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MITD1 microtubule interacting and trafficking domain containing 1 [ Homo sapiens (human) ]

Gene ID: 129531, updated on 17-Jun-2019

Summary

Official Symbol
MITD1provided by HGNC
Official Full Name
microtubule interacting and trafficking domain containing 1provided by HGNC
Primary source
HGNC:HGNC:25207
See related
Ensembl:ENSG00000158411
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 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]
Expression
Ubiquitous expression in lymph node (RPKM 12.5), appendix (RPKM 10.4) and 25 other tissues See more
Orthologs

Genomic context

See MITD1 in Genome Data Viewer
Location:
2q11.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (99161427..99181061, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99785726..99797524, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene testis specific 10 Neighboring gene structural maintenance of chromosomes 3 pseudogene Neighboring gene chromosome 2 open reading frame 15 Neighboring gene lipoyltransferase 1 Neighboring gene mitochondrial ribosomal protein L30 Neighboring gene lysozyme g2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev is identified to have a physical interaction with microtubule interacting and transport, domain containing 1 (MITD1) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
midbody abscission IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic cytokinesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT multivesicular body sorting pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT viral budding via host ESCRT complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
extrinsic component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with midbody IDA
Inferred from Direct Assay
more info
PubMed 
midbody IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
MIT domain-containing protein 1
Names
MIT, microtubule interacting and transport, domain containing 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001320417.2NP_001307346.1  MIT domain-containing protein 1 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 5' end compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AK311658, BC018453, DA109248
    UniProtKB/Swiss-Prot
    Q8WV92
    Conserved Domains (2) summary
    pfam16565
    Location:32174
    MIT_C; Phospholipase D-like domain at C-terminus of MIT
    cl00299
    Location:118
    MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
  2. NM_001320418.1NP_001307347.1  MIT domain-containing protein 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) retains an intron in the 3' end compared to variant 1. The resulting isoform (3) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC092587, BC018453, BU507044, DA109248
    UniProtKB/Swiss-Prot
    Q8WV92
    Conserved Domains (2) summary
    cd02683
    Location:1086
    MIT_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in proteins with unknown function, co-occuring with an as yet undescribed domain. The molecular function of the MIT domain is unclear.
    pfam16565
    Location:100235
    MIT_C; Phospholipase D-like domain at C-terminus of MIT
  3. NM_001320419.2NP_001307348.1  MIT domain-containing protein 1 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC018453, BG504564, DA109248
    UniProtKB/Swiss-Prot
    Q8WV92
    Related
    ENSP00000387316.1, ENST00000409107.1
    Conserved Domains (2) summary
    cd02683
    Location:1086
    MIT_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in proteins with unknown function, co-occuring with an as yet undescribed domain. The molecular function of the MIT domain is unclear.
    pfam16565
    Location:100213
    MIT_C; Phospholipase D-like domain at C-terminus of MIT
  4. NM_138798.3NP_620153.1  MIT domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_620153.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC018453, DA109248
    Consensus CDS
    CCDS2040.1
    UniProtKB/Swiss-Prot
    Q8WV92
    Related
    ENSP00000289359.2, ENST00000289359.6
    Conserved Domains (2) summary
    cd02683
    Location:1086
    MIT_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in proteins with unknown function, co-occuring with an as yet undescribed domain. The molecular function of the MIT domain is unclear.
    pfam16565
    Location:100242
    MIT_C; Phospholipase D-like domain at C-terminus of MIT

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    99161427..99181061 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003314.2XP_016858803.1  MIT domain-containing protein 1 isoform X3

  2. XM_011510581.3XP_011508883.1  MIT domain-containing protein 1 isoform X1

    Conserved Domains (2) summary
    cd02683
    Location:35111
    MIT_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in proteins with unknown function, co-occuring with an as yet undescribed domain. The molecular function of the MIT domain is unclear.
    pfam16565
    Location:125246
    MIT_C; Phospholipase D-like domain at C-terminus of MIT
  3. XM_011510582.3XP_011508884.1  MIT domain-containing protein 1 isoform X2

    Conserved Domains (2) summary
    cd02683
    Location:35111
    MIT_1; MIT: domain contained within Microtubule Interacting and Trafficking molecules. This sub-family of MIT domains is found in proteins with unknown function, co-occuring with an as yet undescribed domain. The molecular function of the MIT domain is unclear.
    pfam16565
    Location:125247
    MIT_C; Phospholipase D-like domain at C-terminus of MIT
  4. XM_011510583.1XP_011508885.1  MIT domain-containing protein 1 isoform X5

    Conserved Domains (2) summary
    pfam16565
    Location:32153
    MIT_C; Phospholipase D-like domain at C-terminus of MIT
    cl00299
    Location:118
    MIT; MIT: domain contained within Microtubule Interacting and Trafficking molecules. The MIT domain is found in sorting nexins, the nuclear thiol protease PalBH, the AAA protein spastin and archaebacterial proteins with similar domain architecture, vacuolar ...
  5. XM_017003315.2XP_016858804.1  MIT domain-containing protein 1 isoform X4

RNA

  1. XR_001738612.1 RNA Sequence

  2. XR_001738611.2 RNA Sequence

    Related
    ENST00000413710.2
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