PLEC plectin [Homo sapiens] - Gene

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Summary

Official Symbol: PLECprovided by HGNC
Official Full Name: plectinprovided by HGNC
Primary source: HGNC:9069
See related: Ensembl:ENSG00000178209; HPRD:03180; MIM:601282; Vega:OTTHUMG00000165291
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: HD1; PCN; EBS1; EBSO; PLTN; PLEC1; LGMD2Q; PLEC1b
Summary: Plectin is a prominent member of an important family of structurally and in part functionally related proteins, termed plakins or cytolinkers, that are capable of interlinking different elements of the cytoskeleton. Plakins, with their multi-domain structure and enormous size, not only play crucial roles in maintaining cell and tissue integrity and orchestrating dynamic changes in cytoarchitecture and cell shape, but also serve as scaffolding platforms for the assembly, positioning, and regulation of signaling complexes (reviewed in PMID: 9701547, 11854008, and 17499243). Plectin is expressed as several protein isoforms in a wide range of cell types and tissues from a single gene located on chromosome 8 in humans (PMID: 8633055, 8698233). Until 2010, this locus was named plectin 1 (symbol PLEC1 in human; Plec1 in mouse and rat) and the gene product had been referred to as "hemidesmosomal protein 1" or "plectin 1, intermediate filament binding 500kDa". These names were superseded by plectin. The plectin gene locus in mouse on chromosome 15 has been analyzed in detail (PMID: 10556294, 14559777), revealing a genomic exon-intron organization with well over 40 exons spanning over 62 kb and an unusual 5' transcript complexity of plectin isoforms. Eleven exons (1-1j) have been identified that alternatively splice directly into a common exon 2 which is the first exon to encode plectin's highly conserved actin binding domain (ABD). Three additional exons (-1, 0a, and 0) splice into an alternative first coding exon (1c), and two additional exons (2alpha and 3alpha) are optionally spliced within the exons encoding the acting binding domain (exons 2-8). Analysis of the human locus has identified eight of the eleven alternative 5' exons found in mouse and rat (PMID: 14672974); exons 1i, 1j and 1h have not been confirmed in human. Furthermore, isoforms lacking the central rod domain encoded by exon 31 have been detected in mouse (PMID:10556294), rat (PMID: 9177781), and human (PMID: 11441066, 10780662, 20052759). The short alternative amino-terminal sequences encoded by the different first exons direct the targeting of the various isoforms to distinct subcellular locations (PMID: 14559777). As the expression of specific plectin isoforms was found to be dependent on cell type (tissue) and stage of development (PMID: 10556294, 12542521, 17389230) it appears that each cell type (tissue) contains a unique set (proportion and composition) of plectin isoforms, as if custom-made for specific requirements of the particular cells. Concordantly, individual isoforms were found to carry out distinct and specific functions (PMID: 14559777, 12542521, 18541706). In 1996, a number of groups reported that patients suffering from epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) lacked plectin expression in skin and muscle tissues due to defects in the plectin gene (PMID: 8698233, 8941634, 8636409, 8894687, 8696340). Two other subtypes of plectin-related EBS have been described: EBS-pyloric atresia (PA) and EBS-Ogna. For reviews of plectin-related diseases see PMID: 15810881, 19945614. Mutations in the plectin gene related to human diseases should be named based on the position in NM_000445 (variant 1, isoform 1c), unless the mutation is located within one of the other alternative first exons, in which case the position in the respective Reference Sequence should be used. [provided by RefSeq, Aug 2011]

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Genomic context

Location :: 8q24

Sequence :: Chromosome: 8; NC_000008.10 (144989321..145050913, complement)

See PLEC in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 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?

The novel FUS-plectin interaction offers new perspectives for understanding the role of FUS and plectin mutations in the pathogenesis of FUS associated diseases
Title: Fused in sarcoma (FUS) interacts with the cytolinker protein plectin: implications for FUS subcellular localization and function.
novel esophageal squamous cell carcinoma marker plectin 1 was identified by mass spectrometry and immunohistochemical analysis
Title: Quantitative tissue proteomics of esophageal squamous cell carcinoma for novel biomarker discovery.
plectin participates in actin assembly and invasiveness in carcinoma cells in an isoform-specific manner
Title: Plectin regulates invasiveness of SW480 colon carcinoma cells and is targeted to podosome-like adhesions in an isoform-specific manner.
plectin deficiency might play an important role in the transformation of human liver cells
Title: Plectin deficiency on cytoskeletal disorganization and transformation of human liver cells in vitro.
The structure of the plakin domain of plectin reveals a non-canonical SH3 domain interacting with its fourth spectrin repeat.
Title: The structure of the plakin domain of plectin reveals a non-canonical SH3 domain interacting with its fourth spectrin repeat.
degradation of plectin induced by staurosporine-treatment in liver cells resulted in cytoskeleton disruption and induced morphological changes in these cells by affecting the expression and organization of cytokeratin 18.
Title: Cytokeratin 18-mediated disorganization of intermediate filaments is induced by degradation of plectin in human liver cells.
plectin expression was deficient in hepatocellular carcinoma and was probably through post-translational modification
Title: Pleomorphism of cancer cells with the expression of plectin and concept of filament bundles in human hepatocellular carcinoma.
Plectin deficiency can indeed lead to both muscular dystrophy and pyloric atresia in an individual epidermolysis bullosa simplex (EBS) patient.
Title: Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex.
data show that isoform 1f of plectin plays a key role in skeletal muscle function and that disruption of the plectin 1f can cause the LGMD2 phenotype without any dermatologic component as was previously reported with mutations in constant exons of PLEC
Title: Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy.
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex
Title: Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.

Submit: New GeneRIF Correction See all (30)

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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

HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	Variants of HIV-1 Vif have been shown to form perinuclear aggregates and relocalize plectin to these structures	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_958782.1	Actin alpha, cardiac muscle	ACTC1	HPRD	PubMed
NP_958782.1	NP_005219.1	EGFR	HPRD	PubMed
NP_958782.1	Integrin beta 4	ITGB4	HPRD	PubMed
NP_958782.1	Microtubule associated protein 2	MAP2	HPRD	PubMed
NP_958782.1	Moesin	MSN	HPRD	PubMed
NP_958782.1	Spectrin alpha, erythrocytic 1	SPTA1	HPRD	PubMed
NP_958782.1	Spectrin, alpha, non-erythrocytic 1 (alpha-fodrin)	SPTAN1	HPRD	PubMed
NP_958782.1	Vimentin	VIM	HPRD	PubMed
NP_958782.1	G-actin		HPRD	PubMed
NP_958782.1	Lamin B		HPRD	PubMed
NP_958782.1	MAP1		HPRD	PubMed
Q15149	P68032	ACTC1	HPRD	PubMed
Q15149	P63261	ACTG1	HPRD	PubMed
Q15149	Q14790	CASP8	HPRD	PubMed
Q15149	P06493	CDK1	HPRD	PubMed
Q15149	Q9UMD9	COL17A1	HPRD	PubMed
Q15149	P00533	EGFR	HPRD	PubMed
Q15149	P63244	GNB2L1	HPRD	PubMed
Q15149	P23229	ITGA6	HPRD	PubMed
Q15149	P16144	ITGB4	HPRD	PubMed
Q15149	P20700	LMNB1	HPRD	PubMed
Q15149	P11137	MAP2	HPRD	PubMed
Q15149	P26038	MSN	HPRD	PubMed
Q15149	O15198	SMAD9	HPRD	PubMed
Q15149	P02549	SPTA1	HPRD	PubMed
Q15149	Q13813	SPTAN1	HPRD	PubMed
Q15149	P08670	VIM	HPRD	PubMed
BioGRID:111355	BioGRID:108414	ETS1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:111355	BioGRID:109142	GRB2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111355	BioGRID:129001	KCTD13	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111355	BioGRID:110305	MAP2	BioGRID	PubMed	Reconstituted Complex
BioGRID:111355	BioGRID:115252	PAN2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111355	BioGRID:119982	PLEKHA5	BioGRID	PubMed	Two-hybrid
BioGRID:111355	BioGRID:112586	SPTA1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111355	BioGRID:112587	SPTAN1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:111355	BioGRID:117071	SRRM2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111355	BioGRID:113188	SUMO1	BioGRID	PubMed	Reconstituted Complex
BioGRID:111355	BioGRID:112937	TJP1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111355	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111355	BioGRID:116077	USP20	BioGRID	PubMed	Affinity Capture-MS
BioGRID:111355	BioGRID:113272	VIM	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex

Function	Evidence Code	Pubs
actin binding	IEA Inferred from Electronic Annotation more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
structural constituent of muscle	IMP Inferred from Mutant Phenotype more info
structural constituent of muscle	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
apoptotic process	TAS Traceable Author Statement more info
cell junction assembly	TAS Traceable Author Statement more info
cellular component disassembly involved in apoptosis	TAS Traceable Author Statement more info
hemidesmosome assembly	IDA Inferred from Direct Assay more info	PubMed
hemidesmosome assembly	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
cell junction	IEA Inferred from Electronic Annotation more info
contractile fiber	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
focal adhesion	IDA Inferred from Direct Assay more info	PubMed
hemidesmosome	IDA Inferred from Direct Assay more info	PubMed
insoluble fraction	IEA Inferred from Electronic Annotation more info
intermediate filament cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
sarcolemma	IDA Inferred from Direct Assay more info

General protein information

Preferred Names: plectin

Names: plectin; plectin-1; hemidesmosomal protein 1; plectin 1, intermediate filament binding protein 500kDa

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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_012492.1 RefSeqGene

Range

5001..66593

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000445.3 → NP_000436.2 plectin isoform 1c

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains the 5'-most coding exon (exon 1c) and encodes isoform 1c.

Source sequence(s)

AY480044, BP359323

Consensus CDS

CCDS43769.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000388180, OTTHUMP00000229287, ENST00000436759, OTTHUMT00000383284

Conserved Domains (5) summary

cd00014
Location:70 – 172
Blast Score: 239

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 ...

cd00176
Location:645 – 834
Blast Score: 139

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; ...

COG1196
Location:996 – 1261
Blast Score: 97

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:549 – 643
Blast Score: 95

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; ...

cl02531
Location:4067 – 4111
Blast Score: 175

Plectin; Plectin repeat
NM_201378.2 → NP_958780.1 plectin isoform 1f

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1f) contains a distinct N-terminus compared to isoform 1c. Plectin isoform 1f has been found to be concentrated in vinculin-positive structures at actin stress fiber ends (PMID: 14559777).

Source sequence(s)

AY480045, BP321327

Consensus CDS

CCDS43770.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000348702, OTTHUMP00000229286, ENST00000356346, OTTHUMT00000383283

Conserved Domains (5) summary

cd00014
Location:29 – 131
Blast Score: 239

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 ...

cd00176
Location:604 – 793
Blast Score: 139

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; ...

COG1196
Location:955 – 1220
Blast Score: 97

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:508 – 602
Blast Score: 94

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; ...

cl02531
Location:4026 – 4070
Blast Score: 175

Plectin; Plectin repeat
NM_201379.1 → NP_958781.1 plectin isoform 1e

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1e) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AY480046

Consensus CDS

CCDS43771.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000347044, OTTHUMP00000229285, ENST00000354958, OTTHUMT00000383282

Conserved Domains (5) summary

cd00014
Location:21 – 123
Blast Score: 239

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 ...

cd00176
Location:596 – 785
Blast Score: 139

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; ...

COG1196
Location:947 – 1212
Blast Score: 97

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:500 – 594
Blast Score: 95

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; ...

cl02531
Location:4018 – 4062
Blast Score: 175

Plectin; Plectin repeat
NM_201380.2 → NP_958782.1 plectin isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AY480047

Consensus CDS

CCDS43772.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000323856, OTTHUMP00000229284, ENST00000322810, OTTHUMT00000383281

Conserved Domains (6) summary

cd00014
Location:180 – 282
Blast Score: 241

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 ...

cd00176
Location:755 – 944
Blast Score: 142

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; ...

COG1196
Location:1106 – 1371
Blast Score: 99

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02102
Location:7 – 104
Blast Score: 425

S10_plectin; Plectin/S10 domain

cl02488
Location:659 – 753
Blast Score: 96

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; ...

cl02531
Location:4177 – 4221
Blast Score: 175

Plectin; Plectin repeat
NM_201381.1 → NP_958783.1 plectin isoform 1d

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1d) contains a distinct N-terminus compared to isoform 1c. Plectin isoform 1d has been found associated with Z-disks in skeletal muscle (PMID: 17389230).

Source sequence(s)

AY480048

Consensus CDS

CCDS47936.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000381756, OTTHUMP00000229283, ENST00000398774, OTTHUMT00000383280

Conserved Domains (5) summary

cd00014
Location:11 – 113
Blast Score: 239

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 ...

cd00176
Location:586 – 775
Blast Score: 139

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; ...

COG1196
Location:937 – 1202
Blast Score: 97

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:490 – 584
Blast Score: 95

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; ...

cl02531
Location:4008 – 4052
Blast Score: 175

Plectin; Plectin repeat
NM_201382.2 → NP_958784.1 plectin isoform 1b

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1b) contains a distinct N-terminus compared to isoform 1c. Plectin isoform 1b has been found to associate exclusively with mitochondria (PMID: 18541706, 14559777).

Source sequence(s)

AY480049, BP231761

Consensus CDS

CCDS43773.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000346602, OTTHUMP00000229282, ENST00000354589, OTTHUMT00000383279

Conserved Domains (5) summary

cd00014
Location:43 – 145
Blast Score: 239

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 ...

cd00176
Location:618 – 807
Blast Score: 139

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; ...

COG1196
Location:969 – 1234
Blast Score: 97

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:522 – 616
Blast Score: 95

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; ...

cl02531
Location:4040 – 4084
Blast Score: 175

Plectin; Plectin repeat
NM_201383.1 → NP_958785.1 plectin isoform 1g

Status: REVIEWED

Description

Transcript Variant: This variant (10) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1g) contains a distinct N-terminus compared to isoform 1c.

Source sequence(s)

AY480050

Consensus CDS

CCDS43774.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000350277, OTTHUMP00000229627, ENST00000357649, OTTHUMT00000383855

Conserved Domains (5) summary

cd00014
Location:47 – 149
Blast Score: 240

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 ...

cd00176
Location:622 – 811
Blast Score: 140

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; ...

COG1196
Location:973 – 1238
Blast Score: 98

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:526 – 620
Blast Score: 95

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; ...

cl02531
Location:4044 – 4088
Blast Score: 175

Plectin; Plectin repeat
NM_201384.1 → NP_958786.1 plectin isoform 1a

Status: REVIEWED

Description

Transcript Variant: This variant (11) differs in the 5' UTR and the 5' coding region compared to variant 1. The resulting protein (isoform 1a) contains a distinct N-terminus compared to isoform 1c. Plectin isoform 1a has been found to associate specifically with hemidesmosome-like structures in keratinocytes (PMID: 12542521).

Source sequence(s)

AY480051

Consensus CDS

CCDS43775.1

UniProtKB/Swiss-Prot

Q15149

Related

ENSP00000344848, OTTHUMP00000229626, ENST00000345136, OTTHUMT00000383854

Conserved Domains (5) summary

cd00014
Location:43 – 145
Blast Score: 239

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 ...

cd00176
Location:618 – 807
Blast Score: 139

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; ...

COG1196
Location:969 – 1234
Blast Score: 97

Smc; Chromosome segregation ATPases [Cell division and chromosome partitioning]

cl02488
Location:522 – 616
Blast Score: 95

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; ...

cl02531
Location:4040 – 4084
Blast Score: 175

Plectin; Plectin repeat

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_000008.10 Reference GRCh37.p5 Primary Assembly

Range

144989321..145050913, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh37.p5 PATCHES

Genomic

NW_003315923.1 Reference GRCh37.p5 PATCHES

Range

253798..315390, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000140.1 Alternate HuRef

Range

140243473..140304261, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC109322.16 (96520..156742)	None
genomic	CH471162.2	EAW82170.1
		EAW82171.1
		EAW82172.1
		EAW82173.1
		EAW82174.1
genomic	CS673496.1	CAP07515.1
genomic	CS690879.1	CAP11483.1
genomic	FB665632.1	CAR97097.1
genomic	GM706844.1	CAT82346.1
genomic	U63610.1	AAB05428.1
genomic	Z54367.1	CAA91196.1
mRNA	AF330792.1	AAL37483.1
mRNA	AY480044.1	AAR95677.1
mRNA	AY480045.1	AAR95678.1
mRNA	AY480046.1	AAR95679.1
mRNA	AY480047.1	AAR95680.1
mRNA	AY480048.1	AAR95681.1
mRNA	AY480049.1	AAR95682.1
mRNA	AY480050.1	AAR95683.1
mRNA	AY480051.1	AAR95684.1
mRNA	BC007597.1	AAH07597.1
mRNA	BC013206.1	None
mRNA	BP231761.1	None
mRNA	BP321327.1	None
mRNA	BP359323.1	None
mRNA	U53204.1	AAB05427.1
mRNA	X97053.1	CAA65765.1
mRNA	Z36817.1	None

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
Q15149.3	GenPept	UniProtKB/Swiss-Prot:Q15149
Q8WXV5	GenPept	UniProtKB/TrEMBL:Q8WXV5
Q96IE3	GenPept	UniProtKB/TrEMBL:Q96IE3