Dst dystonin [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Dstprovided by RGD
Official Full Name: dystoninprovided by RGD
Primary source: RGD:1306566
See related: EnsemblRapid:ENSRNOG00000012207 AllianceGenome:RGD:1306566
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including integrin binding activity; microtubule plus-end binding activity; and protein homodimerization activity. Predicted to be involved in several processes, including cytoskeleton organization; hemidesmosome assembly; and maintenance of cell polarity. Predicted to act upstream of or within axonogenesis and retrograde axonal transport. Predicted to be located in several cellular components, including cytoskeleton; endoplasmic reticulum; and nucleus. Predicted to be active in several cellular components, including focal adhesion; hemidesmosome; and type III intermediate filament. Predicted to colocalize with intermediate filament. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and hereditary sensory and autonomic neuropathy type 6. Orthologous to human DST (dystonin). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Heart (RPKM 594.9), Muscle (RPKM 452.3) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 9q21

Exon count:: 110

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	9	NC_086027.1 (43631716..44025535)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	9	NC_051344.1 (36135657..36529617)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	9	NC_005108.4 (37902336..38296961, complement)

Chromosome 9 - NC_086027.1 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9Rat191 (e-PCR), detects polymorphism
- UniSTS:228368

BF405229 (e-PCR)
- UniSTS:247835

STS-Z40753 (e-PCR)
- UniSTS:77620

AI175602 (e-PCR)
- UniSTS:260713

fc48d10.y1 (e-PCR)
- UniSTS:193985

RH143165 (e-PCR)
- UniSTS:232412

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables actin binding	IEA Inferred from Electronic Annotation more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables integrin binding	ISO Inferred from Sequence Orthology more info
enables microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables microtubule plus-end binding	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables structural molecule activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axonogenesis	ISO Inferred from Sequence Orthology more info
involved_in cell motility	ISO Inferred from Sequence Orthology more info
involved_in cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in hemidesmosome assembly	ISO Inferred from Sequence Orthology more info
involved_in intermediate filament cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intermediate filament cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in intracellular transport	ISO Inferred from Sequence Orthology more info
involved_in maintenance of cell polarity	ISO Inferred from Sequence Orthology more info
involved_in microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in response to wounding	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retrograde axonal transport	ISO Inferred from Sequence Orthology more info
involved_in retrograde axonal transport	ISO Inferred from Sequence Orthology more info
involved_in wound healing	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in H zone	ISO Inferred from Sequence Orthology more info
is_active_in Z disc	ISO Inferred from Sequence Orthology more info
located_in Z disc	ISO Inferred from Sequence Orthology more info
NOT located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in axon	ISO Inferred from Sequence Orthology more info
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cell leading edge	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic side of plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in desmosome	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
is_active_in focal adhesion	IBA Inferred from Biological aspect of Ancestor more info
located_in focal adhesion	ISO Inferred from Sequence Orthology more info
is_active_in hemidesmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in hemidesmosome	ISO Inferred from Sequence Orthology more info
located_in intercalated disc	ISO Inferred from Sequence Orthology more info
colocalizes_with intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
is_active_in intermediate filament	ISO Inferred from Sequence Orthology more info
located_in intermediate filament cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in membrane	ISO Inferred from Sequence Orthology more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in microtubule plus-end	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in postsynaptic density	ISO Inferred from Sequence Orthology more info
located_in sarcolemma	ISO Inferred from Sequence Orthology more info
located_in stress fiber	ISO Inferred from Sequence Orthology more info
is_active_in type III intermediate filament	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: dystonin

Names: bullous pemphigoid antigen 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_001108208.2 → NP_001101678.2 dystonin

Status: VALIDATED

Source sequence(s)

CB325745, JAXUCZ010000009

UniProtKB/TrEMBL

A0A8I5ZUE5

Conserved Domains (10) summary

smart00150
Location:608 → 699

SPEC; Spectrin repeats

COG0419
Location:2657 → 3246

SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]

