DYNLT1 dynein light chain Tctex-type 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DYNLT1provided by HGNC
Official Full Name: dynein light chain Tctex-type 1provided by HGNC
Primary source: HGNC:HGNC:11697
See related: Ensembl:ENSG00000146425 MIM:601554; AllianceGenome:HGNC:11697
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
Also known as: CW-1; TCTEL1; TCTEX1; tctex-1
Summary: This gene encodes a component of the motor complex, cytoplasmic dynein, which transports cellular cargo along microtubules in the cell. The encoded protein regulates the length of primary cilia which are sensory organelles found on the surface of cells. The protein encoded by this gene interacts with viral proteins, like the minor capsid protein L2 of human papillomavirus, and is required for dynein-mediated delivery of the viral nucleic acid to the host nucleus. This protein interacts with oncogenic nucleoporins to disrupt gene regulation and cause leukemic transformation. Pseudogenes of this gene are present on chromosomes 4 and 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]
Expression: Ubiquitous expression in testis (RPKM 62.3), colon (RPKM 58.0) and 25 other tissues See more
Orthologs: all
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Genomic context

Location:: 6q25.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (158636474..158644743, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (159881698..159889969, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (159057506..159065775, complement)

Chromosome 6 - NC_000006.12 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: 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DYNLT1 gene expression is downregulated in whole blood of patients at different Huntington's disease stages.
Title: DYNLT1 gene expression is downregulated in whole blood of patients at different Huntington's disease stages.
Beclin1 mRNA and protein were significantly increased in spermatozoa from infertile patients of different etiologies in comparison to healthy controls. However, DYNLT1 mRNA expression was significantly decreased in infertile groups than controls. Mature spermatozoa extracted from all studied subjects showed increased DYNLT1 mRNA and decreased Beclin1 mRNA and protein expression compared with the whole sample.
Title: Relationship between DYNLT1 and Beclin1 expression and the fertilising potential of human spermatozoa.
expression of Tctex-1 T94E did not influence KIM-1-mediated efferocytosis
Title: Tctex-1, a novel interaction partner of Kidney Injury Molecule-1, is required for efferocytosis.
MAP4 and Tctex-1 play important roles in regulating the migration of epidermal cells under hypoxia.
Title: MAP4 regulates Tctex-1 and promotes the migration of epidermal cells in hypoxia.
siRNA silencing of Tctex1 suppressed cellular viability and promoted cell apoptosis. Protein and mRNA expression of Tctex1 and dynein decreased after Tctex1 knockdown, whereas alpha-synuclein, LC3-II, and LAMP2 increased. Consistently, fluorescence intensity of Tctex1 was weaker in siRNA-Tctex1-transfected cells, and that of alpha-synuclein, LC3-II, and LAMP2 was increased.
Title: Silencing of Tctex1 impairs autophagy lysosomal degradation of α-synuclein and cell viability.
Tctex1 overexpression promoted autophagy lysosome fusion and effectively degraded alpha-synuclein with increased cell activity
Title: Tctex1 plays a key role in the α-synuclein autophagy lysosomal degradation pathway.
Desmosomal cadherin association with Tctex-1 and cortactin-Arp2/3 drives perijunctional actin polymerization to promote keratinocyte delamination.
Title: Desmosomal cadherin association with Tctex-1 and cortactin-Arp2/3 drives perijunctional actin polymerization to promote keratinocyte delamination.
results support a model in which phospho(T94)Tctex-1-regulated actin polymerization and periciliary endocytosis play an active role in orchestrating the initial phase of ciliary resorption
Title: Tctex-1 controls ciliary resorption by regulating branched actin polymerization and endocytosis.
DYNLT1 interacts with nucleoporins and plays a role in the dysregulation of gene expression and induction of hematopoietic cell proliferation by the leukemogenic nucleoporin fusion, NUP98-HOXA9
Title: Dynein Light Chain 1 (DYNLT1) Interacts with Normal and Oncogenic Nucleoporins.
activin receptor IIB as a novel DYNLT1 ligand and suggest that DYNLT1 functions as a molecular dimerization engine bringing together two receptor monomers in the cytoplasmic side of the membrane.
Title: Molecular Basis for the Protein Recognition Specificity of the Dynein Light Chain DYNLT1/Tctex1: CHARACTERIZATION OF THE INTERACTION WITH ACTIVIN RECEPTOR IIB.

Submit: New GeneRIF Correction See all GeneRIFs (29)

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

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
Vpr	vpr	HIV-1 Vpr interacts with DYNLT1 (HIV-1 Vpr F72L mutant has impaired interaction with DYNLT1)	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

G32210 (e-PCR)
- UniSTS:116817

D15S1477 (e-PCR)
- UniSTS:474482

D1S1425 (e-PCR)
- UniSTS:149621

D16S325 (e-PCR)
- UniSTS:147089

A005A07 (e-PCR)
- UniSTS:5624

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in establishment of mitotic spindle orientation	ISS Inferred from Sequence or Structural Similarity more info
involved_in intracellular transport of viral protein in host cell	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-dependent intracellular transport of viral material towards nucleus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in regulation of G protein-coupled receptor signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in symbiont entry into host cell	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
part_of cytoplasmic dynein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cytoplasmic dynein complex	IDA Inferred from Direct Assay more info	PubMed
part_of cytoplasmic dynein complex	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasmic microtubule	IDA Inferred from Direct Assay more info	PubMed
part_of dynein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in host cell	IEA Inferred from Electronic Annotation more info
located_in secretory granule lumen	TAS Traceable Author Statement more info
located_in secretory vesicle	IDA Inferred from Direct Assay more info	PubMed
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynein light chain Tctex-type 1

Names: T-complex testis-specific protein 1 homolog; t-complex-associated-testis-expressed 1-like 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_001291602.2 → NP_001278531.1 dynein light chain Tctex-type 1 isoform 2

See identical proteins and their annotated locations for NP_001278531.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

BU675683, HY017024, HY171700

Conserved Domains (1) summary

cd21462
Location:8 → 99

DLC-like_DYNLT1; dynein light chain (DLC)-like domain found in dynein light chain Tctex-type 1 (DYNLT1) and similar proteins
NM_001291603.2 → NP_001278532.1 dynein light chain Tctex-type 1 isoform 3

See identical proteins and their annotated locations for NP_001278532.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region which results in a frameshift compared to variant 1. The encoded isoform (3) has a distinct C-terminus and is shorter than isoform 1.

Source sequence(s)

AL589931, AL591025, BU675683, DN915418, HY017024, HY171700

Conserved Domains (1) summary

pfam03645
Location:16 → 64

Tctex-1; Tctex-1 family
NM_006519.4 → NP_006510.1 dynein light chain Tctex-type 1 isoform 1

See identical proteins and their annotated locations for NP_006510.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AL589931, BC105588, BU675683, HY171700

Consensus CDS

CCDS5257.1

UniProtKB/Swiss-Prot

P63172, Q15763, Q5VTU4

Related

ENSP00000356056.3, ENST00000367089.8

Conserved Domains (1) summary

cd21462
Location:12 → 113

DLC-like_DYNLT1; dynein light chain (DLC)-like domain found in dynein light chain Tctex-type 1 (DYNLT1) and similar proteins