UniProtKB - O94993 (SOX30_HUMAN)
Protein
Transcription factor SOX-30
Gene
SOX30
Organism
Homo sapiens (Human)
Status
Functioni
Acts as both a transcriptional activator and repressor (PubMed:10359848, PubMed:29739711). Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif (PubMed:10359848). Binds to its own promoter and activates its own transcription (By similarity). Required to activate the expression of postmeiotic genes involved in spermiogenesis (By similarity). Binds to the promoter region of CTNNB1 and represses its transcription which leads to inhibition of Wnt signaling (PubMed:29739711). Also inhibits Wnt signaling by binding to the CTNNB1 protein, preventing interaction of CTNNB1 with TCF7L2/TCF4 (PubMed:29739711).By similarity2 Publications
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 337 – 405 | HMG boxPROSITE-ProRule annotationAdd BLAST | 69 |
GO - Molecular functioni
- beta-catenin binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: UniProtKB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: UniProtKB
- sequence-specific DNA binding Source: UniProtKB
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- negative regulation of Wnt signaling pathway Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- proacrosomal vesicle fusion Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: UniProtKB
- response to corticosteroid Source: UniProtKB
- spermatid development Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding, Repressor |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O94993 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor SOX-30 |
Gene namesi | Name:SOX30 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000039600.10 |
HGNCi | HGNC:30635, SOX30 |
MIMi | 606698, gene |
neXtProti | NX_O94993 |
Subcellular locationi
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleus Source: UniProtKB
Other locations
- chromocenter Source: UniProtKB
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 11063 |
OpenTargetsi | ENSG00000039600 |
PharmGKBi | PA134876614 |
Miscellaneous databases
Pharosi | O94993, Tbio |
Polymorphism and mutation databases
BioMutai | SOX30 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000048773 | 1 – 753 | Transcription factor SOX-30Add BLAST | 753 |
Proteomic databases
MassIVEi | O94993 |
PaxDbi | O94993 |
PeptideAtlasi | O94993 |
PRIDEi | O94993 |
ProteomicsDBi | 50621 [O94993-1] 50622 [O94993-2] |
PTM databases
iPTMneti | O94993 |
PhosphoSitePlusi | O94993 |
Expressioni
Gene expression databases
Bgeei | ENSG00000039600, Expressed in right testis and 84 other tissues |
ExpressionAtlasi | O94993, baseline and differential |
Genevisiblei | O94993, HS |
Organism-specific databases
HPAi | ENSG00000039600, Tissue enriched (testis) |
Interactioni
Subunit structurei
Interacts with CTNNB1, competitively inhibiting CTNNB1-TCF7L2/TCF4 interaction.
1 PublicationBinary interactionsi
Hide detailsO94993
With | #Exp. | IntAct |
---|---|---|
AHCYL1 [O43865] | 3 | EBI-742973,EBI-2371423 |
CFAP206 [Q8IYR0] | 4 | EBI-742973,EBI-749051 |
FHL2 [Q14192] | 3 | EBI-742973,EBI-701903 |
FLI1 [Q01543] | 3 | EBI-742973,EBI-2271018 |
GO - Molecular functioni
- beta-catenin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 116247, 19 interactors |
IntActi | O94993, 15 interactors |
MINTi | O94993 |
STRINGi | 9606.ENSP00000265007 |
Miscellaneous databases
RNActi | O94993, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 6 – 41 | Pro-richAdd BLAST | 36 | |
Compositional biasi | 564 – 646 | Pro-richAdd BLAST | 83 |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000161042 |
HOGENOMi | CLU_543964_0_0_1 |
InParanoidi | O94993 |
OMAi | FIPSPAY |
OrthoDBi | 369754at2759 |
PhylomeDBi | O94993 |
TreeFami | TF336594 |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: O94993-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MERARPEPPP QPRPLRPAPP PLPVEGTSFW AAAMEPPPSS PTLSAAASAT
60 70 80 90 100
LASSCGEAVA SGLQPAVRRL LQVKPEQVLL LPQPQAQNEE AAASSAQARL
110 120 130 140 150
LQFRPDLRLL QPPTASDGAT SRPELHPVQP LALHVKAKKQ KLGPSLDQSV
160 170 180 190 200
GPRGAVETGP RASRVVKLEG PGPALGYFRG DEKGKLEAEE VMRDSMQGGA
210 220 230 240 250
GKSPAAIREG VIKTEEPERL LEDCRLGAEP ASNGLVHGSA EVILAPTSGA
260 270 280 290 300
FGPHQQDLRI PLTLHTVPPG ARIQFQGAPP SELIRLTKVP LTPVPTKMQS
310 320 330 340 350
LLEPSVKIET KDVPLTVLPS DAGIPDTPFS KDRNGHVKRP MNAFMVWARI
360 370 380 390 400
HRPALAKANP AANNAEISVQ LGLEWNKLSE EQKKPYYDEA QKIKEKHREE
410 420 430 440 450
FPGWVYQPRP GKRKRFPLSV SNVFSGTTQN IISTNPTTVY PYRSPTYSVV
