GSN gelsolin [Homo sapiens (human)] - Gene

Summary

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Official Symbol: GSNprovided by HGNC
Official Full Name: gelsolinprovided by HGNC
Primary source: HGNC:4620
Locus tag: RP11-477J21.1
See related: Ensembl:ENSG00000148180; HPRD:00674; MIM:137350; Vega:OTTHUMG00000020584
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: ADF; AGEL
Summary: The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 9q33

Sequence :: Chromosome: 9; NC_000009.11 (124030380..124095120)

See GSN in Epigenomics, MapViewer

Chromosome 9 - NC_000009.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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

REVIEW: functions of the plasma and cytoplasmic forms of gelsolin, and their manifold impacts on cancer, apoptosis, infection and inflammation, cardiac injury, pulmonary diseases, and aging
Title: Multifunctional roles of gelsolin in health and diseases.
Gelsolin modulation of cell death involved upregulation of TRAIL-R1 and TRAIL-R2, and involved caspase 3 activation by extrinsic pathway.
Title: N-terminal region of gelsolin induces apoptosis of activated hepatic stellate cells by a caspase-dependent mechanism.
novel functions of gelsolin in colorectal tumor cell invasion through its modulation of the uPA/uPAR cascade
Title: Gelsolin induces colorectal tumor cell invasion via modulation of the urokinase-type plasminogen activator cascade.
Circulating gelsolin level is an important biomarker in preterm infants, developing bronchopulmonary dysplasia.
Title: Plasma gelsolin levels in the diagnosis, prognosis, and treatment of lung complications of prematurity.
analysis of a founder mutation in gelsolin in most of the Japanese families with familial amyloidosis of Finnish type
Title: Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.
Overexpression of lumican affects the migration of human colon cancer cells through up-regulation of gelsolin
Title: Overexpression of lumican affects the migration of human colon cancer cells through up-regulation of gelsolin and filamentous actin reorganization.
The antiviral protein kinase R (PKR) inhibited the key actin-modifying protein gelsolin to regulate actin dynamics.
Title: Regulation of actin dynamics by protein kinase R control of gelsolin enforces basal innate immune defense.
lower expression in inverted papilloma
Title: Down-regulation of gelsolin may play a role in the progression of inverted papilloma through an antiapoptotic mechanism.
adults
Title: Structural characterization and inhibitory profile of formyl peptide receptor 2 selective peptides descending from a PIP2-binding domain of gelsolin.
a combined catalytic and substrate-recognition module is located within the central cavity of the APC/C assembled from Cdh1, Apc10--a core APC/C subunit previously implicated in substrate recognition--and the cullin domain of Apc2
Title: Structures of APC/C(Cdh1) with substrates identify Cdh1 and Apc10 as the D-box co-receptor.

Submit: New GeneRIF Correction See all (85)

