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NEPH1 is a member of the nephrin-like protein family, which includes NEPH2 (MIM 607761) and NEPH3 (MIM 607762). The cytoplasmic domains of these proteins interact with the C terminus of podocin (NPHS2; MIM 604766), and the genes are expressed in kidney podocytes, cells involved in ensuring size- and charge-selective ultrafiltration (Sellin et al., 2003 [PubMed 12424224]).[supplied by OMIM, Mar 2008]
KIRREL1 (Kirre Like Nephrin Family Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with KIRREL1 include Nephrotic Syndrome, Type 23 and Nephrotic Syndrome, Type 1. Among its related pathways are Cell junction organization and Nephrin interactions. An important paralog of this gene is KIRREL3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21402783 |
GO:0017022 | myosin binding | IPI | 21402783 |
GO:0050839 | cell adhesion molecule binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0005911 | cell-cell junction | IEA,IDA | 21402783 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cell junction organization | ||
2 | Nephrin interactions | ||
3 | Nephrin/Neph1 signaling in the kidney podocyte |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0098609 | cell-cell adhesion | IBA | 21873635 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KIRREL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KIRREL 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Mouse (Mus musculus) |
Mammalia | Kirrel 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Kirrel 30 |
|
||
Dog (Canis familiaris) |
Mammalia | KIRREL 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KIRREL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KIRREL 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KIRREL 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kirrel 30 |
|
||
Str.13745 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | kirrela 30 31 |
|
OneToMany | |
kirrelb 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | rst 30 31 |
|
ManyToMany | |
kirre 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000218 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | syg-1 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs35927201 | - |
p.Ala78Thr |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv14e215 | CNV | deletion | 23714750 |
dgv442n100 | CNV | gain | 25217958 |
esv2667823 | CNV | deletion | 23128226 |
esv2718562 | CNV | deletion | 23290073 |
esv2849458 | CNV | deletion | 24192839 |
esv2956 | CNV | loss | 18987735 |
esv3364099 | CNV | insertion | 20981092 |
esv3574897 | CNV | gain | 25503493 |
esv3578207 | CNV | loss | 25503493 |
esv3587660 | CNV | loss | 21293372 |
esv5651 | OTHER | inversion | 19470904 |
nsv1077742 | CNV | deletion | 25765185 |
nsv1078265 | CNV | deletion | 25765185 |
nsv473341 | CNV | novel sequence insertion | 20440878 |
nsv523208 | CNV | gain | 19592680 |
nsv526592 | CNV | loss | 19592680 |
nsv999542 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
nephrotic syndrome, type 23 |
|
|
nephrotic syndrome, type 1 |
|
|
nephrotic syndrome |
|
|
familial nephrotic syndrome |
|
|
progressive myoclonus epilepsy 4 |
|
|