SOX11

Identifiers

SOX11, MRD27, SRY-box 11

External IDs

MGI: 98359 HomoloGene: 37733 GeneCards: SOX11

Gene ontology
Molecular function	• DNA binding • RNA polymerase II transcription coactivator activity • transcription factor activity, sequence-specific DNA binding • transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding • translation factor activity, RNA binding • transcription regulatory region sequence-specific DNA binding • enhancer sequence-specific DNA binding • RNA polymerase II core promoter sequence-specific DNA binding
Cellular component	• cytoplasm • nucleus
Biological process	• embryonic skeletal system morphogenesis • skeletal system development • noradrenergic neuron differentiation • positive regulation of lens epithelial cell proliferation • cell differentiation • cardiac ventricle formation • glial cell development • regulation of transcription, DNA-templated • limb bud formation • lung morphogenesis • sympathetic nervous system development • neural crest cell development • kidney development • negative regulation of glial cell proliferation • signal transduction involved in cell cycle checkpoint • soft palate development • ventricular septum morphogenesis • cornea development in camera-type eye • outflow tract morphogenesis • positive regulation of ossification • negative regulation of transcription from RNA polymerase II promoter • negative regulation of cell death • transcription from RNA polymerase II promoter • eyelid development in camera-type eye • negative regulation of gene expression • negative regulation of lymphocyte proliferation • somite development • transcription, DNA-templated • neuroepithelial cell differentiation • regulation of transforming growth factor beta receptor signaling pathway • nervous system development • positive regulation of transcription, DNA-templated • positive regulation of hippo signaling • positive regulation of neurogenesis • multicellular organism development • positive regulation of gene expression • positive regulation of osteoblast differentiation • lens morphogenesis in camera-type eye • negative regulation of transcription regulatory region DNA binding • hard palate development • positive regulation of neuron differentiation • neuron differentiation • positive regulation of cell proliferation • spinal cord development • positive regulation of BMP signaling pathway • glial cell proliferation • skeletal muscle cell differentiation • embryonic digestive tract morphogenesis • oligodendrocyte development • cell proliferation • positive regulation of stem cell proliferation • neural tube formation • positive regulation of hormone secretion • positive regulation of transcription from RNA polymerase II promoter • closure of optic fissure • translation
Sources:Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

Entrez


6664


20666

Ensembl


ENSG00000176887


ENSMUSG00000063632

UniProt


P35716


Q7M6Y2

RefSeq (mRNA)


NM_003108


NM_009234

RefSeq (protein)


NP_003099.1


NP_033260.4

Location (UCSC)

Chr 2: 5.69 – 5.7 Mb

Chr 12: 27.33 – 27.34 Mb

PubMed search

^[1]

^[2]

Wikidata

View/Edit Human

View/Edit Mouse

Transcription factor SOX-11 is a protein that in humans is encoded by the SOX11 gene.^[3]^[4]^[5]

Function

This intronless gene encodes a member of the group C SOX (SRY-related HMG-box) transcription factor family 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 protein may function in the developing nervous system and play a role in tumorigenesis and adult neurogenesis.^[5]^[6] Tuj1 and Tead2 are suggested as direct target of Sox11.^[7]^[8]^[9]

Clinical aspect

Mutations in SOX11 are associated to Coffin-Siris syndrome .^[10]

