DHX37 - DEAH-box helicase 37 Gene

Also Known as Dhr1; DDX37; SRXY11; NEDBAVC

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57647

About DHX37

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:124,946,826-124,989,131 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 18 paralogues and is associated with 6 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.6), lymph node (RPKM 4.2) and 25 other tissues.

Summary

This gene encodes a DEAD box protein. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]

DHX37 Products (1)

mRNA	Protein	Name
NM_032656.4	NP_116045.2	probable ATP-dependent RNA helicase DHX37

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables U3 snoRNA binding	IDA IDA: Inferred from direct assay	30582406	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	30582406	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in brain development	IMP IMP: Inferred from mutant phenotype	31256877	GOA
involved in positive regulation of male gonad development	IDA IDA: Inferred from direct assay	31337883	GOA
involved in ribosomal small subunit biogenesis	IDA IDA: Inferred from direct assay	34516797	GOA
involved in ribosome assembly	IDA IDA: Inferred from direct assay	30582406	GOA
involved in ribosome biogenesis	IDA IDA: Inferred from direct assay	30582406	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	31337883	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	31337883	GOA
located in nucleolus	IDA IDA: Inferred from direct assay	31337883	GOA
part of small-subunit processome	IDA IDA: Inferred from direct assay	34516797	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

DHX37 Protein Structure

DEAD

Helicase_C

HA2

OB_NTP_bind

0
200
400
600
800
1000
1157 a.a.

Protein Preferred Names	Protein Names
probable ATP-dependent RNA helicase DHX37	DEAD/DEAH box helicase DDX37

Related Diseases

Diseases	Alias
46,Xy Sex Reversal 11	Testicular Regression Syndrome Trs SRXY11 Testicular Regression, Embryonic Xy Gonadal Agenesis/Dysgenesis Syndrome Anorchia, Familial 46, Xy Sex Reversal 11 Etrs Embryonic Testicular Regression Syndrome Vanishing Testes Syndrome Vanishing Testis Syndrome Xy Gonadal Agenesis Syndrome
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	NEDBAVC
Anorchia	Testicular Agenesis Bilateral Anorchia Absence Of Testes Congenital Absence Of Testes Empty Scrotum Absent Testicle
46,Xy Partial Gonadal Dysgenesis	46,Xy Pgd 46,Xy Partial Testicular Dysgenesis
46,Xy Sex Reversal	Swyer Syndrome Pure Gonadal Dysgenesis 46,Xy Gonadal Dysgenesis, Xy Female Type Gonadal Dysgenesis, 46,Xy 46,Xy Cgd 46,Xy Complete Gonadal Dysgenesis 46,Xy Pure Gonadal Dysgenesis 46 Xy Gonadal Dysgenesis 46, Xy Cgd 46, Xy Complete Gonadal Dysgenesis 46, Xy Pure Gonadal Dysgenesis Xy Pure Gonadal Dysgenesis Female With 46,Xy Karyotype Xy Females
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Polymicrogyria	Pmg
Neuronal Migration Disorders	Abnormality Of Neuronal Migration Malformations Of Cortical Development, Group Ii Neuronal Dysmigration Syndromes
Developmental And Epileptic Encephalopathy 23	DEE23 Epileptic Encephalopathy, Early Infantile, 23 Eiee23 Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome Epilepsy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome Developmental And Epileptic Encephalopathy, 23 Early Infantile Epileptic Encephalopathy 23
Gonadal Dysgenesis	Gonadal Dysgenesis Syndrome Turner Syndrome
Immunodeficiency 40	Dock2 Deficiency IMD40 Immunodeficiency, Type 40
Adams-Oliver Syndrome	Adams Oliver Syndrome Aos Congenital Scalp Defects With Distal Limb Reduction Anomalies Aplasia Cutis Congenita With Terminal Transverse Limb Defects Congenital Scalp Defects With Distal Limb Anomalies Limb, Scalp And Skull Defects Limb Scalp And Skull Defects Absence Defect Of Limbs, Scalp, And Skull

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03756	DHX37 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DHX37	VGNC	VGNC:71639
Bos taurus	DHX37	VGNC	VGNC:28055
Felis catus	DHX37	VGNC	VGNC:61482
Rattus norvegicus	DHX37	RGD	RGD:1306837
Mus musculus	DHX37	MGD	MGI:3028576
Canis familiaris	DHX37	VGNC	VGNC:39947
Others	DHX37	NCBI