UniProtKB - A1X283 (SPD2B_HUMAN)
Protein
SH3 and PX domain-containing protein 2B
Gene
SH3PXD2B
Organism
Homo sapiens (Human)
Status
Functioni
Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity).By similarity3 Publications
GO - Molecular functioni
- phosphatidylinositol-3,5-bisphosphate binding Source: UniProtKB
- phosphatidylinositol-3-phosphate binding Source: UniProtKB
- phosphatidylinositol-4-phosphate binding Source: GO_Central
- phosphatidylinositol-5-phosphate binding Source: UniProtKB
- SH2 domain binding Source: UniProtKB
- superoxide-generating NADPH oxidase activator activity Source: GO_Central
GO - Biological processi
- adipose tissue development Source: UniProtKB
- bone development Source: UniProtKB
- cranial skeletal system development Source: Ensembl
- extracellular matrix disassembly Source: UniProtKB
- eye development Source: UniProtKB
- heart development Source: UniProtKB
- osteoblast fate commitment Source: Ensembl
- podosome assembly Source: UniProtKB
- positive regulation of adipose tissue development Source: Ensembl
- positive regulation of fat cell differentiation Source: Ensembl
- positive regulation of gene expression Source: Ensembl
- positive regulation of multicellular organism growth Source: Ensembl
- positive regulation of stress fiber assembly Source: Ensembl
- protein localization to membrane Source: UniProtKB
- regulation of brood size Source: Ensembl
- skeletal system development Source: UniProtKB
- skeletal system morphogenesis Source: Ensembl
- superoxide metabolic process Source: UniProtKB
Keywordsi
Biological process | Differentiation |
Enzyme and pathway databases
PathwayCommonsi | A1X283 |
Names & Taxonomyi
Protein namesi | Recommended name: SH3 and PX domain-containing protein 2BAlternative name(s): Adapter protein HOFI Factor for adipocyte differentiation 49 Tyrosine kinase substrate with four SH3 domains |
Gene namesi | Name:SH3PXD2B Synonyms:FAD49, KIAA1295, TKS4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000174705.11 |
HGNCi | HGNC:29242, SH3PXD2B |
MIMi | 613293, gene |
neXtProti | NX_A1X283 |
Subcellular locationi
Cytoskeleton
- podosome Source: UniProtKB
Other locations
- cell junction Source: UniProtKB-KW
- cell projection Source: UniProtKB-KW
- cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cell junction, Cell projection, CytoplasmPathology & Biotechi
Involvement in diseasei
Frank-Ter Haar syndrome (FTHS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063764 | 43 | R → W in FTHS. 1 PublicationCorresponds to variant dbSNP:rs267607046EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 285590 |
MalaCardsi | SH3PXD2B |
MIMi | 249420, phenotype |
OpenTargetsi | ENSG00000174705 |
Orphaneti | 137834, Frank-Ter Haar syndrome |
PharmGKBi | PA134864119 |
Miscellaneous databases
Pharosi | A1X283, Tbio |
Polymorphism and mutation databases
BioMutai | SH3PXD2B |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000312201 | 1 – 911 | SH3 and PX domain-containing protein 2BAdd BLAST | 911 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 25 | PhosphotyrosineBy similarity | 1 | |
Modified residuei | 279 | PhosphoserineCombined sources | 1 | |
Modified residuei | 291 | PhosphoserineCombined sources | 1 | |
Modified residuei | 499 | PhosphoserineBy similarity | 1 | |
Modified residuei | 528 | PhosphoserineBy similarity | 1 | |
Modified residuei | 843 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Phosphorylated in SRC-transformed cells.By similarity
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | A1X283 |
jPOSTi | A1X283 |
MassIVEi | A1X283 |
MaxQBi | A1X283 |
PaxDbi | A1X283 |
PeptideAtlasi | A1X283 |
PRIDEi | A1X283 |
ProteomicsDBi | 156 |
PTM databases
iPTMneti | A1X283 |
PhosphoSitePlusi | A1X283 |
Expressioni
Tissue specificityi
Expressed in fibroblasts.1 Publication
Gene expression databases
Bgeei | ENSG00000174705, Expressed in uterine cervix and 190 other tissues |
ExpressionAtlasi | A1X283, baseline and differential |
Genevisiblei | A1X283, HS |
Organism-specific databases
HPAi | ENSG00000174705, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with ADAM15 (By similarity).