References

↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ Jay P, Gozé C, Marsollier C, Taviaux S, Hardelin JP, Koopman P, Berta P (Sep 1995). "The human SOX11 gene: cloning, chromosomal assignment and tissue expression". Genomics. 29 (2): 541–5. doi:10.1006/geno.1995.9970. PMID 8666406.
↑ Wiebe MS, Nowling TK, Rizzino A (May 2003). "Identification of novel domains within Sox-2 and Sox-11 involved in autoinhibition of DNA binding and partnership specificity". The Journal of Biological Chemistry. 278 (20): 17901–11. doi:10.1074/jbc.M212211200. PMID 12637543.
1 2 "Entrez Gene: SOX11 SRY (sex determining region Y)-box 11".
↑ Haslinger A, Schwarz TJ, Covic M, Lie DC (Jun 2009). "Expression of Sox11 in adult neurogenic niches suggests a stage-specific role in adult neurogenesis". The European Journal of Neuroscience. 29 (11): 2103–14. doi:10.1111/j.1460-9568.2009.06768.x. PMID 19490090.
↑ Bergsland M, Werme M, Malewicz M, Perlmann T, Muhr J (Dec 2006). "The establishment of neuronal properties is controlled by Sox4 and Sox11". Genes & Development. 20 (24): 3475–86. doi:10.1101/gad.403406. PMC 1698453. PMID 17182872.
↑ Bhattaram P, Penzo-Méndez A, Sock E, Colmenares C, Kaneko KJ, Vassilev A, Depamphilis ML, Wegner M, Lefebvre V (Apr 2010). "Organogenesis relies on SoxC transcription factors for the survival of neural and mesenchymal progenitors". Nature Communications. 1 (1): 9. doi:10.1038/ncomms1008. PMC 2892298. PMID 20596238.
↑ Larson BL, Ylostalo J, Lee RH, Gregory C, Prockop DJ (Nov 2010). "Sox11 is expressed in early progenitor human multipotent stromal cells and decreases with extensive expansion of the cells". Tissue Engineering. Part A. 16 (11): 3385–94. doi:10.1089/ten.tea.2010.0085. PMC 2965191. PMID 20626275.
↑ Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N (2014). "De novo SOX11 mutations cause Coffin-Siris syndrome". Nature Communications. 5: 4011. doi:10.1038/ncomms5011. PMID 24886874.

Wilson M, Koopman P (Aug 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators". Current Opinion in Genetics & Development. 12 (4): 441–6. doi:10.1016/S0959-437X(02)00323-4. PMID 12100890.
Schepers GE, Teasdale RD, Koopman P (Aug 2002). "Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families". Developmental Cell. 3 (2): 167–70. doi:10.1016/S1534-5807(02)00223-X. PMID 12194848.
Gozé C, Poulat F, Berta P (Jun 1993). "Partial cloning of SOX-11 and SOX-12, two new human SOX genes". Nucleic Acids Research. 21 (12): 2943. doi:10.1093/nar/21.12.2943. PMC 309692. PMID 8332506.
Kuhlbrodt K, Herbarth B, Sock E, Enderich J, Hermans-Borgmeyer I, Wegner M (Jun 1998). "Cooperative function of POU proteins and SOX proteins in glial cells". The Journal of Biological Chemistry. 273 (26): 16050–7. doi:10.1074/jbc.273.26.16050. PMID 9632656.
Azuma T, Ao S, Saito Y, Yano K, Seki N, Wakao H, Masuho Y, Muramatsu M (Oct 1999). "Human SOX11, an upregulated gene during the neural differentiation, has a long 3' untranslated region". DNA Research. 6 (5): 357–60. doi:10.1093/dnares/6.5.357. PMID 10574465.
Lee CJ, Appleby VJ, Orme AT, Chan WI, Scotting PJ (May 2002). "Differential expression of SOX4 and SOX11 in medulloblastoma". Journal of Neuro-Oncology. 57 (3): 201–14. doi:10.1023/A:1015773818302. PMID 12125983.
Ballif BA, Villén J, Beausoleil SA, Schwartz D, Gygi SP (Nov 2004). "Phosphoproteomic analysis of the developing mouse brain". Molecular & Cellular Proteomics. 3 (11): 1093–101. doi:10.1074/mcp.M400085-MCP200. PMID 15345747.
Bouma GJ, Albrecht KH, Washburn LL, Recknagel AK, Churchill GA, Eicher EM (Jul 2005). "Gonadal sex reversal in mutant Dax1 XY mice: a failure to upregulate Sox9 in pre-Sertoli cells". Development. 132 (13): 3045–54. doi:10.1242/dev.01890. PMID 15944188.
Thevenet L, Albrecht KH, Malki S, Berta P, Boizet-Bonhoure B, Poulat F (Nov 2005). "NHERF2/SIP-1 interacts with mouse SRY via a different mechanism than human SRY". The Journal of Biological Chemistry. 280 (46): 38625–30. doi:10.1074/jbc.M504127200. PMID 16166090.
DesGroseilliers M, Fortin F, Lemyre E, Lemieux N (2006). "Complex mosaicism in sex reversed SRY+ male twins". Cytogenetic and Genome Research. 112 (1-2): 176–9. doi:10.1159/000087532. PMID 16276109.

