KRTAP16-1

Summary

KRTAP16-1 (keratin associated protein 16-1, HGNC:18916) is a protein-coding gene on chromosome 17q21.2, encoding Keratin-associated protein 16-1 (A8MUX0).

Predicted to enable structural molecule activity. Predicted to be located in cytosol.

Source: NCBI Gene 100505753 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_001146182

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18916
Approved symbol	KRTAP16-1
Name	keratin associated protein 16-1
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KAP16.1
Ensembl gene	ENSG00000212657
Ensembl biotype	protein_coding
Entrez	100505753

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000391352

RefSeq mRNA: 1 — MANE Select: NM_001146182 NM_001146182

CCDS: CCDS56032

Canonical transcript exons

ENST00000391352 — 1 exons

Exon	Start	End
ENSE00001509135	41307700	41309309

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 62.11.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0468 / max 29.6677, expressed in 14 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
165885	0.0468	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	62.11	gold quality
bone marrow	UBERON:0002371	54.48	gold quality
bone marrow cell	CL:0002092	50.32	gold quality
lymph node	UBERON:0000029	42.01	silver quality
skin of abdomen	UBERON:0001416	37.88	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
tonsil	UBERON:0002372	36.58	silver quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
zone of skin	UBERON:0000014	36.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	35.70	gold quality
sural nerve	UBERON:0015488	35.64	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skin of leg	UBERON:0001511	35.45	gold quality
skeletal muscle tissue	UBERON:0001134	34.79	gold quality
leukocyte	CL:0000738	33.23	silver quality
vermiform appendix	UBERON:0001154	32.34	gold quality
prefrontal cortex	UBERON:0000451	32.22	gold quality
monocyte	CL:0000576	32.20	gold quality
muscle tissue	UBERON:0002385	32.09	gold quality
right lung	UBERON:0002167	31.99	gold quality
liver	UBERON:0002107	30.50	gold quality
frontal cortex	UBERON:0001870	29.90	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
cerebellum	UBERON:0002037	29.43	gold quality
placenta	UBERON:0001987	29.40	gold quality
cerebellar cortex	UBERON:0002129	29.29	gold quality
anterior cingulate cortex	UBERON:0009835	29.17	gold quality
right uterine tube	UBERON:0001302	29.13	gold quality
cerebellar hemisphere	UBERON:0002245	29.10	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.30

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krtap16-1	ENSMUSG00000078253
rattus_norvegicus	Krtap16-1	ENSRNOG00000070593

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), 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 16-1 — A8MUX0 (reviewed: A8MUX0)

All UniProt accessions (1): A8MUX0

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the KRTAP type 16 family.

RefSeq proteins (1): NP_001139654* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family
IPR007659	Keratin_matx	Family

Pfam: PF13885

UniProt features (15 total): repeat 11, region of interest 2, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MUX0-F1	42.47	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: 15 (showing top): GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, MARTENS_TRETINOIN_RESPONSE_UP, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, GLI1_TARGET_GENES, ZNF512_TARGET_GENES, BDP1_TARGET_GENES, BPTF_TARGET_GENES, GSE6259_33D1_POS_DC_VS_CD8_TCELL_DN, chr17q21, GSE40274_SATB1_VS_FOXP3_AND_SATB1_TRANSDUCED_ACTIVATED_CD4_TCELL_DN

GO Biological Process (0):

GO Molecular Function (1): structural molecule activity (GO:0005198)

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

Protein interactions and networks

STRING

390 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP16-1	KRTAP6-1	Q3LI64	591
KRTAP16-1	KRTAP20-1	Q3LI63	571
KRTAP16-1	KRTAP15-1	Q3LI76	543
KRTAP16-1	KRTAP19-1	Q8IUB9	542
KRTAP16-1	KRTAP6-2	Q3LI66	527
KRTAP16-1	KRTAP5-7	Q6L8G8	527
KRTAP16-1	KRTAP24-1	Q3LI83	506
KRTAP16-1	KRTAP13-1	Q8IUC0	505
KRTAP16-1	KRTAP3-2	Q9BYR7	480
KRTAP16-1	KRT34	O76011	479
KRTAP16-1	KRTAP7-1	Q8IUC3	471
KRTAP16-1	KRTAP3-3	Q9BYR6	447
KRTAP16-1	KRTAP8-1	Q8IUC2	445
KRTAP16-1	KRT83	P78385	423
KRTAP16-1	KRT73	Q86Y46	417

IntAct

0 interactions, top by confidence:

BioGRID (1): KRTAP16-1 (Affinity Capture-MS)

