KRTAP29-1

Summary

KRTAP29-1 (keratin associated like protein 29-1, HGNC:34211) is a protein-coding gene on chromosome 17q21.2, encoding Keratin-associated protein 29-1 (A8MX34).

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

Source: NCBI Gene 100533177 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001257309

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34211
Approved symbol	KRTAP29-1
Name	keratin associated like protein 29-1
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Aliases	KAP29.2
Ensembl gene	ENSG00000212658
Ensembl biotype	protein_coding
Entrez	100533177

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000391353

RefSeq mRNA: 1 — MANE Select: NM_001257309 NM_001257309

CCDS: CCDS62183

Canonical transcript exons

ENST00000391353 — 1 exons

Exon	Start	End
ENSE00001491908	41301826	41302851

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 91.91.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.91	gold quality
granulocyte	CL:0000094	53.02	gold quality
lymph node	UBERON:0000029	44.73	gold quality
tonsil	UBERON:0002372	40.91	gold quality
bone marrow cell	CL:0002092	38.57	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
vermiform appendix	UBERON:0001154	36.47	silver quality
cortical plate	UBERON:0005343	36.47	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
bone marrow	UBERON:0002371	35.48	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
placenta	UBERON:0001987	32.64	gold quality
monocyte	CL:0000576	32.56	gold quality
skin of abdomen	UBERON:0001416	32.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	31.68	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
zone of skin	UBERON:0000014	30.54	gold quality
urinary bladder	UBERON:0001255	30.18	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
skin of leg	UBERON:0001511	29.22	gold quality
prefrontal cortex	UBERON:0000451	29.04	gold quality
spleen	UBERON:0002106	28.89	gold quality
gall bladder	UBERON:0002110	28.86	gold quality
cortex of kidney	UBERON:0001225	28.57	gold quality
liver	UBERON:0002107	28.30	gold quality
duodenum	UBERON:0002114	28.14	gold quality
primary visual cortex	UBERON:0002436	24.61	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.10

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Gm10153	ENSMUSG00000066101
mus_musculus	Krtap29-1	ENSMUSG00000078254
rattus_norvegicus	Krtap29-1	ENSRNOG00000067188

Protein

Protein identifiers

Keratin-associated protein 29-1 — A8MX34 (reviewed: A8MX34)

Alternative names: Keratin-associated protein 29.2

All UniProt accessions (1): A8MX34

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the KRTAP type 10 family.

RefSeq proteins (1): NP_001244238* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002494	KAP	Family
IPR007659	Keratin_matx	Family

Pfam: PF13885

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-A8MX34-F1	47.06	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: 11 (showing top): GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, GOCC_SUPRAMOLECULAR_COMPLEX, GOCC_POLYMERIC_CYTOSKELETAL_FIBER, REACTOME_KERATINIZATION, GOCC_SUPRAMOLECULAR_POLYMER, MANNE_COVID19_NONICU_VS_HEALTHY_DONOR_PLATELETS_DN, MANNE_COVID19_ICU_VS_HEALTHY_DONOR_PLATELETS_DN, MANNE_COVID19_COMBINED_COHORT_VS_HEALTHY_DONOR_PLATELETS_DN, chr17q21

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

58 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRTAP29-1	ACTR5	Q9H9F9	102
KRTAP29-1	K7ENP7	K7ENP7	99
KRTAP29-1	INO80C	Q6PI98	99
KRTAP29-1	KRTAP24-1	Q3LI83	91
KRTAP29-1	RUVBL1	P82276	90
KRTAP29-1	RUVBL2	Q9Y230	90
KRTAP29-1	ACTR8	Q9H981	66
KRTAP29-1	KRTAP11-1	Q8IUC1	62
KRTAP29-1	KRTAP8-1	Q8IUC2	45
KRTAP29-1	TAS2R5	Q9NYW4	0
KRTAP29-1	FBXW12	Q6X9E4	0
KRTAP29-1	NAT16	Q8N8M0	0
KRTAP29-1	WDR97	A6NE52	0
KRTAP29-1	KRTAP17-1	Q9BYP8	0
KRTAP29-1	KRTAP26-1	Q6PEX3	0
KRTAP29-1	KIAA1586	Q9HCI6	0
KRTAP29-1	KRTAP9-2	Q9BYQ4	0
KRTAP29-1	KRTAP27-1	Q3LI81	0
KRTAP29-1	KRTAP16-1	A8MUX0	0
KRTAP29-1	TEX13C	A0A0J9YWL9	0

