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

Gene ID: 129531, updated on 17-Sep-2024

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 AllianceGenome:HGNC:25207
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
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Genomic context

See MITD1 in Genome Data Viewer
Location:
2q11.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (99161427..99181058, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (99620306..99639936, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (99785726..99797521, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene testis specific 10 Neighboring gene SMC3 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11806 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99758101-99758907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:99771037-99771658 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16276 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16277 Neighboring gene chromosome 2 open reading frame 15 Neighboring gene lipoyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16279 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16280 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:99797856-99798028 Neighboring gene mitochondrial ribosomal protein L30 Neighboring gene lysozyme g2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
EBI GWAS 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

Gene Ontology Provided by GOA

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

NEW Try the new Transcript table

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; 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_001320418.2NP_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/TrEMBL
    B8ZZL5
    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/TrEMBL
    B8ZZL5
    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
    Q69YV0, Q8WV92
    UniProtKB/TrEMBL
    H7C3Q6
    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: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    99161427..99181058 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003314.3XP_016858803.1  MIT domain-containing protein 1 isoform X3

  2. XM_011510581.4XP_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_047443276.1XP_047299232.1  MIT domain-containing protein 1 isoform X2

  4. XM_017003315.3XP_016858804.1  MIT domain-containing protein 1 isoform X4

    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.
    cd02685
    Location:122256
    MIT_C; domain found C-terminal to MIT (contained within Microtubule Interacting and Trafficking molecules) domains, as well as in some bacterial proteins. The function of this domain is unknown.
  5. XM_047443277.1XP_047299233.1  MIT domain-containing protein 1 isoform X5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    99620306..99639936 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340482.1XP_054196457.1  MIT domain-containing protein 1 isoform X3

  2. XM_054340480.1XP_054196455.1  MIT domain-containing protein 1 isoform X1

  3. XM_054340481.1XP_054196456.1  MIT domain-containing protein 1 isoform X2

  4. XM_054340483.1XP_054196458.1  MIT domain-containing protein 1 isoform X4

  5. XM_054340484.1XP_054196459.1  MIT domain-containing protein 1 isoform X5