PPIAL4H

Summary

PPIAL4H (peptidylprolyl isomerase A like 4H, HGNC:53889) is a protein-coding gene on chromosome 1q21.1, encoding Peptidyl-prolyl cis-trans isomerase A-like 4H (A0A075B767). PPIases accelerate the folding of proteins.

Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Predicted to be active in cytoplasm.

Source: NCBI Gene 105371242 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001368128

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53889
Approved symbol	PPIAL4H
Name	peptidylprolyl isomerase A like 4H
Location	1q21.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000270339
Ensembl biotype	protein_coding
Entrez	105371242

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000584068

RefSeq mRNA: 1 — MANE Select: NM_001368128 NM_001368128

CCDS: CCDS91036

Canonical transcript exons

ENST00000584068 — 1 exons

Exon	Start	End
ENSE00003926131	146344006	146344765

Expression profiles

Bgee: expression breadth broad, 76 present calls, max score 73.58.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	73.58	gold quality
cerebellar hemisphere	UBERON:0002245	62.76	gold quality
cerebellar cortex	UBERON:0002129	62.52	gold quality
cerebellum	UBERON:0002037	62.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	56.91	gold quality
nucleus accumbens	UBERON:0001882	56.68	gold quality
spleen	UBERON:0002106	56.16	gold quality
amygdala	UBERON:0001876	56.13	gold quality
anterior cingulate cortex	UBERON:0009835	55.83	gold quality
temporal lobe	UBERON:0001871	55.73	gold quality
mucosa of transverse colon	UBERON:0004991	55.67	gold quality
blood	UBERON:0000178	55.44	gold quality
putamen	UBERON:0001874	54.43	gold quality
caudate nucleus	UBERON:0001873	54.00	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	51.67	gold quality
hypothalamus	UBERON:0001898	51.54	gold quality
Brodmann (1909) area 9	UBERON:0013540	50.65	gold quality
Ammon’s horn	UBERON:0001954	50.47	gold quality
brain	UBERON:0000955	50.19	gold quality
primary visual cortex	UBERON:0002436	48.87	gold quality
cerebral cortex	UBERON:0000956	46.56	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	46.31	gold quality
right frontal lobe	UBERON:0002810	45.35	gold quality
substantia nigra	UBERON:0002038	44.54	gold quality
lower esophagus mucosa	UBERON:0035834	43.00	silver quality
colonic epithelium	UBERON:0000397	42.02	gold quality
mucosa of stomach	UBERON:0001199	41.42	silver quality
apex of heart	UBERON:0002098	41.41	silver quality
ventricular zone	UBERON:0003053	41.16	gold quality
superior frontal gyrus	UBERON:0002661	39.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.99

Regulation

Is transcription factor: no

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppifa	ENSDARG00000007409
danio_rerio	ppiaa	ENSDARG00000009212
danio_rerio	ppiab	ENSDARG00000103994
drosophila_melanogaster	Cyp40	FBGN0036020
drosophila_melanogaster	Moca-cyp	FBGN0039581
caenorhabditis_elegans		WBGENE00000877
caenorhabditis_elegans		WBGENE00000878
caenorhabditis_elegans		WBGENE00000879
caenorhabditis_elegans		WBGENE00000883
caenorhabditis_elegans		WBGENE00000885

Paralogs (22): PPIE (ENSG00000084072), PPIL2 (ENSG00000100023), PPIF (ENSG00000108179), PPWD1 (ENSG00000113593), NKTR (ENSG00000114857), PPIL4 (ENSG00000131013), PPIL1 (ENSG00000137168), PPIG (ENSG00000138398), CWC27 (ENSG00000153015), PPIB (ENSG00000166794), PPIC (ENSG00000168938), PPID (ENSG00000171497), PPIH (ENSG00000171960), PPIL6 (ENSG00000185250), PPIA (ENSG00000196262), PPIAL4G (ENSG00000236334), PPIL3 (ENSG00000240344), PPIAL4A (ENSG00000263353), PPIAL4E (ENSG00000271567), PPIAL4F (ENSG00000279782), PPIAL4C (ENSG00000288867), PPIAL4D (ENSG00000289549)

Protein

Protein identifiers

Peptidyl-prolyl cis-trans isomerase A-like 4H — A0A075B767 (reviewed: A0A075B767)

All UniProt accessions (1): A0A075B767

UniProt curated annotations — full annotation on UniProt →

Function. PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.

Subcellular location. Cytoplasm.

Miscellaneous. It is one of six related genes or pseudogenes found in a cluster, thought to result from gene duplication, on chromosome 1.

Similarity. Belongs to the cyclophilin-type PPIase family. PPIase A subfamily.

