KRTAP13-4

Summary

KRTAP13-4 (keratin associated protein 13-4, HGNC:18926) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 13-4 (Q3LI77). 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 284827 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 21 total
• MANE Select transcript: NM_181600

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18926
Approved symbol	KRTAP13-4
Name	keratin associated protein 13-4
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	KAP13.4
Ensembl gene	ENSG00000186971
Ensembl biotype	protein_coding
Entrez	284827

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000334068

RefSeq mRNA: 1 — MANE Select: NM_181600 NM_181600

CCDS: CCDS13592

Canonical transcript exons

ENST00000334068 — 1 exons

Exon	Start	End
ENSE00003978237	30430220	30431026

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 47.25.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	47.25	silver quality
subcutaneous adipose tissue	UBERON:0002190	40.19	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
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
adipose tissue	UBERON:0001013	35.20	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	34.70	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
muscle tissue	UBERON:0002385	32.18	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
lymph node	UBERON:0000029	29.40	gold quality
omental fat pad	UBERON:0010414	29.20	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
right coronary artery	UBERON:0001625	28.18	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
thoracic mammary gland	UBERON:0005200	27.21	gold quality
tonsil	UBERON:0002372	27.05	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
leukocyte	CL:0000738	26.33	gold quality
monocyte	CL:0000576	26.20	gold quality
blood	UBERON:0000178	26.11	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.64

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The KRTAP13-4 promoter is activated by Trichostatin A (TSA) treatment and by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)

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), KRTAP26-1 (ENSG00000197683), KRTAP13-1 (ENSG00000198390), KRTAP27-1 (ENSG00000206107), KRTAP25-1 (ENSG00000232263), KRTAP13-3 (ENSG00000240432)

Protein

Protein identifiers

Keratin-associated protein 13-4 — Q3LI77 (reviewed: Q3LI77)

All UniProt accessions (1): Q3LI77

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.

Similarity. Belongs to the PMG family.

RefSeq proteins (1): NP_853631* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007951	KRTAP_PMG	Family

Pfam: PF05287

UniProt features (8 total): repeat 4, sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3LI77-F1	43.71	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: 9 (showing top): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, ZNF436_TARGET_GENES, HAY_BONE_MARROW_STROMAL, TATAAA_TATA_01

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

100 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP13-4	MINAR1	Q9UPX6	515
KRTAP13-4	FAM177A1	Q8N128	506
KRTAP13-4	EFHC2	Q5JST6	480
KRTAP13-4	NOM1	Q5C9Z4	462
KRTAP13-4	ELFN2	Q5R3F8	452
KRTAP13-4	QTMAN	Q4AE62	447
KRTAP13-4	SEL1L3	Q68CR1	419
KRTAP13-4	TMEM41B	Q5BJD5	370
KRTAP13-4	CDH7	Q9ULB5	354
KRTAP13-4	HMGN5	P82970	324
KRTAP13-4	CFHR5	Q9BXR6	315
KRTAP13-4	CSRP1	P21291	315
KRTAP13-4	SLC25A12	O75746	305
KRTAP13-4	CDH20	Q9HBT6	303
KRTAP13-4	GRIK3	Q13003	286
KRTAP13-4	FKBP8	Q14318	286

IntAct

25 interactions, top by confidence:

A	B	Type	Score
BAG4	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.560
GEMIN4	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP13-4	RHOXF2	psi-mi:“MI:0915”(physical association)	0.560
HOXA1	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.560
FCHO1	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP13-4	CDR2L	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.560
KRTAP13-4	GEMIN4	psi-mi:“MI:0915”(physical association)	0.000
KRTAP13-4	CYSRT1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP13-4	NOTCH2NLC	psi-mi:“MI:0915”(physical association)	0.000
RHOXF2	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.000
KRTAP13-4	HOXA1	psi-mi:“MI:0915”(physical association)	0.000
KRTAP13-4	FCHO1	psi-mi:“MI:0915”(physical association)	0.000
CDR2L	KRTAP13-4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (9): KRTAP13-4 (Two-hybrid), KRTAP13-4 (Two-hybrid), KRTAP13-4 (Two-hybrid), KRTAP13-4 (Two-hybrid), KRTAP13-4 (Two-hybrid), KRTAP13-4 (Two-hybrid), CYSRT1 (Two-hybrid), NOTCH2NL (Two-hybrid), NBPF19 (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

