PYDC5 (pyrin domain containing 5) - Rat Genome Database

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Gene: PYDC5 (pyrin domain containing 5) Homo sapiens
Analyze
Symbol: PYDC5
Name: pyrin domain containing 5
RGD ID: 13461834
HGNC Page HGNC:53781
Description: Involved in cellular response to interferon-beta; cellular response to virus; and negative regulation of AIM2 inflammasome complex assembly.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: POP3; pyrin domain-containing protein 5; pyrin domain-only protein 3
RGD Orthologs
Bonobo
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381158,999,971 - 159,002,751 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1158,999,971 - 159,002,751 (-)EnsemblGRCh38hg38GRCh38
GRCh371158,969,761 - 158,972,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1q23.1NCBI
CHM1_11160,363,823 - 160,364,164 (-)NCBICHM1_1
T2T-CHM13v2.01158,137,039 - 158,139,819 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

References
Additional References at PubMed
PMID:21873635   PMID:24531343  


Genomics

Comparative Map Data
PYDC5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381158,999,971 - 159,002,751 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1158,999,971 - 159,002,751 (-)EnsemblGRCh38hg38GRCh38
GRCh371158,969,761 - 158,972,541 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic Map1q23.1NCBI
CHM1_11160,363,823 - 160,364,164 (-)NCBICHM1_1
T2T-CHM13v2.01158,137,039 - 158,139,819 (-)NCBIT2T-CHM13v2.0
PYDC5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2190,851,233 - 90,851,574 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1190,588,430 - 90,588,775 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01134,354,730 - 134,355,243 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11138,152,329 - 138,152,685 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1138,152,329 - 138,152,670 (-)Ensemblpanpan1.1panPan2
PYDC5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_0236660384,089,177 - 4,092,295 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PYDC5
1 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2		 pathogenic
GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 copy number gain See cases [RCV000051854] Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1		 pathogenic

Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENST00000696987   ⟹   ENSP00000513023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1158,999,971 - 159,002,751 (-)Ensembl
RefSeq Acc Id: NM_001320010   ⟹   NP_001306939
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381158,999,971 - 159,002,751 (-)NCBI
CHM1_11160,363,823 - 160,364,164 (-)NCBI
T2T-CHM13v2.01158,137,039 - 158,139,819 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001306939 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AHI87498 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000513023
  ENSP00000513023.1
GenBank Protein W6CW81 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001306939   ⟸   NM_001320010
- UniProtKB: W6CW81 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000513023   ⟸   ENST00000696987
Protein Domains
Pyrin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-W6CW81-F1-model_v2 AlphaFold W6CW81 1-113 view protein structure


Additional Information

Database Acc Id Source(s)
COSMIC PYDC5 COSMIC
Ensembl Genes ENSG00000289721 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000696987 ENTREZGENE
  ENST00000696987.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.533.10 UniProtKB/Swiss-Prot
GTEx ENSG00000289721 GTEx
HGNC ID HGNC:53781 ENTREZGENE
Human Proteome Map PYDC5 Human Proteome Map
InterPro DAPIN UniProtKB/Swiss-Prot
  DEATH-like_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:107181291 UniProtKB/Swiss-Prot
NCBI Gene PYDC5 ENTREZGENE
PharmGKB PA166181613 PharmGKB
PROSITE DAPIN UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47986 UniProtKB/Swiss-Prot
UniProt PYDC5_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE