KRTAP5-10

Summary

KRTAP5-10 (keratin associated protein 5-10, HGNC:23605) is a protein-coding gene on chromosome 11q13.4, encoding Keratin-associated protein 5-10 (Q6L8G5). 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 387273 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_001012710

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23605
Approved symbol	KRTAP5-10
Name	keratin associated protein 5-10
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP5.10
Ensembl gene	ENSG00000204572
Ensembl biotype	protein_coding
Entrez	387273

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000398531

RefSeq mRNA: 1 — MANE Select: NM_001012710 NM_001012710

CCDS: CCDS41684

Canonical transcript exons

ENST00000398531 — 1 exons

Exon	Start	End
ENSE00001533489	71565563	71566735

Expression profiles

Bgee: expression breadth ubiquitous, 108 present calls, max score 85.02.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.38	silver quality
right uterine tube	UBERON:0001302	56.02	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	53.18	gold quality
putamen	UBERON:0001874	51.50	gold quality
mucosa of stomach	UBERON:0001199	50.22	gold quality
tibial nerve	UBERON:0001323	49.74	gold quality
primary visual cortex	UBERON:0002436	49.57	gold quality
nucleus accumbens	UBERON:0001882	49.39	gold quality
skin of leg	UBERON:0001511	49.32	gold quality
mucosa of transverse colon	UBERON:0004991	49.15	gold quality
caudate nucleus	UBERON:0001873	49.09	gold quality
metanephros cortex	UBERON:0010533	48.85	gold quality
zone of skin	UBERON:0000014	48.73	gold quality
skin of abdomen	UBERON:0001416	48.57	gold quality
lower esophagus mucosa	UBERON:0035834	48.14	gold quality
right lobe of liver	UBERON:0001114	48.04	silver quality
cortex of kidney	UBERON:0001225	47.61	gold quality
subcutaneous adipose tissue	UBERON:0002190	46.59	gold quality
prostate gland	UBERON:0002367	46.49	gold quality
fallopian tube	UBERON:0003889	46.42	gold quality
thoracic mammary gland	UBERON:0005200	46.22	gold quality
tibial artery	UBERON:0007610	45.99	gold quality
popliteal artery	UBERON:0002250	45.95	gold quality
adenohypophysis	UBERON:0002196	45.69	gold quality
urinary bladder	UBERON:0001255	45.39	gold quality
cerebellum	UBERON:0002037	45.33	silver quality
gastrocnemius	UBERON:0001388	45.32	gold quality
cerebellar cortex	UBERON:0002129	45.25	silver quality
cerebellar hemisphere	UBERON:0002245	45.11	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting KRTAP5-10, 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-4533	100.00	69.48	2758
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-6760-5P	98.87	66.73	1515
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-1199-5P	98.44	66.51	829
HSA-MIR-6751-3P	98.44	66.35	835
HSA-MIR-211-3P	98.14	66.77	1052
HSA-MIR-493-3P	97.50	66.44	731
HSA-MIR-558	97.50	67.16	977
HSA-MIR-125A-3P	97.04	66.92	902
HSA-MIR-552-3P	96.68	64.12	1026
HSA-MIR-12128	96.67	66.98	1471
HSA-MIR-4264	96.35	64.76	1480
HSA-MIR-1245A	96.33	66.25	498
HSA-MIR-8079	96.33	66.11	484
HSA-MIR-6853-5P	93.94	61.88	114

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Keratin-associated protein 5-10 — Q6L8G5 (reviewed: Q6L8G5)

Alternative names: Keratin-associated protein 5.10, Ultrahigh sulfur keratin-associated protein 5.10

All UniProt accessions (1): Q6L8G5

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. Expressed also in brain and skeletal muscle.

Similarity. Belongs to the KRTAP type 5 family.

RefSeq proteins (1): NP_001012728* (*=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-Q6L8G5-F1	45.90	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: 18 (showing top): chr11q13, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, MARTENS_TRETINOIN_RESPONSE_UP, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, ZWANG_EGF_INTERVAL_UP, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MIR4441, MIR3185, MIR4270, MIR12128, MIR6754_5P, MIR5187_5P

GO Biological Process (0):

GO Molecular Function (0):

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

Protein interactions and networks

STRING

208 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP5-10	OR2G3	Q8NGZ4	631
KRTAP5-10	OR2G2	Q8NGZ5	585
KRTAP5-10	KRTAP5-7	Q6L8G8	582
KRTAP5-10	OR13G1	Q8NGZ3	537
KRTAP5-10	OR6F1	Q8NGZ6	518
KRTAP5-10	AQP12B	A6NM10	512
KRTAP5-10	OR14A16	Q8NHC5	509
KRTAP5-10	OR1C1	Q15619	496
KRTAP5-10	OR11L1	Q8NGX0	475
KRTAP5-10	OR4M2	Q8NGB6	447
KRTAP5-10	OR4N4	Q8N0Y3	446
KRTAP5-10	FAM86C1P	Q9NVL1	435
KRTAP5-10	AQP12A	Q8IXF9	393
KRTAP5-10	ZNF480	Q8WV37	380
KRTAP5-10	ANKRD13D	Q6ZTN6	379

