DCTN1 dynactin 1 [Homo sapiens] - Gene

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Summary

Official Symbol: DCTN1provided by HGNC
Official Full Name: dynactin 1provided by HGNC
Primary source: HGNC:2711
See related: Ensembl:ENSG00000204843; HPRD:07206; MIM:601143; Vega:OTTHUMG00000129963
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: P135; DP-150; DAP-150
Summary: This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. Dynactin is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, chromosome movement, nuclear positioning, and axonogenesis. This subunit interacts with dynein intermediate chain by its domains directly binding to dynein and binds to microtubules via a highly conserved glycine-rich cytoskeleton-associated protein (CAP-Gly) domain in its N-terminus. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. Mutations in this gene cause distal hereditary motor neuronopathy type VIIB (HMN7B) which is also known as distal spinal and bulbar muscular atrophy (dSBMA). [provided by RefSeq, Oct 2008]

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Genomic context

Location :: 2p13

Sequence :: Chromosome: 2; NC_000002.11 (74588281..74619214, complement)

See DCTN1 in Epigenomics, MapViewer

Chromosome 2 - NC_000002.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

End-binding proteins interact with the CAP-Gly domains of CLIP-170 and p150(glued).
Title: Interaction of mammalian end binding proteins with CAP-Gly domains of CLIP-170 and p150(glued).
Studies indicate that binding of dynactin, LIS1 and NudEL regulate cytoplasmic dynein motor activity.
Title: Multiple modes of cytoplasmic dynein regulation.
Endosome movement requires an intact dynactin complex to allow p150(Glued) to activate dynein, since p50 over-expression, which disrupts the dynactin complex, inhibits inward movement even though dynein and p150(Glued) remain membrane-bound.
Title: Roles of dynein and dynactin in early endosome dynamics revealed using automated tracking and global analysis.
DCTN1 mutation in patients with with early stage of Perry syndrome presented with marked autonomic dysfunction including orthostatic hypotension and decreased cardiac uptake with [123]I-metaiodobenzylguanidine scintigram features
Title: Autonomic failures in Perry syndrome with DCTN1 mutation.
Par6alpha controls centrosome organization through its association with the dynactin subunit p150(Glued).
Title: Par6 alpha interacts with the dynactin subunit p150 Glued and is a critical regulator of centrosomal protein recruitment.
Data show that polo-like kinase 1 phosphorylation of p150(Glued) might be one major pathway of NEBD regulation.
Title: Polo-like kinase 1 phosphorylation of p150Glued facilitates nuclear envelope breakdown during prophase.
study describes a new family carrying a G71R mutation in the DCTN1 gene; the proband displayed a series of distinctive features not previously described in Perry syndrome
Title: Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
demonstrate that the domains harboring mutated CAP-gly domains bind to microtubules but fail to bind to EB1
Title: Disease-associated mutations in the p150(Glued) subunit destabilize the CAP-gly domain.
Disruption of the SNX6-p150(Glued) interaction causes failure in formation and detachment of the tubulovesicular sorting structures from endosomes and results in block of CI-MPR retrieval from endosomes to the TGN.
Title: The retromer component SNX6 interacts with dynactin p150(Glued) and mediates endosome-to-TGN transport.
DCTN1 subunit p150Glued isoforms notable for differential interaction with microtubules.
Title: Dynactin subunit p150Glued isoforms notable for differential interaction with microtubules.

Submit: New GeneRIF Correction See all (35)

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Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Amyotrophic lateral sclerosis, susceptibility to

MIM: 105400

Neuropathy, distal hereditary motor, type VIIB

MIM: 607641

Perry syndrome is characterized by parkinsonism, hypoventilation, depression, and weight loss. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later.

Diagnosis Testing

The diagnosis is based on clinical findings and molecular genetic testing of DCTN1, the only gene known to be associated with Perry syndrome.

Genetic Counseling

Perry syndrome is inherited in an autosomal dominant manner. The proportion of cases attributed to de novo mutations is unknown. Each child of an individual with Perry syndrome has a 50% chance of inheriting the mutation. No laboratories offering molecular genetic testing for prenatal diagnosis are listed in the GeneTests Laboratory Directory; however, prenatal testing may be available through laboratories offering custom prenatal testing for families in which the disease-causing mutation has been identified.

