PUDP - pseudouridine 5'-phosphatase Gene

Homo sapiens

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

Gene ID: 8226 | Gene type: protein coding

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

PUDP Protein Structure

HAD_2

0
100
200
228 a.a.

Protein Preferred Names

Protein Names

pseudouridine-5'-phosphatase

5'-PsiMPase

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11459	PUDP Human Pre-designed siRNA Set A		/	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