IntAct

0 interactions, top by confidence:

BioGRID (1): KRTAP5-10 (Negative Genetic)

ESM2 similar proteins: A0A286YEV6, A0A286YEX9, A0A286YF01, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, C0J7L8, O08884, P04459, P18165, P26371, P26372, Q01644, Q02957, Q02958, Q3LI54, Q3LI58, Q3LI59, Q3LI61, Q3LI63, Q3LI64, Q3LI66, Q3LI67, Q3LI70, Q3LI72, Q3SYF9, Q62220, Q64507, Q6L8G5, Q6L8H1, Q6L8H2, Q6L8H4, Q701N2, Q701N4, Q7Z4W3, Q8C1I6, Q8IUB9, Q925H2, Q925H3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

320 predictions. Top by Δscore:

Variant	Effect	Δscore
11:71565776:C:G	donor_gain	0.9700
11:71565801:G:GT	donor_gain	0.9500
11:71565635:T:TA	donor_gain	0.9000
11:71565775:GCT:G	donor_gain	0.8800
11:71566405:A:AG	acceptor_gain	0.8800
11:71566406:G:GG	acceptor_gain	0.8800
11:71565832:G:GT	donor_gain	0.8700
11:71565610:G:GT	donor_gain	0.8600
11:71566184:GT:G	donor_gain	0.8600
11:71566404:CAGGA:C	acceptor_loss	0.8600
11:71566405:A:T	acceptor_loss	0.8600
11:71566406:G:GT	acceptor_loss	0.8600
11:71566404:CAGG:C	acceptor_gain	0.8500
11:71566405:AGGA:A	acceptor_gain	0.8500
11:71566406:GGA:G	acceptor_gain	0.8500
11:71566406:GGAG:G	acceptor_gain	0.8500
11:71565613:G:GT	donor_gain	0.8400
11:71565636:T:TA	donor_gain	0.8300
11:71565780:G:GA	donor_gain	0.8100
11:71565804:G:T	donor_gain	0.8100
11:71566405:AG:A	acceptor_gain	0.8100
11:71566406:GG:G	acceptor_gain	0.8100
11:71566493:C:A	acceptor_gain	0.8100
11:71565737:GCCC:G	donor_gain	0.8000
11:71565631:G:GT	donor_gain	0.7800
11:71566399:T:TA	acceptor_gain	0.7800
11:71565802:G:T	donor_gain	0.7500
11:71566287:G:GC	acceptor_gain	0.7400
11:71565804:G:GT	donor_gain	0.7300
11:71566275:C:CA	acceptor_gain	0.7300

AlphaMissense

1304 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:71566158:A:C	S191R	0.668
11:71566160:C:A	S191R	0.668
11:71566160:C:G	S191R	0.668
11:71565890:G:C	K101N	0.644
11:71565890:G:T	K101N	0.644
11:71565737:G:C	K50N	0.637
11:71565737:G:T	K50N	0.637
11:71566098:A:C	S171R	0.631
11:71566100:C:A	S171R	0.631
11:71566100:C:G	S171R	0.631
11:71565860:G:C	K91N	0.626
11:71565860:G:T	K91N	0.626
11:71565920:G:C	K111N	0.626
11:71565920:G:T	K111N	0.626
11:71565950:A:C	K121N	0.626
11:71565950:A:T	K121N	0.626
11:71566161:T:C	C192R	0.612
11:71566128:A:C	S181R	0.600
11:71566130:C:A	S181R	0.600
11:71566130:C:G	S181R	0.600
11:71566178:C:G	C197W	0.599
11:71566118:C:G	C177W	0.584
11:71566176:T:C	C197R	0.582
11:71565949:A:T	K121I	0.577
11:71566190:G:C	K201N	0.572
11:71566190:G:T	K201N	0.572
11:71566192:T:G	I202S	0.569
11:71566166:T:G	C193W	0.568
11:71566163:C:G	C192W	0.566

dbSNP variants (sampled 300 via entrez): RS1002822159 (11:71566695 T>C), RS1006482098 (11:71563801 A>G), RS1006672005 (11:71566941 A>T), RS1006983508 (11:71566800 T>C), RS1010329335 (11:71564235 A>C), RS1011146946 (11:71567184 C>A), RS1011936039 (11:71563733 G>A,T), RS1012782319 (11:71566417 T>G), RS1013486164 (11:71563586 C>A,T), RS1013501919 (11:71563748 C>T), RS1014490754 (11:71564887 C>T), RS1017409008 (11:71565095 C>T), RS1019692584 (11:71566958 C>T), RS1020364065 (11:71564570 T>C), RS1020511789 (11:71564236 T>C)

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

6 total (human), top 6 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
butyraldehyde	decreases expression	1
arsenic disulfide	increases methylation	1
Resveratrol	decreases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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