References

PMID: 20945553

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
NP_004073.2	NP_006355.2	SEC23A	BIND	PubMed	Sec23A interacts with p150glued (DCTN1).
NP_004073.2	NP_055637.1	SEC24D	BIND	PubMed	Sec24D interacts with p150glued (DCTN1).
Q14203	P61163	ACTR1A	HPRD	PubMed
Q14203	P42025	ACTR1B	HPRD	PubMed
Q14203	P27695	APEX1	HPRD	PubMed
Q14203	Q96G01	BICD1	HPRD	PubMed
Q14203	Q8TD16	BICD2	HPRD	PubMed
Q14203	P42575	CASP2	HPRD	PubMed
Q14203	P42574	CASP3	HPRD	PubMed
Q14203	P55210	CASP7	HPRD	PubMed
Q14203	P30622	CLIP1	HPRD	PubMed
Q14203	Q14203	DCTN1	HPRD	PubMed
Q14203	O75935	DCTN3	HPRD	PubMed
Q14203	O94833	DST	HPRD	PubMed
Q14203	Q13409	DYNC1I2	HPRD	PubMed
Q14203	P62993	GRB2	HPRD	PubMed
Q14203	P49841	GSK3B	HPRD	PubMed
Q14203	P54257	HAP1	HPRD	PubMed
Q14203	P52732	KIF11	HPRD	PubMed
Q14203	P46734	MAP2K3	HPRD	PubMed
Q14203	P52564	MAP2K6	HPRD	PubMed
Q14203	Q15691	MAPRE1	HPRD	PubMed
Q14203	P43034	PAFAH1B1	HPRD	PubMed
Q14203	P18669	PGAM1	HPRD	PubMed
Q14203	P20340	RAB6A	HPRD	PubMed
Q14203	Q92834	RPGR	HPRD	PubMed
Q14203	Q15436	SEC23A	HPRD	PubMed
Q14203	O15020	SPTBN2	HPRD	PubMed
Q14203	P08670	VIM	HPRD	PubMed
BioGRID:108007	BioGRID:106710	AKT1	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:122157	AKTIP	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:207569	Actr1a	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:107060	BBS4	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108007	BioGRID:115042	BZW1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:116312	CDC37	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:198477	Capza1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:230419	Cep76	BioGRID	PubMed	Affinity Capture-MS
	NP_006391.1	DCTN2	BIND	PubMed	p50dynamitin (DCTN2) interacts with an unspecified isoform of p150glued (DCTN1).
BioGRID:108007	BioGRID:118061	DISC1	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:107135	DST	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:108007	BioGRID:123857	DTNBP1	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:108117	DYNC1H1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108007	BioGRID:108118	DYNC1I1	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:199072	Dctn1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:213590	Dctn2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:207318	Dctn3	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:108349	EPB41	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108007	BioGRID:117625	FBXL5	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:108007	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:108007	BioGRID:131875	GSTK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:108007	BioGRID:114480	HAP1	BioGRID	PubMed	Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid
BioGRID:108007	BioGRID:115078	KIAA0408	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:110030	KIF11	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108007	BioGRID:114699	MED14	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:110826	NEK2	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:111085	PAFAH1B1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108007	BioGRID:111223	PFDN1	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:111362	PLK1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108007	BioGRID:111493	PPP1CA	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:111808	RAB6A	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:108007	BioGRID:114180	RFXANK	BioGRID	PubMed	Affinity Capture-MS
	NP_064535.1	SAR1A	BIND	PubMed	Sar1p (SARA1) interacts with an unspecified isoform of p150glued (DCTN1). This interaction is probably indirect and bridged by Sec23p-Sec24p.
BioGRID:108007	BioGRID:112589	SPTBN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:108007	BioGRID:112649	STAT1	BioGRID	PubMed	Two-hybrid
BioGRID:108007	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:108007	BioGRID:113272	VIM	BioGRID	PubMed	Affinity Capture-Western

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General gene information

Markers

MARC_6321-6322:992007238:1 (e-PCR)
- UniSTS:231230

MARC_6321-6322:997299551:1 (e-PCR)
- UniSTS:231230

RH11966 (e-PCR)
- UniSTS:6470

MARC_15767-15768:1017940424:1 (e-PCR)
- UniSTS:267897

MARC_1819-1820:991931443:3 (e-PCR)
- UniSTS:230869

SHGC-79964 (e-PCR)
- UniSTS:101598

SHGC-4184 (e-PCR)
- UniSTS:64744

IB662 (e-PCR)
- UniSTS:64745

Genotypes

See DCTN1 SNP Geneview Report
See DCTN1 SNP Genotype Report
See DCTN1 SNP Variation Viewer Report

