Q9H2G9 (GO45_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
April 3, 2013.
Version 90.
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: Golgin-45 Alternative name(s): Basic leucine zipper nuclear factor 1 JEM-1 p45 basic leucine-zipper nuclear factor | ||||
| 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 | 400 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface. |
| Subunit structure | Interacts with GORASP2 and with the GTP-bound form of RAB2, but not with other Golgi Rab proteins. GORASP2 and BLZF1 form a RAB2 effector complex on medial Golgi. Ref.3 |
| Subcellular location | Golgi apparatus lumen Ref.1 Ref.2 Ref.3. |
| Tissue specificity | Ubiquitous. Also found in cell lines derived from several hematopoietic pathologies, such as T-cell leukemia, pro-B, pre-B, myeloma, and plasmacytoma cell lines, but not in Burkitt lymphoma cells. Ref.1 Ref.2 Ref.3 |
| Induction | |
| Domain | The tankyrase-binding motif (also named TBD) is required for interaction with tankyrase TNKS and TNKS2. Ref.9 |
| Post-translational modification | ADP-ribosylated by tankyrase TNKS and TNKS2. Poly-ADP-ribosylated protein is recognized by RNF146, followed by ubiquitination. Ubiquitinated by RNF146 when poly-ADP-ribosylated, leading to its degradation. Ref.9 |
| Caution | Because of the presence of a potential basic motif and leucine-zipper domain, Ref.1 and Ref.2 have thought that BLZF1 is a potential transcription factor. They found it localized in the nucleus, except isoform 2, which was cytoplasmic. However, homology at several typical position for basic or hydrophobic residues is missing. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9H2G9-1) 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: Q9H2G9-2) Also known as: JEM1s; The sequence of this isoform differs from the canonical sequence as follows: 158-174: NRELKKLLVASVGDDLQ → RRALIDKMSTTLYVWTF 175-400: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 400 | 400 | Golgin-45 | PRO_0000087539 | |||||
Regions | |||||||||
| Region | 394 – 400 | 7 | Essential for the interaction with GORASP2 | ||||||
| Coiled coil | 120 – 213 | 94 | Potential | ||||||
| Motif | 18 – 22 | 5 | Tankyrase-binding motif | ||||||
Amino acid modifications | |||||||||
| Modified residue | 49 | 1 | Phosphoserine Ref.8 | ||||||
| Modified residue | 348 | 1 | Phosphothreonine Ref.7 | ||||||
| Modified residue | 353 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 158 – 174 | 17 | NRELK…GDDLQ → RRALIDKMSTTLYVWTF in isoform 2. | VSP_011186 | |||||
| Alternative sequence | 175 – 400 | 226 | Missing in isoform 2. | VSP_011187 | |||||
| Natural variant | 40 | 1 | Q → R. Corresponds to variant rs1028180 [ dbSNP | Ensembl ]. | VAR_028142 | |||||
| Natural variant | 196 | 1 | R → Q. Corresponds to variant rs1064274 [ dbSNP | Ensembl ]. | VAR_028143 | |||||
Experimental info | |||||||||
| Sequence conflict | 368 | 1 | A → V in AAG37822. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "JEM-1, a novel gene encoding a leucine-zipper nuclear factor upregulated during retinoid-induced maturation of NB4 promyelocytic leukaemia." Duprez E., Tong J.-H., Derre J., Chen S.-J., Berger R., Chen Z., Lanotte M. Oncogene 14:1563-1570(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION. |
| [2] | "Genomic organization of the JEM-1 (BLZF1) gene on human chromosome 1q24: molecular cloning and analysis of its promoter region." Tong J.-H., Fant X., Benoit G., Chen S.-J., Chen Z., Lanotte M. Genomics 69:380-390(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION. |