IntAct

0 interactions, top by confidence:

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: A2A5X4, A8MX34, A2A5X5, A8MUX0

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

419 predictions. Top by Δscore:

Variant	Effect	Δscore
17:41301999:CAGTG:C	donor_gain	0.7800
17:41302080:A:C	acceptor_gain	0.7800
17:41302062:CTGG:C	acceptor_gain	0.7600
17:41302079:CA:C	acceptor_gain	0.7600
17:41302082:G:C	acceptor_gain	0.7500
17:41302080:A:AC	acceptor_gain	0.7400
17:41302288:T:TA	donor_gain	0.7400
17:41302367:T:TA	donor_gain	0.7000
17:41301973:A:AC	donor_gain	0.6900
17:41302032:T:C	acceptor_gain	0.6800
17:41302159:A:AC	donor_gain	0.6800
17:41302160:C:CC	donor_gain	0.6800
17:41302082:G:GC	acceptor_gain	0.6700
17:41302032:T:TC	acceptor_gain	0.6600
17:41302319:G:C	donor_gain	0.6600
17:41301991:A:T	acceptor_gain	0.6500
17:41302211:T:C	acceptor_gain	0.6500
17:41302265:CCA:C	donor_gain	0.6500
17:41302160:CAAGT:C	donor_gain	0.6400
17:41301916:TAA:T	donor_gain	0.6300
17:41301917:AAA:A	donor_gain	0.6300
17:41302155:A:C	donor_gain	0.6300
17:41301995:A:C	donor_gain	0.6200
17:41302499:T:A	donor_gain	0.6200
17:41301860:CAG:C	donor_gain	0.6000
17:41302034:G:C	acceptor_gain	0.6000
17:41301950:CT:C	acceptor_gain	0.5900
17:41302094:A:T	acceptor_gain	0.5900
17:41302250:CAGGG:C	donor_gain	0.5800
17:41301860:CA:C	donor_gain	0.5700

AlphaMissense

2210 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:41302612:A:C	F80L	0.888
17:41302612:A:T	F80L	0.888
17:41302614:A:G	F80L	0.888
17:41302723:C:A	W43C	0.877
17:41302723:C:G	W43C	0.877
17:41302725:A:G	W43R	0.837
17:41302725:A:T	W43R	0.837
17:41302768:A:C	F28L	0.711
17:41302768:A:T	F28L	0.711
17:41302770:A:G	F28L	0.711
17:41302744:A:C	S36R	0.695
17:41302744:A:T	S36R	0.695
17:41302746:T:G	S36R	0.695
17:41302613:A:C	F80C	0.676
17:41302751:A:G	L34S	0.664
17:41302075:G:C	F259L	0.650
17:41302075:G:T	F259L	0.650
17:41302077:A:G	F259L	0.650
17:41302724:C:G	W43S	0.637
17:41302153:G:C	F233L	0.606
17:41302153:G:T	F233L	0.606
17:41302155:A:G	F233L	0.606
17:41302613:A:G	F80S	0.604
17:41302724:C:A	W43L	0.565

dbSNP variants (sampled 300 via entrez): RS1000148866 (17:41302176 A>G,T), RS1000200182 (17:41301579 A>T), RS1000888302 (17:41303085 C>T), RS1001191 (17:41302224 A>C,T), RS1001215983 (17:41303034 T>G), RS1003744353 (17:41302621 A>C,G), RS1004542521 (17:41303015 T>C), RS1005196 (17:41302915 G>A,C,T), RS1005197 (17:41302513 A>G,T), RS1005335849 (17:41301882 G>T), RS1007014746 (17:41303607 T>C), RS1007061712 (17:41303881 C>A,T), RS1008064692 (17:41303899 G>A), RS1008095684 (17:41303651 ATTGGTTCC>A), RS1009391476 (17:41304658 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.