KRTAP13-1

Summary

KRTAP13-1 (keratin associated protein 13-1, HGNC:18924) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 13-1 (Q8IUC0). 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….

Hair keratins and hair keratin-associated proteins (KAPs), such as KRTAP13-1, are the main structural proteins of hair fibers (Rogers et al., 2002 [PubMed 12359730]).

Source: NCBI Gene 140258 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_181599

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18924
Approved symbol	KRTAP13-1
Name	keratin associated protein 13-1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP13.1
Ensembl gene	ENSG00000198390
Ensembl biotype	protein_coding
OMIM	608718
Entrez	140258

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000355459

RefSeq mRNA: 1 — MANE Select: NM_181599 NM_181599

CCDS: CCDS13590

Canonical transcript exons

ENST00000355459 — 1 exons

Exon	Start	End
ENSE00001403567	30396031	30396822

Expression profiles

Bgee: expression breadth broad, 13 present calls, max score 66.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0254 / max 13.9445, expressed in 6 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
188780	0.0254	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelium of nasopharynx	UBERON:0001951	66.92	gold quality
lower lobe of lung	UBERON:0008949	63.61	silver quality
mammary duct	UBERON:0001765	56.34	gold quality
gingival epithelium	UBERON:0001949	54.87	gold quality
oocyte	CL:0000023	54.13	gold quality
nasal cavity epithelium	UBERON:0005384	53.44	gold quality
mucosa of sigmoid colon	UBERON:0004993	52.41	gold quality
amniotic fluid	UBERON:0000173	52.33	gold quality
buccal mucosa cell	CL:0002336	52.25	gold quality
skin of hip	UBERON:0001554	50.59	silver quality
gingiva	UBERON:0001828	50.57	gold quality
quadriceps femoris	UBERON:0001377	49.44	gold quality
vastus lateralis	UBERON:0001379	49.33	gold quality
colonic mucosa	UBERON:0000317	48.86	gold quality
cardia of stomach	UBERON:0001162	47.44	gold quality
body of tongue	UBERON:0011876	47.22	gold quality
subthalamic nucleus	UBERON:0001906	45.92	gold quality
saphenous vein	UBERON:0007318	45.06	gold quality
bone marrow	UBERON:0002371	44.62	gold quality
dorsal plus ventral thalamus	UBERON:0001897	43.42	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
cauda epididymis	UBERON:0004360	42.99	gold quality
heart right ventricle	UBERON:0002080	42.69	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
ventral tegmental area	UBERON:0002691	42.14	gold quality
dorsal root ganglion	UBERON:0000044	41.83	gold quality
superior vestibular nucleus	UBERON:0007227	41.60	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
trigeminal ganglion	UBERON:0001675	41.33	gold quality
inferior vagus X ganglion	UBERON:0005363	41.30	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)

28 targeting KRTAP13-1, 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-511-3P	99.99	68.85	1467
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-520E-5P	99.27	68.90	1513
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-154-5P	98.92	66.65	733
HSA-MIR-4763-5P	98.75	63.89	854
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-450A-2-3P	97.91	67.56	1459
HSA-MIR-8055	97.62	66.09	1023
HSA-MIR-6869-5P	97.17	67.06	634
HSA-MIR-34A-3P	96.80	67.70	805
HSA-MIR-3194-5P	96.80	64.90	1027
HSA-MIR-6866-5P	96.64	68.06	624

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap13-1	ENSMUSG00000056350
rattus_norvegicus	Krtap13-1	ENSRNOG00000042531

Paralogs (8): KRTAP11-1 (ENSG00000182591), KRTAP13-2 (ENSG00000182816), KRTAP15-1 (ENSG00000186970), KRTAP13-4 (ENSG00000186971), KRTAP26-1 (ENSG00000197683), KRTAP27-1 (ENSG00000206107), KRTAP25-1 (ENSG00000232263), KRTAP13-3 (ENSG00000240432)

Protein

Protein identifiers

Keratin-associated protein 13-1 — Q8IUC0 (reviewed: Q8IUC0)

Alternative names: High sulfur keratin-associated protein 13.1

All UniProt accessions (1): Q8IUC0

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. Weak expression seen in the late matrix and entire cortex area of the hair follicle.

Similarity. Belongs to the PMG family.

RefSeq proteins (1): NP_853630* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007659	Keratin_matx	Family
IPR007951	KRTAP_PMG	Family

Pfam: PF05287

UniProt features (7 total): repeat 5, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IUC0-F1	46.17	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: 30 (showing top): PIT1_Q6, chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, CERIBELLI_PROMOTERS_INACTIVE_AND_BOUND_BY_NFY, NFKB_Q6_01, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ESC_J1_UP_EARLY.V1_UP, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR582_5P, MIR12135, MIR605_3P

GO Biological Process (0):

GO Molecular Function (1): structural molecule activity (GO:0005198)

