PPIAL4C (peptidylprolyl isomerase A like 4C) - Rat Genome Database

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Gene: PPIAL4C (peptidylprolyl isomerase A like 4C) Homo sapiens
Analyze
No known orthologs.
Symbol: PPIAL4C
Name: peptidylprolyl isomerase A like 4C
RGD ID: 2301492
HGNC Page HGNC:33995
Description: Predicted to enable cyclosporin A binding activity and peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in protein folding. Located in extracellular exosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: chromosome 1-amplified sequence 2; chromosome one-amplified sequence 2; COAS-2; cyclophilin homolog overexpressed in liver cancer; peptidyl-prolyl cis-trans isomerase A-like 4A/B/C; peptidylprolyl cis-trans isomerase A-like 4A/B/C; peptidylprolyl isomerase A (cyclophilin A)-like 4C; PPIAL4A; PPIAL4B; PPIase A-like 4A; PPIase A-like 4C
RGD Orthologs
Alliance Genes
More Info homologs ...
Related Pseudogenes: LOC100288703  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381149,583,848 - 149,584,607 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1149,583,848 - 149,584,607 (+)EnsemblGRCh38hg38GRCh38
GRCh371149,553,028 - 149,553,787 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361147,819,281 - 147,823,134 (+)NCBINCBI36Build 36hg18NCBI36
Celera546,864,841 - 46,879,784 (+)NCBICelera
Cytogenetic Map1q21.2NCBI
HuRef546,864,902 - 46,896,896 (+)NCBIHuRef
CHM1_11150,951,949 - 150,952,733 (+)NCBICHM1_1
T2T-CHM13v2.01148,707,993 - 148,708,752 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
protein folding  (IBA,IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:21873635   PMID:23533145   PMID:27432908   PMID:28514442   PMID:30021884   PMID:33961781   PMID:34373451  


