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Abscission, the separation of daughter cells at the end of cytokinesis, is effected by endosomal sorting complexes required for transport III (ESCRT-III). The protein encoded by this gene functions as a homodimer, with the N-termini binding to a subset of ESCRT-III subunits and the C-termini binding to membranes. The encoded protein regulates ESCRT-III activity and is required for proper cytokinesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
MITD1 (Microtubule Interacting And Trafficking Domain Containing 1) is a Protein Coding gene. Diseases associated with MITD1 include Lipoyltransferase 1 Deficiency and Omodysplasia. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and phosphatidylinositol binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16730941 |
GO:0019904 | protein domain specific binding | IPI | 23015756 |
GO:0035091 | phosphatidylinositol binding | IMP | 23045692 |
GO:0042802 | identical protein binding | IPI | 23015756 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005768 | endosome | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0019898 | extrinsic component of membrane | IDA | 23045692 |
GO:0030496 | midbody | IMP | 23015756 |
GO:0031902 | late endosome membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000281 | mitotic cytokinesis | IMP | 23045692 |
GO:0007049 | cell cycle | IEA | -- |
GO:0032091 | negative regulation of protein binding | IMP | 23015756 |
GO:0039702 | NOT viral budding via host ESCRT complex | IMP | 23045692 |
GO:0051301 | cell division | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | |||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||
SP7: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MITD1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MITD1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mitd1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MITD1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mitd1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MITD1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | MITD1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MITD1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mitd1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mitd1 30 31 |
|
OneToOne | |
-- 30 |
|
||||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006789 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG14985 30 31 |
|
OneToMany | |
CG30398 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | Y66D12A.10 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
973443 | Uncertain Significance: Lipoyltransferase 1 deficiency | 99,162,496(-) |
T/C NM_145199.3(LIPT1):c.539T>C (p.Leu180Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs1057524480 | Uncertain Significance: not provided | 99,162,465(-) |
G/A NM_145199.3(LIPT1):c.508G>A (p.Gly170Ser) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs116463717 | Benign: not specified; not provided | 99,162,570(-) |
A/G NM_145199.3(LIPT1):c.613A>G (p.Thr205Ala) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT | |
rs137891647 | Pathogenic: Lipoyltransferase 1 deficiency; not provided | 99,162,832(-) |
C/G NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) |
NONSENSE,NON_CODING_TRANSCRIPT | |
rs137973334 | Pathogenic: Lipoyltransferase 1 deficiency | 99,162,249(-) |
C/G NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) |
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3591732 | CNV | gain | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lipoyltransferase 1 deficiency |
|
|
omodysplasia |
|
|