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Protein

Switch-associated protein 70

Gene

SWAP70

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Phosphatidylinositol 3,4,5-trisphosphate-dependent guanine nucleotide exchange factor (GEF) which, independently of RAS, transduces signals from tyrosine kinase receptors to RAC. It also mediates signaling of membrane ruffling. Regulates the actin cytoskeleton as an effector or adapter protein in response to agonist stimulated phosphatidylinositol (3,4)-bisphosphate production and cell protrusion (By similarity).By similarity2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Switch-associated protein 70
Short name:
SWAP-70
Gene namesi
Name:SWAP70
Synonyms:KIAA0640
ORF Names:HSPC321
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:17070. SWAP70.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Cytoplasm, Cytoskeleton, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi223 – 2242RR → EE: Abolishes binding to phosphatidylinositol 3,4-bisphosphate and phosphatidic acid and the localization to the loose actin filament arrays. 1 Publication
Mutagenesisi230 – 2301R → C: Reduced binding to phosphatidylinositol 3,4-bisphosphate and reduced association with actin filament. 1 Publication
Mutagenesisi297 – 2971W → A: Abolishes binding to plasma membrane. 1 Publication
Mutagenesisi526 – 58560Missing : Affects targeting to loose actin filament arrays. 1 PublicationAdd
BLAST

Organism-specific databases

PharmGKBiPA165543694.

Polymorphism and mutation databases

BioMutaiSWAP70.
DMDMi74753323.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 585585Switch-associated protein 70PRO_0000240280Add
BLAST

Post-translational modificationi

Tyrosine-phosphorylated.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UH65.
MaxQBiQ9UH65.
PaxDbiQ9UH65.
PeptideAtlasiQ9UH65.
PRIDEiQ9UH65.

PTM databases

iPTMnetiQ9UH65.
PhosphoSiteiQ9UH65.

Expressioni

Tissue specificityi

Expressed only in mature B-cells including those associated with mucosa-associated tissue and bronchus-associated tissue (PubMed:10681448). Widely expressed. Abundant in spleen, and fairly abundant in kidney, lung and liver. Also found in monocytes and macrophages (PubMed:12925760).2 Publications

Gene expression databases

BgeeiQ9UH65.
ExpressionAtlasiQ9UH65. baseline and differential.
GenevisibleiQ9UH65. HS.

Organism-specific databases

HPAiHPA006810.

Interactioni

Subunit structurei

The SWAP complex consists of NPM1, NCL, PARP1 and SWAP70.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ZBTB5O150623EBI-310749,EBI-722671

Protein-protein interaction databases

BioGridi116707. 30 interactions.
IntActiQ9UH65. 4 interactions.
STRINGi9606.ENSP00000315630.

Structurei

Secondary structure

1
585
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi212 – 2209Combined sources
Beta strandi227 – 2348Combined sources
Beta strandi239 – 2446Combined sources
Beta strandi248 – 2547Combined sources
Beta strandi261 – 2655Combined sources
Beta strandi273 – 2786Combined sources
Beta strandi283 – 2875Combined sources
Helixi291 – 31020Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DN6NMR-A211-312[»]
ProteinModelPortaliQ9UH65.
SMRiQ9UH65. Positions 3-77, 211-315.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9UH65.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini210 – 30697PHPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili316 – 539224Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi291 – 2944Poly-Lys

Domaini

The PH domain is essential for phosphatidylinositol 3,4,5-trisphosphate binding.

