Q9NQ55 (SSF1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 29, 2013.
Version 112.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Suppressor of SWI4 1 homolog Short name=Ssf-1 Alternative name(s): Brix domain-containing protein 3 Peter Pan homolog | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 473 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | May have a role in cell growth. |
| Subcellular location | |
| Tissue specificity | |
| Miscellaneous | A chimeric transcript, characterized by the first third of PPAN exon 12 joined to P2RY11 exon 2, has been detected. It is possibly produced by trans-splicing. The chimeric transcript is widely expressed and can be induced by retinoic acid during the granulocytic differentiation of the HL-60 cell line. The resulting chimeric protein shows a much lower activity than the non-chimeric P2RY11 gene product, but qualitatively indistinguishable (Ref.4). |
| Sequence similarities | Contains 1 Brix domain. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | RNA splicing Traceable author statement Ref.1. Source: ProtInc |
| Cellular_component | cytoplasm Inferred from direct assay. Source: HPA nucleusInferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NQ55-1) 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: Q9NQ55-2) The sequence of this isoform differs from the canonical sequence as follows: 444-456: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q9NQ55-3) The sequence of this isoform differs from the canonical sequence as follows: 448-473: ARRGPRGASRDGGRGRGRGRPGKRVA → VPSPALPTSW...SWQSATCSAP | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 473 | 473 | Suppressor of SWI4 1 homolog | PRO_0000120257 | |||||
Regions | |||||||||
| Domain | 29 – 292 | 264 | Brix | ||||||
Natural variations | |||||||||
| Alternative sequence | 444 – 456 | 13 | Missing in isoform 2. | VSP_003973 | |||||
| Alternative sequence | 448 – 473 | 26 | ARRGP…GKRVA → VPSPALPTSWQLPTTNSVGS RGTSCGPYWWLSSWWPWPAM AWPCTASASGSSAHGTPPWS SLSSWQSATCSAP in isoform 3. | VSP_046377 | |||||
| Natural variant | 358 | 1 | G → V. Corresponds to variant rs2305793 [ dbSNP | Ensembl ]. | VAR_022157 | |||||
| Natural variant | 408 | 1 | Q → R. Corresponds to variant rs11559188 [ dbSNP | Ensembl ]. | VAR_048422 | |||||
Experimental info | |||||||||
| Isoform 3: | |||||||||
| Sequence conflict | 520 | 1 | P → L in BC171852. Ref.3 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Cloning, genomic organization, and tissue distribution of human Ssf-1." Suarez-Huerta N., Boeynaems J.-M., Communi D. Biochem. Biophys. Res. Commun. 275:37-42(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY. Tissue: Placenta. |
| [2] | "The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. Lucas S.M.Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [3] | "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] (ISOFORMS 1; 2 AND 3). Tissue: Brain, Placenta and Skin. |
| [4] | "Cotranscription and intergenic splicing of human P2Y11 and SSF1 genes." Communi D., Suarez-Huerta N., Dussossoy D., Savi P., Boeynaems J.-M. J. Biol. Chem. 276:16561-16566(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-427, TISSUE SPECIFICITY, TRANS-SPLICING. Tissue: Placenta. |
| [5] | "Functional proteomic analysis of human nucleolus." Scherl A., Coute Y., Deon C., Calle A., Kindbeiter K., Sanchez J.-C., Greco A., Hochstrasser D.F., Diaz J.-J. Mol. Biol. Cell 13:4100-4109(2002) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AJ292529 mRNA. Translation: CAB99252.1. AC020931 Genomic DNA. No translation available. BC000535 mRNA. Translation: AAH00535.2. BC009833 mRNA. Translation: AAH09833.1. BC033202 mRNA. Translation: AAH33202.1. BC171852 mRNA. No translation available. AJ300588 mRNA. Translation: CAC18877.1. Different termination. |
| IPI | IPI00219793. IPI00329590. IPI00926444. |
| PIR | JC7359. |
| RefSeq | NP_001035754.1. NM_001040664.2. NP_001185619.1. NM_001198690.1. NP_064615.3. NM_020230.5. |
| UniGene | Hs.14468. |
3D structure databases | |
| ProteinModelPortal | Q9NQ55. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9NQ55. 5 interactions. |
| MINT | MINT-3072003. |
| STRING | 9606.ENSP00000253107. |
PTM databases | |
| PhosphoSite | Q9NQ55. |
Polymorphism databases | |
| DMDM | 21264056. |
2D gel databases | |
| SWISS-2DPAGE | Q9NQ55. |
Proteomic databases | |
| PaxDb | Q9NQ55. |
| PRIDE | Q9NQ55. |
Protocols and materials databases | |
| DNASU | 56342. 692312. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000253107; ENSP00000253107; ENSG00000130810. ENST00000428358; ENSP00000411918; ENSG00000243207. ENST00000556468; ENSP00000450710; ENSG00000130810. |
| GeneID | 56342. 692312. |
| KEGG | hsa:56342. hsa:692312. |
| UCSC | uc002mmz.2. human. uc010xla.2. human. |
Organism-specific databases | |
| CTD | 56342. 692312. |
| GeneCards | GC19P010216. |
| HGNC | HGNC:9227. PPAN. |
| HPA | HPA043265. |
| MIM | 607793. gene. |
| neXtProt | NX_Q9NQ55. |
| PharmGKB | PA162399971. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG272199. |
| HOGENOM | HOG000210038. |
| HOVERGEN | HBG026954. |
| InParanoid | Q9NQ55. |
| KO | K14859. |
| OMA | RRVMEPF. |
| PhylomeDB | Q9NQ55. |
Gene expression databases | |
| ArrayExpress | Q9NQ55. |
| Bgee | Q9NQ55. |
| CleanEx | HS_PPAN. |
| Genevestigator | Q9NQ55. |
| GermOnline | ENSG00000130810. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007109. Brix. [Graphical view] |
| Pfam | PF04427. Brix. 1 hit. [Graphical view] |
| SMART | SM00879. Brix. 1 hit. [Graphical view] |
| PROSITE | PS50833. BRIX. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | PPAN. human. |
| NextBio | 124574. |
| SOURCE | Search... |
Entry information
| Entry name | SSF1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NQ55 Secondary accession number(s): C9J3F9, Q9BW97, Q9H170 | ||||||||
| Entry history |
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| 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. | ||||||||
Relevant documents
| Human chromosome 19 Human chromosome 19: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
