DNM3 dynamin 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNM3provided by HGNC
Official Full Name: dynamin 3provided by HGNC
Primary source: HGNC:HGNC:29125
See related: Ensembl:ENSG00000197959 MIM:611445; AllianceGenome:HGNC:29125
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: Dyna III
Summary: This gene encodes a member of a family of guanosine triphosphate (GTP)-binding proteins that associate with microtubules and are involved in vesicular transport. The encoded protein functions in the development of megakaryocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Expression: Biased expression in brain (RPKM 10.0), adrenal (RPKM 2.5) and 8 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q24.3

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (171841498..172418466)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (171198091..171775179)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (171810638..172387606)

Chromosome 1 - NC_000001.11 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?

Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.
Title: Integrated multi-omic analysis of low-grade ovarian serous carcinoma collected from short and long-term survivors.
Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
Title: Analysis of DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease.
TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma.
Title: TBX15 rs98422, DNM3 rs1011731, RAD51B rs8017304, and rs2588809 Gene Polymorphisms and Associations With Pituitary Adenoma.
The Expression of Dynamin 1, 2, and 3 in Human Hepatocellular Carcinoma and Patient Prognosis.
Title: The Expression of Dynamin 1, 2, and 3 in Human Hepatocellular Carcinoma and Patient Prognosis.
DNM3 mutation was not associated with age of Parkinson's disease onset in LRRK2 risk variant carriers and non-carriers in Chinese samples
Title: No association of DNM3 with age of onset in Asian Parkinson's disease.
There is no evidence of an association between DNM3 variants and age at onset in idiopathic Parkinson's disease.
Title: No evidence for DNM3 as genetic modifier of age at onset in idiopathic Parkinson's disease.
In glioma, elevated miR-221 expression is a biomarker for glioma. DNM3 is a target of miR-221 and RELA regulates miR-221 expression.
Title: Exosomal miR-221 targets DNM3 to induce tumor progression and temozolomide resistance in glioma.
Genetic variability in DNM3 modifies age of onset for LRRK2 Gly2019Ser parkinsonism.
Title: DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.
DNM3 may be involved in risk of obsessive-compulsive disorder.
Title: Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia.
Microdeletion of DNM3 harboring miR199 and miR214 is associated with skeletal abnormalities.
Title: Two further patients with the 1q24 deletion syndrome expand the phenotype: A possible role for the miR199-214 cluster in the skeletal features of the condition.

Submit: New GeneRIF Correction See all GeneRIFs (21)

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
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. EBI GWAS Catalog EBI GWAS CatalogPubMed
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
New gene functions in megakaryopoiesis and platelet formation. 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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Replication interactions

Interaction	Pubs
Knockdown of DNM3 by shRNA significantly inhibits HIV-1 replication in CD4+ T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Pr55(Gag)	gag	Dynamin-dependent endocytosis is required for intracellular accumulation of HIV-1 Gag in the presence of HLA-DR	PubMed
	gag	HIV-1 Gag co-localizes with dynamin in primary T lymphocytes	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

