KRTAP1-1

Summary

KRTAP1-1 (keratin associated protein 1-1, HGNC:16772) is a protein-coding gene on chromosome 17q21.2, encoding Keratin-associated protein 1-1 (Q07627). 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 high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21.

Source: NCBI Gene 81851 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_030967

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16772
Approved symbol	KRTAP1-1
Name	keratin associated protein 1-1
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KAP1.1B, HB2A, KAP1.1, KAP1.1A
Ensembl gene	ENSG00000188581
Ensembl biotype	protein_coding
OMIM	608819
Entrez	81851

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000306271

RefSeq mRNA: 1 — MANE Select: NM_030967 NM_030967

CCDS: CCDS42324

Canonical transcript exons

ENST00000306271 — 1 exons

Exon	Start	End
ENSE00001176195	41040541	41041450

Expression profiles

Bgee: expression breadth broad, 49 present calls, max score 88.70.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2977 / max 31.7202, expressed in 83 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165867	0.2977	83

Top tissues by expression

108 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	88.70	gold quality
skin of abdomen	UBERON:0001416	46.31	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	44.31	silver quality
granulocyte	CL:0000094	43.50	silver quality
zone of skin	UBERON:0000014	43.07	gold quality
skin of leg	UBERON:0001511	41.08	gold quality
lower esophagus mucosa	UBERON:0035834	39.33	gold quality
right lung	UBERON:0002167	38.71	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
pancreas	UBERON:0001264	36.32	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
body of pancreas	UBERON:0001150	36.12	gold quality
gall bladder	UBERON:0002110	35.73	silver quality
islet of Langerhans	UBERON:0000006	35.50	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
cortex of kidney	UBERON:0001225	35.46	gold quality
duodenum	UBERON:0002114	33.53	silver 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
olfactory segment of nasal mucosa	UBERON:0005386	31.62	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
saliva-secreting gland	UBERON:0001044	30.44	gold quality
tonsil	UBERON:0002372	30.42	gold quality
minor salivary gland	UBERON:0001830	30.19	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.76	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting KRTAP1-1, 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-3646	100.00	73.56	5283
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4320	99.75	65.80	793
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4709-3P	98.88	68.04	1594
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-11399	98.71	65.69	869
HSA-MIR-3689A-5P	98.35	70.12	1049
HSA-MIR-3689B-5P	98.35	70.12	1049
HSA-MIR-3689E	98.35	70.12	1049
HSA-MIR-3689F	98.35	70.08	1052
HSA-MIR-1267	98.24	69.05	837
HSA-MIR-5571-3P	97.80	66.07	640
HSA-MIR-125A-3P	97.04	66.92	902
HSA-MIR-4474-3P	96.97	65.87	870
HSA-MIR-1258	96.08	67.74	700
HSA-MIR-5588-3P	94.96	65.59	500

Literature-anchored findings (GeneRIF, showing 3)

• polymorphisms in Japanese and Caucasian individuals (PMID:12228244)
• Krtap11-1 may play an important role on keratin-bundle assembly in the hair cortex. (PMID:24439038)
• Whole-genome sequencing reveals KRTAP1-1 as a novel genetic variant associated with antidepressant treatment outcomes. (PMID:33633223)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap1-5	ENSMUSG00000047253
rattus_norvegicus	Krtap1-5	ENSRNOG00000084854

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-8 (ENSG00000187766), KRTAP10-6 (ENSG00000188155), 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), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 1-1 — Q07627 (reviewed: Q07627)

Alternative names: High sulfur keratin-associated protein 1.1, Keratin-associated protein 1.1, Keratin-associated protein 1.6, Keratin-associated protein 1.7

All UniProt accessions (1): Q07627

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. Expressed in the middle/upper portions of the hair cortex, in the region termed the keratogenous zone.

Similarity. Belongs to the KRTAP type 1 family.

RefSeq proteins (1): NP_112229* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF01500

UniProt features (3 total): sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q07627-F1	39.28	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: 21 (showing top): GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR3145_3P, MIR4709_3P, MIR125A_3P, NCOA4_TARGET_GENES, GSE17974_0H_VS_12H_IN_VITRO_ACT_CD4_TCELL_UP, TARTE_PLASMA_CELL_VS_PLASMABLAST_UP, GSE3982_EOSINOPHIL_VS_DC_UP, GSE3982_EOSINOPHIL_VS_NEUTROPHIL_UP, GSE3982_MAST_CELL_VS_BCELL_UP

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

380 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP1-1	KRTAP6-1	Q3LI64	626
KRTAP1-1	KRTAP24-1	Q3LI83	605
KRTAP1-1	KRTAP11-1	Q8IUC1	598
KRTAP1-1	KRTAP6-3	Q3LI67	594
KRTAP1-1	A8MUN0	A8MUN0	582
KRTAP1-1	KRTAP6-2	Q3LI66	581
KRTAP1-1	KRTAP3-2	Q9BYR7	557
KRTAP1-1	KRTAP13-3	Q3SY46	549
KRTAP1-1	KRTAP13-2	Q52LG2	537
KRTAP1-1	KRTAP8-1	Q8IUC2	518
KRTAP1-1	KRTAP7-1	Q8IUC3	518
KRTAP1-1	SCYGR1	A0A286YEY9	507
KRTAP1-1	KRTAP2-3	P0C7H8	507
KRTAP1-1	KRTAP22-1	Q3MIV0	506
KRTAP1-1	KRTAP3-1	Q9BYR8	484

