Q9Y5B6 (GCFC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 95.
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: GC-rich sequence DNA-binding factor 1 | ||||
| Gene names |
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| 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 | 917 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Possible transcription factor. |
| Subcellular location | Nucleus Potential. |
| Tissue specificity | Ubiquitous. |
| Sequence similarities | Belongs to the GCF family. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing |
| Ligand | DNA-binding |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological process | transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytosol Inferred from direct assay. Source: UniProtKB nucleusInferred from electronic annotation. Source: UniProtKB-SubCell |
| Molecular function | DNA binding Non-traceable author statement. Source: UniProtKB sequence-specific DNA binding transcription factor activityInferred from electronic annotation. Source: InterPro |
| Complete GO annotation... | |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform A (identifier: Q9Y5B6-1) 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 B (identifier: Q9Y5B6-2) The sequence of this isoform differs from the canonical sequence as follows: 779-917: LLGNFLQWYG...KEFKSLIEGK → VIKPPFQRGS...WTDRPCVVFS | ||||||
| Isoform C (identifier: Q9Y5B6-3) The sequence of this isoform differs from the canonical sequence as follows: 462-469: VPLINELE → SVQFRKLL 470-917: Missing. | ||||||
| Isoform D (identifier: Q9Y5B6-4) The sequence of this isoform differs from the canonical sequence as follows: 503-511: NKALMAPNL → SQSILKTKL 512-917: Missing. | ||||||
| Note: Major isoform. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 917 | 917 | GC-rich sequence DNA-binding factor 1 | PRO_0000087439 | |||||
Amino acid modifications | |||||||||
| Modified residue | 16 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 62 | 1 | Phosphoserine Ref.6 | ||||||
| Modified residue | 154 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 155 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 158 | 1 | Phosphoserine Ref.9 | ||||||
| Modified residue | 191 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 262 | 1 | Phosphoserine Ref.9 Ref.10 Ref.11 | ||||||
| Modified residue | 295 | 1 | Phosphoserine Ref.12 | ||||||
| Modified residue | 378 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 380 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 557 | 1 | Phosphoserine Ref.6 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12 | ||||||
| Modified residue | 558 | 1 | Phosphoserine Ref.6 Ref.7 Ref.8 Ref.9 Ref.11 Ref.12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 462 – 469 | 8 | VPLINELE → SVQFRKLL in isoform C. | VSP_004263 | |||||
| Alternative sequence | 470 – 917 | 448 | Missing in isoform C. | VSP_004264 | |||||
| Alternative sequence | 503 – 511 | 9 | NKALMAPNL → SQSILKTKL in isoform D. | VSP_004265 | |||||
| Alternative sequence | 512 – 917 | 406 | Missing in isoform D. | VSP_004266 | |||||
| Alternative sequence | 779 – 917 | 139 | LLGNF…LIEGK → VIKPPFQRGSCPIPRRKECC SERPRRIWTDRPCVVFS in isoform B. | VSP_004267 | |||||
Experimental info | |||||||||
| Sequence conflict | 692 – 711 | 20 | Missing in AAD34617. Ref.5 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map." Reymond A., Friedli M., Neergaard Henrichsen C., Chapot F., Deutsch S., Ucla C., Rossier C., Lyle R., Guipponi M., Antonarakis S.E. Genomics 78:46-54(2001) [PubMed: 11707072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A; B; C AND D). |
| [2] | "Isolation and initial characterization of a putative human chromosome 21 transcription factor." Chapot-Skovsgaard F.M., Guipponi M., Lyle R., Antonarakis S.E. Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS A AND D). Tissue: Brain, Heart, Kidney, Lung, Muscle, Placenta and Testis. |
