Homo sapiens Protein: KIRREL3 | |||||||
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Summary | |||||||
InnateDB Protein | IDBP-602972.3 | ||||||
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 | ENSP00000435094 | ||||||
InnateDB Gene | IDBG-75885 (KIRREL3) | ||||||
Protein Structure | |||||||
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 | |||||||
UniProt Splice Variant | |||||||
Entrez Gene | 84623 | ||||||
UniGene | Hs.376015 | ||||||
RefSeq | NP_001155179 | ||||||
HUGO | HGNC:23204 | ||||||
OMIM | 607761 | ||||||
CCDS | CCDS55796 | ||||||
HPRD | 09679 | ||||||
IMGT | |||||||
EMBL | AB058770 AF480410 AY358743 AY358760 BC101775 BC101801 | ||||||
GenPept | AAI01776 AAI01802 AAN73042 AAQ89103 AAQ89120 BAB47496 | ||||||