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SOX5

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From Wikipedia, the free encyclopedia

Protein-coding gene in Homo sapiens

SOX5

Identifiers

Aliases

SOX5, L-L-SOX5B, L-SOX5F, LAMSHF, SRY-box 5, SRY-box transcription factor 5

External IDs

OMIM:604975;MGI:98367;HomoloGene:21378;GeneCards:SOX5;OMA:SOX5 - orthologs

Gene location (Human)

Chr.	Chromosome 12 (human)^[1]

Band	12p12.1	Start	23,529,504bp^[1]
Band	12p12.1	End	24,562,544bp^[1]

Gene location (Mouse)

Chr.	Chromosome 6 (mouse)^[2]

Band	6 G3\|6 76.14 cM	Start	143,828,425bp^[2]
Band	6 G3\|6 76.14 cM	End	144,781,977bp^[2]

RNA expression pattern

Bgee

Human

Mouse (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	DNA-binding transcription factor activity DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific
Cellular component	nucleus
Biological process	cellular response to transforming growth factor beta stimulus regulation of transcription, DNA-templated transcription by RNA polymerase II positive regulation of cartilage development positive regulation of chondrocyte differentiation positive regulation of mesenchymal stem cell differentiation transcription, DNA-templated asymmetric neuroblast division regulation of transcription by RNA polymerase II cell fate commitment negative regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

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 Mb

Chr 6: 143.83 – 144.78 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/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.^[7]^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000134532 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000041540 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Wunderle VM, Critcher R, Ashworth A, Goodfellow PN (September 1996). "Cloning and characterization of SOX5, a new member of the human SOX gene family".Genomics.36 (2):354–358.doi:10.1006/geno.1996.0474.PMID 8812465.
^^a ^b"Entrez Gene: SOX5 SRY (sex determining region Y)-box 5".
^Wang P, Xie H, Xiao X, Wang H, Wang Y, Liu S (June 2025)."Functional characterization of SOX5 variant causing Lamb-Shaffer syndrome and literature review of variants in the SOX5 gene".Orphanet Journal of Rare Diseases.20 (1) 300.doi:10.1186/s13023-025-03829-7.PMC 12160102.PMID 40500800.
^Zawerton A, Mignot C, Sigafoos A, Blackburn PR, Haseeb A, McWalter K, et al. (March 2020)."Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency".Genetics in Medicine.22 (3):524–537.doi:10.1038/s41436-019-0657-0.PMC 9063678.PMID 31578471.

Kamachi Y, Uchikawa M, Kondoh H (April 2000). "Pairing SOX off: with partners in the regulation of embryonic development".Trends in Genetics.16 (4):182–187.doi:10.1016/S0168-9525(99)01955-1.PMID 10729834.
Bowles J, Schepers G, Koopman P (November 2000)."Phylogeny of the SOX family of developmental transcription factors based on sequence and structural indicators".Developmental Biology.227 (2):239–255.doi:10.1006/dbio.2000.9883.PMID 11071752.
Wilson M, Koopman P (August 2002). "Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators".Current Opinion in Genetics & Development.12 (4):441–446.doi:10.1016/S0959-437X(02)00323-4.PMID 12100890.
Schepers GE, Teasdale RD, Koopman P (August 2002)."Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families".Developmental Cell.3 (2):167–170.doi:10.1016/S1534-5807(02)00223-X.PMID 12194848.
Denny P, Swift S, Brand N, Dabhade N, Barton P, Ashworth A (June 1992)."A conserved family of genes related to the testis determining gene, SRY".Nucleic Acids Research.20 (11): 2887.doi:10.1093/nar/20.11.2887.PMC 336939.PMID 1614875.
Connor F, Cary PD, Read CM, Preston NS, Driscoll PC, Denny P, et al. (August 1994)."DNA binding and bending properties of the post-meiotically expressed Sry-related protein Sox-5".Nucleic Acids Research.22 (16):3339–3346.doi:10.1093/nar/22.16.3339.PMC 523727.PMID 8078769.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides".Gene.138 (1–2):171–174.doi:10.1016/0378-1119(94)90802-8.PMID 8125298.
Bonaldo MF, Lennon G, Soares MB (September 1996)."Normalization and subtraction: two approaches to facilitate gene discovery".Genome Research.6 (9):791–806.doi:10.1101/gr.6.9.791.PMID 8889548.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library".Gene.200 (1–2):149–156.doi:10.1016/S0378-1119(97)00411-3.PMID 9373149.
Lefebvre V, Li P, de Crombrugghe B (October 1998)."A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene".The EMBO Journal.17 (19):5718–5733.doi:10.1093/emboj/17.19.5718.PMC 1170900.PMID 9755172.
Uusitalo H, Hiltunen A, Ahonen M, Gao TJ, Lefebvre V, Harley V, et al. (October 2001)."Accelerated up-regulation of L-Sox5, Sox6, and Sox9 by BMP-2 gene transfer during murine fracture healing".Journal of Bone and Mineral Research.16 (10):1837–1845.doi:10.1359/jbmr.2001.16.10.1837.PMID 11585348.S2CID 42947355.
Zafarana G, Gillis AJ, van Gurp RJ, Olsson PG, Elstrodt F, Stoop H, et al. (March 2002). "Coamplification of DAD-R, SOX5, and EKI1 in human testicular seminomas, with specific overexpression of DAD-R, correlates with reduced levels of apoptosis and earlier clinical manifestation".Cancer Research.62 (6):1822–1831.PMID 11912161.
Ikeda T, Zhang J, Chano T, Mabuchi A, Fukuda A, Kawaguchi H, et al. (September 2002). "Identification and characterization of the human long form of Sox5 (L-SOX5) gene".Gene.298 (1):59–68.doi:10.1016/S0378-1119(02)00927-7.PMID 12406576.