Interacts with NOXO1.
Interacts (via SH3 domains) with NOXA1; the interaction is direct.
Interacts with FASLG.
By similarity4 PublicationsGO - Molecular functioni
- SH2 domain binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 130149, 22 interactors |
IntActi | A1X283, 10 interactors |
MINTi | A1X283 |
STRINGi | 9606.ENSP00000309714 |
Miscellaneous databases
RNActi | A1X283, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 5 – 129 | PXPROSITE-ProRule annotationAdd BLAST | 125 | |
Domaini | 152 – 211 | SH3 1PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 221 – 280 | SH3 2PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 368 – 427 | SH3 3PROSITE-ProRule annotationAdd BLAST | 60 | |
Domaini | 850 – 911 | SH3 4PROSITE-ProRule annotationAdd BLAST | 62 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 729 – 806 | Pro-richAdd BLAST | 78 |
Domaini
The PX domain is required for podosome localization because of its ability to bind phosphatidylinositol 3-phosphate (PtdIns3P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and, to a lesser extent, phosphatidylinositol 4-phosphate (PtdIns4P), phosphatidylinositol 5-phosphate (PtdIns5P), and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Binds to the third intramolecular SH3 domain (By similarity).By similarity
Sequence similaritiesi
Belongs to the SH3PXD2 family.Curated
Keywords - Domaini
Repeat, SH3 domainPhylogenomic databases
eggNOGi | KOG0905, Eukaryota |
GeneTreei | ENSGT00940000158396 |
HOGENOMi | CLU_013051_1_0_1 |
InParanoidi | A1X283 |
OMAi | PMIPTKH |
OrthoDBi | 1183210at2759 |
PhylomeDBi | A1X283 |
TreeFami | TF329347 |
Family and domain databases
CDDi | cd06888, PX_FISH, 1 hit cd12075, SH3_Tks4_1, 1 hit cd12076, SH3_Tks4_2, 1 hit cd12078, SH3_Tks4_3, 1 hit cd12018, SH3_Tks4_4, 1 hit |
Gene3Di | 3.30.1520.10, 1 hit |
InterProi | View protein in InterPro IPR001683, PX_dom IPR036871, PX_dom_sf IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR037961, SH3PXD2_PX IPR030512, SH3PXD2B IPR035477, SH3PXD2B_SH3_1 IPR035478, SH3PXD2B_SH3_2 IPR035479, SH3PXD2B_SH3_3 IPR035480, SH3PXD2B_SH3_4 |
PANTHERi | PTHR15706:SF19, PTHR15706:SF19, 1 hit |
Pfami | View protein in Pfam PF00787, PX, 1 hit PF00018, SH3_1, 3 hits PF07653, SH3_2, 1 hit |
SMARTi | View protein in SMART SM00312, PX, 1 hit SM00326, SH3, 4 hits |
SUPFAMi | SSF50044, SSF50044, 4 hits SSF64268, SSF64268, 1 hit |
PROSITEi | View protein in PROSITE PS50195, PX, 1 hit PS50002, SH3, 4 hits |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All
A1X283-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MPPRRSIVEV KVLDVQKRRV PNKHYVYIIR VTWSSGSTEA IYRRYSKFFD
60 70 80 90 100
LQMQMLDKFP MEGGQKDPKQ RIIPFLPGKI LFRRSHIRDV AVKRLIPIDE
110 120 130 140 150
YCKALIQLPP YISQCDEVLQ FFETRPEDLN PPKEEHIGKK KSGGDQTSVD
160 170 180 190 200
PMVLEQYVVV ANYQKQESSE ISLSVGQVVD IIEKNESGWW FVSTAEEQGW
210 220 230 240 250
VPATCLEGQD GVQDEFSLQP EEEEKYTVIY PYTARDQDEM NLERGAVVEV
260 270 280 290 300
