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

Gene ID: 29943, updated on 8-May-2016
Official Symbol
PADI1provided by HGNC
Official Full Name
peptidyl arginine deiminase 1provided by HGNC
Primary source
HGNC:HGNC:18367
See related
Ensembl:ENSG00000142623 HPRD:06395; MIM:607934; Vega:OTTHUMG00000002294
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]
Orthologs
Location:
1p36.13
Exon count:
19
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (17205123..17246006)
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 peptidyl arginine deiminase 2 Neighboring gene uncharacterized LOC105376807 Neighboring gene uncharacterized LOC105376808 Neighboring gene peptidyl arginine deiminase 3 Neighboring gene microRNA 3972 Neighboring gene peptidyl arginine deiminase 4

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • protein citrullination, organism-specific biosystem (from BIOCYC)
    protein citrullination, organism-specific biosystemGeneral Background : L-CITRULLINE is a non-standard amino acid that is not normally present in proteins. The term citrulline was coined in 1930 from Citrullus, the Latin name of the watermelon, fro...
  • protein citrullination, conserved biosystem (from BIOCYC)
    protein citrullination, conserved biosystemGeneral Background |FRAME: L-CITRULLINE| is a non-standard amino acid that is not normally present in proteins. The term citrulline was coined in 1930 from |FRAME:TAX-3653|, the Latin name of the w...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein-arginine deiminase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
chromatin organization TAS
Traceable Author Statement
more info
 
protein citrullination IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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

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_013358.2NP_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, OTTHUMP00000002401, ENST00000375471, OTTHUMT00000006621
    Conserved Domains (3) summary
    pfam08527
    Location:115273
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    pfam03068
    Location:276663
    PAD; Protein-arginine deiminase (PAD)
    cd04214
    Location:7114
    PAD_N; N-terminal non-catalytic domain of protein-arginine deiminase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    17205123..17246006
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541306.1XP_011539608.1  

    See identical proteins and their annotated locations for XP_011539608.1

    Conserved Domains (3) summary
    pfam08527
    Location:115273
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    pfam03068
    Location:276441
    PAD; Protein-arginine deiminase (PAD)
    cd04214
    Location:7114
    PAD_N; N-terminal non-catalytic domain of protein-arginine deiminase
  2. XM_011541305.1XP_011539607.1  

    See identical proteins and their annotated locations for XP_011539607.1

    Conserved Domains (3) summary
    pfam08527
    Location:115273
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    pfam03068
    Location:276518
    PAD; Protein-arginine deiminase (PAD)
    cd04214
    Location:7114
    PAD_N; N-terminal non-catalytic domain of protein-arginine deiminase
  3. XM_011541307.1XP_011539609.1  

    See identical proteins and their annotated locations for XP_011539609.1

    Conserved Domains (3) summary
    pfam08527
    Location:115273
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    pfam03068
    Location:276441
    PAD; Protein-arginine deiminase (PAD)
    cd04214
    Location:7114
    PAD_N; N-terminal non-catalytic domain of protein-arginine deiminase

RNA

  1. XR_946617.1 RNA Sequence

  2. XR_946620.1 RNA Sequence

  3. XR_946618.1 RNA Sequence

  4. XR_946619.1 RNA Sequence

Reference GRCh38.p2 PATCHES

Genomic

  1. NW_011332688.1 Reference GRCh38.p2 PATCHES

    Range
    47637..88520
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011548846.1XP_011547148.1  

    See identical proteins and their annotated locations for XP_011547148.1

    Conserved Domains (3) summary
    pfam08527
    Location:115273
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    pfam03068
    Location:276441
    PAD; Protein-arginine deiminase (PAD)
    cd04214
    Location:7114
    PAD_N; N-terminal non-catalytic domain of protein-arginine deiminase
  2. XM_011548845.1XP_011547147.1  

    See identical proteins and their annotated locations for XP_011547147.1

    Conserved Domains (3) summary
    pfam08527
    Location:115273
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    pfam03068
    Location:276518
    PAD; Protein-arginine deiminase (PAD)
    cd04214
    Location:7114
    PAD_N; N-terminal non-catalytic domain of protein-arginine deiminase
  3. XM_011548847.1XP_011547149.1  

    See identical proteins and their annotated locations for XP_011547149.1

    Conserved Domains (3) summary
    pfam08527
    Location:115273
    PAD_M; Protein-arginine deiminase (PAD) middle domain
    pfam03068
    Location:276441
    PAD; Protein-arginine deiminase (PAD)
    cd04214
    Location:7114
    PAD_N; N-terminal non-catalytic domain of protein-arginine deiminase

RNA

  1. XR_953235.1 RNA Sequence

  2. XR_953238.1 RNA Sequence

  3. XR_953236.1 RNA Sequence

  4. XR_953237.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    17640028..17680932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)