KRTAP9-7

Summary

KRTAP9-7 (keratin associated protein 9-7, HGNC:18915) is a protein-coding gene on chromosome 17q21.2, encoding Keratin-associated protein 9-7 (A8MTY7). 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 be located in cytosol.

Source: NCBI Gene 100505724 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001277332

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18915
Approved symbol	KRTAP9-7
Name	keratin associated protein 9-7
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KAP9.7
Ensembl gene	ENSG00000180386
Ensembl biotype	protein_coding
Entrez	100505724

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000391354

RefSeq mRNA: 1 — MANE Select: NM_001277332 NM_001277332

CCDS: CCDS59287

Canonical transcript exons

ENST00000391354 — 1 exons

Exon	Start	End
ENSE00001509136	41275698	41276207

Expression profiles

Bgee: expression breadth tissue_specific, 7 present calls, max score 37.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	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	33.38	gold quality
skin of abdomen	UBERON:0001416	33.13	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
zone of skin	UBERON:0000014	30.91	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
skin of leg	UBERON:0001511	29.47	gold quality
liver	UBERON:0002107	29.19	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
tonsil	UBERON:0002372	27.05	gold quality
leukocyte	CL:0000738	26.93	gold quality
monocyte	CL:0000576	26.86	gold quality
urinary bladder	UBERON:0001255	26.75	gold quality
blood	UBERON:0000178	26.59	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
right lung	UBERON:0002167	26.25	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
muscle of leg	UBERON:0001383	25.75	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

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

Protein

Protein identifiers

Keratin-associated protein 9-7 — A8MTY7 (reviewed: A8MTY7)

Alternative names: Keratin-associated protein 9-like 1

All UniProt accessions (1): A8MTY7

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 KRTAP type 9 family.

RefSeq proteins (1): NP_001264261* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family

Pfam: PF13885

UniProt features (21 total): repeat 17, sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MTY7-F1	38.10	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: 7 (showing top): GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, chr17q21

GO Biological Process (0):

GO Molecular Function (0):

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

Protein interactions and networks

STRING

164 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP9-7	OR1E2	P47887	641
KRTAP9-7	OR1D5	P58170	620
KRTAP9-7	OR3A2	P47893	601
KRTAP9-7	OR3A1	P47881	595
KRTAP9-7	KRTAP17-1	Q9BYP8	580
KRTAP9-7	TMEM95	Q3KNT9	578
KRTAP9-7	C17orf50	Q8WW18	545
KRTAP9-7	OR1A2	Q9Y585	544
KRTAP9-7	TMEM220	Q6QAJ8	542
KRTAP9-7	TBC1D3K	A0A087X1G2	526
KRTAP9-7	KRTAP2-3	P0C7H8	507
KRTAP9-7	CDRT15L2	A8MXV6	505
KRTAP9-7	TMEM92	Q6UXU6	478
KRTAP9-7	TBC1D3H	P0C7X1	447
KRTAP9-7	CFAP97D1	B2RV13	446

IntAct

0 interactions, top by confidence:

BioGRID (1): KRTAP9-7 (Affinity Capture-MS)

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: A8MTY7, Q9BYP9, Q9BYQ0, Q9BYQ2, Q9BYQ3, A5A6P5, Q9BYQ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

81 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41276034:A:T	donor_gain	0.7400
17:41275954:G:GG	donor_gain	0.6600
17:41275871:G:GT	donor_gain	0.6400
17:41275981:GCT:G	donor_gain	0.6000
17:41275754:G:GT	donor_gain	0.5900
17:41275982:C:G	donor_gain	0.5900
17:41275951:GCT:G	donor_gain	0.5800
17:41276033:G:GT	donor_gain	0.5600
17:41276135:GAC:G	donor_gain	0.5500
17:41275904:C:G	donor_gain	0.5400
17:41275953:T:TG	donor_gain	0.5400
17:41275957:G:A	donor_gain	0.5300
17:41276150:G:GT	donor_gain	0.5100
17:41275987:G:A	donor_gain	0.4800
17:41275983:T:G	donor_gain	0.4500
17:41275984:G:GG	donor_gain	0.4500
17:41275813:T:A	donor_gain	0.4100
17:41276131:G:GG	donor_gain	0.3900
17:41275900:C:G	donor_gain	0.3800
17:41276072:T:TA	donor_gain	0.3800
17:41275956:G:A	donor_gain	0.3700
17:41275959:T:TA	donor_gain	0.3700
17:41276128:GCT:G	donor_gain	0.3700
17:41276136:A:T	donor_gain	0.3500
17:41276130:T:G	donor_gain	0.3400
17:41275960:C:A	donor_gain	0.3300
17:41275964:C:G	donor_gain	0.3300
17:41275725:CA:C	acceptor_gain	0.3200
17:41276031:A:AG	acceptor_gain	0.3200
17:41276032:G:GG	acceptor_gain	0.3200

AlphaMissense

1121 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41275818:A:C	S41R	0.566
17:41275820:C:A	S41R	0.566
17:41275820:C:G	S41R	0.566
17:41276160:T:C	F155L	0.565
17:41276162:C:A	F155L	0.565
17:41276162:C:G	F155L	0.565

dbSNP variants (sampled 300 via entrez): RS1000046484 (17:41263746 A>T), RS1000160520 (17:41264107 G>A,C), RS1000519494 (17:41265319 G>A,T), RS1001205807 (17:41264605 CAAGCAGT>C), RS1005316406 (17:41263613 G>A), RS1007168334 (17:41264587 A>C,G), RS1008665548 (17:41275973 C>A,T), RS1009173548 (17:41274942 A>C), RS1009262747 (17:41274444 T>C), RS1012135487 (17:41264202 C>G,T), RS1013234436 (17:41265065 T>C), RS1013316628 (17:41263649 C>A), RS1013704250 (17:41264847 G>C), RS1016698116 (17:41264256 A>C,G), RS1016856685 (17:41264742 C>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

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cadmium	decreases expression, increases abundance	1
Smoke	increases expression	1
Cadmium Chloride	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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