O75177 (CREST_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Calcium-responsive transactivator

Alternative name(s):
SS18-like protein 1
SYT homolog 1

Gene names

Name:	SS18L1
Synonyms:	CREST, KIAA0693

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	396 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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.
Subunit structure	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.
Subcellular location	Nucleus By similarity. Chromosome › centromere › kinetochore By similarity. Note: Localizes to nuclear bodies. Co-localizes with SGOL1 at kinetochore By similarity. Ref.8
Tissue specificity	Ubiquitous; with lowest levels in spleen.
Domain	The MFD (multi-functional domain) domain is involved in transcription transactivation, nuclear body targeting and dimerization By similarity.
Sequence similarities	Belongs to the SS18 family.
Sequence caution	The sequence BAA31668.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Centromere Chromosome Kinetochore Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Ligand	Calcium
Molecular function	Activator Chromatin regulator
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW positive regulation of transcription, DNA-dependent Inferred from sequence or structural similarity. Source: UniProtKB transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	condensed chromosome kinetochore Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O75177-1)

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: O75177-2)

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

Isoform 3 (identifier: O75177-3)

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

Isoform 4 (identifier: O75177-4)

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

Isoform 5 (identifier: O75177-5)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 396	396	Calcium-responsive transactivator		PRO_0000181825
Regions
	Region	1 – 148	148	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 By similarity
	Region	149 – 232	84	Methionine-rich intra-molecular domain By similarity
	Region	246 – 317	72	MFD domain By similarity
	Region	334 – 396	63	Necessary for nuclear localization By similarity
	Region	387 – 396	10	Necessary for interaction with CREBBP and for the recruitment of CREBBP to the nuclear bodies By similarity
	Motif	50 – 53	4	SH2-binding Potential
	Motif	353 – 356	4	SH2-binding Potential
	Motif	371 – 379	9	SH3-binding Potential
	Motif	391 – 394	4	SH2-binding Potential
	Compositional bias	190 – 396	207	Gln-rich
Natural variations
	Alternative sequence	1 – 131	131	Missing in isoform 4.		VSP_038697
	Alternative sequence	1 – 82	82	Missing in isoform 3.		VSP_038698
	Alternative sequence	1 – 49	49	MSVAF…AECTQ → MQSLSTEARYVPRVPQHRDQ ISPRSPQHGGQICPRSPLHR GQICPRSPPARR in isoform 5.		VSP_038699
	Alternative sequence	1 – 23	23	MSVAF…QTIQK → M in isoform 2.		VSP_038700
	Natural variant	189	1	M → I. Ref.7 Corresponds to variant rs17853304 [ dbSNP | Ensembl ].		VAR_062534