v t e PDB gallery
1i11: SOLUTION STRUCTURE OF THE DNA BINDING DOMAIN, SOX-5 HMG BOX FROM MOUSE

Transcription factors andintracellular receptors

(1) Basic domains

(1.1) Basicleucine 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
GCN4
HLF
MAF
- B
- sMaf
  - F
  - G
  - K
NFE
- 2
- L1
- L2
- L3
NFIL3
NRL
NRF
- 1
- 2
- 3
XBP1

(1.2) Basic helix-loop-helix (bHLH)

Group A	AS-C ASCL1 ASCL2 ATOH1 HAND 1 2 MESP2 Myogenic regulatory factors MyoD Myogenin MYF5 MYF6 NeuroD 1 2 Neurogenins 1 2 3 OLIG 1 2 Paraxis TCF15 Scleraxis SLC LYL1 TAL 1 2 Twist
Group B	FIGLA Myc c-Myc l-Myc n-Myc MXD4 TCF4
Group C bHLH-PAS	AhR AHRR ARNT ARNTL ARNTL2 CLOCK HIF 1A EPAS1 3A NPAS 1 2 3 PER 1 2 3 Period SIM 1 2
Group D	DEC 1 2 BHLHA9 Pho4 ID 1 2 3 4
Group E	HES 1 2 3 4 5 6 7 HEY 1 2 L
Group F bHLH-COE	EBF1

(1.3)bHLH-ZIP

(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 family
- 1
- 2
- 3
- REST
- S1
- S2
- YY1
HIC
- 1
- 2
HIVEP
- 1
- 2
- 3
IKZF
- 1
- 2
- 3
ILF
- 2
- 3
Sp/KLF family
- KLF
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - 7
  - 8
  - 9
  - 10
  - 11
  - 12
  - 13
  - 14
  - 15
  - 17
- SP
  - 1
  - 2
  - 4
  - 7
  - 8
MTF1
MYT1
OSR1
PRDM9
SALL
- 1
- 2
- 3
- 4
TSHZ3
WT1
Zbtb7
- 7A
- 7B
ZBTB
- 11
- 16
- 17
- 20
- 21
- 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
- 300
- 318
- 330
- 346
- 350
- 365
- 366
- 384
- 423
- 451
- 452
- 471
- 593
- 638
- 644
- 649
- 655
- 804A

(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-helixdomains

(3.1)Homeodomain

Antennapedia
ANTP class

protoHOX Hox-like	ParaHox Gsx 1 2 Xlox PDX1 Cdx 1 2 4 extended Hox:Evx1 Evx2 MEOX1 MEOX2 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 GBX1 GBX2 MNX1
metaHOX NK-like	BARHL1 BARHL2 BARX1 BARX2 BSX DBX 1 2 DLX 1 2 3 4 5 6 EMX 1 2 EN 1 2 HHEX HLX LBX1 LBX2 MSX 1 2 NANOG NKX 2-1 2-2 2-3 2-5 3-1 3-2 HMX1 HMX2 HMX3 6-1 6-2 NOTO TLX1 TLX2 TLX3 VAX1 VAX2

other

ARX
CRX
CUTL1
FHL
- 1
- 2
- 3
HESX1
HOPX
LMX
- 1A
- 1B
NOBOX
TALE
- IRX
  - 1
  - 2
  - 3
  - 4
  - 5
  - 6
  - MKX
- MEIS
  - 1
  - 2
- PBX
  - 1
  - 2
  - 3
- PKNOX
  - 1
  - 2
- SIX
  - 1
  - 2
  - 3
  - 4
  - 5
PHF
- 1
- 3
- 6
- 8
- 10
- 16
- 17
- 20
- 21A
POU domain
- PIT-1
- BRN-3:A
- B
- C
- Octamer transcription factor:1
- 2
- 3/4
- 6
- 7
- 11
SATB2
ZEB
- 1
- 2

(3.2) Paired box

PAX
- 1
- 2
- 3
- 4
- 5
- 6
- 7
- 8
- 9
PRRX
- 1
- 2
PROP1
PHOX
- 2A
- 2B
RAX
SHOX
SHOX2
VSX1
VSX2
Bicoid
- GSC
- BICD2
- OTX
  - 1
  - 2
- PITX
  - 1
  - 2
  - 3

(3.3)Fork head /winged helix

E2F
- 1
- 2
- 3
- 4
- 5
FOX proteins
- A1
- A2
- A3
- B1
- B2
- C1
- C2
- D1
- D2
- D3
- D4
- D4L1
- D4L3
- D4L4
- D4L5
- D4L6
- E1
- E3
- F1
- F2
- G1
- H1
- I1
- I2
- I3
- J1
- J2
- J3
- K1
- K2
- L1
- L2
- M1
- N1
- N2
- N3
- N4
- O1
- O3
- O4
- O6
- P1
- P2
- P3
- P4
- Q1
- R1
- R2
- S1

(3.4)Heat shock factors

HSF
- 1
- 2
- 4

(3.5) Tryptophan clusters

ELF
- 2
- 4
- 5
EHF
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-like	p53 p63 p73 family p53 TP63 p73 TBX 1 2 3 5 19 21 22 TBR1 TBR2 TFT MYRF
(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 SOX 1 2 3 4 5 6 8 9 10 11 12 13 14 15 17 18 21 SRY SSRP1 TCF/LEF TCF 1 3 4 LEF1 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 alsotranscription factor/coregulator deficiencies

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SOX5

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References

Further reading