Potential readthrough

Included gene: SLC4A5

Homology

Homologs of the DCTN1 gene: The DCTN1 gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, , and N.crassa.
Map Viewer (Mouse, Rat)

Pathways from BioSystems

Activation of Chaperone Genes by XBP1(S), organism-specific biosystem (from REACTOME)
Activation of Chaperone Genes by XBP1(S), organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
Activation of Chaperones by IRE1alpha, organism-specific biosystem (from REACTOME)
Activation of Chaperones by IRE1alpha, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystem
Cell Cycle
Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
Centrosome maturation, organism-specific biosystem (from REACTOME)
Centrosome maturation, organism-specific biosystemThe centrosome is the primary microtubule organizing center (MTOC) in vertebrate cells and plays an important role in orchestrating the formation of the mitotic spindle. Centrosome maturation is an ...
Diabetes pathways, organism-specific biosystem (from REACTOME)
Diabetes pathways, organism-specific biosystemThis module groups several normal processes that have key roles in the synthesis and function of insulin, insulin-like growth factors and ghrelin, and whose derangement is thus central to the pathoge...
Disease, organism-specific biosystem (from REACTOME)
Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
G2/M Transition, organism-specific biosystem (from REACTOME)
G2/M Transition, organism-specific biosystemCyclin A can also form complexes with Cdc2 (Cdk1). Together with three B-type cyclins, Cdc2 (Cdk1) regulates the transition from G2 into mitosis. These complexes are activated by dephosphorylation of...
Huntington's disease, organism-specific biosystem (from KEGG)
Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
Huntington's disease, conserved biosystem (from KEGG)
Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
Loss of Nlp from mitotic centrosomes, organism-specific biosystem (from REACTOME)
Loss of Nlp from mitotic centrosomes, organism-specific biosystemDuring interphase, Nlp interacts with gamma-tubulin ring complexes (gamma-TuRC), and is thought to contribute to the organization of interphase microtubules (Casenghi et al.,2003). Plk1 is activated...
Loss of proteins required for interphase microtubule organizationÂ from the centrosome, organism-specific biosystem (from REACTOME)
Loss of proteins required for interphase microtubule organizationÂ from the centrosome, organism-specific biosystemIn addition to recruiting proteins and complexes necessary for increased microtubule nucleation, centrosomal maturation involves the loss of proteins involved in interphase microtubule organization ...
Mitotic G2-G2/M phases, organism-specific biosystem (from REACTOME)
Mitotic G2-G2/M phases, organism-specific biosystem
Mitotic G2-G2/M phases
N-cadherin signaling events, organism-specific biosystem (from Pathway Interaction Database)
N-cadherin signaling events, organism-specific biosystem
N-cadherin signaling events
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystem (from REACTOME)
Recruitment of mitotic centrosome proteins and complexes, organism-specific biosystemThe mitotic spindle becomes established once centrosomes have migrated to opposite poles and the nuclear envelope has broken down. During this stage, interphase centrosomes mature into mitotic centro...
Unfolded Protein Response, organism-specific biosystem (from REACTOME)
Unfolded Protein Response, organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
Vasopressin-regulated water reabsorption, organism-specific biosystem (from KEGG)
Vasopressin-regulated water reabsorption, organism-specific biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...
Vasopressin-regulated water reabsorption, conserved biosystem (from KEGG)
Vasopressin-regulated water reabsorption, conserved biosystemIn the kidney, the antidiuretic hormone vasopressin (AVP) is a critical regulator of water homeostasis by controlling the water movement from lumen to the interstitium for water reabsorption and adju...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
motor activity	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
G2/M transition of mitotic cell cycle	TAS Traceable Author Statement more info
activation of signaling protein activity involved in unfolded protein response	TAS Traceable Author Statement more info
cell death	IEA Inferred from Electronic Annotation more info
endoplasmic reticulum unfolded protein response	TAS Traceable Author Statement more info
mitosis	NAS Non-traceable Author Statement more info	PubMed
mitotic cell cycle	TAS Traceable Author Statement more info
nervous system development	NAS Non-traceable Author Statement more info	PubMed
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cell leading edge	IEA Inferred from Electronic Annotation more info
centrosome	IDA Inferred from Direct Assay more info
cytoplasm	IEA Inferred from Electronic Annotation more info
cytoplasmic dynein complex	IEA Inferred from Electronic Annotation more info
cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	TAS Traceable Author Statement more info
kinetochore	IDA Inferred from Direct Assay more info	PubMed
microtubule	IEA Inferred from Electronic Annotation more info
spindle pole	IDA Inferred from Direct Assay more info	PubMed

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General protein information

Preferred Names: dynactin subunit 1

Names: dynactin subunit 1; 150 kDa dynein-associated polypeptide; dynactin 1 (p150, glued homolog, Drosophila)

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NCBI Reference Sequences (RefSeq)

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.