	Natural variant	321	1	A → T. Corresponds to variant rs36106901 [ dbSNP | Ensembl ].		VAR_053691
Experimental info
	Sequence conflict	128	1	S → G in CAE45918. Ref.2
	Sequence conflict	139	1	T → S in BAF84174. Ref.4
	Sequence conflict	143	1	T → A in BAG54230. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 31, 2002. Version 2. Checksum: B76B7D61C7DF5592	FASTA	396	42,990
	10 20 30 40 50 60 MSVAFASARP RGKGEVTQQT IQKMLDENHH LIQCILEYQS KGKTAECTQY QQILHRNLVY 70 80 90 100 110 120 LATIADSNQN MQSLLPAPPT QNMNLGPGAL TQSGSSQGLH SQGSLSDAIS TGLPPSSLLQ 130 140 150 160 170 180 GQIGNGPSHV SMQQTAPNTL PTTSMSISGP GYSHAGPASQ GVPMQGQGTI GNYVSRTNIN 190 200 210 220 230 240 MQSNPVSMMQ QQAATSHYSS AQGGSQHYQG QSSIAMMGQG SQGSSMMGQR PMAPYRPSQQ 250 260 270 280 290 300 GSSQQYLGQE EYYGEQYSHS QGAAEPMGQQ YYPDGHGDYA YQQSSYTEQS YDRSFEESTQ 310 320 330 340 350 360 HYYEGGNSQY SQQQAGYQQG AAQQQTYSQQ QYPSQQSYPG QQQGYGSAQG APSQYPGYQQ 370 380 390 GQGQQYGSYR APQTAPSAQQ QRPYGYEQGQ YGNYQQ
	Isoform 2 [UniParc]. Checksum: 365CA60BB485F174	FASTA	374	40,649
	10 20 30 40 50 60 MMLDENHHLI QCILEYQSKG KTAECTQYQQ ILHRNLVYLA TIADSNQNMQ SLLPAPPTQN 70 80 90 100 110 120 MNLGPGALTQ SGSSQGLHSQ GSLSDAISTG LPPSSLLQGQ IGNGPSHVSM QQTAPNTLPT 130 140 150 160 170 180 TSMSISGPGY SHAGPASQGV PMQGQGTIGN YVSRTNINMQ SNPVSMMQQQ AATSHYSSAQ 190 200 210 220 230 240 GGSQHYQGQS SIAMMGQGSQ GSSMMGQRPM APYRPSQQGS SQQYLGQEEY YGEQYSHSQG 250 260 270 280 290 300 AAEPMGQQYY PDGHGDYAYQ QSSYTEQSYD RSFEESTQHY YEGGNSQYSQ QQAGYQQGAA 310 320 330 340 350 360 QQQTYSQQQY PSQQSYPGQQ QGYGSAQGAP SQYPGYQQGQ GQQYGSYRAP QTAPSAQQQR 370 PYGYEQGQYG NYQQ
	Isoform 3 [UniParc]. Checksum: C39CE9C4D11202ED	FASTA	314	33,767
	10 20 30 40 50 60 MNLGPGALTQ SGSSQGLHSQ GSLSDAISTG LPPSSLLQGQ IGNGPSHVSM QQTAPNTLPT 70 80 90 100 110 120 TSMSISGPGY SHAGPASQGV PMQGQGTIGN YVSRTNINMQ SNPVSMMQQQ AATSHYSSAQ 130 140 150 160 170 180 GGSQHYQGQS SIAMMGQGSQ GSSMMGQRPM APYRPSQQGS SQQYLGQEEY YGEQYSHSQG 190 200 210 220 230 240 AAEPMGQQYY PDGHGDYAYQ QSSYTEQSYD RSFEESTQHY YEGGNSQYSQ QQAGYQQGAA 250 260 270 280 290 300 QQQTYSQQQY PSQQSYPGQQ QGYGSAQGAP SQYPGYQQGQ GQQYGSYRAP QTAPSAQQQR 310 PYGYEQGQYG NYQQ
	Isoform 4 [UniParc]. Checksum: D35D21D42D2235A9	FASTA	265	29,056
	10 20 30 40 50 60 MQQTAPNTLP TTSMSISGPG YSHAGPASQG VPMQGQGTIG NYVSRTNINM QSNPVSMMQQ 70 80 90 100 110 120 QAATSHYSSA QGGSQHYQGQ SSIAMMGQGS QGSSMMGQRP MAPYRPSQQG SSQQYLGQEE 130 140 150 160 170 180 YYGEQYSHSQ GAAEPMGQQY YPDGHGDYAY QQSSYTEQSY DRSFEESTQH YYEGGNSQYS 190 200 210 220 230 240 QQQAGYQQGA AQQQTYSQQQ YPSQQSYPGQ QQGYGSAQGA PSQYPGYQQG QGQQYGSYRA 250 260 PQTAPSAQQQ RPYGYEQGQY GNYQQ
	Isoform 5 [UniParc]. Checksum: 1136A7C72AE9C53F	FASTA	399	43,408
