Entity Details

Primary name SOX11_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP35716
EntryNameSOX11_HUMAN
FullNameTranscription factor SOX-11
TaxID9606
Evidenceevidence at protein level
Length441
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesSOX11

GO terms

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GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001501 skeletal system development
GO:0001822 kidney development
GO:0001841 neural tube formation
GO:0002089 lens morphogenesis in camera-type eye
GO:0003151 outflow tract morphogenesis
GO:0003211 cardiac ventricle formation
GO:0003357 noradrenergic neuron differentiation
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005886 plasma membrane
GO:0006355 regulation of transcription, DNA-templated
GO:0008284 positive regulation of cell population proliferation
GO:0009653 anatomical structure morphogenesis
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0014003 oligodendrocyte development
GO:0014009 glial cell proliferation
GO:0014032 neural crest cell development
GO:0017015 regulation of transforming growth factor beta receptor signaling pathway
GO:0021510 spinal cord development
GO:0021782 glial cell development
GO:0030154 cell differentiation
GO:0030182 neuron differentiation
GO:0030513 positive regulation of BMP signaling pathway
GO:0035332 positive regulation of hippo signaling
GO:0035914 skeletal muscle cell differentiation
GO:0045666 positive regulation of neuron differentiation
GO:0045669 positive regulation of osteoblast differentiation
GO:0045778 positive regulation of ossification
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046887 positive regulation of hormone secretion
GO:0048485 sympathetic nervous system development
GO:0048557 embryonic digestive tract morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0050672 negative regulation of lymphocyte proliferation
GO:0050769 positive regulation of neurogenesis
GO:0060022 hard palate development
GO:0060023 soft palate development
GO:0060174 limb bud formation
GO:0060253 negative regulation of glial cell proliferation
GO:0060412 ventricular septum morphogenesis
GO:0060425 lung morphogenesis
GO:0060548 negative regulation of cell death
GO:0060563 neuroepithelial cell differentiation
GO:0061029 eyelid development in camera-type eye
GO:0061053 somite development
GO:0061303 cornea development in camera-type eye
GO:0061386 closure of optic fissure
GO:2000648 positive regulation of stem cell proliferation
GO:2000678 negative regulation of transcription regulatory region DNA binding
GO:2001111 positive regulation of lens epithelial cell proliferation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR009071 High mobility group box domainDomainDomain
IPR017386 Transcription factor SOX-12/11/4FamilyFamily
IPR029551 Transcription factor SOX-11FamilyFamily
IPR036910 High mobility group box domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
615866 OMIMCoffin-Siris syndrome 9 (CSS9)A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS9 is an autosomal dominant form characterized by dysmorphic facial features, microcephaly, growth deficiency, hypoplastic fifth toenails, and mild intellectual disability. The disease is caused by variants affecting the gene represented in this entry.

Interactions

3 interactions