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

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Tat, p14	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed
Vpr, p15	vpr	The G5 domain of gelsolin inhibits HIV-Vpr-induced T-cell apoptosis by blocking the interaction between Vpr and VDAC	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_000168.1	NP_057864.1	tax	BIND	PubMed	Tax interacts with Gelsolin.
P06396	P68133	ACTA1	HPRD	PubMed
P06396	P60709	ACTB	HPRD	PubMed
P06396	P63261	ACTG1	HPRD	PubMed
P06396	O43707	ACTN4	HPRD	PubMed
P06396	P05067	APP	HPRD	PubMed
P06396	P10275	AR	HPRD	PubMed
P06396	P56945	BCAR1	HPRD	PubMed
P06396	P42574	CASP3	HPRD	PubMed
P06396	Q9NZA1	CLIC5	HPRD	PubMed
P06396	P41240	CSK	HPRD	PubMed
P06396	P49789	FHIT	HPRD	PubMed
P06396	P02751	FN1	HPRD	PubMed
P06396	P53671	LIMK2	HPRD	PubMed
P06396	P48736	PIK3CG	HPRD	PubMed
P06396	Q14289	PTK2B	HPRD	PubMed
P06396	P49023	PXN	HPRD	PubMed
P06396	Q9UKE5	TNIK	HPRD	PubMed
P06396	O75674	TOM1L1	HPRD	PubMed
P06396	P50552	VASP	HPRD	PubMed
P06396	P18206	VCL	HPRD	PubMed
P06396	P21796	VDAC1	HPRD	PubMed
BioGRID:109189	BioGRID:106573	ACTA1	BioGRID	PubMed	Co-crystal Structure
BioGRID:109189	BioGRID:106596	ACTN4	BioGRID	PubMed	Reconstituted Complex
BioGRID:109189	BioGRID:106715	ALB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:106848	APP	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109189	BioGRID:106862	AR	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:109189	BioGRID:106901	ARRB1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109189	BioGRID:106902	ARRB2	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109189	BioGRID:107287	CASP4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:108403	ESR1	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109189	BioGRID:117646	FBXO25	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:117654	FBXO6	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:108621	FN1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109189	BioGRID:110358	MDM2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:111308	PIK3CA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109189	BioGRID:111351	PLCG1	BioGRID	PubMed	Reconstituted Complex
BioGRID:109189	BioGRID:111490	PPM1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:111683	PSMD4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:111719	PTK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109189	BioGRID:108480	PTK2B	BioGRID	PubMed	Affinity Capture-Western; Biochemical Activity; Two-hybrid
BioGRID:109189	BioGRID:111746	PTPN12	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109189	BioGRID:111787	PXN	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109189	BioGRID:112291	SDHB	BioGRID	PubMed	Co-fractionation
BioGRID:109189	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109189	BioGRID:118159	STK39	BioGRID	PubMed	Two-hybrid
BioGRID:109189	BioGRID:115352	TOM1L1	BioGRID	PubMed	Two-hybrid
BioGRID:109189	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:124986	UBE2Q2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109189	BioGRID:113257	VCL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109189	BioGRID:113259	VDAC1	BioGRID	PubMed	Affinity Capture-Western

Pathways from BioSystems

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Amyloids, organism-specific biosystem (from REACTOME)
Amyloids, organism-specific biosystemAmyloid is a term used to describe typically extracellular deposits of aggregated proteins, sometimes known as plaques. Abnormal accumulation of amyloid is amyloidosis, a term associated with disease...
Apoptosis, organism-specific biosystem (from REACTOME)
Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
Apoptotic execution phase, organism-specific biosystem (from REACTOME)
Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
Caspase cascade in apoptosis, organism-specific biosystem
Caspase cascade in apoptosis
Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystem (from REACTOME)
Caspase-mediated cleavage of cytoskeletal proteins, organism-specific biosystemCaspase-mediated cleavage of a number of proteins in the cortical actin network ( ) microfilament system and others involved in maintenance of the cytoskeletal architecture (vimentin, or Gas2 and ...
Coregulation of Androgen receptor activity, organism-specific biosystem (from Pathway Interaction Database)
Coregulation of Androgen receptor activity, organism-specific biosystem
Coregulation of Androgen receptor activity
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 ...
EGF receptor (ErbB1) signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
EGF receptor (ErbB1) signaling pathway, organism-specific biosystem
EGF receptor (ErbB1) signaling pathway
Fc gamma R-mediated phagocytosis, organism-specific biosystem (from KEGG)
Fc gamma R-mediated phagocytosis, organism-specific biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
Fc gamma R-mediated phagocytosis, conserved biosystem (from KEGG)
Fc gamma R-mediated phagocytosis, conserved biosystemPhagocytosis plays an essential role in host-defense mechanisms through the uptake and destruction of infectious pathogens. Specialized cell types including macrophages, neutrophils, and monocytes ta...
N-cadherin signaling events, organism-specific biosystem (from Pathway Interaction Database)
N-cadherin signaling events, organism-specific biosystem
N-cadherin signaling events
Osteopontin-mediated events, organism-specific biosystem (from Pathway Interaction Database)
Osteopontin-mediated events, organism-specific biosystem
Osteopontin-mediated events
Regulation of Actin Cytoskeleton, organism-specific biosystem (from WikiPathways)
Regulation of Actin Cytoskeleton, organism-specific biosystemhttp://www.genome.jp/kegg/pathway/hsa/hsa04810.html
Regulation of actin cytoskeleton, organism-specific biosystem (from KEGG)
Regulation of actin cytoskeleton, organism-specific biosystem
Regulation of actin cytoskeleton
Regulation of actin cytoskeleton, conserved biosystem (from KEGG)
Regulation of actin cytoskeleton, conserved biosystem
Regulation of actin cytoskeleton
Senescence and Autophagy, organism-specific biosystem (from WikiPathways)
Senescence and Autophagy, organism-specific biosystemSenescense and Autophagy Pathways in Cancer
Viral carcinogenesis, organism-specific biosystem (from KEGG)
Viral carcinogenesis, organism-specific biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...
Viral carcinogenesis, conserved biosystem (from KEGG)
Viral carcinogenesis, conserved biosystemThere is a strong association between viruses and the development of human malignancies. We now know that at least six human viruses, Epstein-Barr virus (EBV), hepatitis B virus (HBV), hepatitis C vi...

