH1_01, YNGTTNNNATT_UNKNOWN, TGGAAA_NFAT_Q4_01, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, MYB_Q6, PEDRIOLI_MIR31_TARGETS_UP, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, CCTNTMAGA_UNKNOWN, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, GSE14415_ACT_TCONV_VS_ACT_NATURAL_TREG_UP, GSE14415_FOXP3_KO_NATURAL_TREG_VS_TCONV_UP

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytosol (GO:0005829), 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 cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

436 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP17-1	KRTAP9-8	Q9BYQ0	621
KRTAP17-1	KRTAP9-7	A8MTY7	580
KRTAP17-1	KRTAP9-3	Q9BYQ3	507
KRTAP17-1	RANBP3L	Q86VV4	501
KRTAP17-1	PTPRN2	Q92932	497
KRTAP17-1	S100Z	Q8WXG8	495
KRTAP17-1	KRTAP9-4	Q9BYQ2	479
KRTAP17-1	FAM9C	Q8IZT9	478
KRTAP17-1	KRTAP9-1	A8MXZ3	470
KRTAP17-1	S100A3	P33764	458
KRTAP17-1	KRTAP4-1	Q9BYQ7	453
KRTAP17-1	KRTAP4-8	Q9BYQ9	447
KRTAP17-1	KRTAP4-3	Q9BYR4	435
KRTAP17-1	DGAT2L6	Q6ZPD8	421
KRTAP17-1	FAM181A	Q8N9Y4	417

IntAct

154 interactions, top by confidence:

A	B	Type	Score
LCE2B	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.600
KRTAP9-2	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
DOCK2	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-6	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
WNT11	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
GLP1R	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
CNNM3	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
CXCL16	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
VASN	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP17-1	GNE	psi-mi:“MI:0915”(physical association)	0.560
ZNF101	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
PRKAB2	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
CELF5	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP17-1	KRTAP4-11	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-11	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
LCE3A	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP17-1	ZNF696	psi-mi:“MI:0915”(physical association)	0.560
YY1	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
SPDYE6	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
LCE3C	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
LCE3D	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
ZDHHC1	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
LCE1E	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP17-1	KRTAP9-8	psi-mi:“MI:0915”(physical association)	0.560
KRTAP17-1	KRTAP4-4	psi-mi:“MI:0915”(physical association)	0.560
ZBTB25	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560
LCE4A	KRTAP17-1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (47): KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid), KRTAP17-1 (Two-hybrid)

ESM2 similar proteins: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF46, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, O14633, P02438, P04459, P05687, P05688, P08131, P08175, P0DSO2, P20730, Q01642, Q01643, Q01644, Q01645, Q07627, Q3LI58, Q3LI59, Q3V2C1, Q5T750, Q5T752, Q5T754, Q5TA78, Q5TA79, Q5TA81, Q5TA82, Q5TCM9, Q8IUC1, Q8IUG1, Q9BQ66, Q9BYP8, Q9BYQ5, Q9BYQ6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 46 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	16	27.0×	5e-18
Formation of the cornified envelope	9	24.0×	2e-09

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	9	52.7×	1e-11

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

390 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41315588:CTCT:C	donor_gain	0.9300
17:41315589:TCTT:T	donor_gain	0.9300
17:41315590:CTTC:C	donor_gain	0.9300
17:41315607:T:TA	donor_gain	0.9300
17:41315592:T:TA	donor_gain	0.8700
17:41315558:G:C	donor_gain	0.8600
17:41315592:TC:T	donor_gain	0.8500
17:41315608:C:CA	donor_gain	0.8500
17:41315588:CT:C	donor_gain	0.8400
17:41315578:G:T	donor_gain	0.8300
17:41315641:A:AC	donor_gain	0.8200
17:41315541:C:CT	donor_gain	0.8100
17:41315557:AGCAG:A	donor_gain	0.8000
17:41315453:T:TA	donor_gain	0.7900
17:41315562:C:CT	donor_gain	0.7900
17:41315449:AG:A	donor_gain	0.7500
17:41315587:A:AC	donor_gain	0.7500
17:41315588:C:CC	donor_gain	0.7500
17:41315462:T:TA	donor_gain	0.7400
17:41315579:A:AC	donor_gain	0.7400
17:41315580:C:CC	donor_gain	0.7400
17:41315580:CAG:C	donor_gain	0.7400
17:41315584:A:AC	donor_gain	0.7300
17:41315580:CAGCA:C	donor_gain	0.7200
17:41315540:G:GA	donor_gain	0.7100
17:41315561:G:C	donor_gain	0.7000
17:41315685:AG:A	donor_gain	0.7000
17:41315429:G:C	donor_gain	0.6900
17:41315459:G:GA	donor_gain	0.6900
17:41315540:G:C	donor_gain	0.6900

AlphaMissense

678 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41315627:G:C	C8W	0.971
17:41315582:G:C	C23W	0.970
17:41315615:G:C	C12W	0.970
17:41315639:G:C	C4W	0.969
17:41315587:A:G	C22R	0.966
17:41315629:A:G	C8R	0.966
17:41315585:G:C	C22W	0.964
17:41315644:A:G	C3R	0.964
17:41315640:C:G	C4S	0.963
17:41315641:A:T	C4S	0.963
17:41315595:C:G	C19S	0.962
17:41315596:A:T	C19S	0.962
17:41315641:A:G	C4R	0.961
17:41315584:A:G	C23R	0.959
17:41315597:G:C	C18W	0.959
17:41315595:C:T	C19Y	0.958
17:41315345:G:C	C102W	0.957
17:41315579:A:C	C24W	0.957
17:41315586:C:G	C22S	0.957
17:41315587:A:T	C22S	0.957
17:41315594:A:C	C19W	0.957
17:41315617:A:G	C12R	0.957
17:41315583:C:G	C23S	0.955
17:41315584:A:T	C23S	0.955
17:41315346:C:G	C102S	0.950
17:41315347:A:T	C102S	0.950
17:41315628:C:G	C8S	0.950
17:41315629:A:T	C8S	0.950
17:41315583:C:T	C23Y	0.949
17:41315365:A:G	C96R	0.948

dbSNP variants (sampled 300 via entrez): RS1000567803 (17:41314905 G>A), RS1002101991 (17:41315807 C>A,G,T), RS1002503848 (17:41315118 T>C), RS1002571540 (17:41317644 C>T), RS1002642884 (17:41316136 G>A,T), RS1004273382 (17:41316114 C>A,G), RS1004305921 (17:41315763 C>G), RS1004488484 (17:41314899 G>T), RS1004635977 (17:41317434 C>A), RS1004861315 (17:41315057 T>A), RS1008247583 (17:41314776 G>A,T), RS1008378638 (17:41315175 T>C), RS1008772442 (17:41317010 G>A), RS1010825593 (17:41316177 A>G,T), RS1011211532 (17:41316464 A>G)

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

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	increases methylation	1
Endosulfan	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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