PUS7 - pseudouridine synthase 7 Gene

Homo sapiens

Also known as IDDABS

Gene ID: 54517 | Gene type: protein coding

About PUS7

Cytogenetic location: 7q22.3 Genomic coordinates (GRCh38): 7:105,456,501-105,522,271 (from NCBI)

This gene has 6 transcripts (splice variants), 205 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in thyroid (RPKM 5.5), skin (RPKM 3.6) and 25 other tissues.

Summary

Enables Enzyme binding activity and pseudouridine synthase activity. Involved in several processes, including pseudouridine synthesis; regulation of hematopoietic stem cell differentiation; and regulation of mesoderm development. Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

PUS7 Products(3)

mRNA	Protein	Name
NM_001318163.1	NP_001305092.1	pseudouridylate synthase 7 homolog isoform a
NM_001318164.2	NP_001305093.1	pseudouridylate synthase 7 homolog isoform b
NM_019042.5	NP_061915.2	pseudouridylate synthase 7 homolog isoform b

PUS7 Protein Structure

TruD

0
200
400
600
661 a.a.

Protein Preferred Names

Protein Names

pseudouridylate synthase 7 homolog

pseudouridylate synthase 7 (putative)

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature

IDDABS

Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1

Mitochondrial Myopathy And Sideroblastic Anemia	MLASA1
Mlasa	Myopathy, Lactic Acidosis And Sideroblastic Anemia
Myopathy With Lactic Acidosis And Sideroblastic Anemia	Sideroblastic Anemia And Mitochondrial Myopathy
Myopathy With Lactic Acidosis And Sideroblastic Anemia 1

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS11470	PUS7 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PUS7	MGD	MGI:1925947
Felis catus	PUS7	VGNC	VGNC:64440
Canis familiaris	PUS7	VGNC	VGNC:96693
Rattus norvegicus	PUS7	RGD	RGD:1307054
Bos taurus	PUS7	VGNC	VGNC:54567
Macaca mulatta	PUS7	VGNC	VGNC:76541