KRTAP5-8

Summary

KRTAP5-8 (keratin associated protein 5-8, HGNC:23603) is a protein-coding gene on chromosome 11q13.4, encoding Keratin-associated protein 5-8 (O75690). In the hair cortex, hair keratin intermediate filaments are embedded in an interfilamentous matrix, consisting of hair keratin-associated protein (KRTAP), which are essential for the formation of a rigid and resistant hair shaft through their extensive disulfide bond cross-linki….

Predicted to be a structural constituent of skin epidermis. Predicted to be located in cytosol.

Source: NCBI Gene 57830 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_021046

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23603
Approved symbol	KRTAP5-8
Name	keratin associated protein 5-8
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP5.8, UHSKerB, KRTAP5-2
Ensembl gene	ENSG00000241233
Ensembl biotype	protein_coding
Entrez	57830

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000398534

RefSeq mRNA: 1 — MANE Select: NM_021046 NM_021046

CCDS: CCDS41683

Canonical transcript exons

ENST00000398534 — 1 exons

Exon	Start	End
ENSE00001533511	71538025	71539209

Expression profiles

Bgee: expression breadth broad, 89 present calls, max score 86.48.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	86.48	gold quality
upper arm skin	UBERON:0004263	81.47	gold quality
cervix squamous epithelium	UBERON:0006922	78.26	gold quality
diaphragm	UBERON:0001103	77.85	gold quality
vastus lateralis	UBERON:0001379	76.20	gold quality
triceps brachii	UBERON:0001509	75.89	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.74	silver quality
quadriceps femoris	UBERON:0001377	74.80	gold quality
gluteal muscle	UBERON:0002000	74.36	gold quality
mucosa of urinary bladder	UBERON:0001259	74.32	gold quality
type B pancreatic cell	CL:0000169	73.88	gold quality
endothelial cell	CL:0000115	73.82	gold quality
biceps brachii	UBERON:0001507	73.32	gold quality
periodontal ligament	UBERON:0008266	72.93	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	72.12	gold quality
olfactory bulb	UBERON:0002264	71.74	gold quality
pancreatic ductal cell	CL:0002079	70.96	silver quality
vena cava	UBERON:0004087	70.82	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	70.70	gold quality
oocyte	CL:0000023	70.34	gold quality
decidua	UBERON:0002450	69.81	gold quality
thymus	UBERON:0002370	68.71	gold quality
epithelial cell of pancreas	CL:0000083	68.43	gold quality
blood vessel layer	UBERON:0004797	67.63	silver quality
cervix epithelium	UBERON:0004801	67.36	gold quality
secondary oocyte	CL:0000655	67.20	gold quality
nasal cavity epithelium	UBERON:0005384	66.54	gold quality
choroid plexus epithelium	UBERON:0003911	66.36	gold quality
epithelium of esophagus	UBERON:0001976	65.92	gold quality
nipple	UBERON:0002030	65.89	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)

38 targeting KRTAP5-8, 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-5193	100.00	67.26	1744
HSA-MIR-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-5197-3P	98.71	67.05	1905
HSA-MIR-3145-5P	98.57	67.83	900

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap5-21	ENSMUSG00000073786
mus_musculus	Krtap5-25	ENSMUSG00000110061
mus_musculus	Krtap5-23	ENSMUSG00000110091

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), KRTAP5-5 (ENSG00000185940), KRTAP12-1 (ENSG00000187175), KRTAP9-8 (ENSG00000187272), KRTAP10-8 (ENSG00000187766), KRTAP10-6 (ENSG00000188155), KRTAP1-1 (ENSG00000188581), KRTAP10-12 (ENSG00000189169), KRTAP4-3 (ENSG00000196156), KRTAP9-9 (ENSG00000198083), KRTAP4-6 (ENSG00000198090), KRTAP4-5 (ENSG00000198271), KRTAP4-1 (ENSG00000198443), KRTAP9-3 (ENSG00000204873), KRTAP4-8 (ENSG00000204880), KRTAP1-4 (ENSG00000204887), KRTAP12-3 (ENSG00000205439), KRTAP10-2 (ENSG00000205445), KRTAP5-6 (ENSG00000205864), KRTAP5-2 (ENSG00000205867), KRTAP16-1 (ENSG00000212657), KRTAP9-6 (ENSG00000212659), KRTAP4-11 (ENSG00000212721), KRTAP4-9 (ENSG00000212722), KRTAP2-3 (ENSG00000212724), KRTAP2-1 (ENSG00000212725), KRTAP10-3 (ENSG00000212935), KRTAP4-12 (ENSG00000213416), KRTAP2-4 (ENSG00000213417), KRTAP2-2 (ENSG00000214518), KRTAP10-4 (ENSG00000215454), KRTAP10-1 (ENSG00000215455), KRTAP10-9 (ENSG00000221837), KRTAP1-5 (ENSG00000221852), KRTAP10-10 (ENSG00000221859), KRTAP12-2 (ENSG00000221864), KRTAP1-3 (ENSG00000221880), KRTAP9-2 (ENSG00000239886), KRTAP9-1 (ENSG00000240542)

Protein

Protein identifiers

Keratin-associated protein 5-8 — O75690 (reviewed: O75690)

Alternative names: Keratin, ultra high-sulfur matrix protein B, Keratin-associated protein 5.8, UHS keratin B, Ultrahigh sulfur keratin-associated protein 5.8

All UniProt accessions (1): O75690

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 protein (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.

Tissue specificity. Restricted to hair root, not detected in any other tissues. Expressed in cuticle layers of differentiating hair follicles.