Genomics


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]|See cases [RCV000050339] Chr1:149041013..149699420 [GRCh37]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1 copy number loss See cases [RCV000050340] Chr1:149041013..149699420 [GRCh37]
Chr1:147307637..147966044 [NCBI36]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2(chr1:149041013-149768855)x1 copy number loss See cases [RCV000133854] Chr1:149041013..149768855 [GRCh37]
Chr1:147307637..148035479 [NCBI36]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2(chr1:149091130-149699420)x1 copy number loss See cases [RCV000133822] Chr1:149091130..149699420 [GRCh37]
Chr1:147357754..147966044 [NCBI36]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3 copy number gain See cases [RCV000050339] Chr1:149041013..149699420 [GRCh37]
Chr1:147307637..147966044 [NCBI36]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2(chr1:149041023-149699396)x1 copy number loss See cases [RCV000136020] Chr1:149041023..149699396 [GRCh37]
Chr1:147307647..147966020 [NCBI36]
Chr1:1q21.2		 benign|likely benign|conflicting data from submitters
GRCh37/hg19 1q21.2(chr1:149041023-149768869)x1 copy number loss See cases [RCV000138911] Chr1:149041023..149768869 [GRCh37]
Chr1:147307647..148035493 [NCBI36]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x1 copy number loss See cases [RCV000148282] Chr1:149041013..149699420 [GRCh37]
Chr1:147307637..147966044 [NCBI36]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV000223957] Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3 copy number gain See cases [RCV000240518] Chr1:143500223..149763815 [GRCh37]
Chr1:1q21.1-21.2		 pathogenic
GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3 copy number gain See cases [RCV000447109] Chr1:143753740..151399970 [GRCh37]
Chr1:1q21.1-21.3		 pathogenic
GRCh37/hg19 1q21.2(chr1:149223984-149763756)x3 copy number gain See cases [RCV000446905] Chr1:149223984..149763756 [GRCh37]
Chr1:1q21.2		 likely benign
GRCh37/hg19 1q21.2(chr1:148004766-149754410)x3 copy number gain See cases [RCV000447369] Chr1:148004766..149754410 [GRCh37]
Chr1:1q21.2		 benign
GRCh37/hg19 1q21.2(chr1:148940709-149763756)x1 copy number loss See cases [RCV000447878] Chr1:148940709..149763756 [GRCh37]
Chr1:1q21.2		 benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.1-21.2(chr1:143932350-149801420)x3 copy number gain See cases [RCV000511264] Chr1:143932350..149801420 [GRCh37]
Chr1:1q21.1-21.2		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1q21.2(chr1:148514178-149758028)x3 copy number gain See cases [RCV002285071] Chr1:148514178..149758028 [GRCh37]
Chr1:1q21.2		 uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44		 uncertain significance
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 copy number gain Chromosome 1q21.1 duplication syndrome [RCV003329522] Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 copy number gain not specified [RCV003986717] Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 copy number gain not specified [RCV003987261] Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:143
Count of miRNA genes:136
Interacting mature miRNAs:137
Transcripts:ENST00000369222
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
PMC262691P6  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map1q21.1UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 46 5 2 118 5 48 19 32 19 58 62 1 1
Low 102 50 42 18 278 19 207 35 351 21 52 167 7 2 5 1
Below cutoff 725 922 515 110 609 66 1076 486 1963 46 321 451 44 355 701 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000585245   ⟹   ENSP00000463057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1149,583,848 - 149,584,607 (+)Ensembl
RefSeq Acc Id: NM_001135789   ⟹   NP_001129261
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381149,583,848 - 149,584,607 (+)NCBI
GRCh371149,553,003 - 149,553,787 (+)RGD
CHM1_11150,951,949 - 150,952,733 (+)NCBI
T2T-CHM13v2.01148,707,993 - 148,708,752 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001129261 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A0A0B4J2A2 (Get FASTA)   NCBI Sequence Viewer  
  AAI30377 (Get FASTA)   NCBI Sequence Viewer  
  AAI30379 (Get FASTA)   NCBI Sequence Viewer  
  CAH71953 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000463057
  ENSP00000463057.2
GenBank Protein Q9Y536 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001129261   ⟸   NM_001135789
- UniProtKB: A1L431 (UniProtKB/Swiss-Prot),   A2BFH1 (UniProtKB/Swiss-Prot),   A0A0B4J2A2 (UniProtKB/TrEMBL),   A0A0H2UH34 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000463057   ⟸   ENST00000585245
Protein Domains
PPIase cyclophilin-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0B4J2A2-F1-model_v2 AlphaFold A0A0B4J2A2 1-164 view protein structure
AF-Q9Y536-F1-model_v2 AlphaFold Q9Y536 1-164 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33995 AgrOrtholog
COSMIC PPIAL4C COSMIC
Ensembl Genes ENSG00000263464 Ensembl
  ENSG00000288867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000585245 ENTREZGENE
  ENST00000585245.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.100.10 UniProtKB/Swiss-Prot
GTEx ENSG00000263464 GTEx
  ENSG00000288867 GTEx
HGNC ID HGNC:33995 ENTREZGENE
Human Proteome Map PPIAL4C Human Proteome Map
InterPro Cyclophilin-like_dom_sf UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_CS UniProtKB/Swiss-Prot
  Cyclophilin-type_PPIase_dom UniProtKB/Swiss-Prot
KEGG Report hsa:653598 UniProtKB/Swiss-Prot
NCBI Gene 653598 ENTREZGENE
PANTHER PEPTIDYL-PROLYL CIS-TRANS ISOMERASE UniProtKB/Swiss-Prot
  PEPTIDYL-PROLYL CIS-TRANS ISOMERASE A-LIKE 4C-RELATED UniProtKB/Swiss-Prot
Pfam Pro_isomerase UniProtKB/Swiss-Prot
PharmGKB PA164724917 PharmGKB
PIRSF Peptidylpro_ismrse UniProtKB/Swiss-Prot
PRINTS CSAPPISMRASE UniProtKB/Swiss-Prot
PROSITE CSA_PPIASE_1 UniProtKB/Swiss-Prot
  CSA_PPIASE_2 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50891 UniProtKB/Swiss-Prot
UniProt A0A0B4J2A2 ENTREZGENE
  A0A0H2UH34 ENTREZGENE
  A1L431 ENTREZGENE
  A2BFH1 ENTREZGENE
  PAL4C_HUMAN UniProtKB/Swiss-Prot
  Q9Y536 ENTREZGENE
UniProt Secondary A1L431 UniProtKB/Swiss-Prot
  A2BFH1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 PPIAL4C  peptidylprolyl isomerase A like 4C    peptidylprolyl isomerase A (cyclophilin A)-like 4C  Symbol and/or name change 5135510 APPROVED