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PPWD1 peptidylprolyl isomerase domain and WD repeat containing 1 [ Homo sapiens (human) ]

Gene ID: 23398, updated on 12-Oct-2019

Summary

Official Symbol
PPWD1provided by HGNC
Official Full Name
peptidylprolyl isomerase domain and WD repeat containing 1provided by HGNC
Primary source
HGNC:HGNC:28954
See related
Ensembl:ENSG00000113593 MIM:618274
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in lymph node (RPKM 13.9), appendix (RPKM 11.8) and 25 other tissues See more
Orthologs

Genomic context

See PPWD1 in Genome Data Viewer
Location:
5q12.3
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (65563239..65587549)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (64859063..64883376)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 6 Neighboring gene ribosomal protein S2 pseudogene 23 Neighboring gene centromere protein K Neighboring gene RNA, U6 small nuclear 540, pseudogene Neighboring gene tripartite motif containing 23 Neighboring gene trafficking protein particle complex 13 Neighboring gene shieldin complex subunit 3

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

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystem (from REACTOME)
    Processing of Capped Intron-Containing Pre-mRNA, organism-specific biosystemCo-transcriptional pre-mRNA splicing is not obligatory. Pre-mRNA splicing begins co-transcriptionally and often continues post-transcriptionally. Human genes contain an average of nine introns per ge...
  • mRNA Splicing, organism-specific biosystem (from REACTOME)
    mRNA Splicing, organism-specific biosystemThe process in which excision of introns from the primary transcript of messenger RNA (mRNA) is followed by ligation of the two exon termini exposed by removal of each intron, is called mRNA splicing...
  • mRNA Splicing - Major Pathway, organism-specific biosystem (from REACTOME)
    mRNA Splicing - Major Pathway, organism-specific biosystemThe splicing of pre-mRNA occurs within a large, very dynamic complex, designated the 'spliceosome'. The 50-60S spliceosomes are estimated to be 40-60 nm in diameter, and have molecular weights in the...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ33156, FLJ36356, KIAA0073

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cyclosporin A binding IDA
Inferred from Direct Assay
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-prolyl cis-trans isomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
mRNA splicing, via spliceosome IC
Inferred by Curator
more info
PubMed 
mRNA splicing, via spliceosome TAS
Traceable Author Statement
more info
 
protein peptidyl-prolyl isomerization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein peptidyl-prolyl isomerization IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
catalytic step 2 spliceosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
peptidylprolyl isomerase domain and WD repeat-containing protein 1
Names
epididymis secretory sperm binding protein
spliceosome-associated cyclophilin
NP_001265855.1
NP_001265856.1
NP_001265858.1
NP_056157.1
XP_005248531.1
XP_006714646.1
XP_016864775.1

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_001278926.1NP_001265855.1  peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the 5' region and uses a downstream start codon, compared to variant 1. It encodes isoform 2 which is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC008560, AK300022, BC015385, DB454273
    Consensus CDS
    CCDS64161.1
    UniProtKB/Swiss-Prot
    Q96BP3
    UniProtKB/TrEMBL
    B4DT22, F5H7P7
    Related
    ENSP00000442371.1, ENST00000535264.5
    Conserved Domains (4) summary
    COG2319
    Location:59276
    WD40; WD40 repeat [General function prediction only]
    cd01927
    Location:465613
    cyclophilin_WD40; cyclophilin_WD40: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a WD40 domain. This group consists of several hypothetical and putative eukaryotic and bacterial proteins which have a cyclophilin domain and a WD40 domain. ...
    sd00039
    Location:106147
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:59288
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  2. NM_001278927.2NP_001265856.1  peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 3

    See identical proteins and their annotated locations for NP_001265856.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and uses a downstream start codon compared to variant 1. It encodes isoform 3 which is shorter and has a distinct N-terminus compared to isoform 1. Translation is predicted to
    Source sequence(s)
    AC008560, AK298175, BC015385, DB454273
    UniProtKB/Swiss-Prot
    Q96BP3
    UniProtKB/TrEMBL
    B4DP34
    Conserved Domains (4) summary
    COG2319
    Location:51189
    WD40; WD40 repeat [General function prediction only]
    cd01927
    Location:355503
    cyclophilin_WD40; cyclophilin_WD40: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a WD40 domain. This group consists of several hypothetical and putative eukaryotic and bacterial proteins which have a cyclophilin domain and a WD40 domain. ...
    sd00039
    Location:3981
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:53178
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. NM_001278929.1NP_001265858.1  peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001265858.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an exon in the 5' region and uses a downstream start codon, compared to variant 1. It encodes isoform 4 which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AK301654, BC015385, D38552, DB454273
    Consensus CDS
    CCDS64162.1
    UniProtKB/Swiss-Prot
    Q96BP3
    Related
    ENSP00000444496.1, ENST00000538977.5
    Conserved Domains (4) summary
    COG2319
    Location:35173
    WD40; WD40 repeat [General function prediction only]
    cd01927
    Location:339487
    cyclophilin_WD40; cyclophilin_WD40: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a WD40 domain. This group consists of several hypothetical and putative eukaryotic and bacterial proteins which have a cyclophilin domain and a WD40 domain. ...
    sd00039
    Location:2365
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:37162
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  4. NM_015342.4NP_056157.1  peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056157.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BM669378, D38552, DB454273
    Consensus CDS
    CCDS3985.1
    UniProtKB/Swiss-Prot
    Q96BP3
    Related
    ENSP00000261308.4, ENST00000261308.10
    Conserved Domains (3) summary
    cd01927
    Location:495643
    cyclophilin_WD40; cyclophilin_WD40: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a WD40 domain. This group consists of several hypothetical and putative eukaryotic and bacterial proteins which have a cyclophilin domain and a WD40 domain. ...
    sd00039
    Location:136177
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:89318
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    65563239..65587549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248474.4XP_005248531.1  peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform X2

    Conserved Domains (1) summary
    cd01927
    Location:195343
    cyclophilin_WD40; cyclophilin_WD40: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a WD40 domain. This group consists of several hypothetical and putative eukaryotic and bacterial proteins which have a cyclophilin domain and a WD40 domain. ...
  2. XM_006714583.4XP_006714646.1  peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform X1

    See identical proteins and their annotated locations for XP_006714646.1

    Conserved Domains (4) summary
    COG2319
    Location:6210
    WD40; WD40 repeat [General function prediction only]
    cd01927
    Location:399547
    cyclophilin_WD40; cyclophilin_WD40: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a WD40 domain. This group consists of several hypothetical and putative eukaryotic and bacterial proteins which have a cyclophilin domain and a WD40 domain. ...
    sd00039
    Location:4081
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:6222
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
  3. XM_017009286.1XP_016864775.1  peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform X3

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