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Protein

Transcription factor SOX-17

Gene

SOX17

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

Functioni

Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells (By similarity).By similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi68 – 13669HMG boxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation, Wnt signaling pathway

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

ReactomeiREACT_264178. deactivation of the beta-catenin transactivating complex.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor SOX-17
Gene namesi
Name:SOX17
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:18122. SOX17.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • nuclear transcription factor complex Source: Ensembl
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
  • transcription factor complex Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Vesicoureteral reflux 3 (VUR3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.

See also OMIM:613674
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171Q → QTQ in VUR3.
VAR_065168
Natural varianti178 – 1781G → C in VUR3. 1 Publication
VAR_065169
Natural varianti259 – 2591Y → N in VUR3; increased levels of the mutant protein that is associated with increased suppression of CTNNB1 signaling of the Wnt pathway compared to wild-type. 1 Publication
VAR_065170

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi613674. phenotype.
Orphaneti289365. Familial vesicoureteral reflux.
PharmGKBiPA38296.

Polymorphism and mutation databases

BioMutaiSOX17.
DMDMi23822216.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 414414Transcription factor SOX-17PRO_0000048765Add
BLAST

Proteomic databases

PaxDbiQ9H6I2.
PRIDEiQ9H6I2.

PTM databases

PhosphoSiteiQ9H6I2.

Expressioni

Tissue specificityi

Expressed in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In normal gastrointestinal tract, it is preferentially expressed in esophagus, stomach and small intestine than in colon and rectum.1 Publication

Gene expression databases

BgeeiQ9H6I2.
CleanExiHS_SOX17.
GenevisibleiQ9H6I2. HS.

Organism-specific databases

HPAiCAB025594.

Interactioni

Subunit structurei

Interacts with CTNNB1, LEF1 and TCF4.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
CTNNB1P352222EBI-9106753,EBI-491549

Protein-protein interaction databases

IntActiQ9H6I2. 2 interactions.
STRINGi9606.ENSP00000297316.

Structurei

Secondary structure

1
414
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi74 – 8714Combined sources
Helixi95 – 10814Combined sources
Helixi111 – 12919Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YULNMR-A68-136[»]
4A3NX-ray2.40A68-136[»]
ProteinModelPortaliQ9H6I2.
SMRiQ9H6I2. Positions 68-141.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H6I2.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini280 – 413134Sox C-terminalPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi312 – 35140Gln/Pro-richAdd
BLAST

Sequence similaritiesi

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

Phylogenomic databases

eggNOGiNOG242943.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000069999.
HOVERGENiHBG000517.
InParanoidiQ9H6I2.
KOiK04495.
OMAiHMYYGAM.
OrthoDBiEOG7Z3F4W.
PhylomeDBiQ9H6I2.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR021934. Sox_C_TAD.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12067. Sox_C_TAD. 2 hits.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
PS51516. SOX_C. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9H6I2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSSPDAGYAS DDQSQTQSAL PAVMAGLGPC PWAESLSPIG DMKVKGEAPA
60 70 80 90 100
NSGAPAGAAG RAKGESRIRR PMNAFMVWAK DERKRLAQQN PDLHNAELSK
110 120 130 140 150
MLGKSWKALT LAEKRPFVEE AERLRVQHMQ DHPNYKYRPR RRKQVKRLKR
160 170 180 190 200
VEGGFLHGLA EPQAAALGPE GGRVAMDGLG LQFPEQGFPA GPPLLPPHMG
210 220 230 240 250
GHYRDCQSLG APPLDGYPLP TPDTSPLDGV DPDPAFFAAP MPGDCPAAGT
260 270 280 290 300
YSYAQVSDYA GPPEPPAGPM HPRLGPEPAG PSIPGLLAPP SALHVYYGAM
310 320 330 340 350
GSPGAGGGRG FQMQPQHQHQ HQHQHHPPGP GQPSPPPEAL PCRDGTDPSQ
360 370 380 390 400
PAELLGEVDR TEFEQYLHFV CKPEMGLPYQ GHDSGVNLPD SHGAISSVVS
410
DASSAVYYCN YPDV
Length:414
Mass (Da):44,117
Last modified:March 1, 2001 - v1
Checksum:iC78D1F24BA00ECD1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171Q → QTQ in VUR3.
VAR_065168
Natural varianti178 – 1781G → C in VUR3. 1 Publication
VAR_065169
Natural varianti259 – 2591Y → N in VUR3; increased levels of the mutant protein that is associated with increased suppression of CTNNB1 signaling of the Wnt pathway compared to wild-type. 1 Publication
VAR_065170

