KRTAP27-1

Summary

KRTAP27-1 (keratin associated protein 27-1, HGNC:33864) is a protein-coding gene on chromosome 21q22.11, encoding Keratin-associated protein 27-1 (Q3LI81). 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 enable structural molecule activity. Predicted to be located in cytosol.

Source: NCBI Gene 643812 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 30 total
• MANE Select transcript: NM_001077711

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33864
Approved symbol	KRTAP27-1
Name	keratin associated protein 27-1
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000206107
Ensembl biotype	protein_coding
Entrez	643812

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000382835

RefSeq mRNA: 1 — MANE Select: NM_001077711 NM_001077711

CCDS: CCDS33532

Canonical transcript exons

ENST00000382835 — 1 exons

Exon	Start	End
ENSE00001493501	30337013	30337694

Expression profiles

Bgee: expression breadth tissue_specific, 2 present calls, max score 51.97.

Top tissues by expression

126 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	51.97	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	35.21	gold quality
muscle tissue	UBERON:0002385	32.40	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
prefrontal cortex	UBERON:0000451	29.04	gold quality
duodenum	UBERON:0002114	28.14	gold quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.09	gold quality
tonsil	UBERON:0002372	27.05	gold quality
monocyte	CL:0000576	27.04	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.29	gold quality
gall bladder	UBERON:0002110	25.98	gold 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
muscle of leg	UBERON:0001383	24.89	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality
superior frontal gyrus	UBERON:0002661	24.08	gold quality
pancreas	UBERON:0001264	23.89	gold quality
frontal cortex	UBERON:0001870	23.79	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.48

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap27-1	ENSMUSG00000090515
rattus_norvegicus		ENSRNOG00000086824

Paralogs (8): KRTAP11-1 (ENSG00000182591), KRTAP13-2 (ENSG00000182816), KRTAP15-1 (ENSG00000186970), KRTAP13-4 (ENSG00000186971), KRTAP26-1 (ENSG00000197683), KRTAP13-1 (ENSG00000198390), KRTAP25-1 (ENSG00000232263), KRTAP13-3 (ENSG00000240432)

Protein

Protein identifiers

Keratin-associated protein 27-1 — Q3LI81 (reviewed: Q3LI81)

All UniProt accessions (1): Q3LI81

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_001071179* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007659	Keratin_matx	Family
IPR007951	KRTAP_PMG	Family

Pfam: PF05287

UniProt features (3 total): chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3LI81-F1	51.75	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): chr21q22, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER

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

114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP27-1	KRTAP24-1	Q3LI83	847
KRTAP27-1	SCYGR1	A0A286YEY9	773
KRTAP27-1	KRTAP15-1	Q3LI76	772
KRTAP27-1	KRTAP25-1	Q3LHN0	772
KRTAP27-1	KRTAP20-1	Q3LI63	771
KRTAP27-1	KRTAP20-2	Q3LI61	720
KRTAP27-1	KRTAP26-1	Q6PEX3	720
KRTAP27-1	KRTAP1-4	P0C5Y4	676
KRTAP27-1	KRTAP13-3	Q3SY46	667
KRTAP27-1	KRTAP22-1	Q3MIV0	645
KRTAP27-1	KRTAP13-1	Q8IUC0	607
KRTAP27-1	KRTAP7-1	Q8IUC3	544
KRTAP27-1	KRTAP8-1	Q8IUC2	512
KRTAP27-1	SH2D4A	Q9H788	507
KRTAP27-1	USP40	Q9NVE5	447

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A1A580, A2A591, A2A5X4, A2A5X5, A8MUX0, A8MX34, B2RUR4, O13152, O93499, O93500, P02444, P02445, P02446, P02447, P02449, P02450, P02451, P04458, P07521, P08335, P0DV60, P20307, P20308, P25692, P60329, Q24JX8, Q24JX9, Q3LI81, Q3LI83, Q4KL71, Q5T749, Q5T750, Q5TA77, Q6PEX3, Q6R648, Q6S343, Q7TQM5, Q8IUC1, Q92012, Q98U05

