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UniProtKB - P06396 (GELS_HUMAN)

Protein

Gelsolin

Gene

GSN

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed. Plays a role in ciliogenesis.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi471Calcium 1; via carbonyl oxygen1
Metal bindingi472Calcium 11
Metal bindingi502Calcium 11
Metal bindingi551Calcium 1; via carbonyl oxygen1
Metal bindingi591Calcium 21
Metal bindingi591Calcium 2; via carbonyl oxygen1
Metal bindingi592Calcium 21
Metal bindingi614Calcium 21
Metal bindingi696Calcium 3; via carbonyl oxygen1
Metal bindingi697Calcium 31
Metal bindingi719Calcium 31

GO - Molecular functioni

  • actin binding Source: UniProtKB
  • actin filament binding Source: InterPro
  • calcium ion binding Source: UniProtKB
  • myosin II binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionActin capping, Actin-binding
Biological processCilium biogenesis/degradation
LigandCalcium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-977225 Amyloid fiber formation
SABIO-RKiP06396
SIGNORiP06396

Names & Taxonomyi

Protein namesi
Recommended name:
Gelsolin
Alternative name(s):
AGEL
Actin-depolymerizing factor
Short name:
ADF
Brevin
Gene namesi
Name:GSN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000148180.17
HGNCiHGNC:4620 GSN
MIMi137350 gene
neXtProtiNX_P06396

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Amyloid, Cytoplasm, Cytoskeleton, Secreted

Pathology & Biotechi

Involvement in diseasei

Amyloidosis 5 (AMYL5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA hereditary generalized amyloidosis due to gelsolin amyloid deposition. It is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure.
See also OMIM:105120
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007718214D → N in AMYL5. 2 PublicationsCorresponds to variant dbSNP:rs121909715EnsemblClinVar.1
Natural variantiVAR_007719214D → Y in AMYL5. 1 PublicationCorresponds to variant dbSNP:rs121909715EnsemblClinVar.1

Keywords - Diseasei

Amyloidosis, Corneal dystrophy, Disease mutation

Organism-specific databases

DisGeNETi2934
MalaCardsiGSN
MIMi105120 phenotype
OpenTargetsiENSG00000148180
Orphaneti85448 Familial amyloidosis, Finnish type
PharmGKBiPA29011

Chemistry databases

DrugBankiDB02621 Latrunculin A

Polymorphism and mutation databases

BioMutaiGSN
DMDMi121116

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Add BLAST27
ChainiPRO_000003638528 – 782GelsolinAdd BLAST755

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei86Phosphotyrosine; by SRC; in vitro1 Publication1
Disulfide bondi215 ↔ 228In isoform 12 Publications
Modified residuei409Phosphotyrosine; by SRC; in vitro1 Publication1
Modified residuei465Phosphotyrosine; by SRC1 Publication1
Modified residuei584N6-acetyllysineBy similarity1
Modified residuei603Phosphotyrosine; by SRC; in vitro1 Publication1
Modified residuei651Phosphotyrosine; by SRC; in vitro1 Publication1
Modified residuei742PhosphothreonineCombined sources1

Post-translational modificationi

Phosphorylation on Tyr-86, Tyr-409, Tyr-465, Tyr-603 and Tyr-651 in vitro is induced in presence of phospholipids.1 Publication

Keywords - PTMi

Acetylation, Disulfide bond, Phosphoprotein

Proteomic databases

EPDiP06396
PaxDbiP06396
PeptideAtlasiP06396
PRIDEiP06396
ProteomicsDBi12635 [P06396-3]
51897
51898 [P06396-2]
51899 [P06396-3]

2D gel databases

OGPiP06396

PTM databases

iPTMnetiP06396
PhosphoSitePlusiP06396
SwissPalmiP06396

Miscellaneous databases

PMAP-CutDBiP06396

Expressioni

Tissue specificityi

Phagocytic cells, platelets, fibroblasts, nonmuscle cells, smooth and skeletal muscle cells.