General gene information

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Markers

RH66047 (e-PCR)
- UniSTS:25095

GSN (e-PCR)
- UniSTS:253982

SHGC-82301 (e-PCR)
- UniSTS:104242

SHGC-132035 (e-PCR)
- UniSTS:173882

STS-X04412 (e-PCR)
- UniSTS:16463

SHGC-37121 (e-PCR)
- UniSTS:33921

STS-AA029453 (e-PCR)
- UniSTS:34699

GDB:597556 (e-PCR)
- UniSTS:158100

G10520 (e-PCR)
- UniSTS:56986

MARC_23632-23633:1027531903:1 (e-PCR)
- UniSTS:268728

WI-18229 (e-PCR)
- UniSTS:5308

D9S323 (e-PCR)
- UniSTS:69060

D9S1953 (e-PCR)
- UniSTS:63945

D9S1050E (e-PCR)
- UniSTS:29132

RH17399 (e-PCR)
- UniSTS:34031

Genotypes

See GSN SNP Geneview Report
See GSN SNP Genotype Report
See GSN SNP Variation Viewer Report

Homology

Homologs of the GSN gene: The GSN gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, M.oryzae, A.thaliana, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
actin binding	IEA Inferred from Electronic Annotation more info
calcium ion binding	TAS Traceable Author Statement more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
actin filament polymerization	IDA Inferred from Direct Assay more info	PubMed
actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
actin filament severing	IDA Inferred from Direct Assay more info	PubMed
actin filament severing	ISS Inferred from Sequence or Structural Similarity more info
aging	IEA Inferred from Electronic Annotation more info
apoptotic process	TAS Traceable Author Statement more info
barbed-end actin filament capping	TAS Traceable Author Statement more info	PubMed
cellular component disassembly involved in execution phase of apoptosis	TAS Traceable Author Statement more info
cellular response to cadmium ion	IEA Inferred from Electronic Annotation more info
cilium morphogenesis	IMP Inferred from Mutant Phenotype more info
oligodendrocyte development	IEA Inferred from Electronic Annotation more info
phosphatidylinositol-mediated signaling	IEA Inferred from Electronic Annotation more info
regulation of cell adhesion	IEA Inferred from Electronic Annotation more info
response to ethanol	IEA Inferred from Electronic Annotation more info
response to folic acid	IEA Inferred from Electronic Annotation more info
tissue regeneration	IEA Inferred from Electronic Annotation more info
vesicle-mediated transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
actin cytoskeleton	IEA Inferred from Electronic Annotation more info
cytosol	IDA Inferred from Direct Assay more info	PubMed
cytosol	ISS Inferred from Sequence or Structural Similarity more info
cytosol	TAS Traceable Author Statement more info
extracellular region	IDA Inferred from Direct Assay more info	PubMed
extracellular region	ISS Inferred from Sequence or Structural Similarity more info
extracellular region	NAS Non-traceable Author Statement more info	PubMed
extracellular region	TAS Traceable Author Statement more info
extracellular space	IEA Inferred from Electronic Annotation more info
extracellular vesicular exosome	IDA Inferred from Direct Assay more info
lamellipodium	IEA Inferred from Electronic Annotation more info
perinuclear region of cytoplasm	IEA Inferred from Electronic Annotation more info
protein complex	IEA Inferred from Electronic Annotation more info
ruffle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gelsolin

Names: gelsolin; brevin; actin-depolymerizing factor

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.

Genomic

NG_012872.1 RefSeqGene

Range

5001..69741

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000177.4 → NP_000168.1 gelsolin isoform a precursor

Status: REVIEWED

Description

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

Source sequence(s)

BC026033, DB250757

Consensus CDS

CCDS6828.1

UniProtKB/Swiss-Prot

P06396

Related

ENSP00000362924, OTTHUMP00000022011, ENST00000373818, OTTHUMT00000053861

Conserved Domains (6) summary

cd11288
Location:561 – 649
Blast Score: 361

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:186 – 275
Blast Score: 374

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:59 – 171
Blast Score: 538

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:666 – 764
Blast Score: 440

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:295 – 395
Blast Score: 370

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:439 – 539
Blast Score: 449

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001127662.1 → NP_001121134.1 gelsolin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2, 3, 5, and 6 all encode isoform b.

Source sequence(s)

AK096280, BC017491, DA294394, DA450851

Consensus CDS

CCDS6829.1

UniProtKB/Swiss-Prot

P06396

Related

ENSP00000362914, ENST00000373808

Conserved Domains (6) summary

cd11288
Location:510 – 598
Blast Score: 360

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:135 – 224
Blast Score: 373

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:8 – 120
Blast Score: 535

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:615 – 713
Blast Score: 438

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:244 – 344
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:388 – 488
Blast Score: 448

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001127663.1 → NP_001121135.2 gelsolin isoform f

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (f) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AK096280, BC017491, DA294394, DA394782

UniProtKB/Swiss-Prot

P06396

Conserved Domains (6) summary

cd11288
Location:546 – 634
Blast Score: 361

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:171 – 260
Blast Score: 375

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:44 – 156
Blast Score: 537

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:651 – 749
Blast Score: 437

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:280 – 380
Blast Score: 369

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:424 – 524
Blast Score: 449

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001127664.1 → NP_001121136.1 gelsolin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2, 3, 5, and 6 all encode isoform b.

Source sequence(s)

AK096280, BC017491, DA294394, DB170452

Consensus CDS

CCDS6829.1

UniProtKB/Swiss-Prot

P06396

Related

ENSP00000416586, ENST00000412819

Conserved Domains (6) summary

cd11288
Location:510 – 598
Blast Score: 360

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:135 – 224
Blast Score: 373

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:8 – 120
Blast Score: 535

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:615 – 713
Blast Score: 438

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:244 – 344
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:388 – 488
Blast Score: 448

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001127665.1 → NP_001121137.1 gelsolin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2, 3, 5, and 6 all encode isoform b.

Source sequence(s)

AK096280, BC017491, DA294394, DC370937

Consensus CDS

CCDS6829.1

UniProtKB/Swiss-Prot

P06396

Conserved Domains (6) summary

cd11288
Location:510 – 598
Blast Score: 360

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:135 – 224
Blast Score: 373

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:8 – 120
Blast Score: 535

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:615 – 713
Blast Score: 438

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:244 – 344
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:388 – 488
Blast Score: 448

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001127666.1 → NP_001121138.1 gelsolin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (7) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a. Variants 7 and 8 both encode isoform c.

Source sequence(s)

AK096280, BC017491, DA294394, DC341948

Consensus CDS

CCDS48011.1

UniProtKB/Swiss-Prot

P06396

Related

ENSP00000411293, ENST00000436847

Conserved Domains (6) summary

cd11288
Location:521 – 609
Blast Score: 361

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:146 – 235
Blast Score: 373

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:19 – 131
Blast Score: 536

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:626 – 724
Blast Score: 437

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:255 – 355
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:399 – 499
Blast Score: 448

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001127667.1 → NP_001121139.1 gelsolin isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a. Variants 7 and 8 both encode isoform c.

Source sequence(s)

AK096280, BC017491, DA294394, DC316173

Consensus CDS

CCDS48011.1

UniProtKB/Swiss-Prot

P06396

Related

ENSP00000377882, ENST00000394353

Conserved Domains (6) summary

cd11288
Location:521 – 609
Blast Score: 361

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:146 – 235
Blast Score: 373

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:19 – 131
Blast Score: 536

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:626 – 724
Blast Score: 437

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:255 – 355
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:399 – 499
Blast Score: 448

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001258029.1 → NP_001244958.1 gelsolin isoform d

Status: REVIEWED

Description

Transcript Variant: This variant (9) uses an alternate first exon compared to that of variant 1. The resulting isoform (d) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AK295572, AK297870, BC017491, DA823796

