MITD1 (microtubule interacting and trafficking domain containing 1)

Gene

• Entrez ID: 129531
• Gene name: Microtubule interacting and trafficking domain containing 1
• Gene symbol: MITD1
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2q11.2
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048421	hsa-miR-100-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	23045692
GO:0005515	Function	Protein binding	IPI	16730941, 22190034, 23045692, 25416956, 32296183
GO:0005768	Component	Endosome	IEA
GO:0016020	Component	Membrane	IDA	23045692
GO:0016020	Component	Membrane	IEA
GO:0019904	Function	Protein domain specific binding	IPI	23015756
GO:0030496	Component	Midbody	IBA
GO:0030496	Component	Midbody	IDA	23045692
GO:0030496	Component	Midbody	IEA
GO:0030496	Component	Midbody	IMP	23015756
GO:0031902	Component	Late endosome membrane	IEA
GO:0032091	Process	Negative regulation of protein binding	IMP	23015756
GO:0035091	Function	Phosphatidylinositol binding	IMP	23045692
GO:0039702	Process	Viral budding via host ESCRT complex	IMP	23045692
GO:0042802	Function	Identical protein binding	IPI	23015756, 23045692, 32296183
GO:0051301	Process	Cell division	IEA
GO:0061952	Process	Midbody abscission	IBA
GO:0061952	Process	Midbody abscission	IMP	23015756, 23045692
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071985	Process	Multivesicular body sorting pathway	IMP	23015756, 23045692

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: Q8WV92
• Protein name: MIT domain-containing protein 1
• Protein function: Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex.
• PDB: 2YMB, 4A5X, 4A5Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04212	MIT	13 → 77	MIT (microtubule interacting and transport) domain	Domain
  PF16565	MIT_C	100 → 242	Phospholipase D-like domain at C-terminus of MIT	Domain

• Sequence:

  MAKSGLRQDPQSTAAATVLKRAVELDSESRYPQALVCYQEGIDLLLQVLKGTKDNTKRCN
  LREKISKYMDRAENIKKYLDQEKEDGKYHKQIKIEENATGFSYESLFREYLNETVTEVWI
  EDPYIRHTHQLYNFLRFCEMLIKRPCKVKTIHLLTSLDEGIEQVQQSRGLQEIEESLRSH
  GVLLEVQYSSSIHDREIRFNNGWMIKIGRGLDYFKKPQSRFSLGYCDFDLRPCHETTVDI
  FHKKHTKNI

• Sequence length: 249

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEARING IMPAIRMENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPOYLTRANSFERASE 1 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	36291174	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35293026, 36046690	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34346239	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36046690	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38159255	Associate	★☆☆☆☆ Found in Text Mining only
LIPOYLTRANSFERASE 1 DEFICIENCY	Lipoyltransferase deficiency	CLINVAR_DG	24341803		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33200223	Associate	★☆☆☆☆ Found in Text Mining only