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 ... See more...

Aliases for MITD1 Gene

Aliases for MITD1 Gene

  • Microtubule Interacting And Trafficking Domain Containing 1 2 3 5
  • MIT, Microtubule Interacting And Transport, Domain Containing 1 2 3
  • MIT Domain-Containing Protein 1 3 4
  • LOC129531 2
  • MITD1 5

External Ids for MITD1 Gene

Previous GeneCards Identifiers for MITD1 Gene

  • GC02M099777
  • GC02M093551

Summaries for MITD1 Gene

Entrez Gene Summary for MITD1 Gene

  • 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]

GeneCards Summary for MITD1 Gene

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.

UniProtKB/Swiss-Prot Summary for MITD1 Gene

  • Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MITD1 Gene

Genomics for MITD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MITD1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MITD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MITD1

Top Transcription factor binding sites by QIAGEN in the MITD1 gene promoter:
  • GATA-1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-3
  • S8
  • USF-1
  • USF1

Genomic Locations for MITD1 Gene

Latest Assembly
chr2:99,161,427-99,181,061
(GRCh38/hg38)
Size:
19,635 bases
Orientation:
Minus strand

Previous Assembly
chr2:99,785,726-99,797,521
(GRCh37/hg19 by Entrez Gene)
Size:
11,796 bases
Orientation:
Minus strand

chr2:99,777,890-99,797,521
(GRCh37/hg19 by Ensembl)
Size:
19,632 bases
Orientation:
Minus strand

Genomic View for MITD1 Gene

Genes around MITD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MITD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MITD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MITD1 Gene

Proteins for MITD1 Gene

  • Protein details for MITD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV92-MITD1_HUMAN
    Recommended name:
    MIT domain-containing protein 1
    Protein Accession:
    Q8WV92
    Secondary Accessions:
    • Q69YV0

    Protein attributes for MITD1 Gene

    Size:
    249 amino acids
    Molecular mass:
    29314 Da
    Quaternary structure:
    • Homodimer. Interacts (via MIT domain) with CHMP1A, CHMP1B, CHMP2A and IST1.

    Three dimensional structures from OCA and Proteopedia for MITD1 Gene

neXtProt entry for MITD1 Gene

Post-translational modifications for MITD1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MITD1 Gene

Domains & Families for MITD1 Gene

Gene Families for MITD1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for MITD1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MITD1 Gene

GenScript: Design optimal peptide antigens:
  • MIT domain-containing protein 1 (MITD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WV92

UniProtKB/Swiss-Prot:

MITD1_HUMAN :
  • The C-terminal domain interacts with lipid membranes containing acidic phosphoinositides and is required for location at the midbody.
Domain:
  • The C-terminal domain interacts with lipid membranes containing acidic phosphoinositides and is required for location at the midbody.
  • The MIT domain interacts with the MIT-interacting motifs of several components of the ESCRT-III complex.
genes like me logo Genes that share domains with MITD1: view

Function for MITD1 Gene

Molecular function for MITD1 Gene

UniProtKB/Swiss-Prot Function:
Required for efficient abscission at the end of cytokinesis, together with components of the ESCRT-III complex.

Phenotypes From GWAS Catalog for MITD1 Gene

Gene Ontology (GO) - Molecular Function for MITD1 Gene

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
genes like me logo Genes that share ontologies with MITD1: view
genes like me logo Genes that share phenotypes with MITD1: view

miRNA for MITD1 Gene

miRTarBase miRNAs that target MITD1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MITD1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MITD1 Gene

Localization for MITD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MITD1 Gene

Late endosome membrane. Peripheral membrane protein. Cytoplasmic side. Midbody. Membrane. Peripheral membrane protein. Cytoplasmic side. Note=During cytokinesis, recruited to the midbody via interaction with CHMP1A. Interacts with membranes enriched in phosphoinositides.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MITD1 gene
Compartment Confidence
endosome 5
extracellular 4
cytosol 3
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MITD1 Gene

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 --
genes like me logo Genes that share ontologies with MITD1: view

Pathways & Interactions for MITD1 Gene

PathCards logo

SuperPathways for MITD1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MITD1 Gene

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 --
genes like me logo Genes that share ontologies with MITD1: view

No data available for Pathways by source and SIGNOR curated interactions for MITD1 Gene

Drugs & Compounds for MITD1 Gene

No Compound Related Data Available

Transcripts for MITD1 Gene

mRNA/cDNA for MITD1 Gene

4 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MITD1

Alternative Splicing Database (ASD) splice patterns (SP) for MITD1 Gene

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:

Relevant External Links for MITD1 Gene

GeneLoc Exon Structure for
MITD1

Expression for MITD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MITD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MITD1 Gene

This gene is overexpressed in Urine (41.0) and Breast (20.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MITD1 Gene



Protein tissue co-expression partners for MITD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MITD1

SOURCE GeneReport for Unigene cluster for MITD1 Gene:

Hs.14222

Evidence on tissue expression from TISSUES for MITD1 Gene

  • Nervous system(4.4)
  • Spleen(2)
genes like me logo Genes that share expression patterns with MITD1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MITD1 Gene

Orthologs for MITD1 Gene

This gene was present in the common ancestor of animals.

Orthologs for MITD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MITD1 30 31
  • 99.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MITD1 30 31
  • 86.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mitd1 30 17 31
  • 84.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MITD1 31
  • 84 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mitd1 30
  • 83.67 (n)
Oppossum
(Monodelphis domestica)
Mammalia MITD1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MITD1 30 31
  • 72.46 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MITD1 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mitd1 30
  • 70.51 (n)
Zebrafish
(Danio rerio)
Actinopterygii mitd1 30 31
  • 69.37 (n)
OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006789 30
  • 48.99 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG14985 30 31
  • 46.4 (n)
OneToMany
CG30398 31
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y66D12A.10 30 31
  • 47.15 (n)
OneToOne
Species where no ortholog for MITD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MITD1 Gene

ENSEMBL:
Gene Tree for MITD1 (if available)
TreeFam:
Gene Tree for MITD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MITD1: view image

Paralogs for MITD1 Gene

(1) SIMAP similar genes for MITD1 Gene using alignment to 4 proteins:

  • MITD1_HUMAN
  • B8ZZL5_HUMAN
  • F8WED5_HUMAN
  • H7C3Q6_HUMAN
genes like me logo Genes that share paralogs with MITD1: view

No data available for Paralogs for MITD1 Gene

Variants for MITD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MITD1 Gene

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

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MITD1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MITD1 Gene

Variant ID Type Subtype PubMed ID
esv3591732 CNV gain 21293372

Variation tolerance for MITD1 Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.03; 21.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MITD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MITD1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MITD1 Gene

Disorders for MITD1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MITD1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lipoyltransferase 1 deficiency
  • lipt1d
omodysplasia
  • omodysplasia type 1
- elite association - COSMIC cancer census association via MalaCards
Search MITD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MITD1

genes like me logo Genes that share disorders with MITD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MITD1 Gene

Publications for MITD1 Gene

  1. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. (PMID: 16730941) Tsang HT … Sanderson CM (Genomics 2006) 2 3 4
  2. ESCRT-III binding protein MITD1 is involved in cytokinesis and has an unanticipated PLD fold that binds membranes. (PMID: 23045692) Hadders MA … Martin-Serrano J (Proceedings of the National Academy of Sciences of the United States of America 2012) 3 4
  3. MITD1 is recruited to midbodies by ESCRT-III and participates in cytokinesis. (PMID: 23015756) Lee S … Blackstone C (Molecular biology of the cell 2012) 3 4
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for MITD1 Gene

Sources for MITD1 Gene