ESM2 similar proteins: A1A580, A2A591, A2A5X4, A2A5X5, A8MUX0, A8MX34, B2RUR4, O13152, O93499, O93500, P02444, P02445, P02446, P02447, P02449, P02450, P02451, P04458, P07521, P08335, P0DV60, P20307, P20308, P25692, P60329, Q24JX8, Q24JX9, Q3LI81, Q3LI83, Q4KL71, Q5T749, Q5T750, Q5TA77, Q6PEX3, Q6R648, Q6S343, Q7TQM5, Q8IUC1, Q92012, Q98U05

Diamond homologs: A2A5X5, A6QP35, A8MUX0, Q9BYR6, Q9D638, A2A5X4, A8MX34, Q3LI76, Q6R648, Q8IUC1, Q3LI83, Q4W7G7, Q4W7G8, Q4W7G9, Q9BYR7, A2A591, P02444, P02445, P02446, P02447, Q24JX8, Q24JX9, Q6S343, Q9BYR8, Q9D7P0, Q6PEX3, Q9D7N2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	95
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

359 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41309061:CAGGA:C	donor_gain	0.8700
17:41309060:A:AC	donor_gain	0.8600
17:41309061:C:CC	donor_gain	0.8600
17:41308174:ACTGC:A	acceptor_gain	0.8500
17:41308175:C:CC	acceptor_gain	0.8000
17:41308332:TA:T	acceptor_gain	0.7700
17:41308175:C:A	acceptor_gain	0.7400
17:41308170:CTGGA:C	acceptor_gain	0.7000
17:41307871:CCGTT:C	acceptor_gain	0.6400
17:41308220:T:TG	acceptor_gain	0.6400
17:41308334:C:CC	acceptor_gain	0.6400
17:41308880:A:AC	donor_gain	0.6400
17:41308881:C:CC	donor_gain	0.6400
17:41308221:C:CT	acceptor_gain	0.6300
17:41307872:CGTT:C	acceptor_gain	0.6000
17:41308127:GTCCT:G	acceptor_gain	0.5900
17:41308329:AGATA:A	acceptor_gain	0.5900
17:41308454:G:C	donor_gain	0.5900
17:41309053:GCTAC:G	donor_loss	0.5900
17:41309054:CTACT:C	donor_loss	0.5900
17:41309055:TACTC:T	donor_loss	0.5900
17:41309056:ACTCA:A	donor_loss	0.5900
17:41309057:CTCAC:C	donor_loss	0.5900
17:41309058:TC:T	donor_loss	0.5900
17:41309059:CACAG:C	donor_loss	0.5900
17:41309060:A:T	donor_loss	0.5900
17:41309061:C:CA	donor_loss	0.5900
17:41307872:C:T	acceptor_gain	0.5800
17:41308217:GGCT:G	acceptor_gain	0.5800
17:41309061:CAGG:C	donor_gain	0.5800

AlphaMissense

3350 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41309134:C:A	W40C	0.926
17:41309134:C:G	W40C	0.926
17:41309136:A:G	W40R	0.917
17:41309136:A:T	W40R	0.917
17:41308123:G:C	F377L	0.908
17:41308123:G:T	F377L	0.908
17:41308125:A:G	F377L	0.908
17:41309155:A:C	S33R	0.783
17:41309155:A:T	S33R	0.783
17:41309157:T:G	S33R	0.783
17:41309135:C:A	W40L	0.755
17:41309135:C:G	W40S	0.745
17:41308111:A:C	S381R	0.739
17:41308111:A:T	S381R	0.739
17:41308113:T:G	S381R	0.739
17:41307990:G:T	R422S	0.704
17:41308118:A:G	I379T	0.700
17:41307993:A:C	Y421D	0.693
17:41309136:A:C	W40G	0.668
17:41307951:G:T	R435S	0.648
17:41309159:G:T	P32H	0.645
17:41308118:A:T	I379K	0.643
17:41307989:C:G	R422P	0.623
17:41309132:T:G	Q41P	0.619
17:41307998:A:G	I419T	0.615
17:41307954:G:T	R434S	0.610
17:41308122:A:C	Y378D	0.606
17:41307975:G:T	R427S	0.605
17:41309168:A:T	I29N	0.592
17:41309168:A:G	I29T	0.588

dbSNP variants (sampled 300 via entrez): RS1000290427 (17:41307544 C>G), RS1000584608 (17:41309283 A>G), RS1000718512 (17:41309420 A>G), RS1002255273 (17:41310575 T>C), RS1002389512 (17:41311010 C>A,T), RS1003223704 (17:41308145 C>G,T), RS1004262969 (17:41309427 C>T), RS1004408062 (17:41310304 G>A), RS1004781502 (17:41310491 G>C), RS1005186732 (17:41307752 G>A,T), RS1005263737 (17:41310903 G>T), RS1007242952 (17:41309822 G>A), RS1008259986 (17:41308891 A>G), RS1008563197 (17:41309103 A>G), RS1010959548 (17:41311251 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)

Clinical trials (associated diseases)

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