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SOX13 SRY (sex determining region Y)-box 13 [ Homo sapiens (human) ]

Gene ID: 9580, updated on 25-Jul-2015
Official Symbol
SOX13provided by HGNC
Official Full Name
SRY (sex determining region Y)-box 13provided by HGNC
Primary source
HGNC:HGNC:11192
See related
Ensembl:ENSG00000143842; MIM:604748; Vega:OTTHUMG00000036050
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ICA12; Sox-13
Summary
This 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 cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. It has also been determined to be a type-1 diabetes autoantigen, also known as islet cell antibody 12. [provided by RefSeq, Jul 2008]
Orthologs
See SOX13 in Epigenomics, MapViewer
Location:
1q32
Exon count:
14
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (204073109..204127743)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (204042237..204096871)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371689 Neighboring gene long intergenic non-protein coding RNA 303 Neighboring gene uncharacterized LOC101929441 Neighboring gene ethanolamine kinase 2 Neighboring gene renin

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC117216

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription factor activity, sequence-specific DNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
regulation of gamma-delta T cell differentiation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
Preferred Names
transcription factor SOX-13
Names
SRY-box 13
SRY-related HMG-box gene 13
islet cell antibody 12
islet cell antigen 12
type 1 diabetes autoantigen ICA12

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_005686.2NP_005677.2  transcription factor SOX-13

    See identical proteins and their annotated locations for NP_005677.2

    Status: REVIEWED

    Source sequence(s)
    AF098915, AF116571, BM450236, BQ216323, BQ935858
    Consensus CDS
    CCDS44299.1
    UniProtKB/Swiss-Prot
    Q9UN79
    Related
    ENSP00000356172, OTTHUMP00000034307, ENST00000367204, OTTHUMT00000087881
    Conserved Domains (1) summary
    cd01388
    Location:423494
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    204073109..204127743
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005245623.1XP_005245680.1  

    Conserved Domains (1) summary
    cd01388
    Location:422493
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    205465911..205520530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)