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

Gene ID: 8226, updated on 26-May-2016
Official Symbol
PUDPprovided by HGNC
Official Full Name
pseudouridine 5'-phosphataseprovided by HGNC
Primary source
HGNC:HGNC:16818
See related
Ensembl:ENSG00000130021 HPRD:02383; MIM:306480; Vega:OTTHUMG00000021101
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]
Orthologs
Location:
Xp22.32
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) X NC_000023.11 (7048920..7148190, 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 variable charge, X-linked 3A Neighboring gene ribosomal protein S27a pseudogene 17 Neighboring gene microRNA 4767 Neighboring gene steroid sulfatase (microsomal), isozyme S Neighboring gene patatin like phospholipase domain containing 4 Neighboring gene variable charge, X-linked

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of nucleotides, organism-specific biosystem (from REACTOME)
    Metabolism of nucleotides, organism-specific biosystemNucleotides and their derivatives are used for short-term energy storage (ATP, GTP), for intra- and extra-cellular signaling (cAMP; adenosine), as enzyme cofactors (NAD, FAD), and for the synthesis o...
  • Pyrimidine metabolism, organism-specific biosystem (from REACTOME)
    Pyrimidine metabolism, organism-specific biosystemThe events of human pyrimidine metabolism are conveniently, if somewhat arbitrarily, grouped into four pathways: de novo synthesis of the pyrimidine ring and its conversion to uridine 5'-monophosphat...
  • Pyrimidine salvage reactions, organism-specific biosystem (from REACTOME)
    Pyrimidine salvage reactions, organism-specific biosystemIn pyrimidine salvage reactions, nucleosides and free bases generated by DNA and RNA breakdown are converted back to nucleotide monophosphates, allowing them to re-enter the pathways of pyrimidine bi...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
hydrolase activity TAS
Traceable Author Statement
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
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
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    5001..104271
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001135565.1NP_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, DC388394, DR156836
    Consensus CDS
    CCDS48076.1
    UniProtKB/Swiss-Prot
    Q08623
    Related
    ENSP00000396452, OTTHUMP00000225776, ENST00000424830, OTTHUMT00000377091
    Conserved Domains (2) summary
    cd01427
    Location:114217
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR02009
    Location:11217
    PGMB-YQAB-SF; beta-phosphoglucomutase family hydrolase
  2. NM_001178135.1NP_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
    ENSP00000441208, ENST00000540122
    Conserved Domains (2) summary
    cd01427
    Location:91162
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    cl21460
    Location:12120
    HAD_like; Haloacid Dehalogenase-like Hydrolases
  3. NM_001178136.1NP_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, DC388394
    Consensus CDS
    CCDS55367.1
    UniProtKB/Swiss-Prot
    Q08623
    Related
    ENSP00000406260, OTTHUMP00000225775, ENST00000412827, OTTHUMT00000377090
    Conserved Domains (2) summary
    cd01427
    Location:11151
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR02009
    Location:11151
    PGMB-YQAB-SF; beta-phosphoglucomutase family hydrolase
  4. NM_012080.4NP_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, OTTHUMP00000022867, ENST00000381077, OTTHUMT00000055683
    Conserved Domains (3) summary
    cd01427
    Location:91194
    HAD_like; Haloacid dehalogenase-like hydrolases. The haloacid dehalogenase-like (HAD) superfamily includes L-2-haloacid dehalogenase, epoxide hydrolase, phosphoserine phosphatase, phosphomannomutase, phosphoglycolate phosphatase, P-type ATPase, and many others, ...
    TIGR02009
    Location:11194
    PGMB-YQAB-SF; beta-phosphoglucomutase family hydrolase
    cl21460
    Location:12120
    HAD_like; Haloacid Dehalogenase-like Hydrolases

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_000023.11 Reference GRCh38.p2 Primary Assembly

    Range
    7048920..7148190 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 Alternate CHM1_1.1

    Range
    6998027..7097291 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)