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PUDP pseudouridine 5'-phosphatase [ Homo sapiens (human) ]

Gene ID: 8226, updated on 7-Jun-2020

Summary

Official Symbol
PUDPprovided by HGNC
Official Full Name
pseudouridine 5'-phosphataseprovided by HGNC
Primary source
HGNC:HGNC:16818
See related
Ensembl:ENSG00000130021 MIM:306480
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
GS1; HDHD1; HDHD1A; FAM16AX; DXF68S1E
Summary
This gene encodes a member of the haloacid dehalogenase-like (HAD) hydrolase superfamily. The encoded protein has no known biological function. This gene has a pseudogene on chromosome 1. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]
Expression
Ubiquitous expression in placenta (RPKM 6.4), colon (RPKM 5.4) and 25 other tissues See more
Orthologs

Genomic context

See PUDP in Genome Data Viewer
Location:
Xp22.31
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (6768840..7148153, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (6966961..7066231, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene S232-VCX3A recombination region Neighboring gene RPS5 pseudogene 8 Neighboring gene variable charge X-linked 3A Neighboring gene uncharacterized LOC107987331 Neighboring gene RPS27A pseudogene 17 Neighboring gene microRNA 4767 Neighboring gene Sharpr-MPRA regulatory region 5189 Neighboring gene steroid sulfatase Neighboring gene variable charge X-linked

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 PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
pseudouridine 5'-phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
nucleotide metabolic process IEA
Inferred from Electronic Annotation
more info
 
pyrimidine nucleoside salvage TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
pseudouridine-5'-phosphatase
Names
5'-PsiMPase
family with sequence similarity 16, member A, X-linked
haloacid dehalogenase-like hydrolase domain containing 1
haloacid dehalogenase-like hydrolase domain containing 1A
haloacid dehalogenase-like hydrolase domain-containing protein 1
haloacid dehalogenase-like hydrolase domain-containing protein 1A
pseudouridine-5'-monophosphatase
NP_001129037.1
NP_001171606.1
NP_001171607.1
NP_036212.3

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.

Genomic

  1. NG_021256.1 RefSeqGene

    Range
    5038..104271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135565.2NP_001129037.1  pseudouridine-5'-phosphatase isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AC073583, BC012494, DR156836
    Consensus CDS
    CCDS48076.1
    UniProtKB/Swiss-Prot
    Q08623
    Related
    ENSP00000396452.2, ENST00000424830.6
    Conserved Domains (2) summary
    TIGR02009
    Location:11217
    PGMB-YQAB-SF; beta-phosphoglucomutase family hydrolase
    cl21460
    Location:15251
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  2. NM_001178135.2NP_001171606.1  pseudouridine-5'-phosphatase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has an alternate 3' exon compared to variant 1. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC073583, AK300740, DC388394
    Consensus CDS
    CCDS55366.1
    UniProtKB/Swiss-Prot
    Q08623
    Related
    ENSP00000430995.2, ENST00000486446.3
    Conserved Domains (1) summary
    cl21460
    Location:15166
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. NM_001178136.2NP_001171607.1  pseudouridine-5'-phosphatase isoform d

    See identical proteins and their annotated locations for NP_001171607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an in-frame segment in the CDS compared to variant 1. The resulting isoform (d) lacks an internal segment compared to isoform 1.
    Source sequence(s)
    AC073583, AK300985, BC012494
    Consensus CDS
    CCDS55367.1
    UniProtKB/Swiss-Prot
    Q08623
    Related
    ENSP00000406260.2, ENST00000412827.6
    Conserved Domains (2) summary
    TIGR02009
    Location:11151
    PGMB-YQAB-SF; beta-phosphoglucomutase family hydrolase
    cl21460
    Location:15185
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  4. NM_012080.5NP_036212.3  pseudouridine-5'-phosphatase isoform b

    See identical proteins and their annotated locations for NP_036212.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AC073583, BC012494, DA653367, DC388394
    Consensus CDS
    CCDS48075.1
    UniProtKB/Swiss-Prot
    Q08623
    Related
    ENSP00000370467.5, ENST00000381077.9
    Conserved Domains (2) summary
    TIGR02009
    Location:11194
    PGMB-YQAB-SF; beta-phosphoglucomutase family hydrolase
    cl21460
    Location:15228
    HAD_like; Haloacid Dehalogenase-like Hydrolases

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_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    6768840..7148153 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001755734.1 RNA Sequence

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