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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables enzyme binding	IPI IPI: Inferred from physical interaction	23382074	GOA
enables pseudouridine synthase activity	IDA IDA: Inferred from direct assay	29628141	GOA
enables pseudouridine synthase activity	IMP IMP: Inferred from mutant phenotype	28073919	GOA
enables tRNA pseudouridine(13) synthase activity	IDA IDA: Inferred from direct assay	34718722	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mRNA pseudouridine synthesis	IDA IDA: Inferred from direct assay	31477916	GOA
involved in mRNA pseudouridine synthesis	IMP IMP: Inferred from mutant phenotype	28073919	GOA
involved in negative regulation of translation	IDA IDA: Inferred from direct assay	29628141	GOA
involved in negative regulation of translation	IMP IMP: Inferred from mutant phenotype	35144859	GOA
involved in regulation of hematopoietic stem cell differentiation	IMP IMP: Inferred from mutant phenotype	29628141	GOA
involved in regulation of mesoderm development	IMP IMP: Inferred from mutant phenotype	29628141	GOA
involved in tRNA pseudouridine synthesis	IDA IDA: Inferred from direct assay	29628141	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in nucleus	IDA IDA: Inferred from direct assay	35144859	GOA
located in nucleus	IDA IDA: Inferred from direct assay	29628141	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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11470	PUS7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Others	PUS7	NCBI

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