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RELCH (RAB11 Binding And LisH Domain, Coiled-Coil And HEAT Repeat Containing) is a Protein Coding gene. Diseases associated with RELCH include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 and Chronic Recurrent Multifocal Osteomyelitis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005768 | endosome | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0005802 | trans-Golgi network | IEA,IDA | 29514919 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006869 | lipid transport | IEA | -- |
GO:0032367 | intracellular cholesterol transport | IEA,IDA | 29514919 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | KIAA1468 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | KIAA1468 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | KIAA1468 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | KIAA1468 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | 2310035C23Rik 30 31 |
|
OneToOne | |
Relch 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | RGD1307235 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | KIAA1468 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | KIAA1468 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | KIAA1468 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | kiaa1468 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | zgc:66014 30 31 |
|
OneToOne | |
zgc66014 30 |
|
||||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT5G16210 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0514300 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs369560994 | Likely Benign: not provided | 62,227,333(+) |
T/G NM_001346231.2(RELCH):c.903T>G (p.Pro301=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs386352321 | Uncertain Significance: not provided | 62,252,665(+) |
C/A NM_001346231.2(RELCH):c.1735C>A (p.Gln579Lys) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR | |
rs552082774 | Benign: not provided | 62,228,347(+) |
A/G NM_001346231.2(RELCH):c.1197A>G (p.Ala399=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs770815767 | A colorectal cancer sample |
p.Gly929Glu |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2676512 | CNV | deletion | 23128226 |
esv3642747 | CNV | loss | 21293372 |
esv3642748 | CNV | loss | 21293372 |
nsv1055910 | CNV | gain | 25217958 |
nsv1055978 | CNV | loss | 25217958 |
nsv1056589 | CNV | loss | 25217958 |
nsv1142241 | CNV | tandem duplication | 24896259 |
nsv577085 | CNV | loss | 21841781 |
nsv819755 | CNV | loss | 19587683 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple congenital anomalies-hypotonia-seizures syndrome 1 |
|
|
chronic recurrent multifocal osteomyelitis |
|
|
colloid adenoma |
|
|
familial expansile osteolysis |
|
|