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O94993 (SOX30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 119. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor SOX-30
Gene names
Name:SOX30
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length753 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional activator. Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif. Ref.1

Subcellular location

Nucleus Ref.1.

Tissue specificity

Expressed in testis. Ref.1

Sequence similarities

Contains 1 HMG box DNA-binding domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O94993-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O94993-2)

The sequence of this isoform differs from the canonical sequence as follows:
     463-501: GETSPAIQLP...AAQVAVQDPS → VHALTVGLPL...TQNMRVSFQL
     502-753: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 753753Transcription factor SOX-30
PRO_0000048773

Regions

DNA binding337 – 40569HMG box
Compositional bias6 – 4136Pro-rich
Compositional bias564 – 64683Pro-rich

Natural variations

Alternative sequence463 – 50139GETSP…VQDPS → VHALTVGLPLAMEIFRVQCQ NALVIMKTGTQNMRVSFQL in isoform 2.
VSP_002205
Alternative sequence502 – 753252Missing in isoform 2.
VSP_002206
Natural variant4291Q → K. Ref.2
Corresponds to variant rs12188040 [ dbSNP | Ensembl ].
VAR_049563
Natural variant7491V → M.
Corresponds to variant rs889057 [ dbSNP | Ensembl ].
VAR_024485

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 1, 1999. Version 1.
Checksum: E9BF1409EE7FE81D

FASTA75381,854
        10         20         30         40         50         60 
MERARPEPPP QPRPLRPAPP PLPVEGTSFW AAAMEPPPSS PTLSAAASAT LASSCGEAVA 

        70         80         90        100        110        120 
SGLQPAVRRL LQVKPEQVLL LPQPQAQNEE AAASSAQARL LQFRPDLRLL QPPTASDGAT 

       130        140        150        160        170        180 
SRPELHPVQP LALHVKAKKQ KLGPSLDQSV GPRGAVETGP RASRVVKLEG PGPALGYFRG 

       190        200        210        220        230        240 
DEKGKLEAEE VMRDSMQGGA GKSPAAIREG VIKTEEPERL LEDCRLGAEP ASNGLVHGSA 

       250        260        270        280        290        300 
EVILAPTSGA FGPHQQDLRI PLTLHTVPPG ARIQFQGAPP SELIRLTKVP LTPVPTKMQS 

       310        320        330        340        350        360 
LLEPSVKIET KDVPLTVLPS DAGIPDTPFS KDRNGHVKRP MNAFMVWARI HRPALAKANP 

       370        380        390        400        410        420 
AANNAEISVQ LGLEWNKLSE EQKKPYYDEA QKIKEKHREE FPGWVYQPRP GKRKRFPLSV 

       430        440        450        460        470        480 
SNVFSGTTQN IISTNPTTVY PYRSPTYSVV IPSLQNPITH PVGETSPAIQ LPTPAVQSPS 

       490        500        510        520        530        540 
PVTLFQPSVS SAAQVAVQDP SLPVYPALPP QRFTGPSQTD THQLHSEATH TVKQPTPVSL 

       550        560        570        580        590        600 
ESANRISSSA STAHARFATS TIQPPREYSS VSPCPRSAPI PQASPIPHPH VYQPPPLGHP 

       610        620        630        640        650        660 
ATLFGTPPRF SFHHPYFLPG PHYFPSSTCP YSRPPFGYGN FPSSMPECLS YYEDRYPKHE 

       670        680        690        700        710        720 
GIFSTLNRDY SFRDYSSECT HSENSRSCEN MNGTSYYNSH SHSGEENLNP VPQLDIGTLE 

       730        740        750 
NVFTAPTSTP SSIQQVNVTD SDEEEEEKVL RDL 

« Hide

Isoform 2 [UniParc].

Checksum: CA0DD5459EC45218
Show »

FASTA50154,290

References

« Hide 'large scale' references
[1]"Identification of a novel Sry-related gene and its germ cell-specific expression."
Osaki E., Nishina Y., Inazawa J., Copeland N.G., Gilbert D.J., Jenkins N.A., Ohsugi M., Tezuka T., Yoshida M., Semba K.
Nucleic Acids Res. 27:2503-2510(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, FUNCTION.
Tissue: Testis.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT LYS-429.
Tissue: Brain.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB022083 mRNA. Translation: BAA37146.1.
AB022441 mRNA. Translation: BAA37149.1.
BC033492 mRNA. Translation: AAH33492.2.
CCDSCCDS4339.1. [O94993-1]
CCDS4340.1. [O94993-2]
RefSeqNP_008948.1. NM_007017.2. [O94993-2]
NP_848511.1. NM_178424.1. [O94993-1]
UniGeneHs.744348.

3D structure databases

ProteinModelPortalO94993.
SMRO94993. Positions 337-409.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116247. 13 interactions.
IntActO94993. 12 interactions.
MINTMINT-1439929.
STRING9606.ENSP00000265007.

PTM databases

PhosphoSiteO94993.

Proteomic databases

PaxDbO94993.
PRIDEO94993.

Protocols and materials databases

DNASU11063.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000265007; ENSP00000265007; ENSG00000039600. [O94993-1]
ENST00000311371; ENSP00000309343; ENSG00000039600. [O94993-2]
GeneID11063.
KEGGhsa:11063.
UCSCuc003lxb.1. human. [O94993-1]
uc003lxc.1. human. [O94993-2]

Organism-specific databases

CTD11063.
GeneCardsGC05M157053.
H-InvDBHIX0005360.
HGNCHGNC:30635. SOX30.
HPACAB009382.
HPA006159.
MIM606698. gene.
neXtProtNX_O94993.
PharmGKBPA134876614.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG329829.
HOGENOMHOG000070158.
HOVERGENHBG057980.
InParanoidO94993.
KOK09271.
OMAVILAQPS.
OrthoDBEOG77HDD4.
PhylomeDBO94993.
TreeFamTF336594.

Gene expression databases

BgeeO94993.
CleanExHS_SOX30.
GenevestigatorO94993.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
InterProIPR009071. HMG_box_dom.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
PROSITEPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSSOX30. human.
GenomeRNAi11063.
NextBio42041.
PROO94993.
SOURCESearch...

Entry information

Entry nameSOX30_HUMAN
AccessionPrimary (citable) accession number: O94993
Secondary accession number(s): O94995, Q8IYX6
Entry history
Integrated into UniProtKB/Swiss-Prot: May 10, 2002
Last sequence update: May 1, 1999
Last modified: July 9, 2014
This is version 119 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM