Version 5.4
| Homo sapiens Protein: KIRREL3 | |||||||
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| Summary | |||||||
| InnateDB Protein | IDBP-585329.2 | ||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||
| Gene Symbol | KIRREL3 | ||||||
| Protein Name | kin of IRRE like 3 (Drosophila) | ||||||
| Synonyms | |||||||
| Species | Homo sapiens | ||||||
| Ensembl Protein | ENSP00000435466 | ||||||
| InnateDB Gene | IDBG-75885 (KIRREL3) | ||||||
| Protein Structure |
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| UniProt Annotation | |||||||
| Function | Could be involved in the hematopoietic supportive capacity of stroma cells. {ECO:0000250}. | ||||||
| Subcellular Localization | Cell membrane {ECO:0000269PubMed:19012874}; Single-pass type I membrane protein {ECO:0000269PubMed:19012874}. | ||||||
| Disease Associations | Note=A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe mental retardation and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).Mental retardation, autosomal dominant 4 (MRD4) [MIM:612581]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269PubMed:19012874}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||
| Tissue Specificity | Expressed in fetal and adult brain. Also expressed in kidney, specifically in podocytes of kidney glomeruli. {ECO:0000269PubMed:12424224, ECO:0000269PubMed:19012874}. | ||||||
| Comments | |||||||
| Interactions | |||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||||
| PDB ID | |||||||
| InterPro |
IPR003598
Immunoglobulin subtype 2 IPR003599 Immunoglobulin subtype IPR007110 Immunoglobulin-like domain IPR013098 Immunoglobulin I-set IPR013151 Immunoglobulin IPR013162 CD80-like, immunoglobulin C2-set |
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| PFAM |
PF07679
PF00047 PF08205 |
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| PRINTS | |||||||
| PIRSF | |||||||
| SMART |
SM00408
SM00409 |
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| TIGRFAMs | |||||||
| Post-translational Modifications | |||||||
| Modification | |||||||
| Cross-References | |||||||
| SwissProt | Q8IZU9 | ||||||
| PhosphoSite | PhosphoSite-Q8IZU9 | ||||||
| TrEMBL | B4DT91 | ||||||
| UniProt Splice Variant | |||||||
| Entrez Gene | 84623 | ||||||
| UniGene | Hs.376015 | ||||||
| RefSeq | NP_115920 | ||||||
| HUGO | HGNC:23204 | ||||||
| OMIM | 607761 | ||||||
| CCDS | CCDS53723 | ||||||
| HPRD | 09679 | ||||||
| IMGT | |||||||
| EMBL | AB058770 AF480410 AK300108 AP000741 AP000806 AP001783 AP002832 AP002833 AY358743 AY358760 BC101775 BC101801 CH471065 | ||||||
| GenPept | AAI01776 AAI01802 AAN73042 AAQ89103 AAQ89120 BAB47496 BAG61903 EAW67698 EAW67699 | ||||||