Genomic

NG_008735.2 RefSeqGene

Range

5001..35934

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001135040.2 → NP_001128512.1 dynactin subunit 1 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) has multiple differences in the 5' coding region and 5' UTR, compared to variant 4. These differences cause translation initiation from an upstream AUG and a protein (isoform 3) with a longer N-terminus containing a CAP-Gly domain, compared to isoform 4.

Source sequence(s)

AK314352, BC013978, CA448857, DA315227

Consensus CDS

CCDS46341.1

UniProtKB/TrEMBL

E9PGE1

Related

ENSP00000386843, OTTHUMP00000202448, ENST00000409567, OTTHUMT00000327943

Conserved Domains (5) summary

TIGR02168
Location:285 – 520
Blast Score: 169

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:904 – 1017
Blast Score: 116

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12329
Location:969 – 1017
Blast Score: 84

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

pfam12455
Location:506 – 785
Blast Score: 721

Dynactin; Dynein associated protein

cl08315
Location:29 – 95
Blast Score: 314

CAP_GLY; CAP-Gly domain
NM_001135041.2 → NP_001128513.1 dynactin subunit 1 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) represents the shortest transcript and it encodes the shortest protein (isoform 4).

Source sequence(s)

BC013978, BC071583, CA448857, DA111497

Consensus CDS

CCDS46342.1

UniProtKB/TrEMBL

G5E9H4

UniProtKB/TrEMBL

Q6IQ37

Related

ENSP00000387270, OTTHUMP00000202491, ENST00000409438, OTTHUMT00000328053

Conserved Domains (3) summary

TIGR02168
Location:171 – 406
Blast Score: 164

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:790 – 903
Blast Score: 113

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12455
Location:392 – 671
Blast Score: 705

Dynactin; Dynein associated protein
NM_001190836.1 → NP_001177765.1 dynactin subunit 1 isoform 5

Status: REVIEWED

Description

Transcript Variant: This variant (5) has multiple differences in the 5' end, compared to variant 4. These differences cause translation initiation from an upstream AUG and a protein (isoform 5) with a longer N-terminus, compared to isoform 4.

Source sequence(s)

AK297286, BC013978, CA448857, DC309469

Consensus CDS

CCDS54368.1

UniProtKB/TrEMBL

B4DM45

UniProtKB/TrEMBL

E9PFS5

Related

ENSP00000386406, OTTHUMP00000202531, ENST00000409240, OTTHUMT00000328165

Conserved Domains (5) summary

TIGR02168
Location:268 – 503
Blast Score: 169

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:887 – 1000
Blast Score: 115

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12329
Location:952 – 1000
Blast Score: 83

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

pfam12455
Location:489 – 768
Blast Score: 720

Dynactin; Dynein associated protein

cl08315
Location:12 – 78
Blast Score: 314

CAP_GLY; CAP-Gly domain
NM_001190837.1 → NP_001177766.1 dynactin subunit 1 isoform 6

Status: REVIEWED

Description

Transcript Variant: This variant (6) has multiple differences in the 5' end and in the 3' coding region, compared to variant 4. These differences cause translation initiation from an upstream AUG and a protein (isoform 6) with longer N- and C-termini, compared to isoform 4.

Source sequence(s)

AK314352, BX640799, CA448857, DA315227, X98801

Consensus CDS

CCDS54369.1

UniProtKB/TrEMBL

A8MY36

UniProtKB/Swiss-Prot

Q14203

UniProtKB/TrEMBL

Q6MZZ3

Related

ENSP00000377571, ENST00000394003

Conserved Domains (5) summary

TIGR02168
Location:298 – 533
Blast Score: 169

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:917 – 1030
Blast Score: 116

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12329
Location:982 – 1030
Blast Score: 84

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

pfam12455
Location:519 – 798
Blast Score: 723

Dynactin; Dynein associated protein

cl08315
Location:29 – 95
Blast Score: 312

CAP_GLY; CAP-Gly domain
NM_004082.4 → NP_004073.2 dynactin subunit 1 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) has multiple differences in the 5' UTR, 5' coding region and 3' coding region, compared to variant 4. These differences cause translation initiation from an upstream AUG and a protein (isoform 1) with a longer N-terminus containing a CAP-Gly domain and a longer C-terminus, compared to isoform 4. Isoform 1 is also called p150.