| [3] | "A GRASP55-rab2 effector complex linking Golgi structure to membrane traffic." Short B., Preisinger C., Koerner R., Kopajtich R., Byron O., Barr F.A. J. Cell Biol. 155:877-883(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH GORASP2 AND THE GTP FORM OF RAB2, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, IDENTIFICATION BY MASS SPECTROMETRY. Tissue: Testis. |
| [4] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "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] (ISOFORM 1). Tissue: Liver. |
| [7] | "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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-348 AND SER-353, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [8] | "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis." Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M. Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-49, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [9] | "RNF146 is a poly(ADP-ribose)-directed E3 ligase that regulates axin degradation and Wnt signalling." Zhang Y., Liu S., Mickanin C., Feng Y., Charlat O., Michaud G.A., Schirle M., Shi X., Hild M., Bauer A., Myer V.E., Finan P.M., Porter J.A., Huang S.M., Cong F. Nat. Cell Biol. 13:623-629(2011) [PubMed] [Europe PMC] [Abstract] Cited for: ADP-RIBOSYLATION, UBIQUITINATION, DOMAIN TANKYRASE-BINDING MOTIF. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U79751 mRNA. Translation: AAB63110.1. AF288161 mRNA. Translation: AAG37835.1. AF273875, AF288162 Genomic DNA. Translation: AAG37821.1. AF272386 AF288162 Genomic DNA. Translation: AAG37822.1.AL356852 Genomic DNA. Translation: CAI19240.1. AL356852 Genomic DNA. Translation: CAI19242.1. CH471067 Genomic DNA. Translation: EAW90837.1. BC020716 mRNA. Translation: AAH20716.1. |
| IPI | IPI00386502. IPI00455985. |
| RefSeq | NP_003657.1. NM_003666.2. |
| UniGene | Hs.130746. |
3D structure databases | |
| ProteinModelPortal | Q9H2G9. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9H2G9. 4 interactions. |
| STRING | 9606.ENSP00000327541. |
PTM databases | |
| PhosphoSite | Q9H2G9. |
Polymorphism databases | |
| DMDM | 116242501. |
Proteomic databases | |
| PaxDb | Q9H2G9. |
| PRIDE | Q9H2G9. |
Protocols and materials databases | |
| DNASU | 8548. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000329281; ENSP00000327541; ENSG00000117475. ENST00000367807; ENSP00000356781; ENSG00000117475. ENST00000367808; ENSP00000356782; ENSG00000117475. |
| GeneID | 8548. |
| KEGG | hsa:8548. |
| UCSC | uc001gfw.3. human. uc001gfx.2. human. |
Organism-specific databases | |
| CTD | 8548. |
| GeneCards | GC01P169337. |
| HGNC | HGNC:1065. BLZF1. |
| HPA | HPA025703. HPA027331. |
| MIM | 608692. gene. |
| neXtProt | NX_Q9H2G9. |
| PharmGKB | PA25375. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG279660. |
| HOGENOM | HOG000088649. |
| HOVERGEN | HBG051750. |
| InParanoid | Q9H2G9. |
| OMA | QFRQEMI. |
| OrthoDB | EOG43R3N2. |
| PhylomeDB | Q9H2G9. |
Enzyme and pathway databases | |
| Reactome | REACT_115566. Cell Cycle. REACT_21300. Mitotic M-M/G1 phases. |
Gene expression databases | |
| ArrayExpress | Q9H2G9. |
| Bgee | Q9H2G9. |
| CleanEx | HS_BLZF1. |
| Genevestigator | Q9H2G9. |
| GermOnline | ENSG00000117475. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR027095. Golgin-45. IPR013183. Hsk3_like. [Graphical view] |
| PANTHER | PTHR13066. PTHR13066. 1 hit. |
| Pfam | PF08227. DASH_Hsk3. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 8548. |
| NextBio | 32028. |
| SOURCE | Search... |
Entry information
| Entry name | GO45_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9H2G9 Secondary accession number(s): O15298 Q9GZX4 | ||||||||
| 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 1 Human chromosome 1: 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 |

Clusters with
