1. Gene
  2. SOX1 - SRY-box transcription factor 1 Gene

SOX1 - SRY-box transcription factor 1 Gene

Homo sapiens
Gene ID: 6656 | Gene type: protein coding

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

SOX1 Protein Structure

HMG_box

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

SOXp

SOXp: SOX transcription factor (120 - 224)

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

transcription factor SOX-1

SRY (sex determining region Y)-box 1

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