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

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: mouse all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Microtubule interacting and trafficking domain containing 1 deficiency leads to poor survival via tissue factor-mediated coagulation in bladder cancer.
Title: Microtubule interacting and trafficking domain containing 1 deficiency leads to poor survival via tissue factor-mediated coagulation in bladder cancer.
Pan-Cancer Analysis of the Prognostic and Immunotherapeutic Value of MITD1.
Title: Pan-Cancer Analysis of the Prognostic and Immunotherapeutic Value of MITD1.
MITD1 Deficiency Suppresses Clear Cell Renal Cell Carcinoma Growth and Migration by Inducing Ferroptosis through the TAZ/SLC7A11 Pathway.
Title: MITD1 Deficiency Suppresses Clear Cell Renal Cell Carcinoma Growth and Migration by Inducing Ferroptosis through the TAZ/SLC7A11 Pathway.
Prognostic Impact of MITD1 and Associates With Immune Infiltration in Kidney Renal Clear Cell Carcinoma.
Title: Prognostic Impact of MITD1 and Associates With Immune Infiltration in Kidney Renal Clear Cell Carcinoma.
Evaluating the biological functions of the prognostic genes identified by the Pathology Atlas in bladder cancer.
Title: Evaluating the biological functions of the prognostic genes identified by the Pathology Atlas in bladder cancer.
MITD1 participates in the abscission phase of cytokinesis and ESCRT-III subunits are important for the recruitment of MITD1 to the midbody.
Title: MITD1 is recruited to midbodies by ESCRT-III and participates in cytokinesis.
results suggest a model whereby MITD1 coordinates the activity of ESCRT-III during abscission with earlier events in the final stages of cell division
Title: ESCRT-III binding protein MITD1 is involved in cytokinesis and has an unanticipated PLD fold that binds membranes.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

L18506 (e-PCR)
- UniSTS:54024

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

PMC156606P1 (e-PCR)
- UniSTS:271408

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 more info	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

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Preferred Names: MIT domain-containing protein 1

Names: MIT, microtubule interacting and transport, domain containing 1

NCBI Reference Sequences (RefSeq)

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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)

NM_001320417.2 → NP_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:32 → 174

MIT_C; Phospholipase D-like domain at C-terminus of MIT

cl00299
Location:1 → 18

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 ...
NM_001320418.2 → NP_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:10 → 86

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:100 → 235

MIT_C; Phospholipase D-like domain at C-terminus of MIT
NM_001320419.2 → NP_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:10 → 86

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:100 → 213

MIT_C; Phospholipase D-like domain at C-terminus of MIT
NM_138798.3 → NP_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:10 → 86

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:100 → 242

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

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

99161427..99181058 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017003314.3 → XP_016858803.1 MIT domain-containing protein 1 isoform X3
XM_011510581.4 → XP_011508883.1 MIT domain-containing protein 1 isoform X1

Conserved Domains (2) summary

cd02683
Location:35 → 111

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:125 → 246

MIT_C; Phospholipase D-like domain at C-terminus of MIT
XM_047443276.1 → XP_047299232.1 MIT domain-containing protein 1 isoform X2
XM_017003315.3 → XP_016858804.1 MIT domain-containing protein 1 isoform X4

Conserved Domains (2) summary

cd02683
Location:35 → 111

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:122 → 256

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.
XM_047443277.1 → XP_047299233.1 MIT domain-containing protein 1 isoform X5