SOHLH1 - spermatogenesis and oogenesis specific basic helix-loop-helix 1 Gene

Homo sapiens

Also known as ODG5; TEB2; NOHLH; SPGF32; SPATA27; bHLHe80; C9orf157; bA100C15.3

Gene ID: 402381 | Gene type: protein coding

About SOHLH1

Cytogenetic location: 9q34.3 Genomic coordinates (GRCh38): 9:135,693,407-135,702,112 (from NCBI)

This gene has 4 transcripts (splice variants), 65 orthologues, 1 paralogue and is associated with 3 phenotypes. Restricted expression toward testis (RPKM 2.3).

Summary

This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 9. Mutations in this gene are associated with nonobstructive azoospermia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2013]

SOHLH1 Products(2)

mRNA	Protein	Name
NM_001012415.3	NP_001012415.3	spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform b
NM_001101677.2	NP_001095147.2	spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 isoform a

SOHLH1 Protein Structure

HLH

0
100
200
300
328 a.a.

Protein Preferred Names

Protein Names

spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1

newborn ovary helix loop helix

Related Diseases

Diseases

Alias

Spermatogenic Failure 32

SPGF32

Ovarian Dysgenesis 5

ODG5	Dysgenesis, Ovarian, Type 5

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation

Spastic Paraplegia 24, Autosomal Recessive

SPG24	Spastic Paraplegia 24
Hereditary Spastic Paraplegia 24	Autosomal Recessive Spastic Paraplegia Type 24
Autosomal Recessive Spastic Paraplegia 24

Uterine Hypoplasia

Atrophy Of Testis

Atrophic Testicle	Atrophy Of Testicle
Testicular Atrophy

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

Hereditary Spastic Paraplegia 56

Autosomal Recessive Spastic Paraplegia Type 56	Spg56
Autosomal Recessive Spastic Paraplegia 56

Spermatogenic Failure 10

SPGF10

Spermatogenic Failure With Defective Sperm Annulus

Premature Menopause

Primary Ovarian Insufficiency	Premature Ovarian Failure
Hypergonadotropic Hypogonadism	Premature Ovarian Insufficiency
Menopause - Premature	Menopause Praecox
Menopause Premature	Menopause, Premature
Female Hypergonadotropic Hypogonadism	Hypergonadotrophic Ovarian Failure
Primary Female Hypogonadism	Pof - [Premature Ovarian Failure]
Ovarian Failure	Ovarian Secretion Suppression
Ovary Hyposecretion	Ovary Secretion Deficiency
Premature Menopause Nos

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis	Gonadal Dysgenesis, 46,Xx
Dysgenesis, Ovarian

Spermatogenic Failure, X-Linked, 1

Sertoli Cell-Only Syndrome	Germinal Cell Aplasia
Del Castillo Syndrome	SPGFX1
X-Linked Spermatogenic Failure 1	Congenital Absence Of Germinal Epithelium Of Testes

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome	Deafness-Hermann Type Symphalangism Syndrome
Facio-Audio-Symphalangism	Hearing Loss-Hermann Type Symphalangism Syndrome
Wl Syndrome	Multiple Synostosis Syndrome

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness	Ovarian Dysgenesis With Sensorineural Deafness
Gonadal Dysgenesis, Xx Type	Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance	Xx Gonodal Dysgenesis-Deafness Syndrome
Xx Gonodal Dysgenesis-Hearing Loss Syndrome	Gonadal Dysgenesis Xx Type Deafness

Disorder Of Sexual Development

Disorder Of Sex Development	Disorders Of Sex Development
Sex Development Disorder	Sex Differentiation Disease
Dsd	Sex Differentiation Disorders

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

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

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-RS13564	SOHLH1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	SOHLH1	RGD	RGD:1564440
Felis catus	SOHLH1	VGNC	VGNC:102984
Canis familiaris	SOHLH1	VGNC	VGNC:46656
Mus musculus	SOHLH1	MGD	MGI:2684956

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