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This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017]
BICD1 (BICD Cargo Adaptor 1) is a Protein Coding gene. Diseases associated with BICD1 include Lissencephaly 1 and Granulomatous Disease, Chronic, Autosomal Recessive, 3. Among its related pathways are Vesicle-mediated transport and Golgi-to-ER retrograde transport. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and structural constituent of cytoskeleton. An important paralog of this gene is BICD2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005200 | structural constituent of cytoskeleton | TAS | 9367685 |
GO:0005515 | protein binding | IPI | 17139249 |
GO:0008093 | cytoskeletal adaptor activity | IEA,IDA | 12447383 |
GO:0019901 | protein kinase binding | IPI | 17139249 |
GO:0031267 | small GTPase binding | IPI | 12447383 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005794 | colocalizes_with Golgi apparatus | IBA,IDA | 17139249 |
GO:0005802 | trans-Golgi network | IDA | 12447383 |
GO:0005813 | centrosome | IMP | 17139249 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0005856 | cytoskeleton | NAS | 9367685 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Golgi-to-ER retrograde transport | ||
2 | Vesicle-mediated transport | ||
3 | COPI-independent Golgi-to-ER retrograde traffic |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006396 | RNA processing | TAS | 9367685 |
GO:0008298 | intracellular mRNA localization | NAS | 9367685 |
GO:0009653 | anatomical structure morphogenesis | TAS | 9367685 |
GO:0016032 | viral process | IMP | 20089649 |
GO:0033365 | protein localization to organelle | IBA,IDA | 12447383 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | ^ | 10a | · | 10b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | ||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | BICD1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | BICD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | BICD1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | BICD1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Bicd1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Bicd1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | BICD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BICD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | BICD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bicd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | bicd1a 30 31 |
|
OneToMany | |
BICD1 (1 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | BicD 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | C43G2.2 32 |
|
|
|
bicd-1 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs144919300 | Benign: not provided | 32,216,354(+) |
G/A NM_001714.4(BICD1):c.321G>A (p.Gly107=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs34447944 | Benign: not specified | 32,328,435(+) |
C/T NM_001714.4(BICD1):c.1980C>T (p.Ala660=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs3748275 | Benign: not specified | 32,328,159(+) |
G/C NM_001714.4(BICD1):c.1704G>C (p.Val568=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs62642547 | Benign: not provided | 32,107,445(+) |
G/A NM_001714.4(BICD1):c.114G>A (p.Gly38=) |
NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS | |
rs200845476 | - |
p.Thr778Ala |
Disorder | Aliases | PubMed IDs |
---|---|---|
lissencephaly 1 |
|
|
granulomatous disease, chronic, autosomal recessive, 3 |
|
|
lissencephaly |
|
|