IntAct

566 interactions, top by confidence:

A	B	Type	Score
R3HDM2	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
HPCAL1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
MRGBP	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP9-8	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
ZNF408	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
PCSK5	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
RPUSD3	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
TNP2	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
HOXC8	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
NUBP2	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
ZNF491	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
HOXB5	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
IGSF8	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
SLIT1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP1-1	MYOM1	psi-mi:“MI:0915”(physical association)	0.000
GRN	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
LRFN4	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
IL16	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
FEZF1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
EFNA3	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
SNX18	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
FOXD4L3	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
CATSPER1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
VSTM4	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
LCE1F	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
SPACA9	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
CATIP	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
ZBTB48	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000
MAGOHB	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (218): KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (Two-hybrid), KRTAP1-1 (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: P02438, P02439, P02440, P08131, P0C5Y4, Q07627, Q3V2C1, Q8IUG1, Q9BYS1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 116 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	17	12.5×	5e-12
Formation of the cornified envelope	8	9.2×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	7	17.1×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	5
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

241 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41041274:T:TA	donor_gain	0.7600
17:41041239:G:C	donor_gain	0.7000
17:41041304:T:TA	donor_gain	0.6700
17:41041102:C:CG	donor_gain	0.6400
17:41040723:A:AC	donor_gain	0.6300
17:41040724:C:CC	donor_gain	0.6300
17:41040726:T:TA	donor_gain	0.6300
17:41040647:CT:C	donor_gain	0.6000
17:41040705:T:TA	donor_gain	0.6000
17:41041202:AAGT:A	donor_gain	0.6000
17:41041205:T:TA	donor_gain	0.6000
17:41041279:CAG:C	donor_gain	0.6000
17:41041211:CGGT:C	donor_gain	0.5900
17:41041207:C:CT	donor_gain	0.5800
17:41041208:C:CT	donor_gain	0.5800
17:41041309:CAG:C	donor_gain	0.5800
17:41041064:CAGCT:C	donor_gain	0.5700
17:41041278:A:AC	donor_gain	0.5700
17:41041279:C:CC	donor_gain	0.5700
17:41041101:A:AC	donor_gain	0.5600
17:41041103:C:CT	donor_gain	0.5600
17:41040727:C:A	donor_gain	0.5500
17:41041100:C:CT	donor_gain	0.5500
17:41041203:AGT:A	donor_gain	0.5500
17:41040723:ACTT:A	donor_gain	0.5400
17:41040724:CTTC:C	donor_gain	0.5400
17:41041064:CAG:C	donor_gain	0.5400
17:41040646:A:AC	donor_gain	0.5300
17:41040647:C:CC	donor_gain	0.5300
17:41041099:C:CT	donor_gain	0.5300

AlphaMissense

1171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41041044:C:A	W118C	0.958
17:41041044:C:G	W118C	0.958
17:41041046:A:G	W118R	0.945
17:41041046:A:T	W118R	0.945
17:41040971:A:G	C143R	0.917
17:41040938:A:G	C154R	0.912
17:41040921:A:C	C159W	0.907
17:41040936:G:C	C154W	0.900
17:41040969:G:C	C143W	0.899
17:41040922:C:G	C159S	0.898
17:41040923:A:T	C159S	0.898
17:41040923:A:G	C159R	0.896
17:41041365:A:C	F11L	0.893
17:41041365:A:T	F11L	0.893
17:41041367:A:G	F11L	0.893
17:41040937:C:G	C154S	0.892
17:41040938:A:T	C154S	0.892
17:41040922:C:T	C159Y	0.888
17:41041374:G:C	F8L	0.888
17:41041374:G:T	F8L	0.888
17:41041376:A:G	F8L	0.888
17:41040968:A:G	C144R	0.878
17:41040906:G:C	C164W	0.872
17:41040926:A:C	Y158D	0.872
17:41040908:A:G	C164R	0.866
17:41040966:G:C	C144W	0.861
17:41040937:C:T	C154Y	0.859
17:41041031:A:G	C123R	0.855
17:41040967:C:G	C144S	0.853
17:41040968:A:T	C144S	0.853

dbSNP variants (sampled 300 via entrez): RS1001055033 (17:41041407 A>G), RS1002115585 (17:41040617 A>G), RS1004523046 (17:41041737 C>T), RS1005070984 (17:41043446 A>C,G), RS1005857893 (17:41040781 C>T), RS1006055302 (17:41040981 T>C), RS1006604365 (17:41043189 T>C), RS1007532569 (17:41041792 C>A), RS1007730167 (17:41042012 A>C), RS1008064110 (17:41043383 T>C), RS1010665846 (17:41040648 T>C), RS1012299193 (17:41040098 G>A), RS1012342703 (17:41042164 A>C,T), RS1012376062 (17:41040375 T>C), RS1012437227 (17:41042481 T>C)

Disease associations

OMIM: gene MIM:608819 | 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

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

Chemical	Actions (top 5)	PubMed papers
beta-lapachone	decreases expression	1
diallyl trisulfide	increases expression	1
incobotulinumtoxinA	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Cadmium	decreases expression, increases abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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