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073988 mRNA. Translation: BAB83867.1.
AK025905 mRNA. Translation: BAB15277.1.
CCDSiCCDS6159.1.
RefSeqiNP_071899.1. NM_022454.3.
UniGeneiHs.98367.

Genome annotation databases

EnsembliENST00000297316; ENSP00000297316; ENSG00000164736.
GeneIDi64321.
KEGGihsa:64321.
UCSCiuc003xsb.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB073988 mRNA. Translation: BAB83867.1.
AK025905 mRNA. Translation: BAB15277.1.
CCDSiCCDS6159.1.
RefSeqiNP_071899.1. NM_022454.3.
UniGeneiHs.98367.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2YULNMR-A68-136[»]
4A3NX-ray2.40A68-136[»]
ProteinModelPortaliQ9H6I2.
SMRiQ9H6I2. Positions 68-141.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiQ9H6I2. 2 interactions.
STRINGi9606.ENSP00000297316.

PTM databases

PhosphoSiteiQ9H6I2.

Polymorphism and mutation databases

BioMutaiSOX17.
DMDMi23822216.

Proteomic databases

PaxDbiQ9H6I2.
PRIDEiQ9H6I2.

Protocols and materials databases

DNASUi64321.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297316; ENSP00000297316; ENSG00000164736.
GeneIDi64321.
KEGGihsa:64321.
UCSCiuc003xsb.4. human.

Organism-specific databases

CTDi64321.
GeneCardsiGC08P055370.
H-InvDBHIX0034521.
HGNCiHGNC:18122. SOX17.
HPAiCAB025594.
MIMi610928. gene.
613674. phenotype.
neXtProtiNX_Q9H6I2.
Orphaneti289365. Familial vesicoureteral reflux.
PharmGKBiPA38296.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG242943.
GeneTreeiENSGT00760000118988.
HOGENOMiHOG000069999.
HOVERGENiHBG000517.
InParanoidiQ9H6I2.
KOiK04495.
OMAiHMYYGAM.
OrthoDBiEOG7Z3F4W.
PhylomeDBiQ9H6I2.

Enzyme and pathway databases

ReactomeiREACT_264178. deactivation of the beta-catenin transactivating complex.

Miscellaneous databases

EvolutionaryTraceiQ9H6I2.
GenomeRNAii64321.
NextBioi66237.
PROiQ9H6I2.
SOURCEiSearch...

Gene expression databases

BgeeiQ9H6I2.
CleanExiHS_SOX17.
GenevisibleiQ9H6I2. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
InterProiIPR009071. HMG_box_dom.
IPR021934. Sox_C_TAD.
[Graphical view]
PfamiPF00505. HMG_box. 1 hit.
PF12067. Sox_C_TAD. 2 hits.
[Graphical view]
SMARTiSM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
PROSITEiPS50118. HMG_BOX_2. 1 hit.
PS51516. SOX_C. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning and characterization of human SOX17."
    Katoh M.
    Int. J. Mol. Med. 9:153-157(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Solution structure of the HMG box of human transcription factor SOX-17."
    RIKEN structural genomics initiative (RSGI)
    Submitted (APR-2008) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 62-139.
  4. Cited for: VARIANTS VUR3 17-GLN--GLN-19 INS; CYS-178 AND ASN-259.

Entry informationi

Entry nameiSOX17_HUMAN
AccessioniPrimary (citable) accession number: Q9H6I2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 10, 2002
Last sequence update: March 1, 2001
Last modified: July 22, 2015
This is version 119 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. 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.