PUDP - pseudouridine 5'-phosphatase Gene

Also Known as GS1; HDHD1; HDHD1A; FAM16AX; DXF68S1E

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8226

About PUDP

Cytogenetic location: Xp22.31 Genomic coordinates (GRCh38): X:6,705,838-7,148,153 (from NCBI)

This gene has 7 transcripts (splice variants) and 200 orthologues. Ubiquitous expression in placenta (RPKM 6.4), colon (RPKM 5.4) and 25 other tissues.

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]

PUDP Products (4)

mRNA Protein Name
NM_001135565.2 NP_001129037.1 pseudouridine-5'-phosphatase isoform a
NM_001178135.2 NP_001171606.1 pseudouridine-5'-phosphatase isoform c
NM_001178136.2 NP_001171607.1 pseudouridine-5'-phosphatase isoform d
NM_012080.5 NP_036212.3 pseudouridine-5'-phosphatase isoform b

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence Verweise Source
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables pseudouridine 5'-phosphatase activity IDA
IDA: Inferred from direct assay
20722631 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PUDP Protein Structure

HAD_2

HAD_2: Haloacid dehalogenase-like hydrolase (11 - 194)

  • 0
  • 100
  • 200
  • 228 a.a.
Protein Preferred Names Protein Names

pseudouridine-5'-phosphatase

  • 5'-PsiMPase

PUDP Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Verweise
Intra
PUDP Q08623 MAGEA4 Homo sapiens P43358
Y2H Prey Pooling
32296183
Intra
PUDP Q08623 MAGEA4 Homo sapiens P43358
Y2H Array
32296183
Intra
PUDP Q08623 GLYCTK Homo sapiens Q8IVS8
Validated Y2H
32296183
Intra
PUDP Q08623 AIRIM Homo sapiens Q9NX04
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Ichthyosis, X-Linked

  • X-Linked Ichthyosis

  • Steroid Sulfatase Deficiency

  • Placental Steroid Sulfatase Deficiency

  • Steroid Sulfatase Deficiency Disease

  • XLI

  • Sts Deficiency

  • Ssdd

  • X-Linked Recessive Ichthyosis

  • X-Linked Ichthyosis With Steryl-Sulphatase Deficiency

  • X-Linked Placental Steryl-Sulphatase Deficiency

  • Ssd

  • X Linked Ichthyosis

  • Recessive X-Linked Ichthyosis

  • Rxli

  • Syndromic Recessive X-Linked Ichthyosis

  • Recessive X-Linked Ichthyosis With Extracutaneous Manifestations

  • Syndromic Rxli

  • X-Linked Ichthyosis Syndrome

  • IXL

  • Ichthyosis X-Linked

  • Sex-Linked Ichthyosis

  • X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
Ichthyosis

  • Ichthyoses

  • Non-Syndromic Ichthyosis

  • Congenital Ichthyosis
Developmental And Epileptic Encephalopathy 54

  • DEE54

  • Epileptic Encephalopathy, Early Infantile, 54

  • Eiee54

  • Developmental And Epileptic Encephalopathy, 54

  • Early Infantile Epileptic Encephalopathy 54

  • Encephalopathy, Epileptic, Early Infantile, Type 54
Kallmann Syndrome

  • Hypogonadism With Anosmia

  • Kallman'S Syndrome

  • Anosmic Hypogonadism

  • Anosmic Idiopathic Hypogonadotropic Hypogonadism

  • Hypogonadotropic Hypogonadism And Anosmia

  • Hypogonadotropic Hypogonadism-Anosmia Syndrome

  • Olfacto-Genital Pathological Sequence

  • Familial Hypogonadism With Anosmia

  • Kallman Syndrome

  • Dysplasia Olfactogenitalis Of De Morsier

  • Kallmann'S Syndrome

  • Congenital Hypogonadotropic Hypogonadism With Anosmia
Cryptorchidism, Unilateral Or Bilateral

  • Cryptorchidism

  • Undescended Testicle

  • Undescended Testis

  • Cryptorchism

  • Undescended Testicles

  • CRYPTO

  • Impaired Testicular Descent

  • Cryptosporidiosis

  • Retained Testis

  • Unilateral Cryptorchidism

  • Unilateral Undescended Testis

  • Nondescent Unilateral Testicle

  • Unilateral Cryptorchism

  • Ectopic Testis, Unilateral

  • Bilateral Cryptorchidism

  • Bilateral Cryptorchism

  • Bilateral Nondescent Testicle

  • Bilateral Undescended Testes

  • Bilateral Ectopic Testes
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Art. -Nr. Produktname
Wirkung
Reinheit
Rare Diseases
HY-RS11459 PUDP Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Canis familiaris PUDP VGNC VGNC:45205
Bos taurus PUDP VGNC VGNC:33568
Rattus norvegicus PUDP RGD RGD:1305101
Mus musculus PUDP MGD MGI:1914615
Others PUDP NCBI