Sequence similaritiesi

Contains 1 PH domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410ITNV. Eukaryota.
ENOG4111DEK. LUCA.
GeneTreeiENSGT00390000005512.
HOGENOMiHOG000285974.
HOVERGENiHBG053201.
InParanoidiQ9UH65.
KOiK20072.
OMAiEQYEGVK.
OrthoDBiEOG7H1JK5.
PhylomeDBiQ9UH65.
TreeFamiTF333160.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q9UH65-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGSLKEELLK AIWHAFTALD QDHSGKVSKS QLKVLSHNLC TVLKVPHDPV
60 70 80 90 100
ALEEHFRDDD EGPVSNQGYM PYLNRFILEK VQDNFDKIEF NRMCWTLCVK
110 120 130 140 150
KNLTKNPLLI TEEDAFKIWV IFNFLSEDKY PLIIVSEEIE YLLKKLTEAM
160 170 180 190 200
GGGWQQEQFE HYKINFDDSK NGLSAWELIE LIGNGQFSKG MDRQTVSMAI
210 220 230 240 250
NEVFNELILD VLKQGYMMKK GHRRKNWTER WFVLKPNIIS YYVSEDLKDK
260 270 280 290 300
KGDILLDENC CVESLPDKDG KKCLFLVKCF DKTFEISASD KKKKQEWIQA
310 320 330 340 350
IHSTIHLLKL GSPPPHKEAR QRRKELRKKQ LAEQEELERQ MKELQAANES
360 370 380 390 400
KQQELEAVRK KLEEAASRAA EEEKKRLQTQ VELQARFSTE LEREKLIRQQ
410 420 430 440 450
MEEQVAQKSS ELEQYLQRVR ELEDMYLKLQ EALEDERQAR QDEETVRKLQ
460 470 480 490 500
ARLLEEESSK RAELEKWHLE QQQAIQTTEA EKQELENQRV LKEQALQEAM
510 520 530 540 550
EQLEQLELER KQALEQYEEV KKKLEMATNK TKSWKDKVAH HEGLIRLIEP
560 570 580
GSKNPHLITN WGPAAFTEAE LEEREKNWKE KKTTE
Length:585
Mass (Da):68,998
Last modified:May 1, 2000 - v1
Checksum:iB42B63CF033E612F
GO

Sequence cautioni

The sequence AAF28999.1 differs from that shown. Reason: Frameshift at positions 480 and 483. Curated
The sequence BAA31615.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti385 – 3851A → S (Ref. 7) Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti230 – 2301R → G.
Corresponds to variant rs397686 [ dbSNP | Ensembl ].
VAR_059548
Natural varianti505 – 5051Q → E.4 Publications
Corresponds to variant rs415895 [ dbSNP | Ensembl ].
VAR_026717

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF210818 mRNA. Translation: AAF24486.1.
AF134894 mRNA. Translation: AAF61403.1.
AB014540 mRNA. Translation: BAA31615.1. Different initiation.
CH471064 Genomic DNA. Translation: EAW68582.1.
CH471064 Genomic DNA. Translation: EAW68583.1.
BC000616 mRNA. Translation: AAH00616.1.
AF161439 mRNA. Translation: AAF28999.1. Frameshift.
CCDSiCCDS31426.1.
PIRiT00379.
RefSeqiNP_001284643.1. NM_001297714.1.
NP_055870.2. NM_015055.3.
UniGeneiHs.153026.

Genome annotation databases

EnsembliENST00000318950; ENSP00000315630; ENSG00000133789.
GeneIDi23075.
KEGGihsa:23075.
UCSCiuc001mhw.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF210818 mRNA. Translation: AAF24486.1.
AF134894 mRNA. Translation: AAF61403.1.
AB014540 mRNA. Translation: BAA31615.1. Different initiation.
CH471064 Genomic DNA. Translation: EAW68582.1.
CH471064 Genomic DNA. Translation: EAW68583.1.
BC000616 mRNA. Translation: AAH00616.1.
AF161439 mRNA. Translation: AAF28999.1. Frameshift.
CCDSiCCDS31426.1.
PIRiT00379.
RefSeqiNP_001284643.1. NM_001297714.1.
NP_055870.2. NM_015055.3.
UniGeneiHs.153026.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DN6NMR-A211-312[»]
ProteinModelPortaliQ9UH65.
SMRiQ9UH65. Positions 3-77, 211-315.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116707. 30 interactions.
IntActiQ9UH65. 4 interactions.
STRINGi9606.ENSP00000315630.

PTM databases

iPTMnetiQ9UH65.
PhosphoSiteiQ9UH65.

Polymorphism and mutation databases

BioMutaiSWAP70.
DMDMi74753323.

Proteomic databases

EPDiQ9UH65.
MaxQBiQ9UH65.
PaxDbiQ9UH65.
PeptideAtlasiQ9UH65.
PRIDEiQ9UH65.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318950; ENSP00000315630; ENSG00000133789.
GeneIDi23075.
KEGGihsa:23075.
UCSCiuc001mhw.4. human.

Organism-specific databases

CTDi23075.
GeneCardsiSWAP70.
HGNCiHGNC:17070. SWAP70.
HPAiHPA006810.
MIMi604762. gene.
neXtProtiNX_Q9UH65.
PharmGKBiPA165543694.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ITNV. Eukaryota.
ENOG4111DEK. LUCA.
GeneTreeiENSGT00390000005512.
HOGENOMiHOG000285974.
HOVERGENiHBG053201.
InParanoidiQ9UH65.
KOiK20072.
OMAiEQYEGVK.
OrthoDBiEOG7H1JK5.
PhylomeDBiQ9UH65.
TreeFamiTF333160.

Miscellaneous databases

ChiTaRSiSWAP70. human.
EvolutionaryTraceiQ9UH65.
GeneWikiiSWAP70.
GenomeRNAii23075.
PROiQ9UH65.
SOURCEiSearch...

Gene expression databases

BgeeiQ9UH65.
ExpressionAtlasiQ9UH65. baseline and differential.
GenevisibleiQ9UH65. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR011992. EF-hand-dom_pair.
IPR002048. EF_hand_dom.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00169. PH. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
[Graphical view]
SUPFAMiSSF47473. SSF47473. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, PHOSPHORYLATION, MUTAGENESIS OF TRP-297.
  2. "Analysis of SWAP-70 as a candidate gene for non-X-linked hyper IgM syndrome and common variable immunodeficiency."
    Rapalus L., Minegishi Y., Lavoie A., Cunningham-Rundles C., Conley M.E.
    Clin. Immunol. 101:270-275(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLU-505.
  3. "Human SWAP-70 homolog."
    Monz D.W., Comtesse N.E., Heckel D.
    Submitted (MAR-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLU-505.
  4. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLU-505.
    Tissue: Brain.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-505.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin.
  7. "Human partial CDS from CD34+ stem cells."
    Ye M., Zhang Q.-H., Zhou J., Shen Y., Wu X.-Y., Guan Z.Q., Wang L., Fan H.-Y., Mao Y.-F., Dai M., Huang Q.-H., Chen S.-J., Chen Z.
    Submitted (MAY-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 355-543.
    Tissue: Umbilical cord blood.
  8. "SWAP-70 identifies a transitional subset of actin filaments in motile cells."
    Hilpelae P., Oberbanscheidt P., Hahne P., Hund M., Kalhammer G., Small J.V., Baehler M.
    Mol. Biol. Cell 14:3242-3253(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF 223-ARG-ARG-224; ARG-230 AND 526-MET--GLU-585.
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "Solution structure of the PH domain of KIAA0640 protein from human."
    RIKEN structural genomics initiative (RSGI)
    Submitted (OCT-2006) to the PDB data bank
    Cited for: STRUCTURE BY NMR OF 211-312.

Entry informationi

Entry nameiSWP70_HUMAN
AccessioniPrimary (citable) accession number: Q9UH65
Secondary accession number(s): D3DQV1
, O75135, Q7LCY6, Q9P061, Q9P0Z8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: May 1, 2000
Last modified: June 8, 2016
This is version 132 of the entry and version 1 of the sequence. [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, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.