SOX1 (SRY-box transcription factor 1)

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Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6656
• Gene name: SRY-box transcription factor 1
• Gene symbol: SOX1
• Synonyms (NCBI Gene): -
• Chromosome: 13
• Chromosome location: 13q34
• 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 activato

miRNA Show/Hide all (94)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017005	hsa-miR-335-5p	Microarray	18185580
MIRT718365	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT718364	hsa-miR-7159-5p	HITS-CLIP	19536157
MIRT718363	hsa-miR-4273	HITS-CLIP	19536157
MIRT718362	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT718361	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT718360	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT718359	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT718358	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT718357	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT718356	hsa-miR-649	HITS-CLIP	19536157
MIRT733434	hsa-miR-155-5p	ChIP-seq, Immunohistochemistry (IHC), Luciferase reporter assay, qRT-PCR, Western blotting	32675943
MIRT718365	hsa-miR-3065-5p	HITS-CLIP	19536157
MIRT718364	hsa-miR-7159-5p	HITS-CLIP	19536157
MIRT718363	hsa-miR-4273	HITS-CLIP	19536157
MIRT718362	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT718361	hsa-miR-4677-5p	HITS-CLIP	19536157
MIRT718360	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT718359	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT718358	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT718357	hsa-miR-6739-3p	HITS-CLIP	19536157
MIRT718356	hsa-miR-649	HITS-CLIP	19536157
MIRT733434	hsa-miR-155-5p	Luciferase reporter assay, Western blotting, qRT-PCR, Immunohistochemistry (IHC)	34876142
MIRT1380308	hsa-miR-205	CLIP-seq
MIRT1380309	hsa-miR-2355-3p	CLIP-seq
MIRT1380310	hsa-miR-320a	CLIP-seq
MIRT1380311	hsa-miR-320b	CLIP-seq
MIRT1380312	hsa-miR-320c	CLIP-seq
MIRT1380313	hsa-miR-320d	CLIP-seq
MIRT1380314	hsa-miR-3925-3p	CLIP-seq
MIRT1380315	hsa-miR-4299	CLIP-seq
MIRT1380316	hsa-miR-4429	CLIP-seq
MIRT1380317	hsa-miR-4456	CLIP-seq
MIRT1380318	hsa-miR-4635	CLIP-seq
MIRT1380319	hsa-miR-4646-3p	CLIP-seq
MIRT1380320	hsa-miR-4709-3p	CLIP-seq
MIRT1380321	hsa-miR-4712-5p	CLIP-seq
MIRT1380322	hsa-miR-514	CLIP-seq
MIRT1380323	hsa-miR-514b-3p	CLIP-seq
MIRT1380324	hsa-miR-516a-5p	CLIP-seq
MIRT1380325	hsa-miR-548q	CLIP-seq
MIRT1380326	hsa-miR-561	CLIP-seq
MIRT1380327	hsa-miR-676	CLIP-seq
MIRT1380328	hsa-miR-766	CLIP-seq
MIRT1380329	hsa-miR-770-5p	CLIP-seq
MIRT2113813	hsa-miR-101	CLIP-seq
MIRT2113814	hsa-miR-1285	CLIP-seq
MIRT2113815	hsa-miR-139-5p	CLIP-seq
MIRT2113816	hsa-miR-144	CLIP-seq
MIRT2113817	hsa-miR-221	CLIP-seq
MIRT2113818	hsa-miR-222	CLIP-seq
MIRT2113819	hsa-miR-3187-5p	CLIP-seq
MIRT2113820	hsa-miR-378g	CLIP-seq
MIRT2113821	hsa-miR-4282	CLIP-seq
MIRT2113822	hsa-miR-4486	CLIP-seq
MIRT2113823	hsa-miR-4775	CLIP-seq
MIRT2113824	hsa-miR-548v	CLIP-seq
MIRT2113825	hsa-miR-587	CLIP-seq
MIRT2113826	hsa-miR-590-3p	CLIP-seq
MIRT2113827	hsa-miR-612	CLIP-seq
MIRT2336755	hsa-miR-1207-3p	CLIP-seq
MIRT2336756	hsa-miR-1256	CLIP-seq
MIRT2336757	hsa-miR-4685-5p	CLIP-seq
MIRT2336758	hsa-miR-4720-5p	CLIP-seq
MIRT2336759	hsa-miR-4799-3p	CLIP-seq
MIRT2336760	hsa-miR-508-5p	CLIP-seq
MIRT2394958	hsa-miR-302a	CLIP-seq
MIRT2394959	hsa-miR-302b	CLIP-seq
MIRT2394960	hsa-miR-302c	CLIP-seq
MIRT2394961	hsa-miR-302d	CLIP-seq
MIRT2394962	hsa-miR-302e	CLIP-seq
MIRT2394963	hsa-miR-372	CLIP-seq
MIRT2394964	hsa-miR-373	CLIP-seq
MIRT2394965	hsa-miR-4535	CLIP-seq
MIRT2394966	hsa-miR-4776-5p	CLIP-seq
MIRT2394967	hsa-miR-492	CLIP-seq
MIRT2394968	hsa-miR-519a	CLIP-seq
MIRT2394969	hsa-miR-519b-3p	CLIP-seq
MIRT2394970	hsa-miR-519c-3p	CLIP-seq
MIRT2394971	hsa-miR-520a-3p	CLIP-seq
MIRT2394972	hsa-miR-520b	CLIP-seq
MIRT2394973	hsa-miR-520c-3p	CLIP-seq
MIRT2394974	hsa-miR-520d-3p	CLIP-seq
MIRT2394975	hsa-miR-520e	CLIP-seq
MIRT2394976	hsa-miR-520f	CLIP-seq
MIRT2394977	hsa-miR-548ae	CLIP-seq
MIRT2394978	hsa-miR-548aj	CLIP-seq
MIRT2394979	hsa-miR-548am	CLIP-seq
MIRT2394980	hsa-miR-548x	CLIP-seq
MIRT2394981	hsa-miR-636	CLIP-seq
MIRT2460279	hsa-miR-1297	CLIP-seq
MIRT2460280	hsa-miR-26a	CLIP-seq
MIRT2460281	hsa-miR-26b	CLIP-seq
MIRT2460282	hsa-miR-4465	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NANOG	Activation	22378194