RefSeq proteins (1): NP_001355057* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002130	Cyclophilin-type_PPIase_dom	Domain
IPR020892	Cyclophilin-type_PPIase_CS	Conserved_site
IPR024936	Cyclophilin-type_PPIase	Family
IPR029000	Cyclophilin-like_dom_sf	Homologous_superfamily

Pfam: PF00160

Catalyzed reactions (Rhea), 1 shown:

• [protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0) (RHEA:16237)

UniProt features (4 total): glycosylation site 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A075B767-F1	95.22	0.91

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (2): 71, 108

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): GOBP_PROTEIN_MATURATION, GOBP_PROTEIN_FOLDING, chr1q21, GOMF_CIS_TRANS_ISOMERASE_ACTIVITY, GOMF_AMIDE_BINDING, GOMF_ISOMERASE_ACTIVITY, GOMF_CYCLOSPORIN_A_BINDING

GO Biological Process (2): protein folding (GO:0006457), protein peptidyl-prolyl isomerization (GO:0000413)

GO Molecular Function (3): peptidyl-prolyl cis-trans isomerase activity (GO:0003755), cyclosporin A binding (GO:0016018), isomerase activity (GO:0016853)

GO Cellular Component (1): cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	1
protein maturation	1
peptidyl-proline modification	1
cis-trans isomerase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1736 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPIAL4H	EEF1G	P26641	203
PPIAL4H	RPL19	P14118	166
PPIAL4H	PRDX6	P30041	166
PPIAL4H	GABBR1	Q9UBS5	166
PPIAL4H	GBF1	Q92538	163
PPIAL4H	ITPA	Q9BY32	161
PPIAL4H	PIN1	Q13526	158
PPIAL4H	ANAPC1	Q9H1A4	146
PPIAL4H	DICER1	Q9UPY3	136
PPIAL4H	ATG5	Q9H1Y0	135
PPIAL4H	CREB1	P16220	135
PPIAL4H	AIFM1	O95831	133
PPIAL4H	SUCLG1	P53597	130
PPIAL4H	HMBS	P08396	130
PPIAL4H	H6PD	O95479	129

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A075B759, A0A075B767, A0A0B4J2A2, F5H284, O00060, O43447, O74729, O94273, P0C1I0, P0C1I3, P0C1I5, P0C1I8, P0CP82, P0CP83, P0DN26, P0DN37, P17742, P23285, P24525, P25719, P52010, P52018, P62940, P84343, Q0P5D0, Q0ZQK7, Q0ZQK8, Q0ZQL0, Q0ZQL1, Q26516, Q26551, Q26565, Q27774, Q2TZ33, Q38867, Q38900, Q42406, Q4IPH4, Q4P6X6, Q4WCM6

Diamond homologs: A0A075B759, A0A075B767, A0A0B4J2A2, A0A0R0H9T5, A4FV72, D4AY02, F5H284, H2QII6, O00060, O49886, O93826, P0C1H7, P0C1H8, P0C1I2, P0C1I7, P0C1I8, P0C1I9, P0CP78, P0CP79, P0DN26, P0DN37, P10111, P10255, P14088, P14832, P14851, P17742, P18253, P21568, P21569, P22011, P24367, P24525, P25007, P25719, P29117, P30404, P30405, P34790, P34791

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

0 predictions. Top by Δscore:

AlphaMissense

1102 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:146344695:A:C	F7L	0.787
1:146344695:A:T	F7L	0.787
1:146344697:A:G	F7L	0.787
1:146344329:A:C	F129L	0.747
1:146344329:A:T	F129L	0.747
1:146344331:A:G	F129L	0.747
1:146344536:A:C	F60L	0.733
1:146344536:A:T	F60L	0.733
1:146344538:A:G	F60L	0.733
1:146344467:A:C	F83L	0.713
1:146344467:A:T	F83L	0.713
1:146344469:A:G	F83L	0.713
1:146344641:A:C	F25L	0.702
1:146344641:A:T	F25L	0.702
1:146344643:A:G	F25L	0.702
1:146344557:A:C	F53L	0.695
1:146344557:A:T	F53L	0.695
1:146344559:A:G	F53L	0.695
1:146344578:A:C	F46L	0.657
1:146344578:A:T	F46L	0.657
1:146344580:A:G	F46L	0.657
1:146344608:A:C	F36L	0.655
1:146344608:A:T	F36L	0.655
1:146344610:A:G	F36L	0.655
1:146344377:G:C	F113L	0.628
1:146344377:G:T	F113L	0.628
1:146344379:A:G	F113L	0.628
1:146344515:G:C	F67L	0.606
1:146344515:G:T	F67L	0.606
1:146344517:A:G	F67L	0.606

dbSNP variants (sampled 300 via entrez): RS1156310284 (1:146345137 G>A), RS1156379330 (1:146344673 T>A), RS1156438680 (1:146345962 A>C), RS1156635207 (1:146346748 G>C,T), RS1159058813 (1:146343701 A>G), RS1159314792 (1:146345558 C>T), RS1159478571 (1:146346492 CTTTTTTTTTTTT>C,CTTT,CTTTTTTT,CTTTTTTTT,CTTTTTTTTT,CTTTTTTTTTT,CTTTTTTTTTTT,CTTTTTTTTTTTTT,CTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTT,CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT), RS1159785311 (1:146344782 C>T), RS1159941308 (1:146345214 T>C), RS1159988328 (1:146345038 C>A,G,T), RS1160050485 (1:146344288 T>C), RS1160790661 (1:146343850 G>A), RS1160977606 (1:146346079 G>A), RS1161338740 (1:146345416 G>C), RS1161392668 (1:146344975 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)

Clinical trials (associated diseases)

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