	10 20 30 40 50 60 MQSLSTEARY VPRVPQHRDQ ISPRSPQHGG QICPRSPLHR GQICPRSPPA RRYQQILHRN 70 80 90 100 110 120 LVYLATIADS NQNMQSLLPA PPTQNMNLGP GALTQSGSSQ GLHSQGSLSD AISTGLPPSS 130 140 150 160 170 180 LLQGQIGNGP SHVSMQQTAP NTLPTTSMSI SGPGYSHAGP ASQGVPMQGQ GTIGNYVSRT 190 200 210 220 230 240 NINMQSNPVS MMQQQAATSH YSSAQGGSQH YQGQSSIAMM GQGSQGSSMM GQRPMAPYRP 250 260 270 280 290 300 SQQGSSQQYL GQEEYYGEQY SHSQGAAEPM GQQYYPDGHG DYAYQQSSYT EQSYDRSFEE 310 320 330 340 350 360 STQHYYEGGN SQYSQQQAGY QQGAAQQQTY SQQQYPSQQS YPGQQQGYGS AQGAPSQYPG 370 380 390 YQQGQGQQYG SYRAPQTAPS AQQQRPYGYE QGQYGNYQQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:169-176(1998) [PubMed: 9734811] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[2]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Small intestine.
[3]	"Novel Homo sapiens cDNA clones with function of promoting mice NIH/3T3 cells' growth." Wan D.F., Qin W.X., Zhou X.M., Zhang P.P., Jiang H.Q., Gu J.R. Submitted (DEC-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[4]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4). Tissue: Brain and Synovium.
[5]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed: 11780052] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5), VARIANT ILE-189. Tissue: Lymph and Testis.
[8]	"sSgo1, a major splice variant of Sgo1, functions in centriole cohesion where it is regulated by Plk1." Wang X., Yang Y., Duan Q., Jiang N., Huang Y., Darzynkiewicz Z., Dai W. Dev. Cell 14:331-341(2008) [PubMed: 18331714] [Abstract] Cited for: SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. Translation: CAI18836.1. 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.
IPI	IPI00028722. IPI00747811. IPI00954973. IPI00954989. IPI00955028.
RefSeq	NP_945173.1. NM_198935.1.
UniGene	Hs.154429.
3D structure databases
ProteinModelPortal	O75177.
ModBase	Search...
Protein-protein interaction databases
IntAct	O75177. 3 interactions.
MINT	MINT-1450756.
STRING	O75177.
Proteomic databases
PRIDE	O75177.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000331758; ENSP00000333012; ENSG00000184402. ENST00000421564; ENSP00000393999; ENSG00000184402.
GeneID	26039.
KEGG	hsa:26039.
UCSC	uc002ycb.1. human.
Organism-specific databases
CTD	26039.
GeneCards	GC20P060718.
H-InvDB	HIX0203027.
HGNC	HGNC:15592. SS18L1.
HPA	CAB011827.
MIM	606472. gene.
neXtProt	NX_O75177.
PharmGKB	PA37989.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00500000044808.
HOVERGEN	HBG003892.
OMA	KTAECTQ.
OrthoDB	EOG4F4SBW.
PhylomeDB	O75177.
Gene expression databases
ArrayExpress	O75177.
Bgee	O75177.
CleanEx	HS_SS18L1.
Genevestigator	O75177.
GermOnline	ENSG00000184402. Homo sapiens.
Family and domain databases
InterPro	IPR007726. SSXT. [Graphical view]
PANTHER	PTHR23107. SSXT. 1 hit.
Pfam	PF05030. SSXT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	47867.
SOURCE	Search...

Entry information

Entry name

CREST_HUMAN

Accession

Primary (citable) accession number: O75177
Secondary accession number(s): A6NNE3 , A8K620, B3KWR8, E1P5H7, Q5JXJ3, Q6MZV9, Q6NTH3, Q6XYD9, Q8NE69, Q9BR55, Q9H4K6

Entry history

Integrated into UniProtKB/Swiss-Prot:	January 31, 2002
Last sequence update:	January 31, 2002
Last modified:	January 25, 2012
This is version 87 of the entry and version 2 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.