COG1196
Location:1037 → 1825

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

COG5069
Location:35 → 254

SAC6; Ca2+-binding actin-bundling protein fimbrin/plastin (EF-Hand superfamily) [Cytoskeleton]

cd00051
Location:5012 → 5074

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:4190 → 4405

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:1481 → 2340

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam02187
Location:5089 → 5163

GAS2; Growth-Arrest-Specific Protein 2 Domain

pfam17902
Location:876 → 942

SH3_10; SH3 domain

pfam18373
Location:977 → 1054

Spectrin_like; Spectrin like domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086027.1 Reference GRCr8

Range

43631716..44025535

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017596770.3 → XP_017452259.1 dystonin isoform X1

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_017596775.3 → XP_017452264.1 dystonin isoform X7

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_017596773.3 → XP_017452262.1 dystonin isoform X4

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_017596776.3 → XP_017452265.1 dystonin isoform X9

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_017596771.3 → XP_017452260.1 dystonin isoform X2

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_063267132.1 → XP_063123202.1 dystonin isoform X8

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_017596774.3 → XP_017452263.1 dystonin isoform X5

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_063267134.1 → XP_063123204.1 dystonin isoform X10

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_017596777.3 → XP_017452266.1 dystonin isoform X12

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_017596780.3 → XP_017452269.1 dystonin isoform X14

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_039083554.2 → XP_038939482.1 dystonin isoform X19

UniProtKB/TrEMBL

A0A8I5ZUE5

Conserved Domains (11) summary

smart00150
Location:819 → 910

SPEC; Spectrin repeats

PHA03307
Location:5546 → 5739

PHA03307; transcriptional regulator ICP4; Provisional

COG1196
Location:1248 → 2036

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00051
Location:5332 → 5394

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:4510 → 4725

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:1692 → 2551

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam02187
Location:5409 → 5483

GAS2; Growth-Arrest-Specific Protein 2 Domain

pfam17902
Location:1087 → 1153

SH3_10; SH3 domain

pfam18373
Location:1188 → 1265

Spectrin_like; Spectrin like domain

cd21239
Location:363 → 466

CH_DYST_rpt2; second calponin homology (CH) domain found in dystonin and similar proteins

cl00030
Location:201 → 358

CH_SF; calponin homology (CH) domain superfamily
XM_039083555.2 → XP_038939483.1 dystonin isoform X20

UniProtKB/TrEMBL

A0A8I5ZUE5

Conserved Domains (11) summary

smart00243
Location:5407 → 5485

GAS2; Growth-Arrest-Specific Protein 2 Domain

smart00150
Location:819 → 910

SPEC; Spectrin repeats

PHA03307
Location:5522 → 5715

PHA03307; transcriptional regulator ICP4; Provisional

COG1196
Location:1248 → 2036

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00051
Location:5332 → 5394

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:4510 → 4725

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:1692 → 2551

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam17902
Location:1087 → 1153

SH3_10; SH3 domain

pfam18373
Location:1188 → 1265

Spectrin_like; Spectrin like domain

cd21239
Location:363 → 466

CH_DYST_rpt2; second calponin homology (CH) domain found in dystonin and similar proteins

cl00030
Location:201 → 358

CH_SF; calponin homology (CH) domain superfamily
XM_017596784.3 → XP_017452273.1 dystonin isoform X24

UniProtKB/TrEMBL

A0A8I5ZUE5
XM_017596772.3 → XP_017452261.1 dystonin isoform X3

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_006244713.5 → XP_006244775.1 dystonin isoform X6

See identical proteins and their annotated locations for XP_006244775.1

UniProtKB/TrEMBL

A0A8I5ZQD4

Related

ENSRNOP00000080301.1, ENSRNOT00000096417.2

Conserved Domains (9) summary

pfam05483
Location:4414 → 5049

SCP-1; Synaptonemal complex protein 1 (SCP-1)

smart00150
Location:786 → 877

SPEC; Spectrin repeats

cd00014
Location:214 → 316

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00051
Location:7295 → 7357

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:6473 → 6688

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00681
Location:1953 → 1993

Plectin; Plectin repeat

pfam02187
Location:7373 → 7446

GAS2; Growth-Arrest-Specific Protein 2 Domain

pfam13499
Location:7296 → 7356

EF-hand_7; EF-hand domain pair

cl02488
Location:1372 → 1536

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017596785.3 → XP_017452274.1 dystonin isoform X31