IQKNLEGWWK IRYQGKEGWA PASYLKKNSG EPLPPKPGPG SPSHPGALDL
310 320 330 340 350
DGVSRQQNAV GREKELLSSQ RDGRFEGRPV PDGDAKQRSP KMRQRPPPRR
360 370 380 390 400
DMTIPRGLNL PKPPIPPQVE EEYYTIAEFQ TTIPDGISFQ AGLKVEVIEK
410 420 430 440 450
NLSGWWYIQI EDKEGWAPAT FIDKYKKTSN ASRPNFLAPL PHEVTQLRLG
460 470 480 490 500
EAAALENNTG SEATGPSRPL PDAPHGVMDS GLPWSKDWKG SKDVLRKASS
510 520 530 540 550
DMSASAGYEE ISDPDMEEKP SLPPRKESII KSEGELLERE RERQRTEQLR
560 570 580 590 600
GPTPKPPGVI LPMMPAKHIP PARDSRRPEP KPDKSRLFQL KNDMGLECGH
610 620 630 640 650
KVLAKEVKKP NLRPISKSKT DLPEEKPDAT PQNPFLKSRP QVRPKPAPSP
660 670 680 690 700
KTEPPQGEDQ VDICNLRSKL RPAKSQDKSL LDGEGPQAVG GQDVAFSRSF
710 720 730 740 750
LPGEGPGRAQ DRTGKQDGLS PKEISCRAPP RPAKTTDPVS KSVPVPLQEA
760 770 780 790 800
PQQRPVVPPR RPPPPKKTSS SSRPLPEVRG PQCEGHESRA APTPGRALLV
810 820 830 840 850
PPKAKPFLSN SLGGQDDTRG KGSLGPWGTG KIGENREKAA AASVPNADGL
860 870 880 890 900
KDSLYVAVAD FEGDKDTSSF QEGTVFEVRE KNSSGWWFCQ VLSGAPSWEG
910
WIPSNYLRKK P
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V144 | G3V144_HUMAN | SH3 and PX domain-containing protei... | SH3PXD2B hCG_40282 | 430 | Annotation score: | ||
A0A1B0GUF2 | A0A1B0GUF2_HUMAN | SH3 and PX domain-containing protei... | SH3PXD2B | 444 | Annotation score: | ||
H0YAU1 | H0YAU1_HUMAN | SH3 and PX domain-containing protei... | SH3PXD2B | 81 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 28 | I → V in AAZ99795 (Ref. 2) Curated | 1 | |
Sequence conflicti | 72 | I → T in AAZ99795 (Ref. 2) Curated | 1 | |
Sequence conflicti | 712 | R → G in AAZ99795 (Ref. 2) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_063764 | 43 | R → W in FTHS. 1 PublicationCorresponds to variant dbSNP:rs267607046EnsemblClinVar. | 1 | |
Natural variantiVAR_046226 | 101 | Y → F. Corresponds to variant dbSNP:rs6880739Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB430862 mRNA Translation: BAG81977.1 DQ109556 mRNA Translation: AAZ99795.1 AC008671 Genomic DNA No translation available. AC011407 Genomic DNA No translation available. AC090064 Genomic DNA No translation available. AB037716 mRNA Translation: BAA92533.1 |
CCDSi | CCDS34291.1 |
RefSeqi | NP_001017995.1, NM_001017995.2 |
Genome annotation databases
Ensembli | ENST00000311601; ENSP00000309714; ENSG00000174705 |
GeneIDi | 285590 |
KEGGi | hsa:285590 |
UCSCi | uc003mbr.3, human |
Keywords - Coding sequence diversityi
PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB430862 mRNA Translation: BAG81977.1 DQ109556 mRNA Translation: AAZ99795.1 AC008671 Genomic DNA No translation available. AC011407 Genomic DNA No translation available. AC090064 Genomic DNA No translation available. AB037716 mRNA Translation: BAA92533.1 |
CCDSi | CCDS34291.1 |
RefSeqi | NP_001017995.1, NM_001017995.2 |
3D structure databases
SMRi | A1X283 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 130149, 22 interactors |
IntActi | A1X283, 10 interactors |
MINTi | A1X283 |
STRINGi | 9606.ENSP00000309714 |
PTM databases
