KRTAP11-1

gene

On this page

Also known as KAP11.1

Summary

KRTAP11-1 (keratin associated protein 11-1, HGNC:18922) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 11-1 (Q8IUC1). 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 enable structural molecule activity. Predicted to be located in cytosol.

Source: NCBI Gene 337880 — RefSeq curated summary.

At a glance

GWAS associations: 1
Clinical variants (ClinVar): 27 total
MANE Select transcript: NM_175858

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18922
Approved symbol	KRTAP11-1
Name	keratin associated protein 11-1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP11.1
Ensembl gene	ENSG00000182591
Ensembl biotype	protein_coding
OMIM	600064
Entrez	337880

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000332378

RefSeq mRNA: 1 — MANE Select: NM_175858 NM_175858

CCDS: CCDS13608

Canonical transcript exons

ENST00000332378 — 1 exons

Exon	Start	End
ENSE00001329933	30880644	30881580

Expression profiles

Bgee: expression breadth broad, 87 present calls, max score 77.44.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1661 / max 174.8499, expressed in 14 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190131	0.1661	14

Top tissues by expression

227 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	77.44	silver quality
oocyte	CL:0000023	57.73	gold quality
upper leg skin	UBERON:0004262	54.39	silver quality
epithelium of nasopharynx	UBERON:0001951	53.85	gold quality
zone of skin	UBERON:0000014	53.02	gold quality
skin of abdomen	UBERON:0001416	52.98	gold quality
skin of leg	UBERON:0001511	50.79	gold quality
nipple	UBERON:0002030	50.05	gold quality
sperm	CL:0000019	49.81	gold quality
right lung	UBERON:0002167	44.53	gold quality
penis	UBERON:0000989	44.07	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
subthalamic nucleus	UBERON:0001906	43.27	gold quality
mammalian vulva	UBERON:0000997	43.15	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
ventral tegmental area	UBERON:0002691	42.02	gold quality
vastus lateralis	UBERON:0001379	41.78	gold quality
dorsal root ganglion	UBERON:0000044	41.73	gold quality
quadriceps femoris	UBERON:0001377	41.73	gold quality
trigeminal ganglion	UBERON:0001675	41.39	gold quality
oviduct epithelium	UBERON:0004804	41.35	gold quality
dorsal plus ventral thalamus	UBERON:0001897	41.34	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
palpebral conjunctiva	UBERON:0001812	41.10	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
skin of hip	UBERON:0001554	40.60	silver quality
jejunal mucosa	UBERON:0000399	40.59	gold quality
biceps brachii	UBERON:0001507	40.57	gold quality
bone marrow cell	CL:0002092	40.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting KRTAP11-1, 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-1193	100.00	65.93	529
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-6838-5P	99.89	71.94	2690
HSA-MIR-424-5P	99.89	71.90	2641
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-580-3P	99.67	69.23	1841
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-657	99.48	66.02	848
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-4463	98.56	66.05	1071
HSA-MIR-211-3P	98.14	66.77	1052
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-4309	97.84	65.45	588
HSA-MIR-6858-3P	96.37	64.41	771
HSA-MIR-3937	87.69	61.61	103

Literature-anchored findings (GeneRIF, showing 2)

The KRTAP11-1 promoter is activated by Trichostatin A (TSA) treatment and by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
Expressed and purified are a high sulfur KAP (KAP11.1) and a high glycine-tyrosine KAP (KAP6.1). (PMID:29391282)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap11-1	ENSMUSG00000091212
rattus_norvegicus	Krtap11-1	ENSRNOG00000027478

Paralogs (8): KRTAP13-2 (ENSG00000182816), KRTAP15-1 (ENSG00000186970), KRTAP13-4 (ENSG00000186971), KRTAP26-1 (ENSG00000197683), KRTAP13-1 (ENSG00000198390), KRTAP27-1 (ENSG00000206107), KRTAP25-1 (ENSG00000232263), KRTAP13-3 (ENSG00000240432)

Protein

Protein identifiers

Keratin-associated protein 11-1 — Q8IUC1 (reviewed: Q8IUC1)

Alternative names: High sulfur keratin-associated protein 11.1

All UniProt accessions (1): Q8IUC1

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.

Tissue specificity. Expressed in the upper matrix and in the entire hair cortex.

Similarity. Belongs to the PMG family.

RefSeq proteins (1): NP_787054* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007659	Keratin_matx	Family
IPR007951	KRTAP_PMG	Family

Pfam: PF05287

UniProt features (7 total): repeat 4, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUC1-F1	40.10	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: 62 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, LHX3_01, GGGTGGRR_PAX4_03, FOXD3_01, TCF4_Q5, OCT1_06, OCT1_07, POU3F2_02, chr21q22, NKX3A_01, TGGAAA_NFAT_Q4_01, TAATTA_CHX10_01, RFX1_01, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON

GO Biological Process (0):

GO Molecular Function (2): structural molecule activity (GO:0005198), 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
molecular_function	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

528 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP11-1	KRTAP7-1	Q8IUC3	793
KRTAP11-1	KRTAP8-1	Q8IUC2	771
KRTAP11-1	KRTAP24-1	Q3LI83	736
KRTAP11-1	KRTAP15-1	Q3LI76	725
KRTAP11-1	KRTAP6-2	Q3LI66	716
KRTAP11-1	KRTAP3-1	Q9BYR8	716
KRTAP11-1	KRTAP20-1	Q3LI63	711
KRTAP11-1	KRTAP13-3	Q3SY46	698
KRTAP11-1	KRTAP22-1	Q3MIV0	693
KRTAP11-1	KRTAP20-2	Q3LI61	678
KRTAP11-1	SCYGR1	A0A286YEY9	670
KRTAP11-1	KRTAP6-1	Q3LI64	659
KRTAP11-1	KRTAP6-3	Q3LI67	625
KRTAP11-1	KRTAP1-1	Q07627	598
KRTAP11-1	KRTAP3-3	Q9BYR6	585

IntAct

318 interactions, top by confidence:

A	B	Type	Score
KRTAP12-4	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.600
KRTAP5-9	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.600
TNS2	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
OTX1	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP11-1	AGR3	psi-mi:“MI:0915”(physical association)	0.560
LCE1B	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP11-1	CERK	psi-mi:“MI:0915”(physical association)	0.560
PLA2G10	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP11-1	ASB13	psi-mi:“MI:0915”(physical association)	0.560
RBPMS2	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
LCE2A	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KLHL38	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
VWC2L	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP11-1	FAM222B	psi-mi:“MI:0915”(physical association)	0.560
KRTAP6-1	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-5	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
SLC13A5	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
SNRPC	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
ANKS1A	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-4	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
EFEMP2	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
LIMS4	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
SPRY1	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
TBX6	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
OR7A17	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
NBL1	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP11-1	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-1	KRTAP11-1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (109): KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Affinity Capture-MS), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (Two-hybrid), KRTAP11-1 (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

Diamond homologs: Q3LI83, Q8IUC1, Q9D7N2, A1A580, O08640, Q3LI76, Q3LI77, Q3SY46, Q4W7G7, Q4W7G8, Q4W7G9, Q4W7H0, Q4W7H1, Q52LG2, Q6R645, Q8IUC0, Q9QZU5, A8MUX0, Q6R648, Q9BYR6, Q9BYR7, A2A591, A2A5X5, P02444, P02445, P02446, P02447, Q24JX8, Q24JX9, Q6S343, Q9BYR8, Q9D638, Q9D7P0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 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	27	23.9×	5e-29
Formation of the cornified envelope	7	9.8×	4e-04

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	10	28.9×	8e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

433 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30881276:CACC:C	donor_loss	0.8400
21:30881277:A:T	donor_loss	0.8400
21:30881278:C:G	donor_loss	0.8400
21:30881279:C:G	donor_loss	0.8000
21:30880850:AGGG:A	donor_gain	0.7400
21:30881035:AG:A	donor_gain	0.7100
21:30881035:A:AC	donor_gain	0.6900
21:30881077:T:TA	donor_gain	0.6900
21:30881199:C:CC	acceptor_gain	0.6900
21:30881017:A:AC	donor_gain	0.6700
21:30881018:C:CC	donor_gain	0.6700
21:30881474:T:TA	donor_gain	0.6600
21:30880935:G:C	donor_gain	0.6500
21:30881036:G:C	donor_gain	0.6500
21:30881028:CACA:C	donor_gain	0.6400
21:30880794:T:TA	donor_gain	0.6300
21:30880804:T:TA	donor_gain	0.6300
21:30880850:A:AC	donor_gain	0.6200
21:30881078:C:A	donor_gain	0.6200
21:30881195:TCCA:T	acceptor_gain	0.6200
21:30881196:CCAC:C	acceptor_gain	0.6200
21:30881197:CA:C	acceptor_gain	0.6100
21:30880903:AG:A	donor_gain	0.6000
21:30880904:G:C	donor_gain	0.6000
21:30881031:A:AC	donor_gain	0.6000
21:30881032:C:CC	donor_gain	0.6000
21:30881220:CGG:C	acceptor_gain	0.6000
21:30880963:G:C	donor_gain	0.5900
21:30881238:C:CT	acceptor_gain	0.5900
21:30880975:AT:A	donor_gain	0.5800

AlphaMissense

1029 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30881374:A:G	W51R	0.956
21:30881374:A:T	W51R	0.956
21:30881372:C:A	W51C	0.933
21:30881372:C:G	W51C	0.933
21:30881207:A:C	F106L	0.925
21:30881207:A:T	F106L	0.925
21:30881209:A:G	F106L	0.925
21:30881387:G:C	F46L	0.850
21:30881387:G:T	F46L	0.850
21:30881389:A:G	F46L	0.850
21:30881393:A:C	S44R	0.841
21:30881393:A:T	S44R	0.841
21:30881395:T:G	S44R	0.841
21:30881397:G:T	P43H	0.829
21:30881397:G:C	P43R	0.796
21:30881373:C:A	W51L	0.792
21:30881374:A:C	W51G	0.790
21:30881398:G:T	P43T	0.784
21:30881516:G:C	F3L	0.775
21:30881516:G:T	F3L	0.775
21:30881518:A:G	F3L	0.775
21:30881398:G:A	P43S	0.764
21:30881373:C:G	W51S	0.757
21:30881370:A:T	L52H	0.727
21:30881400:A:G	L42S	0.713
21:30881205:A:T	V107D	0.706
21:30881406:A:G	I40T	0.697
21:30881397:G:A	P43L	0.686
21:30881370:A:G	L52P	0.684
21:30881388:A:G	F46S	0.680

dbSNP variants (sampled 300 via entrez): RS1002883794 (21:30882768 C>G), RS1003180031 (21:30882178 C>T), RS1003910697 (21:30881867 T>C), RS1004909260 (21:30880489 A>G), RS1007002415 (21:30882230 G>A), RS1007339421 (21:30880784 T>C,G), RS1008376814 (21:30881546 G>A,T), RS1009566048 (21:30880405 C>T), RS1011239404 (21:30882385 AT>A), RS1011827553 (21:30881233 T>C), RS1012912383 (21:30883310 A>C), RS1015259298 (21:30881915 A>G), RS1015543608 (21:30881692 T>C), RS1016017453 (21:30880786 G>C), RS1018360701 (21:30882326 A>G)

Disease associations

OMIM: gene MIM:600064 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008163_276	Height	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	decreases methylation	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.