DYNLRB1 dynein light chain roadblock-type 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DYNLRB1provided by HGNC
Official Full Name: dynein light chain roadblock-type 1provided by HGNC
Primary source: HGNC:HGNC:15468
See related: Ensembl:ENSG00000125971 MIM:607167; AllianceGenome:HGNC:15468
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: BLP; BITH; DNCL2A; DNLC2A; ROBLD1
Summary: This gene is a member of the roadblock dynein light chain family. The encoded cytoplasmic protein is capable of binding intermediate chain proteins, interacts with transforming growth factor-beta, and has been implicated in the regulation of actin modulating proteins. Upregulation of this gene has been associated with hepatocellular carcinomas, suggesting that this gene may be involved in tumor progression. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 12 and 18. [provided by RefSeq, Aug 2013]
Expression: Ubiquitous expression in brain (RPKM 34.0), kidney (RPKM 31.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (34515602..34540958)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (36238779..36264135)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (33103407..33128762)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Human colorectal carcinoma cells display decreased tumor progression and invasion when a novel anti-cell motility target, DYNLRB1, is being silenced.
Title: Decreased tumor progression and invasion by a novel anti-cell motility target for human colorectal carcinoma cells.
TGFbeta regulates km23-1 interaction with the R1beta regulatory subunit of protein kinase A.
Title: Requirement for protein kinase A in the phosphorylation of the TGFβ receptor-interacting protein km23-1 as a component of TGFβ downstream effects.
these findings demonstrate that km23-1 regulates RhoA and motility-associated actin modulating proteins, suggesting that km23-1 may represent a novel target for anti-metastatic therapy.
Title: Role of km23-1 in RhoA/actin-based cell migration.
km23-1 is required for TGFbeta1 autoinduction through Smad2-independent Ras/ERK/JNK pathways
Title: The TGFβ receptor-interacting protein km23-1/DYNLRB1 plays an adaptor role in TGFβ1 autoinduction via its association with Ras.
Findings indicate that km23-2 (DYNLRB2) is required for Smad3-dependent TGFbeta signaling. Km23-2 has functions in TGFbeta signaling that are distinct from those for km23-1 (DYNLRB1).
Title: Requirement of a dynein light chain in TGFbeta/Smad3 signaling.
Identification of dynein light chain road block-1 as a novel interaction partner with the human reduced folate carrier.
Title: Identification of dynein light chain road block-1 as a novel interaction partner with the human reduced folate carrier.
DYNLRB1 specifically interacts with all three Rab6 isoforms and co-localises at the Golgi.
Title: Rab6 family proteins interact with the dynein light chain protein DYNLRB1.
Silencing of km23, either through somatic genetic mutation or promoter hypermethylation, is rare in ovarian, breast, and colorectal cancers.
Title: Genetic and epigenetic analysis of the putative tumor suppressor km23 in primary ovarian, breast, and colorectal cancers.
Infrequently mutated in human colorectal and gastric cancers.
Title: km23, a transforming growth factor-beta signaling component, is infrequently mutated in human colorectal and gastric cancers.
report the 2.1-A crystal structure of Dnlc2A using single anomalous diffraction
Title: Crystal structure of human dynein light chain Dnlc2A: structural insights into the interaction with IC74.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-53176 (e-PCR)
- UniSTS:51821

RH41781 (e-PCR)
- UniSTS:58753

Z94403 (e-PCR)
- UniSTS:57308

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables dynein intermediate chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule motor activity	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in microtubule-based movement	IBA Inferred from Biological aspect of Ancestor more info
involved_in microtubule-based movement	NAS Non-traceable Author Statement more info	PubMed
involved_in visual behavior	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary tip	TAS Traceable Author Statement more info
located_in cilium	TAS Traceable Author Statement more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
part_of cytoplasmic dynein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of cytoplasmic dynein complex	ISS Inferred from Sequence or Structural Similarity more info
part_of cytoplasmic dynein complex	NAS Non-traceable Author Statement more info	PubMed
part_of dynein complex	IPI Inferred from Physical Interaction more info	PubMed
located_in membrane	HDA more info	PubMed
located_in microtubule	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynein light chain roadblock-type 1

Names: ROBL/LC7-like 1; bithoraxoid-like protein; dynein, cytoplasmic, light polypeptide 2A; dynein-associated protein Km23; roadblock domain-containing protein 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_001319157.2 → NP_001306086.1 dynein light chain roadblock-type 1 isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an exon and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) is longer and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AL109923, AL136173

UniProtKB/TrEMBL

B4DFR2

Conserved Domains (1) summary

smart00960
Location:4 → 87

Robl_LC7; Roadblock/LC7 domain
NM_001382365.1 → NP_001369294.1 dynein light chain roadblock-type 1 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (8), as well as variant 1, encodes isoform a.

Source sequence(s)

AL109923, AL136173

Consensus CDS

CCDS13235.1

UniProtKB/Swiss-Prot

B1AKR5, Q5TC72, Q96IV3, Q9NP97, Q9NQM2

Conserved Domains (1) summary

pfam03259
Location:3 → 93

Robl_LC7; Roadblock/LC7 domain
NM_001382366.1 → NP_001369295.1 dynein light chain roadblock-type 1 isoform e

Status: REVIEWED

Source sequence(s)

AL109923, AL136173

Conserved Domains (1) summary

pfam03259
Location:3 → 91

Robl_LC7; Roadblock/LC7 domain
NM_001382367.1 → NP_001369296.1 dynein light chain roadblock-type 1 isoform f

Status: REVIEWED

Source sequence(s)

AL109923, AL136173

Conserved Domains (1) summary

pfam03259
Location:3 → 83

Robl_LC7; Roadblock/LC7 domain
NM_014183.4 → NP_054902.1 dynein light chain roadblock-type 1 isoform a

See identical proteins and their annotated locations for NP_054902.1

Status: REVIEWED

Description

Transcript Variant: This variant (1), as well as variant 8, encodes isoform a.

Source sequence(s)

AL109923, AL136173

Consensus CDS

CCDS13235.1

UniProtKB/Swiss-Prot

B1AKR5, Q5TC72, Q96IV3, Q9NP97, Q9NQM2

Related

ENSP00000349679.2, ENST00000357156.7

Conserved Domains (1) summary

pfam03259
Location:3 → 93

Robl_LC7; Roadblock/LC7 domain

RNA

NR_104032.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173
NR_168131.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173

Related

ENST00000696986.1
NR_168132.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173
NR_168133.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173
NR_168134.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173

Related

ENST00000480759.1
NR_168136.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173
NR_168137.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173
NR_168138.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173
NR_168139.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AL109923, AL136173

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_000020.11 Reference GRCh38.p14 Primary Assembly

Range

34515602..34540958

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

36238779..36264135

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_177954.1: Suppressed sequence

Description

NM_177954.1: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.