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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

292 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30430335:C:CG	donor_gain	0.8800
21:30430343:GCTCC:G	donor_gain	0.8400
21:30430420:A:C	acceptor_loss	0.8300
21:30430420:A:AG	acceptor_gain	0.8100
21:30430421:G:GG	acceptor_gain	0.8100
21:30430402:C:G	donor_gain	0.8000
21:30430423:G:T	donor_gain	0.8000
21:30430418:A:AG	acceptor_gain	0.7900
21:30430420:AG:A	acceptor_gain	0.7900
21:30430421:GG:G	acceptor_gain	0.7900
21:30430421:GGGA:G	acceptor_gain	0.7600
21:30430322:GGGGC:G	donor_gain	0.7200
21:30430418:ACAG:A	acceptor_gain	0.7200
21:30430443:G:GT	donor_gain	0.7100
21:30430422:G:GT	donor_gain	0.7000
21:30430532:GCTT:G	donor_gain	0.6900
21:30430755:C:G	donor_gain	0.6900
21:30430323:GGGC:G	donor_gain	0.6600
21:30430568:GATC:G	donor_gain	0.6600
21:30430253:C:G	donor_gain	0.6500
21:30430420:AGG:A	acceptor_gain	0.6500
21:30430421:GGG:G	acceptor_gain	0.6500
21:30430773:T:TG	donor_gain	0.6200
21:30430421:GGGAC:G	acceptor_gain	0.6100
21:30430507:C:A	donor_gain	0.6100
21:30430648:C:G	donor_gain	0.6100
21:30430563:C:G	donor_gain	0.6000
21:30430636:G:GA	donor_gain	0.6000
21:30430483:A:T	donor_gain	0.5900
21:30430504:T:G	donor_gain	0.5900

AlphaMissense

1021 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30430639:T:C	F122L	0.786
21:30430641:T:A	F122L	0.786
21:30430641:T:G	F122L	0.786
21:30430666:T:C	F131L	0.762
21:30430668:C:A	F131L	0.762
21:30430668:C:G	F131L	0.762
21:30430303:T:C	F10L	0.734
21:30430305:C:A	F10L	0.734
21:30430305:C:G	F10L	0.734
21:30430534:T:C	F87L	0.709
21:30430536:T:A	F87L	0.709
21:30430536:T:G	F87L	0.709
21:30430738:T:C	F155L	0.707
21:30430740:C:A	F155L	0.707
21:30430740:C:G	F155L	0.707
21:30430609:T:C	F112L	0.653
21:30430611:C:A	F112L	0.653
21:30430611:C:G	F112L	0.653

dbSNP variants (sampled 300 via entrez): RS1001221458 (21:30430496 G>A,T), RS1001356051 (21:30430135 G>A), RS1001954434 (21:30428605 G>A), RS1002318041 (21:30429119 G>A), RS1002629638 (21:30429409 A>G), RS1004051679 (21:30431418 G>T), RS1005441161 (21:30429194 T>A), RS1007412439 (21:30428371 A>G), RS1007681524 (21:30428723 C>T), RS1008084398 (21:30430766 G>C), RS1008194961 (21:30430391 G>A,C,T), RS1008734771 (21:30431493 T>A,C), RS1009294353 (21:30428860 C>T), RS1009622248 (21:30429444 A>T), RS1011665634 (21:30430325 G>A)

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
CGP 52608	affects binding, increases reaction	1
Resveratrol	decreases expression, affects cotreatment	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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