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

Protein interactions and networks

STRING

362 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP13-1	KRTAP20-2	Q3LI61	772
KRTAP13-1	KRTAP24-1	Q3LI83	761
KRTAP13-1	KRTAP7-1	Q8IUC3	754
KRTAP13-1	KRTAP20-1	Q3LI63	748
KRTAP13-1	KRTAP8-1	Q8IUC2	746
KRTAP13-1	KRTAP6-2	Q3LI66	700
KRTAP13-1	SCYGR1	A0A286YEY9	696
KRTAP13-1	KRTAP3-1	Q9BYR8	685
KRTAP13-1	KRTAP26-1	Q6PEX3	663
KRTAP13-1	KRTAP22-1	Q3MIV0	662
KRTAP13-1	KRTAP27-1	Q3LI81	607
KRTAP13-1	KRTAP6-1	Q3LI64	605
KRTAP13-1	KRTAP9-2	Q9BYQ4	587
KRTAP13-1	KRTAP6-3	Q3LI67	583
KRTAP13-1	KRTAP19-2	Q3LHN2	578

IntAct

4 interactions, top by confidence:

A	B	Type	Score
	KRTAP13-1	psi-mi:“MI:0407”(direct interaction)	0.440
KRTAP13-1	E4	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (46): KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), C6orf165 (Two-hybrid), TBC1D10C (Two-hybrid), KRTAP10-3 (Two-hybrid), RBPMS (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid), KRTAP13-1 (Two-hybrid)

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, P02438, P02439, P02440, P02441, P02442, P02443, P08131, P0C5Y4, P0C7H8, P26371, P59990, P59991, P60014, P60328, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q701N4, Q8IUC0, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

392 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30396135:G:GA	donor_gain	0.9200
21:30396134:T:TA	donor_gain	0.9100
21:30396109:G:GT	donor_gain	0.8800
21:30396132:G:GA	donor_gain	0.8600
21:30396137:C:G	donor_gain	0.8500
21:30396110:A:T	donor_gain	0.8400
21:30396131:T:TA	donor_gain	0.7800
21:30396447:GGCT:G	donor_gain	0.7800
21:30396448:GCTG:G	donor_gain	0.7800
21:30396218:C:T	donor_gain	0.7700
21:30396451:G:GG	donor_gain	0.7400
21:30396448:GCT:G	donor_gain	0.7300
21:30396223:GCC:G	donor_gain	0.7100
21:30396446:GGGCT:G	donor_gain	0.7100
21:30396447:GGCTG:G	donor_gain	0.7100
21:30396444:G:GG	donor_gain	0.7000
21:30396136:G:GG	donor_gain	0.6800
21:30396299:G:GT	donor_gain	0.6600
21:30396443:A:AG	donor_gain	0.6600
21:30396246:AG:A	acceptor_gain	0.6500
21:30396247:GG:G	acceptor_gain	0.6500
21:30396404:C:G	donor_gain	0.6500
21:30396131:T:A	donor_gain	0.6400
21:30396165:G:GA	donor_gain	0.6300
21:30396242:CTATA:C	acceptor_loss	0.6300
21:30396243:TATAG:T	acceptor_loss	0.6300
21:30396245:TA:T	acceptor_loss	0.6300
21:30396246:A:C	acceptor_loss	0.6300
21:30396247:G:GC	acceptor_loss	0.6300
21:30396385:TAGG:T	acceptor_gain	0.6200

AlphaMissense

1090 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30396495:T:C	F137L	0.813
21:30396497:C:A	F137L	0.813
21:30396497:C:G	F137L	0.813
21:30396390:T:C	F102L	0.799
21:30396392:T:A	F102L	0.799
21:30396392:T:G	F102L	0.799
21:30396594:T:C	F170L	0.798
21:30396596:C:A	F170L	0.798
21:30396596:C:G	F170L	0.798
21:30396522:T:C	F146L	0.792
21:30396524:C:A	F146L	0.792
21:30396524:C:G	F146L	0.792
21:30396114:T:C	F10L	0.693
21:30396116:C:A	F10L	0.693
21:30396116:C:G	F10L	0.693
21:30396552:A:C	S156R	0.618
21:30396554:C:A	S156R	0.618
21:30396554:C:G	S156R	0.618

dbSNP variants (sampled 300 via entrez): RS1001205997 (21:30395891 G>A), RS1001750679 (21:30397312 G>A,C), RS1001801557 (21:30396392 T>C), RS1002813246 (21:30397244 A>C,G), RS1004044 (21:30394669 C>A,G,T), RS1005412146 (21:30394600 C>T), RS1005654154 (21:30395354 G>C,T), RS1006005668 (21:30395865 G>C,T), RS1006365959 (21:30395584 C>A,T), RS1008877528 (21:30395149 C>T), RS1009469638 (21:30396426 T>G), RS1009779483 (21:30397283 A>G), RS1009935123 (21:30396636 T>C), RS1010682 (21:30396491 T>A,C), RS1012114315 (21:30395631 T>C)

Disease associations

OMIM: gene MIM:608718 | 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
GCST007665_3	Treatment resistant depression	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009854	treatment resistant depression

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
Benzo(a)pyrene	affects methylation, decreases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Endosulfan	decreases expression	1

Clinical trials (associated diseases)

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