Gene expression databases

BgeeiENSG00000148180 Expressed in 243 organ(s), highest expression level in adipose tissue of abdominal region
CleanExiHS_GSN
ExpressionAtlasiP06396 baseline and differential
GenevisibleiP06396 HS

Organism-specific databases

HPAiCAB010823
CAB016728
CAB036009
HPA054026

Interactioni

Subunit structurei

Binds to actin and to fibronectin. Identified in a complex composed of ACTA1, COBL, GSN AND TMSB4X. Interacts with the inactive form of EIF2AK2/PKR (By similarity).By similarity

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi109189, 100 interactors
CORUMiP06396
DIPiDIP-2196N
IntActiP06396, 57 interactors
MINTiP06396
STRINGi9606.ENSP00000362924

Structurei

Secondary structure

1782
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP06396
SMRiP06396
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP06396

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati76 – 126Gelsolin-like 1Add BLAST51
Repeati198 – 238Gelsolin-like 2Add BLAST41
Repeati314 – 356Gelsolin-like 3Add BLAST43
Repeati453 – 504Gelsolin-like 4Add BLAST52
Repeati576 – 616Gelsolin-like 5Add BLAST41
Repeati679 – 721Gelsolin-like 6Add BLAST43

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni53 – 176Actin-severingSequence analysisAdd BLAST124
Regioni123 – 126Actin-actin interfilament contact point4
Regioni162 – 169Polyphosphoinositide bindingBy similarity8
Regioni188 – 196Polyphosphoinositide bindingBy similarity9
Regioni434 – 782Actin-binding, Ca-sensitiveSequence analysisAdd BLAST349

Sequence similaritiesi

Belongs to the villin/gelsolin family.Curated

Keywords - Domaini

Repeat, Signal

Phylogenomic databases

eggNOGiKOG0443 Eukaryota
ENOG410XR0A LUCA
GeneTreeiENSGT00760000119111
HOGENOMiHOG000233630
HOVERGENiHBG004183
InParanoidiP06396
KOiK05768
OMAiEWPQTPD
OrthoDBiEOG091G05SC
PhylomeDBiP06396
TreeFamiTF313468

Family and domain databases

Gene3Di3.40.20.10, 6 hits
InterProiView protein in InterPro
IPR029006 ADF-H/Gelsolin-like_dom_sf
IPR030004 Gelsolin
IPR007123 Gelsolin-like_dom
IPR007122 Villin/Gelsolin
PANTHERiPTHR11977 PTHR11977, 1 hit
PTHR11977:SF29 PTHR11977:SF29, 1 hit
PfamiView protein in Pfam
PF00626 Gelsolin, 6 hits
PRINTSiPR00597 GELSOLIN
SMARTiView protein in SMART
SM00262 GEL, 6 hits

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing and alternative initiation. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P06396-1) [UniParc]FASTAAdd to basket
Also known as: Secreted, Plasma