Similarity. Belongs to the KRTAP type 5 family.

RefSeq proteins (1): NP_066384* (*=MANE)

Domains & families (InterPro)

UniProt features (15 total): repeat 9, sequence conflict 3, chain 1, region of interest 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75690-F1	38.77	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: 47 (showing top): DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, chr11q13, MARTINEZ_RB1_TARGETS_DN, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, LEE_AGING_MUSCLE_UP, DURCHDEWALD_SKIN_CARCINOGENESIS_UP, MULLIGHAN_MLL_SIGNATURE_2_DN, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, MULLIGHAN_MLL_SIGNATURE_1_DN, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MIKKELSEN_MEF_LCP_WITH_H3K27ME3, FIGUEROA_AML_METHYLATION_CLUSTER_1_DN

GO Biological Process (0):

GO Molecular Function (2): structural constituent of skin epidermis (GO:0030280), 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
structural molecule activity	1
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1

Protein interactions and networks

STRING

84 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP5-8	KRT33A	O76009	0
KRTAP5-8	KRT32	Q14532	0
KRTAP5-8	GPRC5D	Q9NZD1	0
KRTAP5-8	KRT38	O76015	0
KRTAP5-8	KRT33B	Q14525	0
KRTAP5-8	KRTAP9-8	Q9BYQ0	0
KRTAP5-8	KRT85	P78386	0
KRTAP5-8	KRT82	Q9NSB4	0
KRTAP5-8	KRT71	Q3SY84	0
KRTAP5-8	HHEX	Q03014	0
KRTAP5-8	KRT83	P78385	0
KRTAP5-8	KRT27	Q7Z3Y8	0
KRTAP5-8	KRTAP1-1	Q07627	0
KRTAP5-8	KRT74	Q7RTS7	0
KRTAP5-8	WNT11	O96014	0
KRTAP5-8	LYG2	Q86SG7	0
KRTAP5-8	KRTAP4-8	Q9BYQ9	0
KRTAP5-8	KRTAP11-1	Q8IUC1	0
KRTAP5-8	KRTAP8-1	Q8IUC2	0
KRTAP5-8	KRTAP17-1	Q9BYP8	0
KRTAP5-8	KRTAP10-11	P60412	0
KRTAP5-8	KRTAP9-4	Q9BYQ2	0
KRTAP5-8	KRTAP4-5	Q9BYR2	0
KRTAP5-8	KRTAP1-3	Q8IUG1	0
KRTAP5-8	KRTAP13-1	Q8IUC0	0
KRTAP5-8	KRTAP1-5	Q9BYS1	0
KRTAP5-8	KRTAP5-6	Q6L8G9	0
KRTAP5-8	KRTAP5-1	Q6L8H4	0
KRTAP5-8	KRTAP4-3	Q9BYR4	0
KRTAP5-8	KRTAP2-1	Q9BYU5	0

IntAct

10 interactions, top by confidence:

A	B	Type	Score
KRTAP5-8	HHEX	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-8	CRCT1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-8	WNT11	psi-mi:“MI:0915”(physical association)	0.560
HHEX	KRTAP5-8	psi-mi:“MI:0915”(physical association)	0.000
WNT11	KRTAP5-8	psi-mi:“MI:0915”(physical association)	0.000
CRCT1	KRTAP5-8	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (7): KRTAP5-8 (Two-hybrid), KRTAP5-8 (Two-hybrid), KRTAP5-8 (Two-hybrid), KRTAP5-8 (Positive Genetic), KRTAP5-8 (Two-hybrid), KRTAP5-8 (Two-hybrid), KRTAP5-8 (Two-hybrid)

ESM2 similar proteins: A5A6P5, A6QP35, A8MTY7, A8MVA2, A8MXZ3, O75690, P02438, P02441, P02442, P02443, P08131, P0C7H8, P26371, P59990, P59991, P60014, P60331, P60368, P60369, P60370, P60371, P60372, P60409, P60410, P60411, P60412, P60413, Q05B44, Q07627, Q3V2C1, Q6L8G4, Q6L8G8, Q6L8G9, Q6L8H2, Q701N4, Q8IUG1, Q9BQ66, Q9BYP9, Q9BYQ0, Q9BYQ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1211 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:71538615:T:G	I187S	0.701
11:71538615:T:C	I187T	0.675
11:71538494:A:C	S147R	0.632
11:71538496:C:A	S147R	0.632
11:71538496:C:G	S147R	0.632
11:71538613:G:C	K186N	0.580
11:71538613:G:T	K186N	0.580
11:71538615:T:A	I187N	0.571
11:71538163:G:C	K36N	0.568
11:71538163:G:T	K36N	0.568

dbSNP variants (sampled 300 via entrez): RS1002263328 (11:71536037 T>C), RS1004656125 (11:71537895 C>G,T), RS1006328664 (11:71536358 G>A,T), RS1008660380 (11:71538755 A>G,T), RS1010284034 (11:71537522 T>G), RS1012587876 (11:71537610 T>G), RS1013174158 (11:71539094 G>A), RS1013560087 (11:71539279 C>A,T), RS1013869363 (11:71536058 G>A), RS1014214427 (11:71536311 A>G), RS1014674020 (11:71538200 A>AGCTGTGGCT), RS1014749102 (11:71537899 T>C), RS1015619293 (11:71539150 G>A), RS1015753521 (11:71539307 G>A), RS1016428399 (11:71536372 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

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
perfluorooctanoic acid	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression, increases abundance	1
Cadmium Chloride	decreases expression, increases abundance	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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