KRTAP5-5

Summary

KRTAP5-5 (keratin associated protein 5-5, HGNC:23601) is a protein-coding gene on chromosome 11p15.5, encoding Keratin-associated protein 5-5 (Q701N2). 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 act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in cytosol.

Source: NCBI Gene 439915 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_001001480

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23601
Approved symbol	KRTAP5-5
Name	keratin associated protein 5-5
Location	11p15.5
Locus type	gene with protein product
Status	Approved
Aliases	KRTAP5.5, KRTAP5-11
Ensembl gene	ENSG00000185940
Ensembl biotype	protein_coding
Entrez	439915

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000399676

RefSeq mRNA: 1 — MANE Select: NM_001001480 NM_001001480

CCDS: CCDS41592

Canonical transcript exons

ENST00000399676 — 1 exons

Exon	Start	End
ENSE00001539583	1629775	1630930

Expression profiles

Bgee: expression breadth broad, 33 present calls, max score 94.70.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
thymus	UBERON:0002370	94.70	gold quality
quadriceps femoris	UBERON:0001377	76.61	gold quality
cerebellar vermis	UBERON:0004720	68.53	gold quality
mucosa of transverse colon	UBERON:0004991	53.21	gold quality
cerebellar hemisphere	UBERON:0002245	50.57	gold quality
cerebellum	UBERON:0002037	50.35	gold quality
cerebellar cortex	UBERON:0002129	50.27	gold quality
right hemisphere of cerebellum	UBERON:0014890	49.83	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	44.41	silver quality
gall bladder	UBERON:0002110	40.99	gold quality
ventricular zone	UBERON:0003053	40.61	silver quality
skin of abdomen	UBERON:0001416	40.18	gold quality
zone of skin	UBERON:0000014	39.95	gold quality
skin of leg	UBERON:0001511	39.95	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
sural nerve	UBERON:0015488	36.37	gold quality
hindlimb stylopod muscle	UBERON:0004252	36.26	silver quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
transverse colon	UBERON:0001157	34.67	gold quality
duodenum	UBERON:0002114	34.62	gold quality
skeletal muscle tissue	UBERON:0001134	34.55	silver quality
islet of Langerhans	UBERON:0000006	34.21	gold quality
small intestine	UBERON:0002108	32.65	gold quality
bone marrow	UBERON:0002371	32.54	silver quality
muscle tissue	UBERON:0002385	31.95	silver quality
small intestine Peyer’s patch	UBERON:0003454	31.95	gold quality
fundus of stomach	UBERON:0001160	31.87	silver quality
pituitary gland	UBERON:0000007	31.57	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting KRTAP5-5, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-218-5P	99.93	72.22	2103
HSA-MIR-3663-3P	99.84	70.39	798
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-4768-3P	98.16	66.02	2330
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-3936	97.64	64.47	732
HSA-MIR-575	97.54	65.18	718
HSA-MIR-6806-5P	96.37	68.74	587
HSA-MIR-12115	94.19	66.37	738

Literature-anchored findings (GeneRIF, showing 1)

• KRTAP5-5 expression is significantly downregulated in human masticatory mucosa during wound healing (PMID:28005267)

Cross-species orthologs

0 orthologs

Paralogs (47): KRTAP4-4 (ENSG00000171396), KRTAP9-7 (ENSG00000180386), 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), KRTAP4-7 (ENSG00000240871)

Protein

Protein identifiers

Keratin-associated protein 5-5 — Q701N2 (reviewed: Q701N2)

Alternative names: Keratin-associated protein 5-11, Keratin-associated protein 5.11, Keratin-associated protein 5.5, Ultrahigh sulfur keratin-associated protein 5.5

All UniProt accessions (1): Q701N2

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. Restricted to hair root, not detected in any other tissues.

Similarity. Belongs to the KRTAP type 5 family.

RefSeq proteins (1): NP_001001480* (*=MANE)

Domains & families (InterPro)

UniProt features (17 total): repeat 8, sequence conflict 7, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q701N2-F1	42.11	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: 20 (showing top): chr11q13, HFH1_01, 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, ZWANG_EGF_INTERVAL_UP, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, ZNF2_TARGET_GENES, ZNF30_TARGET_GENES, MIR153_5P, MIR218_5P, MIR4768_3P

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

322 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP5-5	KRTAP5-7	Q6L8G8	665
KRTAP5-5	KRTAP5-1	Q6L8H4	571
KRTAP5-5	OR2G3	Q8NGZ4	544
KRTAP5-5	KRTAP19-8	Q3LI54	506
KRTAP5-5	KRTAP6-1	Q3LI64	505
KRTAP5-5	OR1N1	Q8NGS0	480
KRTAP5-5	A0A3B3IRQ3	A0A3B3IRQ3	480
KRTAP5-5	OR2G2	Q8NGZ5	479
KRTAP5-5	A8MUN0	A8MUN0	447
KRTAP5-5	OR14A16	Q8NHC5	447
KRTAP5-5	OR56A3	Q8NH54	446
KRTAP5-5	OR8B12	Q8NGG6	432
KRTAP5-5	OR5M10	Q6IEU7	432
KRTAP5-5	KRTAP22-1	Q3MIV0	418
KRTAP5-5	OR11L1	Q8NGX0	418