G42287 (e-PCR)
- UniSTS:93960

RH122029 (e-PCR)
- UniSTS:134665

SHGC-75910 (e-PCR)
- UniSTS:25102

G42300 (e-PCR)
- UniSTS:93973

G42301 (e-PCR)
- UniSTS:93974

G42305 (e-PCR)
- UniSTS:93978

G42306 (e-PCR)
- UniSTS:93979

G42307 (e-PCR)
- UniSTS:93980

G42308 (e-PCR)
- UniSTS:93981

G42309 (e-PCR)
- UniSTS:93982

G42310 (e-PCR)
- UniSTS:93983

RH121794 (e-PCR)
- UniSTS:134944

RH98443 (e-PCR)
- UniSTS:90400

G42312 (e-PCR)
- UniSTS:93985

G19683 (e-PCR)
- UniSTS:28712

A001V21 (e-PCR)
- UniSTS:28713

RH28587 (e-PCR)
- UniSTS:87610

WI-3733 (e-PCR)
- UniSTS:2120

SHGC-75906 (e-PCR)
- UniSTS:77918

D1S3590 (e-PCR)
- UniSTS:33919

RH121543 (e-PCR)
- UniSTS:134284

SHGC-83574 (e-PCR)
- UniSTS:101775

SHGC-147432 (e-PCR)
- UniSTS:175805

D1S1717 (e-PCR)
- UniSTS:149996

SHGC-75905 (e-PCR)
- UniSTS:78330

G42274 (e-PCR)
- UniSTS:93947

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IEA Inferred from Electronic Annotation more info
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	ISS Inferred from Sequence or Structural Similarity more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables nitric-oxide synthase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase binding	IEA Inferred from Electronic Annotation more info
enables structural constituent of postsynapse	IEA Inferred from Electronic Annotation more info
enables type 1 metabotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables type 5 metabotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in endocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in filopodium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of dendritic spine morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of filopodium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of synaptic vesicle recycling	IEA Inferred from Electronic Annotation more info
involved_in postsynapse organization	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation more info
involved_in receptor internalization	IBA Inferred from Biological aspect of Ancestor more info
involved_in synapse assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in synaptic vesicle budding from presynaptic endocytic zone membrane	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of apical tubulobulbar complex	IEA Inferred from Electronic Annotation more info
located_in axon	IEA Inferred from Electronic Annotation more info
part_of basal tubulobulbar complex	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	ISS Inferred from Sequence or Structural Similarity more info
located_in dendritic spine head	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
located_in glutamatergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in microtubule	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in postsynaptic density	ISS Inferred from Sequence or Structural Similarity more info
located_in postsynaptic endocytic zone membrane	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
is_active_in synapse	IBA Inferred from Biological aspect of Ancestor more info
located_in synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynamin-3

Names: T-dynamin; dynamin family member; dynamin, testicular

NP_001129599.1

EC 3.6.5.5

NP_001265181.1

EC 3.6.5.5

NP_001337133.1

EC 3.6.5.5

NP_001337134.1

EC 3.6.5.5

NP_001337135.1

EC 3.6.5.5

NP_056384.2

EC 3.6.5.5

XP_005245136.1

EC 3.6.5.5

XP_016856465.1

EC 3.6.5.5

XP_016856466.1

EC 3.6.5.5

XP_016856467.1

EC 3.6.5.5

XP_016856468.1

EC 3.6.5.5

XP_016856469.1

EC 3.6.5.5

XP_016856471.1

EC 3.6.5.5

XP_016856473.1

EC 3.6.5.5

XP_016856474.1

EC 3.6.5.5

XP_016856475.1

EC 3.6.5.5

XP_016856477.1

EC 3.6.5.5

XP_016856478.1

EC 3.6.5.5

XP_016856480.1

EC 3.6.5.5

XP_016856481.1

EC 3.6.5.5

XP_047273345.1

EC 3.6.5.5

XP_047273351.1

EC 3.6.5.5

XP_047273355.1

EC 3.6.5.5

XP_047273365.1

EC 3.6.5.5

XP_047273373.1

EC 3.6.5.5

XP_054191855.1

EC 3.6.5.5

XP_054191856.1

EC 3.6.5.5

XP_054191857.1

EC 3.6.5.5

XP_054191858.1

EC 3.6.5.5

XP_054191859.1

EC 3.6.5.5

XP_054191860.1

EC 3.6.5.5

XP_054191861.1

EC 3.6.5.5

XP_054191862.1

EC 3.6.5.5

XP_054191863.1

EC 3.6.5.5

XP_054191864.1

EC 3.6.5.5

XP_054191865.1

EC 3.6.5.5

XP_054191866.1

EC 3.6.5.5

XP_054191867.1

EC 3.6.5.5

XP_054191868.1

EC 3.6.5.5

XP_054191869.1

EC 3.6.5.5

XP_054191870.1

EC 3.6.5.5

XP_054191871.1

EC 3.6.5.5

XP_054191872.1

EC 3.6.5.5

XP_054191873.1

EC 3.6.5.5

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_001136127.3 → NP_001129599.1 dynamin-3 isoform b

See identical proteins and their annotated locations for NP_001129599.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (b) is shorter than isoform a.

Source sequence(s)

AB020627, AL035110, AL136712, BC037326, DC334207, Z97195

Consensus CDS

CCDS44276.1

UniProtKB/Swiss-Prot

Q9UQ16

Related

ENSP00000356705.1, ENST00000367731.5

Conserved Domains (6) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

COG0699
Location:79 → 728

CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]

cd01256
Location:514 → 625

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:217 → 502

Dynamin_M; Dynamin central region

pfam02212
Location:647 → 735

GED; Dynamin GTPase effector domain

cl22974
Location:762 → 822

HpaP; Type III secretion protein (HpaP)
NM_001278252.2 → NP_001265181.1 dynamin-3 isoform c

See identical proteins and their annotated locations for NP_001265181.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks multiple 3' coding exons and contains an alternate 3' exon, resulting in a distinct 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

BC064546, DC334207

Consensus CDS

CCDS60356.1

UniProtKB/TrEMBL

B3KPF2

Related

ENSP00000356707.2, ENST00000367733.6

Conserved Domains (3) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

pfam01031
Location:216 → 501

Dynamin_M; Dynamin central region

cl17171
Location:514 → 553

PH-like; Pleckstrin homology-like domain
NM_001350204.2 → NP_001337133.1 dynamin-3 isoform d

Status: REVIEWED

Source sequence(s)

