PUS7 - pseudouridine synthase 7 Gene

Also Known as IDDABS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54517

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	References	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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11470	PUS7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20805	Pus7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27319	Pus7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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