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAPHRPAPAL LCALSLALCA LSLPVRAATA SRGASQAGAP QGRVPEARPN 
        60         70         80         90        100
SMVVEHPEFL KAGKEPGLQI WRVEKFDLVP VPTNLYGDFF TGDAYVILKT 
       110        120        130        140        150
VQLRNGNLQY DLHYWLGNEC SQDESGAAAI FTVQLDDYLN GRAVQHREVQ 
       160        170        180        190        200
GFESATFLGY FKSGLKYKKG GVASGFKHVV PNEVVVQRLF QVKGRRVVRA 
       210        220        230        240        250
TEVPVSWESF NNGDCFILDL GNNIHQWCGS NSNRYERLKA TQVSKGIRDN 
       260        270        280        290        300
ERSGRARVHV SEEGTEPEAM LQVLGPKPAL PAGTEDTAKE DAANRKLAKL 
       310        320        330        340        350
YKVSNGAGTM SVSLVADENP FAQGALKSED CFILDHGKDG KIFVWKGKQA 
       360        370        380        390        400
NTEERKAALK TASDFITKMD YPKQTQVSVL PEGGETPLFK QFFKNWRDPD 
       410        420        430        440        450
QTDGLGLSYL SSHIANVERV PFDAATLHTS TAMAAQHGMD DDGTGQKQIW 
       460        470        480        490        500
RIEGSNKVPV DPATYGQFYG GDSYIILYNY RHGGRQGQII YNWQGAQSTQ 
       510        520        530        540        550
DEVAASAILT AQLDEELGGT PVQSRVVQGK EPAHLMSLFG GKPMIIYKGG 
       560        570        580        590        600
TSREGGQTAP ASTRLFQVRA NSAGATRAVE VLPKAGALNS NDAFVLKTPS 
       610        620        630        640        650
AAYLWVGTGA SEAEKTGAQE LLRVLRAQPV QVAEGSEPDG FWEALGGKAA 
       660        670        680        690        700
YRTSPRLKDK KMDAHPPRLF ACSNKIGRFV IEEVPGELMQ EDLATDDVML 
       710        720        730        740        750
LDTWDQVFVW VGKDSQEEEK TEALTSAKRY IETDPANRDR RTPITVVKQG 
       760        770        780 
FEPPSFVGWF LGWDDDYWSV DPLDRAMAEL AA
Length:782
Mass (Da):85,698
Last modified:January 1, 1988 - v1
Checksum:i8CEBC52257A160F7
GO
Isoform 2 (identifier: P06396-2) [UniParc]FASTAAdd to basket
Also known as: Cytoplasmic

The sequence of this isoform differs from the canonical sequence as follows:
     1-51: Missing.

Show »
Length:731
Mass (Da):80,641
Checksum:i0C5C30CE497A0684
GO
Isoform 3 (identifier: P06396-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: MAPHRPAPALLCALSLALCALSLPVRAATASRGASQAGAPQGRVPEAR → MEKLFCCF

Show »
Length:742
Mass (Da):81,941
Checksum:iCA633F2D7DFF84DA
GO
Isoform 4 (identifier: P06396-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: MAPHRPAPALLCALSLALCALSLPVRAATASRGASQAGAPQGRVPEAR → MPLCT

Note: No experimental confirmation available.
Show »
Length:739
Mass (Da):81,485
Checksum:i61A735296139EB27
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0A0MS51A0A0A0MS51_HUMAN
Gelsolin
GSN
748Annotation score:
A0A0A0MT01A0A0A0MT01_HUMAN
Gelsolin
GSN
767Annotation score:
Q5T0I0Q5T0I0_HUMAN
Gelsolin
GSN
260Annotation score:
Q5T0H8Q5T0H8_HUMAN
Gelsolin
GSN
67Annotation score:
A0A0U1RQL8A0A0U1RQL8_HUMAN
Gelsolin
GSN
232Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti294N → D in BAH13037 (PubMed:14702039).Curated1
Sequence conflicti419R → W in BAH13037 (PubMed:14702039).Curated1
Sequence conflicti603Y → H in BAH13037 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03633722S → L in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_024690129A → T. Corresponds to variant dbSNP:rs2230287EnsemblClinVar.1
Natural variantiVAR_036338201T → I in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_007718214D → N in AMYL5. 2 PublicationsCorresponds to variant dbSNP:rs121909715EnsemblClinVar.1
Natural variantiVAR_007719214D → Y in AMYL5. 1 PublicationCorresponds to variant dbSNP:rs121909715EnsemblClinVar.1
Natural variantiVAR_061982231N → D. Corresponds to variant dbSNP:rs11550199Ensembl.1
Natural variantiVAR_036339611S → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_033958668R → L. Corresponds to variant dbSNP:rs9696578Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0189591 – 51Missing in isoform 2. 2 PublicationsAdd BLAST51
Alternative sequenceiVSP_0428791 – 48MAPHR…VPEAR → MEKLFCCF in isoform 3. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_0547911 – 48MAPHR…VPEAR → MPLCT in isoform 4. 1 PublicationAdd BLAST48

