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The pattern of cellular proliferation and differentiation that leads to normal development of embryonic structures often depends upon the localized production of secreted protein signals. Cells surrounding the source of a particular signal respond in a graded manner according to the effective concentration of the signal, and this response produces the pattern of cell types constituting the mature structure. A novel segment-polarity gene known as dispatched has been identified in Drosophila and its protein product is required for normal Hedgehog (Hh) signaling. This gene is one of two human homologs of Drosophila dispatched and, based on sequence identity to its mouse counterpart, the encoded protein may play an essential role in Hh patterning activities in the early embryo. [provided by RefSeq, Jul 2008]
DISP1 (Dispatched RND Transporter Family Member 1) is a Protein Coding gene. Diseases associated with DISP1 include Microform Holoprosencephaly and Lobar Holoprosencephaly. Among its related pathways are Hedgehog signaling pathway (KEGG). Gene Ontology (GO) annotations related to this gene include hedgehog receptor activity. An important paralog of this gene is DISP2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:1904680 | peptide transmembrane transporter activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0016323 | basolateral plasma membrane | ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Hedgehog signaling pathway (KEGG) |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007225 | patched ligand maturation | IDA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007368 | determination of left/right symmetry | IMP | -- |
GO:0009880 | embryonic pattern specification | IMP | -- |
GO:0009953 | dorsal/ventral pattern formation | IMP | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DISP1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DISP1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DISP1 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Disp1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Disp1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | DISP1 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DISP1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DISP1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | disp1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | disp1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004140 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | disp 30 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | ptd-2 30 31 |
|
ManyToMany | |
che-14 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1029577112 | Uncertain Significance: Holoprosencephaly sequence | 222,991,599(+) |
C/T NM_032890.5(DISP1):c.743C>T (p.Ala248Val) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs1064793099 | Uncertain Significance: not provided | 223,005,402(+) |
TC/T NM_032890.5(DISP1):c.4008del (p.Cys1337fs) |
FRAMESHIFT | |
rs1064794602 | Uncertain Significance: not provided | 223,003,853(+) |
C/A NM_032890.5(DISP1):c.2456C>A (p.Ala819Asp) |
MISSENSE | |
rs1064794816 | Uncertain Significance: not provided | 223,003,681(+) |
G/C NM_032890.5(DISP1):c.2284G>C (p.Glu762Gln) |
MISSENSE | |
rs1064795201 | Uncertain Significance: not provided | 223,004,603(+) |
A/G NM_032890.5(DISP1):c.3206A>G (p.Glu1069Gly) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1553806 | CNV | insertion | 17803354 |
esv2723328 | CNV | deletion | 23290073 |
esv3547277 | CNV | deletion | 23714750 |
esv3578452 | CNV | loss | 25503493 |
esv3578453 | CNV | loss | 25503493 |
esv3588951 | CNV | loss | 21293372 |
esv5267 | CNV | loss | 18987735 |
esv991453 | CNV | insertion | 20482838 |
esv998735 | CNV | deletion | 20482838 |
nsv1160101 | CNV | deletion | 26073780 |
nsv442589 | CNV | loss | 18776908 |
Disorder | Aliases | PubMed IDs |
---|---|---|
microform holoprosencephaly |
|
|
lobar holoprosencephaly |
|
|
septopreoptic holoprosencephaly |
|
|
midline interhemispheric variant of holoprosencephaly |
|
|
alobar holoprosencephaly |
|
|