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O94993

- SOX30_HUMAN

UniProt

O94993 - SOX30_HUMAN

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Protein

Transcription factor SOX-30

Gene

SOX30

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 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

  1. sequence-specific DNA binding Source: UniProtKB
  2. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: UniProtKB

GO - Biological processi

  1. regulation of transcription, DNA-templated Source: UniProtKB-KW
  2. regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  3. response to corticosteroid Source: UniProtKB
  4. spermatogenesis Source: Ensembl
  5. transcription, DNA-templated Source: UniProtKB-KW
  6. 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: Chromosome 5

Organism-specific databases

HGNCiHGNC:30635. SOX30.

Subcellular locationi

Nucleus 1 PublicationPROSITE-ProRule annotation

GO - Cellular componenti

  1. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134876614.

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

Protein-protein interaction databases

BioGridi116247. 13 interactions.
IntActiO94993. 12 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.
OMAiVILAQPS.
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. Align

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:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
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_008948.1. NM_007017.2. [O94993-2 ]
NP_848511.1. NM_178424.1. [O94993-1 ]
UniGenei Hs.744348.

3D structure databases

ProteinModelPortali O94993.
SMRi O94993. Positions 337-409.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116247. 13 interactions.
IntActi O94993. 12 interactions.
MINTi MINT-1439929.
STRINGi 9606.ENSP00000265007.

PTM databases

PhosphoSitei O94993.

Proteomic databases

PaxDbi O94993.
PRIDEi O94993.

Protocols and materials databases

DNASUi 11063.
Structural Biology Knowledgebase Search...

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 ]
uc003lxc.1. human. [O94993-2 ]

Organism-specific databases

CTDi 11063.
GeneCardsi GC05M157053.
H-InvDB HIX0005360.
HGNCi HGNC:30635. SOX30.
HPAi CAB009382.
HPA006159.
MIMi 606698. gene.
neXtProti NX_O94993.
PharmGKBi PA134876614.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG329829.
GeneTreei ENSGT00760000119274.
HOGENOMi HOG000070158.
HOVERGENi HBG057980.
InParanoidi O94993.
KOi K09271.
OMAi VILAQPS.
OrthoDBi EOG77HDD4.
PhylomeDBi O94993.
TreeFami TF336594.

Miscellaneous databases

ChiTaRSi SOX30. human.
GenomeRNAii 11063.
NextBioi 42041.
PROi O94993.
SOURCEi Search...

Gene expression databases

Bgeei O94993.
CleanExi HS_SOX30.
ExpressionAtlasi O94993. baseline and differential.
Genevestigatori O94993.

Family and domain databases

Gene3Di 1.10.30.10. 1 hit.
InterProi IPR009071. HMG_box_dom.
[Graphical view ]
Pfami PF00505. HMG_box. 1 hit.
[Graphical view ]
SMARTi SM00398. HMG. 1 hit.
[Graphical view ]
SUPFAMi SSF47095. SSF47095. 1 hit.
PROSITEi PS50118. HMG_BOX_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: October 29, 2014
This is version 121 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