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04412 mRNA Translation: CAA28000.1
AK096280 mRNA Translation: BAG53247.1
AK125819 mRNA Translation: BAG54252.1
AK295572 mRNA Translation: BAH12109.1
AK299453 mRNA Translation: BAH13037.1
AK315494 mRNA Translation: BAG37878.1
AL137068 Genomic DNA No translation available.
AL513122 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87489.1
CH471090 Genomic DNA Translation: EAW87490.1
CH471090 Genomic DNA Translation: EAW87491.1
BC017491 mRNA Translation: AAH17491.1
BC026033 mRNA Translation: AAH26033.1
CCDSiCCDS48011.1 [P06396-3]
CCDS65118.1 [P06396-4]
CCDS6828.1 [P06396-1]
CCDS6829.1 [P06396-2]
PIRiA03011 FAHUP
RefSeqiNP_000168.1, NM_000177.4 [P06396-1]
NP_001121134.1, NM_001127662.1 [P06396-2]
NP_001121135.2, NM_001127663.1
NP_001121136.1, NM_001127664.1 [P06396-2]
NP_001121137.1, NM_001127665.1 [P06396-2]
NP_001121138.1, NM_001127666.1 [P06396-3]
NP_001121139.1, NM_001127667.1 [P06396-3]
NP_001244958.1, NM_001258029.1
NP_001244959.1, NM_001258030.1 [P06396-4]
NP_937895.1, NM_198252.2 [P06396-2]
XP_005252000.1, XM_005251943.1
XP_005252001.1, XM_005251944.1 [P06396-3]
XP_005252002.1, XM_005251945.3
XP_006717142.1, XM_006717079.1
XP_011516888.1, XM_011518586.1
XP_011516889.1, XM_011518587.2
XP_011516890.1, XM_011518588.2
XP_011516891.1, XM_011518589.2
XP_011516892.1, XM_011518590.2
XP_011516893.1, XM_011518591.2
XP_011516894.1, XM_011518592.1
XP_011516895.1, XM_011518593.1 [P06396-2]
XP_016870135.1, XM_017014646.1
XP_016870136.1, XM_017014647.1
XP_016870137.1, XM_017014648.1 [P06396-3]
UniGeneiHs.522373

Genome annotation databases

EnsembliENST00000373808; ENSP00000362914; ENSG00000148180 [P06396-3]
ENST00000373818; ENSP00000362924; ENSG00000148180 [P06396-1]
ENST00000373823; ENSP00000362929; ENSG00000148180 [P06396-2]
ENST00000545652; ENSP00000445823; ENSG00000148180 [P06396-4]
GeneIDi2934
KEGGihsa:2934
UCSCiuc004ble.1 human [P06396-1]

Keywords - Coding sequence diversityi

Alternative initiation, Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Gelsolin entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X04412 mRNA Translation: CAA28000.1
AK096280 mRNA Translation: BAG53247.1
AK125819 mRNA Translation: BAG54252.1
AK295572 mRNA Translation: BAH12109.1
AK299453 mRNA Translation: BAH13037.1
AK315494 mRNA Translation: BAG37878.1
AL137068 Genomic DNA No translation available.
AL513122 Genomic DNA No translation available.
CH471090 Genomic DNA Translation: EAW87489.1
CH471090 Genomic DNA Translation: EAW87490.1
CH471090 Genomic DNA Translation: EAW87491.1
BC017491 mRNA Translation: AAH17491.1
BC026033 mRNA Translation: AAH26033.1
CCDSiCCDS48011.1 [P06396-3]
CCDS65118.1 [P06396-4]
CCDS6828.1 [P06396-1]
CCDS6829.1 [P06396-2]
PIRiA03011 FAHUP
RefSeqiNP_000168.1, NM_000177.4 [P06396-1]
NP_001121134.1, NM_001127662.1 [P06396-2]
NP_001121135.2, NM_001127663.1
NP_001121136.1, NM_001127664.1 [P06396-2]
NP_001121137.1, NM_001127665.1 [P06396-2]
NP_001121138.1, NM_001127666.1 [P06396-3]
NP_001121139.1, NM_001127667.1 [P06396-3]
NP_001244958.1, NM_001258029.1
NP_001244959.1, NM_001258030.1 [P06396-4]
NP_937895.1, NM_198252.2 [P06396-2]
XP_005252000.1, XM_005251943.1
XP_005252001.1, XM_005251944.1 [P06396-3]
XP_005252002.1, XM_005251945.3
XP_006717142.1, XM_006717079.1
XP_011516888.1, XM_011518586.1
XP_011516889.1, XM_011518587.2
XP_011516890.1, XM_011518588.2
XP_011516891.1, XM_011518589.2
XP_011516892.1, XM_011518590.2
XP_011516893.1, XM_011518591.2
XP_011516894.1, XM_011518592.1
XP_011516895.1, XM_011518593.1 [P06396-2]
XP_016870135.1, XM_017014646.1
XP_016870136.1, XM_017014647.1
XP_016870137.1, XM_017014648.1 [P06396-3]
UniGeneiHs.522373

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1C0FX-ray2.40S53-176[»]
1C0GX-ray2.00S53-176[»]
1D4XX-ray1.75G52-177[»]
1DEJX-ray2.40S53-176[»]
1EQYX-ray2.30S52-176[»]
1ESVX-ray2.00S52-176[»]
1H1VX-ray3.00G439-769[»]
1KCQX-ray1.65A185-288[»]
1MDUX-ray2.20A/D52-176[»]
1NLVX-ray1.80G52-176[»]
1NM1X-ray1.80G52-176[»]
1NMDX-ray1.90G52-176[»]
1P8XX-ray2.00A/B/C439-782[»]
1P8ZX-ray2.60G52-187[»]
1SOLNMR-A177-196[»]
1T44X-ray2.00G55-179[»]
1YAGX-ray1.90G52-176[»]
1YVNX-ray2.10G52-176[»]
2FF3X-ray2.00A52-179[»]
2FF6X-ray2.05G52-179[»]
2FH1X-ray1.55A/B/C439-782[»]
2FH2X-ray2.50A/B/C439-782[»]
2FH3X-ray2.87A/B/C439-782[»]
2FH4X-ray3.00A/B/C439-782[»]
3A5LX-ray2.40S53-176[»]
3A5MX-ray2.40S53-176[»]
3A5NX-ray2.36S53-176[»]
3A5OX-ray2.40S53-176[»]
3CI5X-ray1.70G52-176[»]
3CIPX-ray1.60G52-176[»]
3CJBX-ray3.21G52-176[»]
3CJCX-ray3.90G52-176[»]
3FFKX-ray3.00A/D52-426[»]
3FFNX-ray3.00A/B1-782[»]
3TU5X-ray3.00B53-174[»]
4PKGX-ray1.80G52-176[»]
4PKHX-ray2.15B/E/G/J52-176[»]
B/E/G/J196-260[»]
4PKIX-ray2.30G52-176[»]
4S10X-ray2.61C/D186-288[»]
4Z94X-ray2.40G52-176[»]
5DD2X-ray2.60A/G55-188[»]
5FAEX-ray1.70A178-293[»]
5FAFX-ray1.05A178-293[»]
5H3MNMR-A55-187[»]
5H3NNMR-A55-187[»]
5O2ZX-ray1.70A/B178-293[»]
5UBOX-ray2.39S52-178[»]
ProteinModelPortaliP06396
SMRiP06396
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109189, 100 interactors
CORUMiP06396
DIPiDIP-2196N
IntActiP06396, 57 interactors
MINTiP06396
STRINGi9606.ENSP00000362924

Chemistry databases

DrugBankiDB02621 Latrunculin A

PTM databases

iPTMnetiP06396
PhosphoSitePlusiP06396
SwissPalmiP06396

Polymorphism and mutation databases

BioMutaiGSN
DMDMi121116

2D gel databases

OGPiP06396

Proteomic databases

EPDiP06396
PaxDbiP06396
PeptideAtlasiP06396
PRIDEiP06396
ProteomicsDBi12635 [P06396-3]
51897
51898 [P06396-2]
51899 [P06396-3]

Protocols and materials databases

DNASUi2934
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373808; ENSP00000362914; ENSG00000148180 [P06396-3]
ENST00000373818; ENSP00000362924; ENSG00000148180 [P06396-1]
ENST00000373823; ENSP00000362929; ENSG00000148180 [P06396-2]
ENST00000545652; ENSP00000445823; ENSG00000148180 [P06396-4]
GeneIDi2934
KEGGihsa:2934
UCSCiuc004ble.1 human [P06396-1]

Organism-specific databases

CTDi2934
DisGeNETi2934
EuPathDBiHostDB:ENSG00000148180.17
GeneCardsiGSN
HGNCiHGNC:4620 GSN
HPAiCAB010823
CAB016728
CAB036009
HPA054026
MalaCardsiGSN
MIMi105120 phenotype
137350 gene
neXtProtiNX_P06396
OpenTargetsiENSG00000148180
Orphaneti85448 Familial amyloidosis, Finnish type
PharmGKBiPA29011
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0443 Eukaryota
ENOG410XR0A LUCA
GeneTreeiENSGT00760000119111
HOGENOMiHOG000233630
HOVERGENiHBG004183
InParanoidiP06396
KOiK05768
OMAiEWPQTPD
OrthoDBiEOG091G05SC
PhylomeDBiP06396
TreeFamiTF313468

Enzyme and pathway databases

ReactomeiR-HSA-264870 Caspase-mediated cleavage of cytoskeletal proteins
R-HSA-6798695 Neutrophil degranulation
R-HSA-977225 Amyloid fiber formation
SABIO-RKiP06396
SIGNORiP06396

Miscellaneous databases

ChiTaRSiGSN human
EvolutionaryTraceiP06396
GeneWikiiGelsolin
GenomeRNAii2934
PMAP-CutDBiP06396
PROiPR:P06396
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148180 Expressed in 243 organ(s), highest expression level in adipose tissue of abdominal region
CleanExiHS_GSN
ExpressionAtlasiP06396 baseline and differential
GenevisibleiP06396 HS

Family and domain databases

Gene3Di3.40.20.10, 6 hits
InterProiView protein in InterPro
IPR029006 ADF-H/Gelsolin-like_dom_sf
IPR030004 Gelsolin
IPR007123 Gelsolin-like_dom
IPR007122 Villin/Gelsolin
PANTHERiPTHR11977 PTHR11977, 1 hit
PTHR11977:SF29 PTHR11977:SF29, 1 hit
PfamiView protein in Pfam
PF00626 Gelsolin, 6 hits
PRINTSiPR00597 GELSOLIN
SMARTiView protein in SMART
SM00262 GEL, 6 hits
ProtoNetiSearch...

Entry informationi

Entry nameiGELS_HUMAN
AccessioniPrimary (citable) accession number: P06396
Secondary accession number(s): A2A418
, A8MUD1, A8MYN7, B7Z373, B7Z5V1, F5H1A8, Q5T0I2, Q8WVV7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 1, 1988
Last sequence update: January 1, 1988
Last modified: October 10, 2018
This is version 224 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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