UniProtKB/TrEMBL

A0A8I5ZQD4

Related

ENSRNOP00000103674.1, ENSRNOT00000148443.1
XM_017596786.3 → XP_017452275.1 dystonin isoform X32

UniProtKB/TrEMBL

A0A8I5ZQD4
XM_063267138.1 → XP_063123208.1 dystonin isoform X21

UniProtKB/TrEMBL

A0A8I5ZUE5
XM_008766967.4 → XP_008765189.1 dystonin isoform X22

See identical proteins and their annotated locations for XP_008765189.1

UniProtKB/TrEMBL

A0A8I5ZUE5

Conserved Domains (8) summary

smart00150
Location:786 → 877

SPEC; Spectrin repeats

COG1196
Location:1215 → 2003

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00014
Location:214 → 316

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00051
Location:5299 → 5361

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:4477 → 4692

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam02187
Location:5377 → 5450

GAS2; Growth-Arrest-Specific Protein 2 Domain

pfam13499
Location:5300 → 5360

EF-hand_7; EF-hand domain pair

cl02488
Location:2261 → 2468

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017596779.3 → XP_017452268.1 dystonin isoform X13

UniProtKB/TrEMBL

D3ZC56
XM_063267135.1 → XP_063123205.1 dystonin isoform X15

UniProtKB/TrEMBL

D3ZC56

Related

ENSRNOP00000082905.2, ENSRNOT00000101194.2
XM_063267140.1 → XP_063123210.1 dystonin isoform X25

UniProtKB/TrEMBL

A0A8I5ZUE5
XM_006244714.4 → XP_006244776.1 dystonin isoform X28

UniProtKB/TrEMBL

A0A8I6AN06

Related

ENSRNOP00000094042.1, ENSRNOT00000102656.2

Conserved Domains (9) summary

pfam05483
Location:4236 → 4871

SCP-1; Synaptonemal complex protein 1 (SCP-1)

smart00150
Location:608 → 699

SPEC; Spectrin repeats

cd00014
Location:36 → 138

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00051
Location:7008 → 7070

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:6186 → 6401

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00681
Location:1775 → 1815

Plectin; Plectin repeat

pfam02187
Location:7086 → 7159

GAS2; Growth-Arrest-Specific Protein 2 Domain

pfam13499
Location:7009 → 7069

EF-hand_7; EF-hand domain pair

cl02488
Location:4079 → 4286

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_017596781.3 → XP_017452270.1 dystonin isoform X16

UniProtKB/TrEMBL

D3ZC56
XM_039083558.2 → XP_038939486.1 dystonin isoform X29

UniProtKB/TrEMBL

D3ZC56

Conserved Domains (12) summary

smart00243
Location:7192 → 7267

GAS2; Growth-Arrest-Specific Protein 2 Domain

smart00150
Location:608 → 699

SPEC; Spectrin repeats

COG1196
Location:1037 → 1350

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00051
Location:7117 → 7179

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:6295 → 6510

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:3532 → 4336

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam00681
Location:1775 → 1814

Plectin; Plectin repeat

pfam17902
Location:876 → 942

SH3_10; SH3 domain

pfam18373
Location:977 → 1054

Spectrin_like; Spectrin like domain

cd21236
Location:20 → 147

CH_DYST_rpt1; first calponin homology (CH) domain found in dystonin and similar proteins

cd21239
Location:152 → 255

CH_DYST_rpt2; second calponin homology (CH) domain found in dystonin and similar proteins

cl02488
Location:5015 → 5191

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_063267136.1 → XP_063123206.1 dystonin isoform X17

UniProtKB/TrEMBL

D3ZC56

Related

ENSRNOP00000043470.6, ENSRNOT00000044452.8
XM_017596783.3 → XP_017452272.1 dystonin isoform X18