Transcription factors and intracellular receptors

(1) Basic domains

(1.1) Basic leucine zipper (bZIP)	Activating transcription factor AATF 1 2 3 4 5 6 7 AP-1 c-Fos FOSB FOSL1 FOSL2 JDP2 c-Jun JUNB JunD BACH 1 2 BATF BLZF1 C/EBP α β γ δ ε ζ CREB 1 3 L1 CREM DBP DDIT3 GABPA HLF MAF B F G K NFE 2 L1 L2 L3 NFIL3 NRL NRF 1 2 3 XBP1

(1.2) Basic helix-loop-helix (bHLH)	ATOH1 AhR AHRR ARNT ASCL1 BHLH 2 3 9 ARNTL ARNTL ARNTL2 CLOCK EPAS1 FIGLA HAND 1 2 HES 5 6 HEY 1 2 L HES1 HIF 1A 3A ID 1 2 3 4 LYL1 MESP2 MXD4 MYCL1 MYCN Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 Neurogenins 1 2 3 NeuroD 1 2 NPAS 1 2 3 OLIG 1 2 Pho4 Scleraxis SIM 1 2 TAL 1 2 Twist USF1

(1.3) bHLH-ZIP	AP-4 MAX MXD3 MITF MNT MLX MXI1 Myc SREBP 1 2

(1.4) NF-1	NFI A B C X SMAD R-SMAD 1 2 3 5 9 I-SMAD 6 7 4)

(1.5) RF-X	RFX 1 2 3 4 5 6 ANK

(1.6) Basic helix-span-helix (bHSH)	AP-2 α β γ δ ε

(2) Zinc finger DNA-binding domains

(2.1) Nuclear receptor (Cys₄)

subfamily 1	Thyroid hormone α β CAR FXR LXR α β PPAR α β/δ γ PXR RAR α β γ ROR α β γ Rev-ErbA α β VDR

subfamily 2	COUP-TF (I II Ear-2 HNF4 α γ PNR RXR α β γ Testicular receptor 2 4 TLX

subfamily 3	Steroid hormone Androgen Estrogen α β Glucocorticoid Mineralocorticoid Progesterone Estrogen related α β γ

subfamily 4	NUR NGFIB NOR1 NURR1

subfamily 5	LRH-1 SF1

subfamily 6	GCNF

subfamily 0	DAX1 SHP

(2.2) Other Cys₄

GATA
- 1
- 2
- 3
- 4
- 5
- 6
MTA
- 1
- 2
- 3
TRPS1

(2.3) Cys₂His₂

General transcription factors
- TFIIA
- TFIIB
- TFIID
- TFIIE
  - 1
  - 2
- TFIIF
- 1
- 2
  - TFIIH
  - 1
  - 2
  - 4
  - 2I
  - 3A
  - 3C1
  - 3C2

ATBF1
BCL
- 6
- 11A
- 11B
CTCF
E4F1
EGR
- 1
- 2
- 3
- 4
ERV3
GFI1
GLI-Krüppel family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
KLF
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
- 10
- 11
- 12
- 13
- 14
- 15
- 17
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
SP
- 1
- 2
- 4
- 7
- 8
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 32
- 33
- 40
zinc finger
- 3
- 7
- 9
- 10
- 19
- 22
- 24
- 33B
- 34
- 35
- 41
- 43
- 44
- 51
- 74
- 143
- 146
- 148
- 165
- 202
- 217
- 219
- 238
- 239
- 259
- 267
- 268
- 281
- 295
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655

