O94993 (SOX30_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transcription factor SOX-30

Gene names

Name:

SOX30

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	753 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Ligand	DNA-binding
Molecular function	Activator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW response to corticosteroid stimulus Inferred from expression pattern PubMed 18436822. Source: UniProtKB spermatogenesis Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Inferred from direct assay Ref.1. Source: UniProtKB
Molecular_function	sequence-specific DNA binding Inferred from direct assay Ref.1. Source: UniProtKB sequence-specific DNA binding RNA polymerase II transcription factor activity Inferred from direct assay Ref.1. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 753	753	Transcription factor SOX-30		PRO_0000048773
Regions
	DNA binding	337 – 405	69	HMG box
	Compositional bias	6 – 41	36	Pro-rich
	Compositional bias	564 – 646	83	Pro-rich
Natural variations
	Alternative sequence	463 – 501	39	GETSP…VQDPS → VHALTVGLPLAMEIFRVQCQ NALVIMKTGTQNMRVSFQL in isoform 2.		VSP_002205
	Alternative sequence	502 – 753	252	Missing in isoform 2.		VSP_002206
	Natural variant	429	1	Q → K. Ref.2 Corresponds to variant rs12188040 [ dbSNP | Ensembl ].		VAR_049563
	Natural variant	749	1	V → M. Corresponds to variant rs889057 [ dbSNP | Ensembl ].		VAR_024485

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: E9BF1409EE7FE81D	FASTA	753	81,854
	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
	Isoform 2 [UniParc]. Checksum: CA0DD5459EC45218	FASTA	501	54,290
	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 PVVHALTVGL PLAMEIFRVQ 490 500 CQNALVIMKT GTQNMRVSFQ L

References

	« Hide 'large scale' referencesShow '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.
IPI	IPI00016680. IPI00220989.
RefSeq	NP_008948.1. NM_007017.2. NP_848511.1. NM_178424.1.
UniGene	Hs.529462.
3D structure databases
ProteinModelPortal	O94993.
ModBase	Search...
Protein-protein interaction databases
IntAct	O94993. 11 interactions.
MINT	MINT-1439929.
STRING	9606.ENSP00000265007.
PTM databases
PhosphoSite	O94993.
Proteomic databases
PaxDb	O94993.
PRIDE	O94993.
Protocols and materials databases
DNASU	11063.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000265007; ENSP00000265007; ENSG00000039600. ENST00000311371; ENSP00000309343; ENSG00000039600.
GeneID	11063.
KEGG	hsa:11063.
UCSC	uc003lxb.1. human. uc003lxc.1. human.
Organism-specific databases
CTD	11063.
GeneCards	GC05M157053.
H-InvDB	HIX0005360.
HGNC	HGNC:30635. SOX30.
HPA	CAB009382. HPA006159.
MIM	606698. gene.
neXtProt	NX_O94993.
PharmGKB	PA134876614.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG329829.
HOGENOM	HOG000070158.
HOVERGEN	HBG057980.
InParanoid	O94993.
KO	K09271.
OMA	VPQLDIG.
OrthoDB	EOG4CVG6C.
PhylomeDB	O94993.
Gene expression databases
ArrayExpress	O94993.
Bgee	O94993.
CleanEx	HS_SOX30.
Genevestigator	O94993.
GermOnline	ENSG00000039600. Homo sapiens.
Family and domain databases
Gene3D	1.10.30.10. 1 hit.
InterPro	IPR009071. HMG_box_dom. [Graphical view]
Pfam	PF00505. HMG_box. 1 hit. [Graphical view]
SMART	SM00398. HMG. 1 hit. [Graphical view]
SUPFAM	SSF47095. HMG-box. 1 hit.
PROSITE	PS50118. HMG_BOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	SOX30. human.
GenomeRNAi	11063.
NextBio	42041.
SOURCE	Search...

Entry information

Entry name

SOX30_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 109 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.