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A286YEV6, A0A286YEX9, A0A286YEY9, A0A286YF01, A0A286YF46, A0A286YF60, A0A286YF77, A0A286YFB4, A0A286YFG1, O08884, O14633, P04459, P05687, P05688, P08131, P08175, P0DSO2, P20730, P23490, Q01642, Q01643, Q01644, Q01645, Q07627, Q3LI58, Q3LI59, Q3V2C1, Q5T754, Q5TA78, Q5TA79, Q5TA81, Q5TA82, Q5TCM9, Q701N2, Q8IUG1, Q925H4, Q9BQ66, Q9BYP8, Q9BYQ5, Q9BYQ6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	11
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

972 predictions. Top by Δscore:

Variant	Effect	Δscore
11:71601415:C:CA	donor_gain	0.9900
11:71602180:T:TA	donor_gain	0.9900
11:71602181:C:A	donor_gain	0.9900
11:71601467:A:AC	donor_gain	0.9700
11:71602530:A:AC	donor_gain	0.9700
11:71582643:C:CA	donor_gain	0.9600
11:1630100:G:GT	donor_gain	0.9500
11:71601446:T:TA	donor_gain	0.9300
11:71582670:G:C	donor_gain	0.9200
11:1630151:TGTCC:T	donor_gain	0.9100
11:71582377:CA:C	donor_gain	0.9100
11:71602576:T:TA	donor_gain	0.9100
11:1630133:GC:G	donor_gain	0.9000
11:71582639:AGCCC:A	donor_gain	0.9000
11:71595173:C:G	acceptor_gain	0.8900
11:71582814:T:TA	donor_gain	0.8800
11:71582811:G:GA	donor_gain	0.8700
11:71602561:C:CA	donor_gain	0.8700
11:1629929:G:GT	donor_gain	0.8500
11:1630010:G:T	donor_gain	0.8400
11:71589795:CAAAG:C	acceptor_gain	0.8400
11:1630159:G:GT	donor_gain	0.8200
11:71589799:G:GC	acceptor_gain	0.8200
11:71599374:G:GC	acceptor_gain	0.8200
11:71602107:C:A	donor_gain	0.8100
11:1629863:G:GT	donor_gain	0.8000
11:1630089:C:G	donor_gain	0.8000
11:71601394:A:AC	donor_gain	0.7900
11:71602177:ACATC:A	donor_gain	0.7900
11:71602178:CATCC:C	donor_gain	0.7900

AlphaMissense

1519 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:1630050:G:C	K70N	0.693
11:1630050:G:T	K70N	0.693
11:1630516:A:C	S226R	0.692
11:1630518:C:A	S226R	0.692
11:1630518:C:G	S226R	0.692
11:1630399:A:C	S187R	0.672
11:1630401:C:A	S187R	0.672
11:1630401:C:G	S187R	0.672
11:1630548:G:C	K236N	0.653
11:1630548:G:T	K236N	0.653
11:1630369:A:C	S177R	0.652
11:1630371:C:A	S177R	0.652
11:1630371:C:G	S177R	0.652
11:1630218:G:C	K126N	0.612
11:1630218:G:T	K126N	0.612
11:1630312:A:C	S158R	0.610
11:1630314:C:A	S158R	0.610
11:1630314:C:G	S158R	0.610
11:1630429:A:C	S197R	0.606
11:1630431:C:A	S197R	0.606
11:1630431:C:G	S197R	0.606
11:1630248:G:C	K136N	0.602
11:1630248:G:T	K136N	0.602
11:1630188:G:C	K116N	0.587
11:1630188:G:T	K116N	0.587
11:1630550:T:G	I237S	0.585
11:1630550:T:C	I237T	0.583
11:1630323:G:C	K161N	0.569
11:1630323:G:T	K161N	0.569

dbSNP variants (sampled 300 via entrez): RS1000436437 (11:1629746 A>G), RS1001598127 (11:1629245 A>G), RS1001872812 (11:1630869 G>A,T), RS1001938096 (11:1629465 A>G), RS1002520378 (11:1628422 G>A), RS1003006206 (11:1628257 C>T), RS1003138369 (11:1628626 C>G), RS1004058096 (11:1627915 G>A), RS1004738737 (11:1628362 G>A,T), RS1006220835 (11:1631421 C>A,T), RS1008183753 (11:1628714 G>T), RS1008395655 (11:1628258 G>A,C), RS1010293995 (11:1629681 T>A,C,G), RS1010320855 (11:1627539 CT>C), RS1011302019 (11:1628591 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	decreases expression, affects cotreatment	1
Benzo(a)pyrene	affects methylation	1
Endosulfan	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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