SOX1 - SRY-box transcription factor 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6656

About SOX1

Cytogenetic location: 13q34 Genomic coordinates (GRCh38): 13:112,067,149-112,071,706 (from NCBI)

This gene has 1 transcript (splice variant), 193 orthologues and 20 paralogues.

Summary

This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional activator after forming a protein complex with Other proteins. In mice, a similar protein regulates the gamma-crystallin genes and is essential for lens development. [provided by RefSeq, Jul 2008]

SOX1 Products (1)

mRNA Protein Name
NM_005986.3 NP_005977.2 transcription factor SOX-1
Molecular Function GO Annotation Evidence References Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
20049565 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20929579 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

SOX1 Protein Structure

HMG_box

HMG_box: HMG (high mobility group) box (51 - 119)

SOXp

SOXp: SOX transcription factor (120 - 224)

  • 0
  • 100
  • 200
  • 300
  • 391 a.a.
Protein Preferred Names Protein Names

transcription factor SOX-1

  • SRY (sex determining region Y)-box 1

SOX1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SOX1 O00570 STAT3 Homo sapiens P40763 20929579
Cross: Cross-species interaction Intra: Intraspecies interaction

SOX1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80330 SOX1 Antibody (YA070) WB, ICC/IF, IHC-P Human, Mouse, Rat
HY-P87081 SOX1 Antibody (YA6774) WB, IHC-F, IHC-P Human, Mouse, Rat

Related Diseases

Diseases Alias
Lambert-Eaton Myasthenic Syndrome
  • Lambert-Eaton Syndrome

  • Eaton-Lambert Syndrome

  • Lems

  • Lambert Eaton Myasthenic Syndrome

  • Eaton Lambert Syndrome

  • Lambert Eaton Syndrome

  • Myasthenic Syndrome Of Lambert-Eaton

  • Myasthenic-Myopathic Syndrome Of Lambert-Eaton

  • Lems - [Lambert-Eaton Myasthenic Syndrome]

Bilateral Hypoactive Labyrinth
  • Hypoactive Bilateral Labyrinthine Dysfunction

  • Hypoactive Labyrinth, Bilateral

Inner Ear Disease
  • Labyrinthine Dysfunction

  • Diseases Of Inner Ear

  • Labyrinthine Disease

  • Abnormality Of The Inner Ear

  • Labyrinth Diseases

  • Labyrinthine Disorder

  • Nonfunctioning Labyrinth

  • Labyrinthine Loss Of Function

  • Labyrinthine Syndrome

  • Labyrinthine Disorder Nos

Paraneoplastic Polyneuropathy
Neuromuscular Junction Disease
  • Neuromuscular Junction Diseases

Autoimmune Disease Of Peripheral Nervous System
Limbic Encephalitis
Autoimmune Epilepsy
Retinitis Pigmentosa 50
  • RP50

  • Retinitis Pigmentosa, Concentric

  • Retinitis Pigmentosa-50

  • Retinitis Pigmentosa Concentric

Germ Cell And Embryonal Cancer
  • Germ Cell And Embryonal Neoplasm

Postinfectious Encephalitis
  • Postinfective Encephalitis

  • Secondary Encephalitis

Cataract 34, Multiple Types
  • Cataract, Autosomal Recessive Congenital 3

  • Cataract 34 Multiple Types

  • CTRCT34

  • Catc3

  • Cataract 34, Multiple Types, With Or Without Microcornea

  • Autosomal Recessive Congenital Cataract 3

  • Cataract 34 Multiple Types With Or Without Microcornea

  • Cataract, Multiple Types, Type 34

Germ Cell Cancer
  • Malignant Germ Cell Tumor

  • Neoplasms, Germ Cell And Embryonal

  • Germ Cell Neoplasm

  • Germ Cell Tumour

  • Malignant Tumor Of The Germ Cell

  • Neoplasms Germ Cell

  • Malignant Germ Cell Neoplasm

Neuromuscular Disease
  • Neuromuscular Diseases

  • Neuromuscular Disorders

  • Neuromuscular Disorder

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus SOX1 RGD RGD:6487636
Bos taurus SOX1 VGNC VGNC:35140
Mus musculus SOX1 MGD MGI:98357
Canis familiaris SOX1 VGNC VGNC:57497
Others SOX1 NCBI