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

178 predictions. Top by Δscore:

Variant	Effect	Δscore
21:30337438:TTGC:T	donor_gain	0.8200
21:30337386:AGGG:A	donor_gain	0.7900
21:30337435:A:AC	donor_gain	0.7900
21:30337436:C:CC	donor_gain	0.7900
21:30337437:TTTG:T	donor_gain	0.7600
21:30337067:C:CT	donor_gain	0.7100
21:30337466:T:TA	donor_gain	0.7000
21:30337068:C:CT	donor_gain	0.6900
21:30337051:A:AC	donor_gain	0.6800
21:30337052:C:CC	donor_gain	0.6800
21:30337231:A:AC	donor_gain	0.6700
21:30337463:AAGT:A	donor_gain	0.6700
21:30337052:CTA:C	donor_gain	0.6600
21:30337377:T:TA	donor_gain	0.6600
21:30337421:C:CA	donor_gain	0.6500
21:30337096:T:TA	donor_gain	0.6400
21:30337447:G:C	donor_gain	0.6300
21:30337052:CTAGG:C	donor_gain	0.6100
21:30337256:C:A	donor_gain	0.6100
21:30337047:ACTT:A	donor_loss	0.6000
21:30337049:TTA:T	donor_loss	0.6000
21:30337050:TACT:T	donor_loss	0.6000
21:30337051:A:T	donor_loss	0.6000
21:30337052:C:CG	donor_loss	0.6000
21:30337436:CTTT:C	donor_gain	0.6000
21:30337046:CACTT:C	donor_loss	0.5900
21:30337038:CAGAT:C	donor_gain	0.5800
21:30337052:CT:C	donor_gain	0.5800
21:30337232:G:C	donor_gain	0.5800
21:30337045:TCAC:T	donor_loss	0.5700

AlphaMissense

1379 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:30337555:G:C	S38R	0.836
21:30337555:G:T	S38R	0.836
21:30337557:T:G	S38R	0.836
21:30337291:A:C	F126L	0.709
21:30337291:A:T	F126L	0.709
21:30337293:A:G	F126L	0.709
21:30337549:G:C	F40L	0.706
21:30337549:G:T	F40L	0.706
21:30337551:A:G	F40L	0.706
21:30337579:A:C	F30L	0.692
21:30337579:A:T	F30L	0.692
21:30337581:A:G	F30L	0.692
21:30337607:A:C	I21S	0.657
21:30337607:A:G	I21T	0.651
21:30337562:A:G	L36S	0.640
21:30337519:A:C	F50L	0.623
21:30337519:A:T	F50L	0.623
21:30337521:A:G	F50L	0.623
21:30337633:G:C	F12L	0.592
21:30337633:G:T	F12L	0.592
21:30337635:A:G	F12L	0.592
21:30337616:A:T	L18H	0.581
21:30337083:A:G	C196R	0.580
21:30337607:A:T	I21N	0.568

dbSNP variants (sampled 300 via entrez): RS1000253652 (21:30337312 T>C), RS1000363509 (21:30338940 G>T), RS1001220065 (21:30338437 A>G), RS1001249610 (21:30338827 G>A), RS1002700206 (21:30336680 C>A,T), RS1005939709 (21:30336623 G>C), RS1006415596 (21:30337925 G>A), RS1006790462 (21:30337668 T>A), RS1007340805 (21:30339096 C>T), RS1007828811 (21:30339558 C>A), RS1009906928 (21:30338633 A>G), RS1011232427 (21:30338841 C>G,T), RS1012802841 (21:30336974 T>A,C,G), RS1015405431 (21:30336804 C>G), RS1016447699 (21:30337827 C>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 S	increases methylation	1
Benzo(a)pyrene	decreases methylation	1
Malathion	increases expression	1
Oxygen	increases expression	1
Permethrin	increases expression	1

Clinical trials (associated diseases)

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