460 470 480 490 500
IPSLQNPITH PVGETSPAIQ LPTPAVQSPS PVTLFQPSVS SAAQVAVQDP
510 520 530 540 550
SLPVYPALPP QRFTGPSQTD THQLHSEATH TVKQPTPVSL ESANRISSSA
560 570 580 590 600
STAHARFATS TIQPPREYSS VSPCPRSAPI PQASPIPHPH VYQPPPLGHP
610 620 630 640 650
ATLFGTPPRF SFHHPYFLPG PHYFPSSTCP YSRPPFGYGN FPSSMPECLS
660 670 680 690 700
YYEDRYPKHE GIFSTLNRDY SFRDYSSECT HSENSRSCEN MNGTSYYNSH
710 720 730 740 750
SHSGEENLNP VPQLDIGTLE NVFTAPTSTP SSIQQVNVTD SDEEEEEKVL
RDL
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketB4DXW7 | B4DXW7_HUMAN | Transcription factor SOX-30 | SOX30 | 448 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049563 | 429 | Q → K1 PublicationCorresponds to variant dbSNP:rs12188040Ensembl. | 1 | |
Natural variantiVAR_024485 | 749 | V → M. Corresponds to variant dbSNP:rs889057Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_002205 | 463 – 501 | GETSP…VQDPS → VHALTVGLPLAMEIFRVQCQ NALVIMKTGTQNMRVSFQL in isoform 2. 1 PublicationAdd BLAST | 39 | |
Alternative sequenceiVSP_002206 | 502 – 753 | Missing in isoform 2. 1 PublicationAdd BLAST | 252 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB022083 mRNA Translation: BAA37146.1 AB022441 mRNA Translation: BAA37149.1 BC033492 mRNA Translation: AAH33492.2 |
CCDSi | CCDS4339.1 [O94993-1] CCDS4340.1 [O94993-2] |
RefSeqi | NP_001295094.1, NM_001308165.1 NP_008948.1, NM_007017.2 [O94993-2] NP_848511.1, NM_178424.1 [O94993-1] |
Genome annotation databases
Ensembli | ENST00000265007; ENSP00000265007; ENSG00000039600 [O94993-1] ENST00000311371; ENSP00000309343; ENSG00000039600 [O94993-2] |
GeneIDi | 11063 |
KEGGi | hsa:11063 |
UCSCi | uc003lxb.1, human [O94993-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB022083 mRNA Translation: BAA37146.1 AB022441 mRNA Translation: BAA37149.1 BC033492 mRNA Translation: AAH33492.2 |
CCDSi | CCDS4339.1 [O94993-1] CCDS4340.1 [O94993-2] |
RefSeqi | NP_001295094.1, NM_001308165.1 NP_008948.1, NM_007017.2 [O94993-2] NP_848511.1, NM_178424.1 [O94993-1] |
3D structure databases
SMRi | O94993 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 116247, 19 interactors |
IntActi | O94993, 15 interactors |
MINTi | O94993 |
STRINGi | 9606.ENSP00000265007 |
PTM databases
iPTMneti | O94993 |
PhosphoSitePlusi | O94993 |
Polymorphism and mutation databases
BioMutai | SOX30 |
Proteomic databases
MassIVEi | O94993 |
PaxDbi | O94993 |
PeptideAtlasi | O94993 |
PRIDEi | O94993 |
ProteomicsDBi | 50621 [O94993-1] 50622 [O94993-2] |
Protocols and materials databases
Antibodypediai | 1746, 209 antibodies |
DNASUi | 11063 |
Genome annotation databases
Ensembli | ENST00000265007; ENSP00000265007; ENSG00000039600 [O94993-1] ENST00000311371; ENSP00000309343; ENSG00000039600 [O94993-2] |
GeneIDi | 11063 |
KEGGi | hsa:11063 |
UCSCi | uc003lxb.1, human [O94993-1] |
Organism-specific databases
CTDi | 11063 |
DisGeNETi | 11063 |
EuPathDBi | HostDB:ENSG00000039600.10 |
GeneCardsi | SOX30 |
HGNCi | HGNC:30635, SOX30 |
HPAi | ENSG00000039600, Tissue enriched (testis) |
MIMi | 606698, gene |
neXtProti | NX_O94993 |
OpenTargetsi | ENSG00000039600 |
PharmGKBi | PA134876614 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0527, Eukaryota |
GeneTreei | ENSGT00940000161042 |
HOGENOMi | CLU_543964_0_0_1 |
InParanoidi | O94993 |
OMAi | FIPSPAY |
OrthoDBi | 369754at2759 |
PhylomeDBi | O94993 |
TreeFami | TF336594 |
Enzyme and pathway databases
PathwayCommonsi | O94993 |
Miscellaneous databases
BioGRID-ORCSi | 11063, 15 hits in 865 CRISPR screens |
ChiTaRSi | SOX30, human |
GenomeRNAii | 11063 |
Pharosi | O94993, Tbio |
PROi | PR:O94993 |
RNActi | O94993, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000039600, Expressed in right testis and 84 other tissues |
ExpressionAtlasi | O94993, baseline and differential |
Genevisiblei | O94993, HS |
Family and domain databases
Gene3Di | 1.10.30.10, 1 hit |
InterProi | View protein in InterPro IPR009071, HMG_box_dom IPR036910, HMG_box_dom_sf |
Pfami | View protein in Pfam PF00505, HMG_box, 1 hit |
SMARTi | View protein in SMART SM00398, HMG, 1 hit |
SUPFAMi | SSF47095, SSF47095, 1 hit |
PROSITEi | View protein in PROSITE PS50118, HMG_BOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SOX30_HUMAN | |
Accessioni | O94993Primary (citable) accession number: O94993 Secondary accession number(s): O94995, Q8IYX6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 10, 2002 |
Last sequence update: | May 1, 1999 | |
Last modified: | December 2, 2020 | |
This is version 163 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations