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Protein

Calcium-responsive transactivator

Gene

SS18L1

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

Functioni

Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, Chromatin regulator
Biological processTranscription, Transcription regulation
LigandCalcium

Enzyme and pathway databases

SIGNORiO75177

Names & Taxonomyi

Protein namesi
Recommended name:
Calcium-responsive transactivator
Alternative name(s):
SS18-like protein 1
SYT homolog 1
Gene namesi
Name:SS18L1
Synonyms:CREST, KIAA0693
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000184402.14
HGNCiHGNC:15592 SS18L1
MIMi606472 gene
neXtProtiNX_O75177

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Centromere, Chromosome, Kinetochore, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi26039
OpenTargetsiENSG00000184402
PharmGKBiPA37989

Polymorphism and mutation databases

BioMutaiSS18L1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001818251 – 396Calcium-responsive transactivatorAdd BLAST396

Proteomic databases

EPDiO75177
MaxQBiO75177
PaxDbiO75177
PeptideAtlasiO75177
PRIDEiO75177
ProteomicsDBi49845
49846 [O75177-2]
49847 [O75177-3]
49848 [O75177-4]
49849 [O75177-5]

PTM databases

iPTMnetiO75177
PhosphoSitePlusiO75177

Expressioni

Tissue specificityi

Ubiquitous; with lowest levels in spleen.

Gene expression databases

BgeeiENSG00000184402 Expressed in 233 organ(s), highest expression level in forebrain
CleanExiHS_SS18L1
ExpressionAtlasiO75177 baseline and differential
GenevisibleiO75177 HS

Organism-specific databases

HPAiCAB011827
HPA059046

Interactioni

Subunit structurei

Homodimer. Dimerization may be necessary for its function in neuronal dendritic development. Interacts (via C-terminus) with CREBBP (via N-terminus), EP300 and SMARCA4/BRG1. Interacts with the nBAF complex. Association with CREBBP facilitates transcription while the association with SMARCA4/BRG1 suppresses CREST-mediated transcription in resting neurons (By similarity).By similarity

Binary interactionsi

Protein-protein interaction databases

BioGridi117505, 42 interactors
IntActiO75177, 27 interactors
MINTiO75177
STRINGi9606.ENSP00000333012

Structurei

3D structure databases

ProteinModelPortaliO75177
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 148N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1By similarityAdd BLAST148
Regioni149 – 232Methionine-rich intra-molecular domainBy similarityAdd BLAST84
Regioni246 – 317MFD domainBy similarityAdd BLAST72
Regioni334 – 396Necessary for nuclear localizationBy similarityAdd BLAST63
Regioni387 – 396Necessary for interaction with CREBBP and for the recruitment of CREBBP to the nuclear bodiesBy similarity10

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi50 – 53SH2-bindingSequence analysis4
Motifi353 – 356SH2-bindingSequence analysis4
Motifi371 – 379SH3-bindingSequence analysis9
Motifi391 – 394SH2-bindingSequence analysis4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi190 – 396Gln-richAdd BLAST207

Domaini

The MFD (multi-functional domain) domain is involved in transcription transactivation, nuclear body targeting and dimerization.By similarity

Sequence similaritiesi

Belongs to the SS18 family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG3227 Eukaryota
ENOG41128HA LUCA
GeneTreeiENSGT00500000044808
HOVERGENiHBG003892
InParanoidiO75177
OMAiQYMGQEE
OrthoDBiEOG091G0O10
PhylomeDBiO75177
TreeFamiTF330999

Family and domain databases

InterProiView protein in InterPro
IPR007726 SS18_fam
PfamiView protein in Pfam
PF05030 SSXT, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75177-1) [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
MSVAFASARP RGKGEVTQQT IQKMLDENHH LIQCILEYQS KGKTAECTQY
60 70 80 90 100
QQILHRNLVY LATIADSNQN MQSLLPAPPT QNMNLGPGAL TQSGSSQGLH
110 120 130 140 150
SQGSLSDAIS TGLPPSSLLQ GQIGNGPSHV SMQQTAPNTL PTTSMSISGP
160 170 180 190 200
GYSHAGPASQ GVPMQGQGTI GNYVSRTNIN MQSNPVSMMQ QQAATSHYSS
210 220 230 240 250
AQGGSQHYQG QSSIAMMGQG SQGSSMMGQR PMAPYRPSQQ GSSQQYLGQE
260 270 280 290 300
EYYGEQYSHS QGAAEPMGQQ YYPDGHGDYA YQQSSYTEQS YDRSFEESTQ
310 320 330 340 350
HYYEGGNSQY SQQQAGYQQG AAQQQTYSQQ QYPSQQSYPG QQQGYGSAQG
360 370 380 390
APSQYPGYQQ GQGQQYGSYR APQTAPSAQQ QRPYGYEQGQ YGNYQQ
Length:396
Mass (Da):42,990
Last modified:January 31, 2002 - v2
Checksum:iB76B7D61C7DF5592
GO
Isoform 2 (identifier: O75177-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MSVAFASARPRGKGEVTQQTIQK → M

Show »
Length:374
Mass (Da):40,649
Checksum:i365CA60BB485F174
GO
Isoform 3 (identifier: O75177-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-82: Missing.

Show »
Length:314
Mass (Da):33,767
Checksum:iC39CE9C4D11202ED
GO
Isoform 4 (identifier: O75177-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-131: Missing.

Show »
Length:265
Mass (Da):29,056
Checksum:iD35D21D42D2235A9
GO
Isoform 5 (identifier: O75177-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MSVAFASARP...SKGKTAECTQ → MQSLSTEARY...ICPRSPPARR

Show »
Length:399
Mass (Da):43,408
Checksum:i1136A7C72AE9C53F
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q9BR54Q9BR54_HUMAN
Calcium-responsive transactivator
SS18L1
128Annotation score:
H0YDW4H0YDW4_HUMAN
Calcium-responsive transactivator
SS18L1
211Annotation score:

Sequence cautioni

The sequence BAA31668 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti128S → G in CAE45918 (PubMed:11230166).Curated1
Sequence conflicti139T → S in BAF84174 (PubMed:14702039).Curated1
Sequence conflicti143T → A in BAG54230 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062534189M → I1 PublicationCorresponds to variant dbSNP:rs17853304Ensembl.1
Natural variantiVAR_053691321A → T. Corresponds to variant dbSNP:rs36106901Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0386971 – 131Missing in isoform 4. 1 PublicationAdd BLAST131
Alternative sequenceiVSP_0386981 – 82Missing in isoform 3. 1 PublicationAdd BLAST82
Alternative sequenceiVSP_0386991 – 49MSVAF…AECTQ → MQSLSTEARYVPRVPQHRDQ ISPRSPQHGGQICPRSPLHR GQICPRSPPARR in isoform 5. 1 PublicationAdd BLAST49
Alternative sequenceiVSP_0387001 – 23MSVAF…QTIQK → M in isoform 2. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014593 mRNA Translation: BAA31668.1 Different initiation.
BX640848 mRNA Translation: CAE45918.1
AY203931 mRNA Translation: AAP34454.1
AK125656 mRNA Translation: BAG54230.1
AK291485 mRNA Translation: BAF84174.1
AL078633 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75393.1
CH471077 Genomic DNA Translation: EAW75392.1
CH471077 Genomic DNA Translation: EAW75395.1
BC034494 mRNA Translation: AAH34494.1
BC068993 mRNA Translation: AAH68993.1
CCDSiCCDS13491.1 [O75177-1]
RefSeqiNP_001288707.1, NM_001301778.1 [O75177-4]
NP_945173.1, NM_198935.2 [O75177-1]
XP_005260448.1, XM_005260391.1 [O75177-2]
XP_011527066.1, XM_011528764.2 [O75177-2]
XP_011527069.1, XM_011528767.1 [O75177-5]
UniGeneiHs.154429

Genome annotation databases

EnsembliENST00000331758; ENSP00000333012; ENSG00000184402 [O75177-1]
ENST00000370848; ENSP00000359885; ENSG00000184402 [O75177-3]
GeneIDi26039
KEGGihsa:26039
UCSCiuc002ycb.4 human [O75177-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB014593 mRNA Translation: BAA31668.1 Different initiation.
BX640848 mRNA Translation: CAE45918.1
AY203931 mRNA Translation: AAP34454.1
AK125656 mRNA Translation: BAG54230.1
AK291485 mRNA Translation: BAF84174.1
AL078633 Genomic DNA No translation available.
CH471077 Genomic DNA Translation: EAW75393.1
CH471077 Genomic DNA Translation: EAW75392.1
CH471077 Genomic DNA Translation: EAW75395.1
BC034494 mRNA Translation: AAH34494.1
BC068993 mRNA Translation: AAH68993.1
CCDSiCCDS13491.1 [O75177-1]
RefSeqiNP_001288707.1, NM_001301778.1 [O75177-4]
NP_945173.1, NM_198935.2 [O75177-1]
XP_005260448.1, XM_005260391.1 [O75177-2]
XP_011527066.1, XM_011528764.2 [O75177-2]
XP_011527069.1, XM_011528767.1 [O75177-5]
UniGeneiHs.154429

3D structure databases

ProteinModelPortaliO75177
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117505, 42 interactors
IntActiO75177, 27 interactors
MINTiO75177
STRINGi9606.ENSP00000333012

PTM databases

iPTMnetiO75177
PhosphoSitePlusiO75177

Polymorphism and mutation databases

BioMutaiSS18L1

Proteomic databases

EPDiO75177
MaxQBiO75177
PaxDbiO75177
PeptideAtlasiO75177
PRIDEiO75177
ProteomicsDBi49845
49846 [O75177-2]
49847 [O75177-3]
49848 [O75177-4]
49849 [O75177-5]

Protocols and materials databases

DNASUi26039
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000331758; ENSP00000333012; ENSG00000184402 [O75177-1]
ENST00000370848; ENSP00000359885; ENSG00000184402 [O75177-3]
GeneIDi26039
KEGGihsa:26039
UCSCiuc002ycb.4 human [O75177-1]

Organism-specific databases

CTDi26039
DisGeNETi26039
EuPathDBiHostDB:ENSG00000184402.14
GeneCardsiSS18L1
HGNCiHGNC:15592 SS18L1
HPAiCAB011827
HPA059046
MIMi606472 gene
neXtProtiNX_O75177
OpenTargetsiENSG00000184402
PharmGKBiPA37989
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3227 Eukaryota
ENOG41128HA LUCA
GeneTreeiENSGT00500000044808
HOVERGENiHBG003892
InParanoidiO75177
OMAiQYMGQEE
OrthoDBiEOG091G0O10
PhylomeDBiO75177
TreeFamiTF330999

Enzyme and pathway databases

SIGNORiO75177

Miscellaneous databases

ChiTaRSiSS18L1 human
GeneWikiiSS18L1
GenomeRNAii26039
PROiPR:O75177
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000184402 Expressed in 233 organ(s), highest expression level in forebrain
CleanExiHS_SS18L1
ExpressionAtlasiO75177 baseline and differential
GenevisibleiO75177 HS

Family and domain databases

InterProiView protein in InterPro
IPR007726 SS18_fam
PfamiView protein in Pfam
PF05030 SSXT, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCREST_HUMAN
AccessioniPrimary (citable) accession number: O75177
Secondary accession number(s): A6NNE3
, A8K620, B3KWR8, E1P5H7, Q5JXJ3, Q6MZV9, Q6NTH3, Q6XYD9, Q8NE69, Q9BR55, Q9H4K6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 31, 2002
Last sequence update: January 31, 2002
Last modified: November 7, 2018
This is version 145 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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