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

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 402381

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

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

SOHLH1 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	SOHLH1	Q5JUK2	HEMK1	Homo sapiens	Q9Y5R4	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	KRTAP19-5	Homo sapiens	Q3LI72	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	KRTAP19-5	Homo sapiens	Q3LI72	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	CTAG1A	Homo sapiens	P78358	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	CTAG1A	Homo sapiens	P78358	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	ZMYND12	Homo sapiens	Q9H0C1	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	ZMYND12	Homo sapiens	Q9H0C1	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	ZMYND12	Homo sapiens	Q9H0C1	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	CERCAM	Homo sapiens	Q5T4B2	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	CERCAM	Homo sapiens	Q5T4B2	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	CERCAM	Homo sapiens	Q5T4B2	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	C10orf55	Homo sapiens	Q5SWW7	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	C10orf55	Homo sapiens	Q5SWW7	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	C10orf55	Homo sapiens	Q5SWW7	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	STH	Homo sapiens	Q8IWL8	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	STH	Homo sapiens	Q8IWL8	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	STH	Homo sapiens	Q8IWL8	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	FAM222B	Homo sapiens	Q8WU58	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	PFDN5	Homo sapiens	Q99471	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	PFDN5	Homo sapiens	Q99471	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	PFDN5	Homo sapiens	Q99471	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	TRAF1	Homo sapiens	Q13077	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	TRAF1	Homo sapiens	Q13077	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	CASP3	Homo sapiens	P42574	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	CASP3	Homo sapiens	P42574	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	OIP5	Homo sapiens	O43482	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	OIP5	Homo sapiens	O43482	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	PSMB4	Homo sapiens	P28070	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	PSMB4	Homo sapiens	P28070	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	RUSC1	Homo sapiens	Q9BVN2	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	RUSC1	Homo sapiens	Q9BVN2	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	RUSC1	Homo sapiens	Q9BVN2	Y2H Prey Pooling	32296183
Intra	SOHLH1	Q5JUK2	PEF1	Homo sapiens	Q9UBV8	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	USHBP1	Homo sapiens	Q8N6Y0	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	DTX2	Homo sapiens	Q86UW9	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	NUP54	Homo sapiens	Q7Z3B4	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	TENT5B	Homo sapiens	Q96A09	Validated Y2H	32296183
Intra	SOHLH1	Q5JUK2	ARID5A	Homo sapiens	Q03989	Y2H Array	32296183
Intra	SOHLH1	Q5JUK2	ARID5A	Homo sapiens	Q03989	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS13564	SOHLH1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	SOHLH1	NCBI