Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
DIPK1A (Divergent Protein Kinase Domain 1A) is a Protein Coding gene. Diseases associated with DIPK1A include Diamond-Blackfan Anemia 6 and Diamond-Blackfan Anemia 1. An important paralog of this gene is DIPK1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
cow (Bos Taurus) |
Mammalia | MGC143035 33 |
|
OneToOne | |
FAM69A 32 |
|
||||
chimpanzee (Pan troglodytes) |
Mammalia | FAM69A 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | FAM69A 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | FAM69A 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Fam69a 33 32 |
|
OneToOne | |
Dipk1a 17 |
|
||||
rat (Rattus norvegicus) |
Mammalia | Fam69a 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | FAM69A 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | FAM69A 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | FAM69A 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | fam69a 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | fam69a 33 32 |
|
OneToMany | |
FAM69A (1 of 2) 33 |
|
OneToMany |
SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1060503527 | pathogenic, Diamond-Blackfan anemia | 92,833,603(-) | C/G | genic_downstream_transcript_variant, intron_variant | |
rs1060503545 | uncertain-significance, Diamond-Blackfan anemia | 92,841,839(-) | G/A | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant | |
rs10874744 | benign, Diamond-Blackfan anemia | 92,840,760(-) | G/A | genic_downstream_transcript_variant, intron_variant | |
rs113792800 | benign-likely-benign, benign, Diamond-Blackfan anemia, not specified | 92,834,847(-) | T/C | genic_downstream_transcript_variant, intron_variant | |
rs11540832 | benign-likely-benign, likely-benign, Diamond-Blackfan anemia, not specified, not provided | 92,837,557(-) | A/G | genic_downstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2714684 | CNV | deletion | 23290073 |
esv2714873 | CNV | deletion | 23290073 |
esv3586822 | CNV | loss | 21293372 |
nsv1008602 | CNV | gain | 25217958 |
nsv1137783 | CNV | deletion | 24896259 |
nsv506946 | OTHER | sequence alteration | 20534489 |
nsv508393 | CNV | deletion | 20534489 |
nsv946076 | CNV | duplication | 23825009 |
nsv946077 | CNV | duplication | 23825009 |
nsv946078 | CNV | duplication | 23825009 |
nsv946079 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
diamond-blackfan anemia 6 |
|
|
diamond-blackfan anemia 1 |
|
|
diamond-blackfan anemia |
|
|