UniProtKB/TrEMBL

D3ZC56
XM_008766968.4 → XP_008765190.1 dystonin isoform X26

See identical proteins and their annotated locations for XP_008765190.1

UniProtKB/TrEMBL

A0A8I5ZUE5

Conserved Domains (8) summary

smart00150
Location:608 → 699

SPEC; Spectrin repeats

COG1196
Location:1037 → 1825

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00014
Location:36 → 138

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00051
Location:5121 → 5183

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:4299 → 4514

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam02187
Location:5199 → 5272

GAS2; Growth-Arrest-Specific Protein 2 Domain

pfam13499
Location:5122 → 5182

EF-hand_7; EF-hand domain pair

cl02488
Location:2083 → 2290

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_039083556.2 → XP_038939484.1 dystonin isoform X27

UniProtKB/TrEMBL

A0A8I5ZUE5

Conserved Domains (11) summary

smart00243
Location:5196 → 5268

GAS2; Growth-Arrest-Specific Protein 2 Domain

smart00150
Location:608 → 699

SPEC; Spectrin repeats

PHA03307
Location:5305 → 5498

PHA03307; transcriptional regulator ICP4; Provisional

COG1196
Location:1037 → 1825

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

cd00051
Location:5121 → 5183

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:4299 → 4514

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

TIGR02168
Location:1481 → 2340

SMC_prok_B; chromosome segregation protein SMC, common bacterial type

pfam17902
Location:876 → 942

SH3_10; SH3 domain

pfam18373
Location:977 → 1054

Spectrin_like; Spectrin like domain

cd21236
Location:20 → 147

CH_DYST_rpt1; first calponin homology (CH) domain found in dystonin and similar proteins

cd21239
Location:152 → 255

CH_DYST_rpt2; second calponin homology (CH) domain found in dystonin and similar proteins
XM_006244701.5 → XP_006244763.1 dystonin isoform X11

See identical proteins and their annotated locations for XP_006244763.1

UniProtKB/TrEMBL

A0A8I5ZUJ3

Related

ENSRNOP00000099977.1, ENSRNOT00000163385.1

Conserved Domains (9) summary

pfam05483
Location:4351 → 4986

SCP-1; Synaptonemal complex protein 1 (SCP-1)

smart00150
Location:723 → 814

SPEC; Spectrin repeats

cd00014
Location:267 → 370

CH; Calponin homology domain; actin-binding domain which may be present as a single copy or in tandem repeats (which increases binding affinity). The CH domain is found in cytoskeletal and signal transduction proteins, including actin-binding proteins like ...

cd00051
Location:7232 → 7294

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

cd00176
Location:6410 → 6625

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00681
Location:1890 → 1930

Plectin; Plectin repeat

pfam02187
Location:7310 → 7383

GAS2; Growth-Arrest-Specific Protein 2 Domain

pfam13499
Location:7233 → 7293

EF-hand_7; EF-hand domain pair

cl02488
Location:1309 → 1473

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_063267139.1 → XP_063123209.1 dystonin isoform X23

UniProtKB/TrEMBL

A0A8I6ABJ6

Related

ENSRNOP00000091179.1, ENSRNOT00000095842.2
XM_006244716.5 → XP_006244778.1 dystonin isoform X33

See identical proteins and their annotated locations for XP_006244778.1

UniProtKB/TrEMBL

A0A8I6B4H4

Related

ENSRNOP00000096628.1, ENSRNOT00000103786.2

Conserved Domains (7) summary

pfam05483
Location:829 → 1573

SCP-1; Synaptonemal complex protein 1 (SCP-1)

smart00150
Location:282 → 373

SPEC; Spectrin repeats

smart00250
Location:2499 → 2536

PLEC; Plectin repeat

COG1340
Location:1539 → 1818

COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]

cd00176
Location:375 → 564

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

pfam00681
Location:2462 → 2501

Plectin; Plectin repeat

cl02488
Location:868 → 1032

SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
XM_063267142.1 → XP_063123212.1 dystonin isoform X30

UniProtKB/TrEMBL

A0A8I5ZUE5