Q9NSB8 (HOME2_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 98.
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: Homer protein homolog 2 Short name=Homer-2 Alternative name(s): Cupidin | ||
| 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 | 354 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. |
| Subunit structure | Isoform 1 and isoform 2 encode coiled-coil structures that mediate homo- and heteromultimerization. |
| Subcellular location | Cytoplasm. Cell junction › synapse › postsynaptic cell membrane › postsynaptic density. Cell junction › synapse. Note: Postsynaptic density of neuronal cells. The stabilization and clustering of the metabotropic glutamate receptors appears to be mediated by isoform 1 and isoform 2 at the cell surface. |
| Domain | The WH1 domain interacts with the PPXXF motif in GRM1, GRM5, RYR1, RYR2, ITPR1, SHANK 1 and SHANK3. |
| Sequence similarities | Belongs to the Homer family. Contains 1 WH1 domain. |
| Sequence caution | The sequence CAB75539.1 differs from that shown. Reason: Aberrant splicing. The sequence CAB75540.1 differs from that shown. Reason: Aberrant splicing. |
Ontologies
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9NSB8-1) Also known as: 2b; 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: Q9NSB8-2) Also known as: 2a; The sequence of this isoform differs from the canonical sequence as follows: 130-140: Missing. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 354 | 354 | Homer protein homolog 2 | PRO_0000191008 | |||||
Regions | |||||||||
| Domain | 1 – 110 | 110 | WH1 | ||||||
| Coiled coil | 92 – 122 | 31 | Potential | ||||||
| Coiled coil | 160 – 329 | 170 | Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 130 – 140 | 11 | Missing in isoform 2. | VSP_041731 | |||||
| Natural variant | 219 | 1 | R → H. Corresponds to variant rs7175005 [ dbSNP | Ensembl ]. | VAR_053366 | |||||
| Natural variant | 239 | 1 | I → S. Corresponds to variant rs17158223 [ dbSNP | Ensembl ]. | VAR_053367 | |||||
Experimental info | |||||||||
| Sequence conflict | 149 | 1 | D → E in AAC71027. Ref.1 | ||||||
| Sequence conflict | 149 | 1 | D → E in AAC71028. Ref.1 | ||||||
| Sequence conflict | 161 | 1 | H → Q in AAC71027. Ref.1 | ||||||
| Sequence conflict | 161 | 1 | H → Q in AAC71028. Ref.1 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Homer regulates the association of group 1 metabotropic glutamate receptors with multivalent complexes of homer-related, synaptic proteins." Xiao B., Tu J.C., Petralia R.S., Yuan J.P., Doan A., Breder C.D., Ruggiero A., Lanahan A.A., Wenthold R.J., Worley P.F. Neuron 21:707-716(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2). Tissue: Frontal cortex. |
| [2] | "Molecular characterisation of two structurally distinct groups of human homers, generated by extensive alternative splicing." Soloviev M., Ciruela F., Chan W.-Y., McIlhinney R.A.J. J. Mol. Biol. 295:1185-1200(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), NUCLEOTIDE SEQUENCE [MRNA] OF 1-182 (ISOFORMS 1/2). |
| [3] | "Mammalian neuralized interacts with a novel protein which has a EVH1-like domain." Yoshida M., Ueno M., Nakamura H., Saya H. Submitted (JUL-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Tissue: Brain. |
| [4] | "Analysis of the DNA sequence and duplication history of human chromosome 15." Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. Nusbaum C.Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "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 2). Tissue: Lung. |
| [6] | "Homer binds a novel proline-rich motif and links group 1 metabotropic glutamate receptors with IP3 receptors." Tu J.C., Xiao B., Yuan J.P., Lanahan A.A., Leoffert K., Li M., Linden D.J., Worley P.F. Neuron 21:717-726(1998) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH GRM1; GRM5; DYN3 AND ITPR1. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF093263 mRNA. Translation: AAC71027.1. AF093264 mRNA. Translation: AAC71028.1. Y19025 mRNA. Translation: CAB75537.1. Y19026 mRNA. Translation: CAB75538.1. Y19027 mRNA. Translation: CAB75539.1. Sequence problems. Y19028 mRNA. Translation: CAB75540.1. Sequence problems. AF081530 mRNA. Translation: AAD13748.1. AC022558 Genomic DNA. No translation available. AC044907 Genomic DNA. No translation available. BC012109 mRNA. Translation: AAH12109.1. |
| IPI | IPI00394745. IPI00394746. |
| RefSeq | NP_004830.2. NM_004839.3. NP_955362.1. NM_199330.2. |
| UniGene | Hs.578443. |
3D structure databases | |
| ProteinModelPortal | Q9NSB8. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9NSB8. 2 interactions. |
| STRING | 9606.ENSP00000305632. |
PTM databases | |
| PhosphoSite | Q9NSB8. |
Polymorphism databases | |
| DMDM | 38605067. |
Proteomic databases | |
| PaxDb | Q9NSB8. |
| PRIDE | Q9NSB8. |
Protocols and materials databases | |
| DNASU | 9455. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000304231; ENSP00000305632; ENSG00000103942. ENST00000450735; ENSP00000407634; ENSG00000103942. |
| GeneID | 9455. |
| KEGG | hsa:9455. |
| UCSC | uc002bjg.3. human. uc002bjh.3. human. |
Organism-specific databases | |
| CTD | 9455. |
| GeneCards | GC15M083517. |
| H-InvDB | HIX0037900. |
| HGNC | HGNC:17513. HOMER2. |
| HPA | HPA040134. |
| MIM | 604799. gene. |
| neXtProt | NX_Q9NSB8. |
| PharmGKB | PA134870500. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG68331. |
| HOGENOM | HOG000006979. |
| HOVERGEN | HBG051918. |
| InParanoid | Q9NSB8. |
| KO | K15010. |
| OMA | NWMPASK. |
| PhylomeDB | Q9NSB8. |
Gene expression databases | |
| ArrayExpress | Q9NSB8. |
| Bgee | Q9NSB8. |
| CleanEx | HS_HOMER2. |
| Genevestigator | Q9NSB8. |
| GermOnline | ENSG00000103942. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.30.29.30. 1 hit. |
| InterPro | IPR000697. EVH1. IPR011993. PH_like_dom. [Graphical view] |
| Pfam | PF00568. WH1. 1 hit. [Graphical view] |
| SMART | SM00461. WH1. 1 hit. [Graphical view] |
| PROSITE | PS50229. WH1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 9455. |
| NextBio | 35424. |
| SOURCE | Search... |
Entry information
| Entry name | HOME2_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9NSB8 Secondary accession number(s): O95269 Q9UNT7 | ||||||||
| 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 15 Human chromosome 15: 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