| [3] | 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. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | "Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21." Slavov D., Hattori M., Sakaki Y., Rosenthal A., Shimizu N., Minoshima S., Kudoh J., Yaspo M.-L., Ramser J., Reinhardt R., Reimer C., Clancy K., Rynditch A., Gardiner K. Gene 247:215-232(2000) [PubMed: 10773462] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 132-917 (ISOFORM A). |
| [5] | "Cloning of candidate of GC-rich sequence DNA-binding factor." Teramoto T., Thorgeirsson S.S. Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 489-815 (ISOFORM B). |
| [6] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-62; SER-557 AND SER-558, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [7] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-16; SER-191; THR-378; SER-380; SER-557 AND SER-558, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-557 AND SER-558, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-154; SER-155; SER-158; SER-262; SER-557 AND SER-558, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [10] | "Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography." Han G., Ye M., Zhou H., Jiang X., Feng S., Jiang X., Tian R., Wan D., Zou H., Gu J. Proteomics 8:1346-1361(2008) [PubMed: 18318008] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262, MASS SPECTROMETRY. Tissue: Liver. |
| [11] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-262; SER-557 AND SER-558, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [12] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-295; SER-557 AND SER-558, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [13] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AY033903 mRNA. Translation: AAK68721.1. AY033904 mRNA. Translation: AAK68722.1. AY033905 mRNA. Translation: AAK68723.1. AY033906 mRNA. Translation: AAK68724.1. AJ279080 mRNA. Translation: CAC40813.1. AJ279081 mRNA. Translation: CAC40814.1. CH471079 Genomic DNA. Translation: EAX09859.1. CH471079 Genomic DNA. Translation: EAX09861.1. AF231920 mRNA. Translation: AAF72944.1. AF153208 mRNA. Translation: AAD34617.1. Different termination. |
| IPI | IPI00001364. IPI00069267. IPI00219169. IPI00797180. |
| RefSeq | NP_037461.2. NM_013329.3. NP_057715.2. NM_016631.3. |
| UniGene | Hs.644004. |
3D structure databases | |
| ProteinModelPortal | Q9Y5B6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y5B6. 2 interactions. |
| STRING | Q9Y5B6. |
PTM databases | |
| PhosphoSite | Q9Y5B6. |
Polymorphism databases | |
| DMDM | 20141448. |
Proteomic databases | |
| PRIDE | Q9Y5B6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000331923; ENSP00000328992; ENSG00000159086. |
| GeneID | 94104. |
| KEGG | hsa:94104. |
| UCSC | uc002yqn.1. human. uc002yqp.1. human. uc002yqq.1. human. |
Organism-specific databases | |
| CTD | 94104. |
| GeneCards | GC21M034106. |
| H-InvDB | HIX0016067. |
| HGNC | HGNC:13579. GCFC1. |
| HPA | HPA003757. |
| neXtProt | NX_Q9Y5B6. |
| PharmGKB | PA25861. |
| GenAtlas | Search... |
Phylogenomic databases | |
| GeneTree | ENSGT00390000000455. |
| HOGENOM | HBG443575. |
| HOVERGEN | HBG005817. |
| InParanoid | Q9Y5B6. |
| OMA | FTPHDNE. |
| OrthoDB | EOG4TF0JN. |
| PhylomeDB | Q9Y5B6. |
Gene expression databases | |
| ArrayExpress | Q9Y5B6. |
| Bgee | Q9Y5B6. |
| CleanEx | HS_C21orf66. |
| Genevestigator | Q9Y5B6. |
| GermOnline | ENSG00000159086. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR012890. GCFC. IPR022783. GCFC_dom. [Graphical view] |
| KO | K13211. |
| PANTHER | PTHR12214. GCFC. 1 hit. |
| Pfam | PF07842. GCFC. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| NextBio | 78383. |
Entry information
| Entry name | GCFC1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y5B6 Secondary accession number(s): D3DSE7, Q96DU8, Q9NYQ0 | ||||||||
| 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 21 Human chromosome 21: entries, gene names and cross-references to MIM |
| SIMILARITY comments Index of protein domains and families |

Clusters with