KRTAP22-1

Summary

KRTAP22-1 (keratin associated protein 22-1, HGNC:18947) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 22-1 (Q3MIV0). 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 337979 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_181620

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18947
Approved symbol	KRTAP22-1
Name	keratin associated protein 22-1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP22.1
Ensembl gene	ENSG00000186924
Ensembl biotype	protein_coding
Entrez	337979

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334680

RefSeq mRNA: 1 — MANE Select: NM_181620 NM_181620

CCDS: CCDS13601

Canonical transcript exons

ENST00000334680 — 1 exons

Exon	Start	End
ENSE00001337805	30601087	30601382

Expression profiles

Bgee: expression breadth tissue_specific, 9 present calls, max score 94.37.

Top tissues by expression

110 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	94.37	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
ganglionic eminence	UBERON:0004023	35.49	gold 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
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.19	silver quality
gall bladder	UBERON:0002110	25.98	gold quality
leukocyte	CL:0000738	25.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
monocyte	CL:0000576	25.78	gold quality
right lobe of liver	UBERON:0001114	25.02	silver quality
muscle of leg	UBERON:0001383	24.74	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
kidney	UBERON:0002113	24.01	silver quality
frontal cortex	UBERON:0001870	23.95	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 22-1 — Q3MIV0 (reviewed: Q3MIV0)

All UniProt accessions (1): Q3MIV0

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_853651* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021743	KRTAP_type8/19/20/21/22	Family
IPR052878	KRTAP_matrix	Family

Pfam: PF11759

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3MIV0-F1	41.02	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: 8 (showing top): AACTTT_UNKNOWN, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, GSE20727_DNFB_ALLERGEN_VS_ROS_INH_AND_DNFB_ALLERGEN_TREATED_DC_UP

GO Biological Process (0):

GO Molecular Function (0):

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

Protein interactions and networks

STRING

112 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP22-1	KRTAP20-1	Q3LI63	881
KRTAP22-1	KRTAP6-3	Q3LI67	881
KRTAP22-1	KRTAP20-2	Q3LI61	877
KRTAP22-1	KRTAP6-1	Q3LI64	877
KRTAP22-1	KRTAP15-1	Q3LI76	849
KRTAP22-1	KRTAP24-1	Q3LI83	846
KRTAP22-1	KRTAP26-1	Q6PEX3	840
KRTAP22-1	KRTAP6-2	Q3LI66	795
KRTAP22-1	KRTAP13-3	Q3SY46	795
KRTAP22-1	SCYGR1	A0A286YEY9	794
KRTAP22-1	KRTAP8-1	Q8IUC2	765
KRTAP22-1	KRTAP7-1	Q8IUC3	708
KRTAP22-1	KRTAP11-1	Q8IUC1	693
KRTAP22-1	KRTAP21-1	Q3LI58	666
KRTAP22-1	KRTAP13-1	Q8IUC0	662

IntAct

0 interactions, top by confidence:

BioGRID (14): KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), KRTAP22-1 (Two-hybrid), ARID5A (Two-hybrid)

ESM2 similar proteins: H2A0M6, O08632, O08633, O08640, P02448, P04459, P05685, P08826, P25692, P82170, P83358, Q02957, Q02958, Q28580, Q3LHN2, Q3LI54, Q3LI58, Q3LI59, Q3LI60, Q3LI61, Q3LI63, Q3LI64, Q3LI66, Q3LI67, Q3LI68, Q3LI70, Q3LI72, Q3LI73, Q3LI77, Q3MIV0, Q3SYF9, Q4W7G7, Q4W7G8, Q4W7G9, Q4W7H0, Q4W7H1, Q6F4C6, Q6R645, Q7Z4W3, Q8C1I6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

97 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30601183:C:G	donor_gain	0.8700
21:30601167:G:GT	donor_gain	0.8200
21:30601154:GGC:G	donor_gain	0.8000
21:30601234:T:TG	donor_gain	0.7700
21:30601148:G:GA	donor_gain	0.7500
21:30601204:C:G	donor_gain	0.7500
21:30601147:T:TA	donor_gain	0.7400
21:30601231:GTGT:G	donor_gain	0.7400
21:30601232:TGTT:T	donor_gain	0.7400
21:30601203:GC:G	donor_gain	0.7000
21:30601233:G:GA	donor_gain	0.7000
21:30601193:G:GA	donor_gain	0.6900
21:30601098:C:G	donor_gain	0.6600
21:30601170:GCC:G	donor_gain	0.6600
21:30601166:G:GT	donor_gain	0.6100
21:30601229:T:A	donor_gain	0.6100
21:30601239:A:T	donor_gain	0.6100
21:30601192:T:TA	donor_gain	0.6000
21:30601121:A:G	donor_gain	0.5800
21:30601155:GC:G	donor_gain	0.5800
21:30601209:GC:G	donor_gain	0.5800
21:30601210:C:G	donor_gain	0.5800
21:30601098:C:CG	donor_gain	0.5600
21:30601234:T:G	donor_gain	0.5600
21:30601195:T:TA	donor_gain	0.5500
21:30601345:GA:G	acceptor_gain	0.5500
21:30601126:C:G	donor_gain	0.5400
21:30601230:GGTGT:G	donor_gain	0.5400
21:30601219:C:G	donor_gain	0.5200
21:30601337:T:A	acceptor_gain	0.5200

AlphaMissense

311 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30601262:T:C	F48L	0.796
21:30601264:C:A	F48L	0.796
21:30601264:C:G	F48L	0.796
21:30601250:T:C	F44L	0.770
21:30601252:T:A	F44L	0.770
21:30601252:T:G	F44L	0.770
21:30601127:T:C	F3L	0.750
21:30601129:T:A	F3L	0.750
21:30601129:T:G	F3L	0.750
21:30601247:T:A	W43R	0.664
21:30601247:T:C	W43R	0.664
21:30601249:G:C	W43C	0.660
21:30601249:G:T	W43C	0.660
21:30601234:T:G	C38W	0.623

dbSNP variants (sampled 300 via entrez): RS1000270364 (21:30599228 A>C,G), RS1001937248 (21:30600540 C>T), RS1002154218 (21:30599353 T>C), RS1005735454 (21:30600017 A>G), RS1006181093 (21:30599722 A>G), RS1006775426 (21:30600893 A>G), RS1006916663 (21:30599979 C>T), RS1008849905 (21:30600846 C>G), RS1009690309 (21:30599429 A>T), RS1012457091 (21:30599145 A>C), RS1013366793 (21:30600125 G>A), RS1013721326 (21:30600520 G>A), RS1014190000 (21:30600296 A>C,T), RS1017198077 (21:30599735 A>C), RS1017541189 (21:30600018 A>T)

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
bisphenol A	affects cotreatment, decreases methylation	1
Fulvestrant	affects cotreatment, decreases methylation	1
Valproic Acid	decreases methylation	1
Cyclosporine	increases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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