Source sequence(s)

BC013978, BX640799, CA448857, DA315227, X98801

Consensus CDS

CCDS1939.1

UniProtKB/Swiss-Prot

Q14203

UniProtKB/TrEMBL

Q6MZZ3

Related

ENSP00000354791, OTTHUMP00000160423, ENST00000361874, OTTHUMT00000252227

Conserved Domains (5) summary

TIGR02168
Location:305 – 540
Blast Score: 169

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:924 – 1037
Blast Score: 116

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12329
Location:989 – 1037
Blast Score: 84

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

pfam12455
Location:526 – 805
Blast Score: 723

Dynactin; Dynein associated protein

cl08315
Location:29 – 95
Blast Score: 312

CAP_GLY; CAP-Gly domain
NM_023019.3 → NP_075408.1 dynactin subunit 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an additional in-frame exon in the 3' end, compared to variant 4, resulting in a protein (isoform 2) with a longer C-terminus, compared to isoform 4. Isoform 2 is also called p135.

Source sequence(s)

BC013978, BC071583, CA448857, DA111497, X98801

Consensus CDS

CCDS46343.1

UniProtKB/Swiss-Prot

Q14203

UniProtKB/TrEMBL

Q6IQ37

Related

ENSP00000384844, ENST00000407639

Conserved Domains (4) summary

TIGR02168
Location:171 – 406
Blast Score: 164

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

TIGR02169
Location:790 – 903
Blast Score: 113

SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

pfam12329
Location:855 – 903
Blast Score: 81

TMF_DNA_bd; TATA element modulatory factor 1 DNA binding

pfam12455
Location:392 – 671
Blast Score: 708

Dynactin; Dynein associated protein

RNA

NR_033935.1 RNA Sequence

Description

Transcript Variant: This variant (7) contains an alternate 5' exon and an additional segment in the 3' end, compared to variant 4. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the additional 3' segment results in an early start codon which renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

BX647925, BX647972, CA448857, DC309469

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000002.11 Reference GRCh37.p5 Primary Assembly

Range

74588281..74619214, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000134.1 Alternate HuRef

Range

74324594..74355527, complement

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC005041.2 (154462..174144)	None
genomic	AF064203.1	AAD55811.1
genomic	AF064204.1	AAD55812.1
genomic	AF064205.1	AAD55811.1
		AAD55812.1
genomic	AF086947.1	AAD03694.1
genomic	CH471053.2	EAW99684.1
		EAW99685.1
		EAW99686.1
		EAW99687.1
mRNA	AB209625.1	BAD92862.1
mRNA	AJ709213.1	None
mRNA	AK055298.1	None
mRNA	AK297286.1	BAG59757.1
mRNA	AK314352.1	None
mRNA	AK315014.1	None
mRNA	BC006163.1	None
mRNA	BC013978.2	None
mRNA	BC071583.1	AAH71583.1
mRNA	BT006758.1	AAP35404.1
mRNA	BX640799.1	CAE45882.1
mRNA	BX647925.1	CAH10575.1
mRNA	BX647972.1	CAH10572.1
mRNA	CA448857.1	None
mRNA	DA111497.1	None
mRNA	DA315227.1	None
mRNA	DA417935.1	None
mRNA	DC309469.1	None
mRNA	U73799.1	AAB52575.1
mRNA	U90445.1	AAD00701.1
mRNA	X98801.1	CAA67333.1
other-genetic	EU831597.1	ACE87197.1
other-genetic	EU831684.1	ACE86518.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
O95654	GenPept	UniProtKB/TrEMBL:O95654
Q14203.3	GenPept	UniProtKB/Swiss-Prot:Q14203
Q59F36	GenPept	UniProtKB/TrEMBL:Q59F36
Q6AWB1	GenPept	UniProtKB/TrEMBL:Q6AWB1
Q6AWB3	GenPept	UniProtKB/TrEMBL:Q6AWB3
Q6IQ37	GenPept	UniProtKB/TrEMBL:Q6IQ37
Q6LCB2	GenPept	UniProtKB/TrEMBL:Q6LCB2
Q6MZZ3	GenPept	UniProtKB/TrEMBL:Q6MZZ3