Gene ontology (GO) Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	20049565
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001764	Process	Neuron migration	IEA
GO:0002089	Process	Lens morphogenesis in camera-type eye	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	9337405
GO:0003700	Function	DNA-binding transcription factor activity	NAS	9337405
GO:0005515	Function	Protein binding	IPI	20929579
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	9337405
GO:0006325	Process	Chromatin organization	NAS	9337405
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	9337405
GO:0007420	Process	Brain development	IBA
GO:0021521	Process	Ventral spinal cord interneuron specification	IEA
GO:0021879	Process	Forebrain neuron differentiation	IEA
GO:0021884	Process	Forebrain neuron development	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0030900	Process	Forebrain development	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0048713	Process	Regulation of oligodendrocyte differentiation	IEA
GO:0048713	Process	Regulation of oligodendrocyte differentiation	ISS
GO:1904936	Process	Interneuron migration	IEA
GO:1904936	Process	Interneuron migration	ISS
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 602148
• HGNC: 11189
• e!Ensembl: ENSG00000182968

Protein

• UniProt ID: O00570
• Protein name: Transcription factor SOX-1
• Protein function: Transcriptional activator. May function as a switch in neuronal development. Keeps neural cells undifferentiated by counteracting the activity of proneural proteins and suppresses neuronal differentiation (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	51 → 119	HMG (high mobility group) box	Domain
  PF12336	SOXp	120 → 249	SOX transcription factor	Family

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in the developing central nervous system.
• Sequence:

  MYSMMMETDLHSPGGAQAPTNLSGPAGAGGGGGGGGGGGGGGGAKANQDRVKRPMNAFMV
  WSRGQRRKMAQENPKMHNSEISKRLGAEWKVMSEAEKRPFIDEAKRLRALHMKEHPDYKY
  RPRRKTKTLLKKDKYSLAGGLLAAGAGGGGAAVAMGVGVGVGAAAVGQRLESPGGAAGGG
  YAHVNGWANGAYPGSVAAAAAAAAMMQEAQLAYGQHPGAGGAHPHAHPAHPHPHHPHAHP
  HNPQPMHRYDMGALQYSPISNSQGYMSASPSGYGGLPYGAAAAAAAAAGGAHQNSAVAAA
  AAAAAASSGALGALGSLVKSEPSGSPPAPAHSRAPCPGDLREMISMYLPAGEGGDPAAAA
  AAAAQSRLHSLPQHYQGAGAGVNGTVPLTHI

• Sequence length: 391

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
SOX1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (70)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	23994634		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	28389060		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	18942711		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28586118		★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	20564139, 24844223		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28586118		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25613070		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27452040	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26057869	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	27738327	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23994634		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37370144	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23215838, 23927962, 27738327		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	23215838, 23927962, 27738327		★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	23994634		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29945573, 31547144	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25449566		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	26057869	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30935961	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29734022	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	29734022		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24936140, 31629253	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28425506		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21211035, 28425506		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28425506		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	28389060		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29734022	Associate	★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	LHGDN	18032743		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26040764		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22767186, 23215838, 23994634, 25613070, 26191244, 28592127		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28592127		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22522909	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26191244	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23994634		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25613070		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23994634		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20929579		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25982683		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28586118		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26191244, 31629253		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	23215838, 23927962, 27738327		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	29734022		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	20564139	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	24799352, 24844223	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20049565		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25427424		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	32382038	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22767186, 23927962, 24799352, 25287138, 25613070, 26191244, 28592127, 31567982		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31031763	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	31031763		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23994634, 25613070		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	15298715	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23994634		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	31031763		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20929579	Stimulate	★☆☆☆☆ Found in Text Mining only
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	24138016		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	23927962		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	10760287, 31031763		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	18032743		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10760287, 15880380, 23536908, 31031763	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25985991		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31629253		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26040764	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25982683		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25982683	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24799352	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	35682732	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	25985991		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	25985991, 27738327, 28500655	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35682732	Inhibit	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for SOX1.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to SOX1.