KRTAP5-7

Summary

KRTAP5-7 (keratin associated protein 5-7, HGNC:23602) is a protein-coding gene on chromosome 11q13.4, encoding Keratin-associated protein 5-7 (Q6L8G8). 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 located in cytosol.

Source: NCBI Gene 440050 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_001012503

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23602
Approved symbol	KRTAP5-7
Name	keratin associated protein 5-7
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP5.7, KRTAP5-3
Ensembl gene	ENSG00000244411
Ensembl biotype	protein_coding
Entrez	440050

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000398536

RefSeq mRNA: 1 — MANE Select: NM_001012503 NM_001012503

CCDS: CCDS41682

Canonical transcript exons

ENST00000398536 — 1 exons

Exon	Start	End
ENSE00001533519	71527267	71528669

Expression profiles

Bgee: expression breadth broad, 50 present calls, max score 57.67.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
substantia nigra	UBERON:0002038	57.67	gold quality
hypothalamus	UBERON:0001898	55.55	gold quality
superior frontal gyrus	UBERON:0002661	55.44	gold quality
putamen	UBERON:0001874	55.21	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	55.20	gold quality
Brodmann (1909) area 9	UBERON:0013540	54.89	gold quality
anterior cingulate cortex	UBERON:0009835	54.60	gold quality
nucleus accumbens	UBERON:0001882	54.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	54.31	gold quality
right frontal lobe	UBERON:0002810	54.24	gold quality
caudate nucleus	UBERON:0001873	54.14	gold quality
Ammon’s horn	UBERON:0001954	53.81	gold quality
cerebral cortex	UBERON:0000956	52.87	gold quality
left testis	UBERON:0004533	52.85	gold quality
temporal lobe	UBERON:0001871	52.77	gold quality
amygdala	UBERON:0001876	52.67	gold quality
right testis	UBERON:0004534	52.59	gold quality
testis	UBERON:0000473	52.38	gold quality
frontal cortex	UBERON:0001870	51.40	gold quality
brain	UBERON:0000955	51.14	gold quality
primary visual cortex	UBERON:0002436	50.67	gold quality
cortical plate	UBERON:0005343	49.79	gold quality
prefrontal cortex	UBERON:0000451	49.52	gold quality
cerebellar cortex	UBERON:0002129	48.81	gold quality
cerebellar hemisphere	UBERON:0002245	48.78	gold quality
cerebellum	UBERON:0002037	48.74	gold quality
right hemisphere of cerebellum	UBERON:0014890	48.53	gold quality
ventricular zone	UBERON:0003053	47.85	silver quality
right lobe of liver	UBERON:0001114	47.19	gold quality
bone marrow cell	CL:0002092	45.17	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)

17 targeting KRTAP5-7, 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-4283	100.00	66.42	2097
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-4519	99.48	66.10	859
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-4731-3P	98.56	68.60	1860
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-769-5P	94.45	64.56	603

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 5-7 — Q6L8G8 (reviewed: Q6L8G8)

Alternative names: Keratin-associated protein 5-3, Keratin-associated protein 5.3, Keratin-associated protein 5.7, Ultrahigh sulfur keratin-associated protein 5.7

All UniProt accessions (1): Q6L8G8

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.

Subunit / interactions. Interacts with hair keratins.

Tissue specificity. Expressed in hair root but not in skin.

Similarity. Belongs to the KRTAP type 5 family.

RefSeq proteins (1): NP_001012521* (*=MANE)

Domains & families (InterPro)

UniProt features (9 total): repeat 7, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6L8G8-F1	41.99	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: 16 (showing top): chr11q13, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR4283, MIR4779, GSE13173_UNTREATED_VS_IL12_TREATED_ACT_CD8_TCELL_UP, GSE14413_UNSTIM_VS_IFNB_STIM_RAW264_CELLS_DN, GSE13887_ACT_CD4_VS_NO_TREATED_CD4_TCELL_DN, GSE3920_UNTREATED_VS_IFNA_TREATED_FIBROBLAST_UP, GSE6674_UNSTIM_VS_ANTI_IGM_STIM_BCELL_DN

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

280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP5-7	KRTAP5-11	Q6L8G4	715
KRTAP5-7	KRTAP5-5	Q701N2	665
KRTAP5-7	OR2G3	Q8NGZ4	608
KRTAP5-7	KRTAP5-10	Q6L8G5	582
KRTAP5-7	KRTAP19-8	Q3LI54	580
KRTAP5-7	OR1N1	Q8NGS0	575
KRTAP5-7	NPIPB13	A6NJU9	574
KRTAP5-7	OR2G2	Q8NGZ5	573
KRTAP5-7	OR14A16	Q8NHC5	540
KRTAP5-7	KRTAP16-1	A8MUX0	527
KRTAP5-7	OR56A3	Q8NH54	515
KRTAP5-7	OR8B12	Q8NGG6	507
KRTAP5-7	OR5M10	Q6IEU7	507
KRTAP5-7	OR11L1	Q8NGX0	480
KRTAP5-7	KRTAP5-6	Q6L8G9	479

IntAct

186 interactions, top by confidence:

A	B	Type	Score
KRTAP5-7	KRTAP4-2	psi-mi:“MI:0915”(physical association)	0.600
KRTAP5-7	KRTAP5-6	psi-mi:“MI:0915”(physical association)	0.600
KRTAP4-2	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.600
LCE2D	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	MACO1	psi-mi:“MI:0915”(physical association)	0.560
PHLDA1	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	LCE3D	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	ZNF440	psi-mi:“MI:0915”(physical association)	0.560
LCE3E	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	MRGBP	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	UXT	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	ZNF613	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	SHFL	psi-mi:“MI:0915”(physical association)	0.560
LCE4A	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	GUCD1	psi-mi:“MI:0915”(physical association)	0.560
WNT11	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-11	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
SPATA3	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	PTPMT1	psi-mi:“MI:0915”(physical association)	0.560
LCE3A	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
SCARF1	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
HHEX	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
MAPKBP1	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	TRIM42	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	KRTAP5-2	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	SAMD11	psi-mi:“MI:0915”(physical association)	0.560
IL2RG	KRTAP5-7	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-7	IGSF8	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (70): KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (Two-hybrid), KRTAP5-7 (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

Diamond homologs: Q6L8G4, Q6L8G8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 60 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Keratinization	18	22.8×	2e-18
Formation of the cornified envelope	11	22.0×	1e-10

GO biological processes:

GO term	Partners	Fold	FDR
keratinization	11	49.5×	5e-14

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	63
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

439 predictions. Top by Δscore:

Variant	Effect	Δscore
11:71527493:G:GT	donor_gain	0.9900
11:71527494:G:T	donor_gain	0.9900
11:71527468:C:G	donor_gain	0.9500
11:71527786:GT:G	donor_gain	0.9500
11:71527494:G:GT	donor_gain	0.9000
11:71527944:A:T	donor_gain	0.9000
11:71527994:A:G	acceptor_gain	0.8800
11:71527981:A:G	acceptor_gain	0.8600
11:71528058:G:C	acceptor_gain	0.8400
11:71527497:G:GT	donor_gain	0.8300
11:71527980:A:AG	acceptor_gain	0.8300
11:71527429:GCCC:G	donor_gain	0.8200
11:71527814:TCTC:T	donor_gain	0.8200
11:71527820:G:GG	donor_gain	0.8200
11:71528443:CCTA:C	acceptor_loss	0.8200
11:71528444:CTAG:C	acceptor_loss	0.8200
11:71528445:TA:T	acceptor_loss	0.8200
11:71528446:A:AC	acceptor_loss	0.8200
11:71528447:G:A	acceptor_loss	0.8200
11:71527326:G:GT	donor_gain	0.8100
11:71527524:G:T	donor_gain	0.8100
11:71527467:GCT:G	donor_gain	0.8000
11:71527792:G:GT	donor_gain	0.8000
11:71528327:C:CA	acceptor_gain	0.8000
11:71527993:A:AG	acceptor_gain	0.7900
11:71527995:G:GG	acceptor_gain	0.7700
11:71528430:GAAC:G	acceptor_gain	0.7700
11:71528430:GAACC:G	acceptor_gain	0.7500
11:71527389:G:T	donor_gain	0.7200
11:71527472:G:GA	donor_gain	0.7200

AlphaMissense

1065 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:71527794:T:G	I165S	0.675
11:71527794:T:C	I165T	0.647
11:71527673:A:C	S125R	0.607
11:71527675:C:A	S125R	0.607
11:71527675:C:G	S125R	0.607
11:71527792:G:C	K164N	0.595
11:71527792:G:T	K164N	0.595
11:71527429:G:C	K43N	0.591
11:71527429:G:T	K43N	0.591
11:71527794:T:A	I165N	0.565

dbSNP variants (sampled 300 via entrez): RS1000287674 (11:71526487 C>A,G), RS1000840404 (11:71527777 G>A), RS1001457926 (11:71525516 C>A,T), RS1002612003 (11:71527874 C>A,T), RS1002708454 (11:71528176 C>T), RS1003599478 (11:71529076 A>C), RS1004402730 (11:71526791 C>T), RS1006629255 (11:71528845 G>A), RS1006971759 (11:71528641 C>A), RS1008183703 (11:71527190 T>C), RS1010869115 (11:71526679 A>ACCATGAGGAAAAGCT), RS1011497896 (11:71528903 A>G,T), RS1012755665 (11:71527508 T>C), RS1014318420 (11:71525571 C>T), RS1014539823 (11:71526543 C>G,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
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Estradiol	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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