(2.4) Cys₆

HIVEP1

(2.5) Alternating composition

AIRE
DIDO1
GRLF1
ING
- 1
- 2
- 4
JARID
- 1A
- 1B
- 1C
- 1D
- 2
JMJD1B

(2.6) WRKY

WRKY

(3) Helix-turn-helix domains

(3.1) Homeodomain	ARX CDX 1 2 CRX CUTL1 DBX 1 2 DLX 3 4 5 EMX 1 2 EN 1 2 FHL 1 2 3 HESX1 HHEX HLX Homeobox A1 A2 A3 A4 A5 A7 A9 A10 A11 A13 B1 B2 B3 B4 B5 B6 B7 B8 B9 B13 C4 C5 C6 C8 C9 C10 C11 C12 C13 D1 D3 D4 D8 D9 D10 D11 D12 D13 HOPX IRX 1 2 3 4 5 6 MKX LMX 1A 1B MEIS 1 2 MEOX2 MNX1 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 6-1 6-2 NOBOX PBX 1 2 3 PHF 1 3 6 8 10 16 17 20 21A PHOX 2A 2B PITX 1 2 3 POU domain PIT-1 BRN-3: A B C Octamer transcription factor: 1 2 3/4 6 7 11 OTX 1 2 PDX1 SATB2 SHOX2 SIX 1 2 3 4 5 VAX1 ZEB 1 2

(3.2) Paired box	PAX 1 2 3 4 5 6 7 8 9 PRRX 1 2 RAX

(3.3) Fork head / winged helix	E2F 1 2 3 4 5 FOX proteins A1 A2 A3 C1 C2 D3 D4 E1 E3 F1 G1 H1 I1 J1 J2 K1 K2 L2 M1 N1 N3 O1 O3 O4 P1 P2 P3 P4

(3.4) Heat shock factors	HSF 1 2 4

(3.5) Tryptophan clusters	ELF 2 4 5 EGF ELK 1 3 4 ERF ETS 1 2 ERG SPIB ETV 1 4 5 6 FLI1 Interferon regulatory factors 1 2 3 4 5 6 7 8 MYB MYBL2

(3.6) TEA domain	transcriptional enhancer factor 1 2 3 4

(4) β-Scaffold factors with minor groove contacts

(4.1) Rel homology region	NF-κB NFKB1 NFKB2 REL RELA RELB NFAT C1 C2 C3 C4 5

(4.2) STAT	STAT 1 2 3 4 5 6

(4.3) p53	p53 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF TP63

(4.4) MADS box	Mef2 A B C D SRF

(4.6) TATA-binding proteins	TBP TBPL1

(4.7) High-mobility group	BBX HMGB 1 2 3 4 HMGN 1 2 3 4 HNF 1A 1B LEF1 SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 18 21 SRY SSRP1 TCF 3 4 TOX 1 2 3 4

(4.9) Grainyhead	TFCP2

(4.10) Cold-shock domain	CSDA YBX1

(4.11) Runt	CBF CBFA2T2 CBFA2T3 RUNX1 RUNX2 RUNX3 RUNX1T1

(0) Other transcription factors

(0.2) HMGI(Y)	HMGA 1 2 HBP1

(0.3) Pocket domain	Rb RBL1 RBL2

(0.5) AP-2/EREBP-related factors	Apetala 2 EREBP B3

(0.6) Miscellaneous	ARID 1A 1B 2 3A 3B 4A CAP IFI 16 35 MLL 2 3 T1 MNDA NFY A B C Rho/Sigma

see also transcription factor/coregulator deficiencies

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SOX11

Function

Clinical aspect

See also

References

Further reading