AB020627, AL035110, AL136712, AL512843, BC037326, DC334207, Z97195

Consensus CDS

CCDS86032.1

UniProtKB/Swiss-Prot

A9Z1Y1, O14982, O95555, Q1MTM8, Q5W129, Q6P2G1, Q9H0P3, Q9H548, Q9NQ68, Q9NQN6, Q9UQ16

Related

ENSP00000347457.5, ENST00000355305.9

Conserved Domains (5) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

cd01256
Location:526 → 635

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:216 → 501

Dynamin_M; Dynamin central region

pfam02212
Location:657 → 745

GED; Dynamin GTPase effector domain

cl26464
Location:754 → 841

Atrophin-1; Atrophin-1 family
NM_001350205.2 → NP_001337134.1 dynamin-3 isoform e

Status: REVIEWED

Source sequence(s)

AL512843, BC064546, DC334207

UniProtKB/TrEMBL

B3KPF2

Conserved Domains (3) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

pfam01031
Location:216 → 501

Dynamin_M; Dynamin central region

cl17171
Location:526 → 563

PH-like; Pleckstrin homology-like domain
NM_001350206.2 → NP_001337135.1 dynamin-3 isoform f

Status: REVIEWED

Source sequence(s)

AB020627, AL035110, AL512843, CA445187, DC334207

Consensus CDS

CCDS91107.1

UniProtKB/TrEMBL

H0YBC6

Related

ENSP00000429165.2, ENST00000485254.3

Conserved Domains (5) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

cd01256
Location:526 → 635

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:216 → 501

Dynamin_M; Dynamin central region

pfam02212
Location:657 → 745

GED; Dynamin GTPase effector domain

cl26464
Location:754 → 838

Atrophin-1; Atrophin-1 family
NM_015569.5 → NP_056384.2 dynamin-3 isoform a

See identical proteins and their annotated locations for NP_056384.2

Status: REVIEWED

Description

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

Source sequence(s)

AB020627, AL035110, AL136712, BC037326, DC334207, Z97195

Consensus CDS

CCDS53431.1

UniProtKB/Swiss-Prot

Q9UQ16

Related

ENSP00000486701.1, ENST00000627582.3

Conserved Domains (6) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

COG0699
Location:79 → 732

CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]

cd01256
Location:514 → 625

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:217 → 502

Dynamin_M; Dynamin central region

pfam02212
Location:651 → 739

GED; Dynamin GTPase effector domain

cl22974
Location:766 → 826

HpaP; Type III secretion protein (HpaP)

RNA

NR_146559.2 RNA Sequence

Status: REVIEWED

Source sequence(s)

AB020627, AL035110, AL136712, AL512843, BC037326, DC334207, Z97195

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

171841498..172418466

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017000979.2 → XP_016856468.1 dynamin-3 isoform X4
XM_017000984.2 → XP_016856473.1 dynamin-3 isoform X8
XM_047417389.1 → XP_047273345.1 dynamin-3 isoform X10
XM_017000976.2 → XP_016856465.1 dynamin-3 isoform X1
XM_017000977.2 → XP_016856466.1 dynamin-3 isoform X2
XM_005245079.2 → XP_005245136.1 dynamin-3 isoform X6

UniProtKB/Swiss-Prot

Q9UQ16

Conserved Domains (6) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

COG0699
Location:79 → 742

CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]

cd01256
Location:526 → 635

PH_dynamin; Dynamin pleckstrin homology (PH) domain

pfam01031
Location:217 → 502

Dynamin_M; Dynamin central region

pfam02212
Location:661 → 749

GED; Dynamin GTPase effector domain

cl22974
Location:776 → 836

HpaP; Type III secretion protein (HpaP)
XM_017000982.3 → XP_016856471.1 dynamin-3 isoform X7
XM_017000978.2 → XP_016856467.1 dynamin-3 isoform X3
XM_017000985.2 → XP_016856474.1 dynamin-3 isoform X9
XM_047417399.1 → XP_047273355.1 dynamin-3 isoform X14
XM_047417417.1 → XP_047273373.1 dynamin-3 isoform X17

Related

ENSP00000429701.1, ENST00000520906.5
XM_017000991.2 → XP_016856480.1 dynamin-3 isoform X16

UniProtKB/TrEMBL

B3KPF2

Conserved Domains (3) summary

smart00053
Location:6 → 245

DYNc; Dynamin, GTPase

COG0699
Location:79 → 500

CrfC; Replication fork clamp-binding protein CrfC (dynamin-like GTPase family) [Replication, recombination and repair]

pfam01031
Location:217 → 502

Dynamin_M; Dynamin central region
XM_017000989.2 → XP_016856478.1 dynamin-3 isoform X15

UniProtKB/TrEMBL

B3KPF2
XM_017000988.2 → XP_016856477.1 dynamin-3 isoform X12

UniProtKB/TrEMBL

B3KPF2
XM_047417395.1 → XP_047273351.1 dynamin-3 isoform X13
XM_047417409.1 → XP_047273365.1 dynamin-3 isoform X16
XM_017000992.2 → XP_016856481.1 dynamin-3 isoform X18

UniProtKB/TrEMBL

B3KPF2
XM_017000980.2 → XP_016856469.1 dynamin-3 isoform X5
XM_017000986.2 → XP_016856475.1 dynamin-3 isoform X11