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PADI1 peptidyl arginine deiminase 1 [ Homo sapiens (human) ]

Gene ID: 29943, updated on 1-Jun-2020

Summary

Official Symbol
PADI1provided by HGNC
Official Full Name
peptidyl arginine deiminase 1provided by HGNC
Primary source
HGNC:HGNC:18367
See related
Ensembl:ENSG00000142623 MIM:607934
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PDI; PAD1; PDI1; HPAD10
Summary
This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type I enzyme is involved in the late stages of epidermal differentiation, where it deiminates filaggrin and keratin K1, which maintains hydration of the stratum corneum, and hence the cutaneous barrier function. This enzyme may also play a role in hair follicle formation. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]
Expression
Biased expression in esophagus (RPKM 30.8) and skin (RPKM 4.2) See more
Orthologs

Genomic context

See PADI1 in Genome Data Viewer
Location:
1p36.13
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (17205125..17246007)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17531621..17572501)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376808 Neighboring gene long intergenic non-protein coding RNA 2783 Neighboring gene peptidyl arginine deiminase 3 Neighboring gene microRNA 3972 Neighboring gene peptidyl arginine deiminase 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
protein-arginine deiminase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein-arginine deiminase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chromatin organization TAS
Traceable Author Statement
more info
 
histone citrullination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein citrullination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
protein-arginine deiminase type-1
Names
hPAD-colony 10
peptidyl arginine deiminase, type I
peptidylarginine deiminase I
protein-arginine deiminase type I
NP_037490.2
XP_011539609.1
XP_016856590.1
XP_016856591.1
XP_016856592.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_013358.3NP_037490.2  protein-arginine deiminase type-1

    See identical proteins and their annotated locations for NP_037490.2

    Status: REVIEWED

    Source sequence(s)
    AL590644, BC130574
    Consensus CDS
    CCDS178.1
    UniProtKB/Swiss-Prot
    Q9ULC6
    Related
    ENSP00000364620.4, ENST00000375471.5
    Conserved Domains (3) summary
    pfam03068
    Location:284660
    PAD; Protein-arginine deiminase (PAD)
    pfam08526
    Location:1113
    PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
    pfam08527
    Location:115272
    PAD_M; Protein-arginine deiminase (PAD) middle domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    17205125..17246007
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001103.2XP_016856592.1  protein-arginine deiminase type-1 isoform X2

  2. XM_011541307.2XP_011539609.1  protein-arginine deiminase type-1 isoform X3

    See identical proteins and their annotated locations for XP_011539609.1

    Conserved Domains (3) summary
    pfam03068
    Location:284441
    PAD; Protein-arginine deiminase (PAD)
    pfam08526
    Location:1113
    PAD_N; Protein-arginine deiminase (PAD) N-terminal domain
    pfam08527
    Location:115272
    PAD_M; Protein-arginine deiminase (PAD) middle domain
  3. XM_017001102.1XP_016856591.1  protein-arginine deiminase type-1 isoform X1

  4. XM_017001101.1XP_016856590.1  protein-arginine deiminase type-1 isoform X1

RNA

  1. XR_001737130.2 RNA Sequence

  2. XR_001737131.2 RNA Sequence

  3. XR_946617.2 RNA Sequence

  4. XR_946620.2 RNA Sequence

  5. XR_946619.2 RNA Sequence

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332688.1 Reference GRCh38.p13 PATCHES

    Range
    47642..88521
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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