UniProtKB/TrEMBL

B7Z4U6

UniProtKB/Swiss-Prot

P06396

Conserved Domains (6) summary

cd11288
Location:527 – 615
Blast Score: 360

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:152 – 241
Blast Score: 374

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:25 – 137
Blast Score: 536

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:632 – 730
Blast Score: 437

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:261 – 361
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:405 – 505
Blast Score: 448

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_001258030.1 → NP_001244959.1 gelsolin isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (10) uses an alternate first exon compared to that of variant 1. The resulting isoform (e) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AK295572, AK299453, BC017491, DC378873

UniProtKB/TrEMBL

B7Z5V1

UniProtKB/TrEMBL

F5H1A8

UniProtKB/Swiss-Prot

P06396

Conserved Domains (6) summary

cd11288
Location:518 – 606
Blast Score: 361

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:143 – 232
Blast Score: 374

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:16 – 128
Blast Score: 537

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:623 – 721
Blast Score: 438

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:252 – 352
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:396 – 496
Blast Score: 449

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.
NM_198252.2 → NP_937895.1 gelsolin isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter N-terminus compared to isoform a. Variants 2, 3, 5, and 6 all encode isoform b.

Source sequence(s)

AK096280, BC017491, DA294394

Consensus CDS

CCDS6829.1

UniProtKB/Swiss-Prot

P06396

Related

ENSP00000340888, ENST00000341272

Conserved Domains (6) summary

cd11288
Location:510 – 598
Blast Score: 360

gelsolin_S5_like; Gelsolin sub-domain 5-like domain found in gelsolin, severin, villin, and related proteins.

cd11289
Location:135 – 224
Blast Score: 373

gelsolin_S2_like; Gelsolin sub-domain 2-like domain found in gelsolin, severin, villin, and related proteins.

cd11290
Location:8 – 120
Blast Score: 535

gelsolin_S1_like; Gelsolin sub-domain 1-like domain found in gelsolin, severin, villin, and related proteins.

cd11291
Location:615 – 713
Blast Score: 438

gelsolin_S6_like; Gelsolin sub-domain 6-like domain found in gelsolin, severin, villin, and related proteins.

cd11292
Location:244 – 344
Blast Score: 368

gelsolin_S3_like; Gelsolin sub-domain 3-like domain found in gelsolin, severin, villin, and related proteins.

cd11293
Location:388 – 488
Blast Score: 448

gelsolin_S4_like; Gelsolin sub-domain 4-like domain found in gelsolin, severin, villin, and related proteins.

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000009.11 Reference GRCh37.p10 Primary Assembly

Range

124030380..124095120

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000141.1 Alternate HuRef

Range

93648171..93712883

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018920.1 Alternate CHM1_1.0

Range

124042686..124107421

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01016233.1 (124744..182007)	None
genomic	ABBA01016234.1	None
genomic	AL049930.1	None
genomic	AL513122.7 (40555..105295)	None
genomic	AMYH01021692.1 (243736..308471)	None
genomic	CH471090.1	EAW87489.1
		EAW87490.1
		EAW87491.1
mRNA	AI742454.1	None
mRNA	AK092797.1	BAG52611.1
mRNA	AK096280.1	BAG53247.1
mRNA	AK125819.1	BAG54252.1
mRNA	AK295201.1	BAH12010.1
mRNA	AK295572.1	BAH12109.1
mRNA	AK297870.1	BAH12682.1
mRNA	AK299453.1	BAH13037.1
mRNA	AK300631.1	BAH13318.1
mRNA	AK304629.1	BAH14228.1
mRNA	AK304675.1	BAH14236.1
mRNA	AK307859.1	None
mRNA	AK315494.1	BAG37878.1
mRNA	AL832070.1	CAH10407.1
mRNA	BC017491.1	AAH17491.1
mRNA	BC026033.1	AAH26033.1
mRNA	BU151663.1	None
mRNA	BX647999.1	None
mRNA	DA294394.1	None
mRNA	DA394782.1	None
mRNA	DA450851.1	None
mRNA	DA823796.1	None
mRNA	DB170452.1	None
mRNA	DB250757.1	None
mRNA	DC316173.1	None
mRNA	DC341948.1	None
mRNA	DC370937.1	None
mRNA	DC378873.1	None
mRNA	X04412.1	CAA28000.1
other-genetic	DQ892187.2	ABM83113.1
other-genetic	EU176693.1	ABW03494.1