KRTAP23-1

gene

On this page

Also known as KAP23.1

Summary

KRTAP23-1 (keratin associated protein 23-1, HGNC:18928) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 23-1 (A1A580). 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 337963 — RefSeq curated summary.

At a glance

Clinical variants (ClinVar): 9 total
MANE Select transcript: NM_181624

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18928
Approved symbol	KRTAP23-1
Name	keratin associated protein 23-1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP23.1
Ensembl gene	ENSG00000186980
Ensembl biotype	protein_coding
Entrez	337963

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334160

RefSeq mRNA: 1 — MANE Select: NM_181624 NM_181624

CCDS: CCDS33533

Canonical transcript exons

ENST00000334160 — 1 exons

Exon	Start	End
ENSE00001401881	30348399	30348606

Expression profiles

Bgee: expression breadth broad, 27 present calls, max score 37.20.

Top tissues by expression

121 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	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
monocyte	CL:0000576	29.45	gold quality
leukocyte	CL:0000738	29.28	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
calcaneal tendon	UBERON:0003701	27.17	silver 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
gall bladder	UBERON:0002110	25.98	gold quality
blood	UBERON:0000178	25.94	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality
fundus of stomach	UBERON:0001160	25.32	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
frontal cortex	UBERON:0001870	24.15	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 23-1 — A1A580 (reviewed: A1A580)

All UniProt accessions (1): A1A580

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_853655* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007951	KRTAP_PMG	Family

Pfam: PF05287

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1A580-F1	57.51	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: 7 (showing top): P300_01, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER

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

28 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt
KRTAP23-1	BHLHE40	O14503
KRTAP23-1	SPMIP9	Q96LM6
KRTAP23-1	TNS2	Q63HR2
KRTAP23-1	KRTAP22-1	Q3MIV0
KRTAP23-1	KRTAP13-4	Q3LI77
KRTAP23-1	KRTAP15-1	Q3LI76
KRTAP23-1	LCE3B	Q5TA77
KRTAP23-1	KRTAP21-3	Q3LHN1
KRTAP23-1	KRTAP20-3	Q3LI60
KRTAP23-1	KRTAP13-3	Q3SY46
KRTAP23-1	KRTAP13-2	Q52LG2
KRTAP23-1	KRTAP13-1	Q8IUC0
KRTAP23-1	OR5D16	Q8NGK9
KRTAP23-1	CAMK2A	Q9UQM7

IntAct

23 interactions, top by confidence:

A	B	Type	Score
KRTAP23-1	BHLHE40	psi-mi:“MI:0915”(physical association)	0.560
KRTAP23-1	RBPMS	psi-mi:“MI:0915”(physical association)	0.560
BHLHE40	KRTAP23-1	psi-mi:“MI:0915”(physical association)	0.560
RBPMS	KRTAP23-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP23-1	CAMK2A	psi-mi:“MI:0915”(physical association)	0.560
	KRTAP23-1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP23-1	ACTMAP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP23-1	SPMIP9	psi-mi:“MI:0915”(physical association)	0.560
KRTAP23-1	HOXA1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP23-1	TNS2	psi-mi:“MI:0915”(physical association)	0.370
KRTAP23-1	CAMK2A	psi-mi:“MI:0915”(physical association)	0.000
KRTAP23-1		psi-mi:“MI:0915”(physical association)	0.000
KRTAP23-1	ACTMAP	psi-mi:“MI:0915”(physical association)	0.000
SPMIP9	KRTAP23-1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP23-1	HOXA1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP23-1	SPMIP9	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (8): KRTAP23-1 (Two-hybrid), KRTAP23-1 (Two-hybrid), KRTAP23-1 (Two-hybrid), KRTAP23-1 (Two-hybrid), KRTAP23-1 (Two-hybrid), KRTAP23-1 (Two-hybrid), KRTAP23-1 (Two-hybrid), C19orf54 (Two-hybrid)

ESM2 similar proteins: A0A183, A1A580, G2TRR9, O09133, O54835, P02446, P02447, P02449, P04869, P07521, P08335, P0DM49, P0DM52, P13411, P13524, P13525, P20308, P23252, P30927, P30928, P33483, P60167, Q03556, Q09360, Q197E2, Q24JX8, Q3LHN1, Q54GV2, Q54LF2, Q54SP7, Q54UL3, Q55AF0, Q55BU0, Q55FC6, Q55FC7, Q5UP52, Q5UQ01, Q5UQP5, Q65675, Q68FV4

Diamond homologs: A1A580, Q3LI77, Q3SY46, Q4W7H0, Q4W7H1, Q52LG2, Q8IUC0, O08640, Q3LI76, Q4W7G7, Q4W7G8, Q4W7G9, Q6R645, Q9QZU5, Q8IUC1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	6
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

59 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30348527:C:CT	donor_gain	0.7500
21:30348537:AG:A	donor_gain	0.7400
21:30348555:AGC:A	donor_gain	0.7400
21:30348555:AGCC:A	donor_gain	0.7200
21:30348524:C:CT	donor_gain	0.7000
21:30348558:C:CA	donor_gain	0.7000
21:30348461:G:C	donor_gain	0.6900
21:30348562:A:AC	donor_gain	0.6500
21:30348563:C:CC	donor_gain	0.6500
21:30348510:TGGGG:T	donor_gain	0.6200
21:30348525:C:CT	donor_gain	0.6100
21:30348564:A:C	donor_gain	0.6000
21:30348497:TAG:T	donor_gain	0.5800
21:30348498:AGA:A	donor_gain	0.5800
21:30348499:G:GT	donor_gain	0.5700
21:30348583:T:TA	donor_gain	0.5500
21:30348523:G:C	donor_gain	0.5200
21:30348439:C:CA	donor_gain	0.4900
21:30348430:T:A	donor_gain	0.4800
21:30348528:C:CT	donor_gain	0.4800
21:30348435:AAAGC:A	donor_gain	0.4600
21:30348495:TGTA:T	donor_gain	0.4600
21:30348496:GTAG:G	donor_gain	0.4600
21:30348440:CCT:C	acceptor_gain	0.4300
21:30348438:GCCCT:G	acceptor_gain	0.4100
21:30348546:A:AC	donor_gain	0.4100
21:30348401:T:C	donor_gain	0.4000
21:30348437:AGCCC:A	acceptor_gain	0.3900
21:30348442:T:C	acceptor_gain	0.3700
21:30348503:A:T	donor_gain	0.3700

AlphaMissense

403 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30348577:G:C	F10L	0.799
21:30348577:G:T	F10L	0.799
21:30348579:A:G	F10L	0.799

dbSNP variants (sampled 300 via entrez): RS1000105099 (21:30349996 T>C), RS1000937861 (21:30347902 G>T), RS1001156442 (21:30348868 CTCTCTCTGTCTCTT>C), RS1001497003 (21:30350507 T>C), RS1001827550 (21:30348952 T>G), RS1001943706 (21:30349193 G>A,T), RS1004394878 (21:30348646 A>G), RS1004903966 (21:30348857 T>G), RS1005481112 (21:30348349 C>G,T), RS1005507991 (21:30350427 A>T), RS1005806413 (21:30350241 G>T), RS1007611521 (21:30349704 G>A,T), RS1008236828 (21:30348239 G>A), RS1009205810 (21:30349247 A>T), RS1009545438 (21:30350304 CCTT>C)

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
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
bisphenol S	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Toluene	decreases methylation, increases expression	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.