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Protein

Transcription factor SOX-30

Gene

SOX30

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi337 – 40569HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  • sequence-specific DNA binding Source: UniProtKB
  • sequence-specific DNA binding RNA polymerase II transcription factor activity Source: UniProtKB

GO - Biological processi

  • regulation of transcription, DNA-templated Source: UniProtKB-KW
  • regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • response to corticosteroid Source: UniProtKB
  • spermatogenesis Source: Ensembl
  • transcription, DNA-templated Source: UniProtKB-KW
  • transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-30
Gene namesi
Name:SOX30
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:30635. SOX30.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134876614.

Polymorphism and mutation databases

BioMutaiSOX30.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 753753Transcription factor SOX-30PRO_0000048773Add
BLAST

Proteomic databases

PaxDbiO94993.
PRIDEiO94993.

PTM databases

PhosphoSiteiO94993.

Expressioni

Tissue specificityi

Expressed in testis.1 Publication

Gene expression databases

BgeeiO94993.
CleanExiHS_SOX30.
ExpressionAtlasiO94993. baseline and differential.
GenevestigatoriO94993.

Organism-specific databases

HPAiCAB009382.
HPA006159.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
AHCYL1O438653EBI-742973,EBI-2371423
C6orf165Q8IYR04EBI-742973,EBI-749051
FLI1Q015433EBI-742973,EBI-2271018

Protein-protein interaction databases

BioGridi116247. 16 interactions.
IntActiO94993. 14 interactions.
MINTiMINT-1439929.
STRINGi9606.ENSP00000265007.

Structurei

3D structure databases

ProteinModelPortaliO94993.
SMRiO94993. Positions 337-409.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi6 – 4136Pro-richAdd
BLAST
Compositional biasi564 – 64683Pro-richAdd
BLAST

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG329829.
GeneTreeiENSGT00760000119274.
HOGENOMiHOG000070158.
HOVERGENiHBG057980.
InParanoidiO94993.
KOiK09271.
OMAiHVKAEKQ.
OrthoDBiEOG77HDD4.
PhylomeDBiO94993.
TreeFamiTF336594.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O94993-1) [UniParc]FASTAAdd to basket

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.

« Hide

        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
Length:753
Mass (Da):81,854
Last modified:May 1, 1999 - v1
Checksum:iE9BF1409EE7FE81D
GO
Isoform 2 (identifier: O94993-2) [UniParc]FASTAAdd to basket

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

Show »
Length:501
Mass (Da):54,290
Checksum:iCA0DD5459EC45218
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti429 – 4291Q → K.1 Publication
Corresponds to variant rs12188040 [ dbSNP | Ensembl ].
VAR_049563
Natural varianti749 – 7491V → M.
Corresponds to variant rs889057 [ dbSNP | Ensembl ].
VAR_024485

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei463 – 50139GETSP…VQDPS → VHALTVGLPLAMEIFRVQCQ NALVIMKTGTQNMRVSFQL in isoform 2. 1 PublicationVSP_002205Add
BLAST
Alternative sequencei502 – 753252Missing in isoform 2. 1 PublicationVSP_002206Add
BLAST

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.
CCDSiCCDS4339.1. [O94993-1]
CCDS4340.1. [O94993-2]
RefSeqiNP_008948.1. NM_007017.2. [O94993-2]
NP_848511.1. NM_178424.1. [O94993-1]
UniGeneiHs.744348.

Genome annotation databases

EnsembliENST00000265007; ENSP00000265007; ENSG00000039600. [O94993-1]
ENST00000311371; ENSP00000309343; ENSG00000039600. [O94993-2]
GeneIDi11063.
KEGGihsa:11063.
UCSCiuc003lxb.1. human. [O94993-1]
uc003lxc.1. human. [O94993-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS4339.1. [O94993-1]
CCDS4340.1. [O94993-2]
RefSeqiNP_008948.1. NM_007017.2. [O94993-2]
NP_848511.1. NM_178424.1. [O94993-1]
UniGeneiHs.744348.

3D structure databases

ProteinModelPortaliO94993.
SMRiO94993. Positions 337-409.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116247. 16 interactions.
IntActiO94993. 14 interactions.
MINTiMINT-1439929.
STRINGi9606.ENSP00000265007.

PTM databases

PhosphoSiteiO94993.

Polymorphism and mutation databases

BioMutaiSOX30.

Proteomic databases

PaxDbiO94993.
PRIDEiO94993.

Protocols and materials databases

DNASUi11063.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265007; ENSP00000265007; ENSG00000039600. [O94993-1]
ENST00000311371; ENSP00000309343; ENSG00000039600. [O94993-2]
GeneIDi11063.
KEGGihsa:11063.
UCSCiuc003lxb.1. human. [O94993-1]
uc003lxc.1. human. [O94993-2]

Organism-specific databases

CTDi11063.
GeneCardsiGC05M157053.
H-InvDBHIX0005360.
HGNCiHGNC:30635. SOX30.
HPAiCAB009382.
HPA006159.
MIMi606698. gene.
neXtProtiNX_O94993.
PharmGKBiPA134876614.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG329829.
GeneTreeiENSGT00760000119274.
HOGENOMiHOG000070158.
HOVERGENiHBG057980.
InParanoidiO94993.
KOiK09271.
OMAiHVKAEKQ.
OrthoDBiEOG77HDD4.
PhylomeDBiO94993.
TreeFamiTF336594.

Miscellaneous databases

ChiTaRSiSOX30. human.
GenomeRNAii11063.
NextBioi42041.
PROiO94993.
SOURCEiSearch...

Gene expression databases

BgeeiO94993.
CleanExiHS_SOX30.
ExpressionAtlasiO94993. baseline and differential.
GenevestigatoriO94993.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.

Entry informationi

Entry nameiSOX30_HUMAN
AccessioniPrimary (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: April 29, 2015
This is version 124 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.