iPTMneti | A1X283 |
PhosphoSitePlusi | A1X283 |
Polymorphism and mutation databases
BioMutai | SH3PXD2B |
Proteomic databases
EPDi | A1X283 |
jPOSTi | A1X283 |
MassIVEi | A1X283 |
MaxQBi | A1X283 |
PaxDbi | A1X283 |
PeptideAtlasi | A1X283 |
PRIDEi | A1X283 |
ProteomicsDBi | 156 |
Protocols and materials databases
ABCDi | A1X283, 20 sequenced antibodies |
Antibodypediai | 49665, 84 antibodies |
DNASUi | 285590 |
Genome annotation databases
Ensembli | ENST00000311601; ENSP00000309714; ENSG00000174705 |
GeneIDi | 285590 |
KEGGi | hsa:285590 |
UCSCi | uc003mbr.3, human |
Organism-specific databases
CTDi | 285590 |
DisGeNETi | 285590 |
EuPathDBi | HostDB:ENSG00000174705.11 |
GeneCardsi | SH3PXD2B |
HGNCi | HGNC:29242, SH3PXD2B |
HPAi | ENSG00000174705, Low tissue specificity |
MalaCardsi | SH3PXD2B |
MIMi | 249420, phenotype 613293, gene |
neXtProti | NX_A1X283 |
OpenTargetsi | ENSG00000174705 |
Orphaneti | 137834, Frank-Ter Haar syndrome |
PharmGKBi | PA134864119 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0905, Eukaryota |
GeneTreei | ENSGT00940000158396 |
HOGENOMi | CLU_013051_1_0_1 |
InParanoidi | A1X283 |
OMAi | PMIPTKH |
OrthoDBi | 1183210at2759 |
PhylomeDBi | A1X283 |
TreeFami | TF329347 |
Enzyme and pathway databases
PathwayCommonsi | A1X283 |
Miscellaneous databases
BioGRID-ORCSi | 285590, 7 hits in 842 CRISPR screens |
ChiTaRSi | SH3PXD2B, human |
GenomeRNAii | 285590 |
Pharosi | A1X283, Tbio |
PROi | PR:A1X283 |
RNActi | A1X283, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174705, Expressed in uterine cervix and 190 other tissues |
ExpressionAtlasi | A1X283, baseline and differential |
Genevisiblei | A1X283, HS |
Family and domain databases
CDDi | cd06888, PX_FISH, 1 hit cd12075, SH3_Tks4_1, 1 hit cd12076, SH3_Tks4_2, 1 hit cd12078, SH3_Tks4_3, 1 hit cd12018, SH3_Tks4_4, 1 hit |
Gene3Di | 3.30.1520.10, 1 hit |
InterProi | View protein in InterPro IPR001683, PX_dom IPR036871, PX_dom_sf IPR036028, SH3-like_dom_sf IPR001452, SH3_domain IPR037961, SH3PXD2_PX IPR030512, SH3PXD2B IPR035477, SH3PXD2B_SH3_1 IPR035478, SH3PXD2B_SH3_2 IPR035479, SH3PXD2B_SH3_3 IPR035480, SH3PXD2B_SH3_4 |
PANTHERi | PTHR15706:SF19, PTHR15706:SF19, 1 hit |
Pfami | View protein in Pfam PF00787, PX, 1 hit PF00018, SH3_1, 3 hits PF07653, SH3_2, 1 hit |
SMARTi | View protein in SMART SM00312, PX, 1 hit SM00326, SH3, 4 hits |
SUPFAMi | SSF50044, SSF50044, 4 hits SSF64268, SSF64268, 1 hit |
PROSITEi | View protein in PROSITE PS50195, PX, 1 hit PS50002, SH3, 4 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | SPD2B_HUMAN | |
Accessioni | A1X283Primary (citable) accession number: A1X283 Secondary accession number(s): B6F0V2, Q9P2Q1 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 4, 2007 |
Last sequence update: | May 5, 2009 | |
Last modified: | December 2, 2020 | |
This is version 114 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 5
Human chromosome 5: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations