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C1orf194 (Chromosome 1 Open Reading Frame 194) is a Protein Coding gene. Diseases associated with C1orf194 include Charcot-Marie-Tooth Disease and Tooth Disease. An important paralog of this gene is FLVCR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0015232 | heme transporter activity | IBA | 21873635 |
GO:0020037 | heme binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 31199454 |
GO:0005856 | cytoskeleton | IEA,IDA | 31199454 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0097037 | heme export | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||
SP2: | |||||||||||||||||
SP3: | - | ||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||
SP5: | - | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C1H1orf194 30 |
|
||
C1orf194 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C6H1orf194 30 |
|
||
C1orf194 31 |
|
OneToOne | |||
Mouse (Mus musculus) |
Mammalia | 1700013F07Rik 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | C3H1orf194 30 |
|
||
C1orf194 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | RGD1309139 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | C1orf194 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C1orf194 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | C1orf194 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100487688 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-163l21.7 30 |
|
||
C8H1orf194 31 |
|
OneToOne | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
VAR_082033 | - | p.Lys28Ile | |||
VAR_082034 | - | p.Ile122Asn |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3894001 | CNV | gain | 25118596 |
nsv1008458 | CNV | gain | 25217958 |
nsv831026 | CNV | loss | 17160897 |
nsv930465 | CNV | insertion | 23359205 |
Disorder | Aliases | PubMed IDs |
---|---|---|
charcot-marie-tooth disease |
|
|
tooth disease |
|
|
retinitis pigmentosa 32 |
|
|
malignant ependymoma |
|
|