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SOX5

From Wikipedia, the free encyclopedia
Protein-coding gene in Homo sapiens
SOX5
Identifiers
AliasesSOX5, L-L-SOX5B, L-SOX5F, LAMSHF, SRY-box 5, SRY-box transcription factor 5
External IDsOMIM:604975;MGI:98367;HomoloGene:21378;GeneCards:SOX5;OMA:SOX5 - orthologs
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for SOX5
Genomic location for SOX5
Band12p12.1Start23,529,504bp[1]
End24,562,544bp[1]
Gene location (Mouse)
Chromosome 6 (mouse)
Chr.Chromosome 6 (mouse)[2]
Chromosome 6 (mouse)
Genomic location for SOX5
Genomic location for SOX5
Band6 G3|6 76.14 cMStart143,828,425bp[2]
End144,781,977bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • Achilles tendon

  • synovial joint

  • sural nerve

  • tibia

  • ganglionic eminence

  • ventricular zone

  • cartilage tissue

  • left testis

  • right testis

  • skin of thigh
Top expressed in
  • seminiferous tubule

  • spermatid

  • ganglionic eminence

  • Rostral migratory stream

  • lumbar subsegment of spinal cord

  • subiculum

  • foot

  • ankle joint

  • lateral geniculate nucleus

  • external carotid artery
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

6660

20678

Ensembl

ENSG00000134532

ENSMUSG00000041540

UniProt

P35711

P35710

RefSeq (mRNA)
NM_001261414
NM_001261415
NM_006940
NM_152989
NM_178010

NM_001330785

NM_001113559
NM_001243163
NM_011444
NM_001347506

RefSeq (protein)
NP_001248343
NP_001248344
NP_001317714
NP_008871
NP_694534

NP_821078

NP_001107031
NP_001230092
NP_001334435
NP_035574

Location (UCSC)Chr 12: 23.53 – 24.56 MbChr 6: 143.83 – 144.78 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transcription factor SOX-5 is aprotein that in humans is encoded by theSOX5gene.[5][6]

Function

[edit]

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 the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[6]


Mutations in the SOX5 gene can causeLamb-Shaffer syndrome.

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000134532Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000041540Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Wunderle VM, Critcher R, Ashworth A, Goodfellow PN (Sep 1996). "Cloning and characterization of SOX5, a new member of the human SOX gene family".Genomics.36 (2):354–8.doi:10.1006/geno.1996.0474.PMID 8812465.
  6. ^ab"Entrez Gene: SOX5 SRY (sex determining region Y)-box 5".

Further reading

[edit]
PDB gallery
  • 1i11: SOLUTION STRUCTURE OF THE DNA BINDING DOMAIN, SOX-5 HMG BOX FROM MOUSE
    1i11: SOLUTION STRUCTURE OF THE DNA BINDING DOMAIN, SOX-5 HMG BOX FROM MOUSE
(1) Basic domains
(1.1) Basicleucine zipper (bZIP)
(1.2) Basic helix-loop-helix (bHLH)
Group A
Group B
Group C
bHLH-PAS
Group D
Group E
Group F
bHLH-COE
(1.3)bHLH-ZIP
(1.4) NF-1
(1.5) RF-X
(1.6) Basic helix-span-helix (bHSH)
(2)Zinc finger DNA-binding domains
(2.1)Nuclear receptor(Cys4)
subfamily 1
subfamily 2
subfamily 3
subfamily 4
subfamily 5
subfamily 6
subfamily 0
(2.2) Other Cys4
(2.3) Cys2His2
(2.4) Cys6
(2.5) Alternating composition
(2.6) WRKY
(3.1)Homeodomain
Antennapedia
ANTP class
protoHOX
Hox-like
metaHOX
NK-like
other
(3.2) Paired box
(3.3)Fork head /winged helix
(3.4)Heat shock factors
(3.5) Tryptophan clusters
(3.6) TEA domain
  • transcriptional enhancer factor
(4)β-Scaffold factors with minor groove contacts
(4.1)Rel homology region
(4.2)STAT
(4.3) p53-like
(4.4)MADS box
(4.6)TATA-binding proteins
(4.7)High-mobility group
(4.9) Grainyhead
(4.10) Cold-shock domain
(4.11) Runt
(0) Other transcription factors
(0.2) HMGI(Y)
(0.3)Pocket domain
(0.5)AP-2/EREBP-related factors
(0.6) Miscellaneous
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