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Protein

SH3 and PX domain-containing protein 2B

Gene

SH3PXD2B

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

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

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
  • oxidation-reduction process Source: GO_Central
  • 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 processDifferentiation

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 and PX domain-containing protein 2B
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000174705.11
HGNCiHGNC:29242 SH3PXD2B
MIMi613293 gene
neXtProtiNX_A1X283

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

Cell junction, Cell projection, Cytoplasm

Pathology & 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.
See also OMIM:249420
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06376443R → W in FTHS. 1 PublicationCorresponds to variant dbSNP:rs267607046EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi285590
MalaCardsiSH3PXD2B
MIMi249420 phenotype
OpenTargetsiENSG00000174705
Orphaneti1266 Dermato-cardio-skeletal syndrome, Borrone type
137834 Frank-Ter Haar syndrome
PharmGKBiPA134864119

Polymorphism and mutation databases

BioMutaiSH3PXD2B

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003122011 – 911SH3 and PX domain-containing protein 2BAdd BLAST911

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei25PhosphotyrosineBy similarity1
Modified residuei279PhosphoserineCombined sources1
Modified residuei291PhosphoserineCombined sources1
Modified residuei499PhosphoserineBy similarity1
Modified residuei528PhosphoserineBy similarity1
Modified residuei843PhosphoserineBy similarity1

Post-translational modificationi

Phosphorylated in SRC-transformed cells.By similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiA1X283
MaxQBiA1X283
PaxDbiA1X283
PRIDEiA1X283
ProteomicsDBi156

PTM databases

iPTMnetiA1X283
PhosphoSitePlusiA1X283

Expressioni

Tissue specificityi

Expressed in fibroblasts.1 Publication

Gene expression databases

BgeeiENSG00000174705
CleanExiHS_SH3PXD2B
ExpressionAtlasiA1X283 baseline and differential
GenevisibleiA1X283 HS

Organism-specific databases

HPAiHPA036471

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 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi130149, 18 interactors
IntActiA1X283, 5 interactors
MINTiA1X283
STRINGi9606.ENSP00000309714

Structurei

3D structure databases

ProteinModelPortaliA1X283
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini5 – 129PXPROSITE-ProRule annotationAdd BLAST125
Domaini152 – 211SH3 1PROSITE-ProRule annotationAdd BLAST60
Domaini221 – 280SH3 2PROSITE-ProRule annotationAdd BLAST60
Domaini368 – 427SH3 3PROSITE-ProRule annotationAdd BLAST60
Domaini850 – 911SH3 4PROSITE-ProRule annotationAdd BLAST62

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi729 – 806Pro-richAdd BLAST78

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 domain

Phylogenomic databases

eggNOGiKOG4773 Eukaryota
ENOG410YBFF LUCA
GeneTreeiENSGT00530000063010
HOGENOMiHOG000154376
HOVERGENiHBG107128
InParanoidiA1X283
OMAiWFCQVLS
OrthoDBiEOG091G00YX
PhylomeDBiA1X283
TreeFamiTF329347

Family and domain databases

CDDicd06888 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
Gene3Di3.30.1520.10, 1 hit
InterProiView protein in InterPro
IPR001683 Phox
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
PANTHERiPTHR15706:SF2 PTHR15706:SF2, 1 hit
PfamiView protein in Pfam
PF00787 PX, 1 hit
PF00018 SH3_1, 3 hits
PF07653 SH3_2, 1 hit
SMARTiView protein in SMART
SM00312 PX, 1 hit
SM00326 SH3, 4 hits
SUPFAMiSSF50044 SSF50044, 4 hits
SSF64268 SSF64268, 1 hit
PROSITEiView protein in PROSITE
PS50195 PX, 1 hit
PS50002 SH3, 4 hits

Sequencei

Sequence statusi: Complete.

A1X283-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:911
Mass (Da):101,579
Last modified:May 5, 2009 - v3
Checksum:iA5AA524F9AA21318
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti28I → V in AAZ99795 (Ref. 2) Curated1
Sequence conflicti72I → T in AAZ99795 (Ref. 2) Curated1
Sequence conflicti712R → G in AAZ99795 (Ref. 2) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06376443R → W in FTHS. 1 PublicationCorresponds to variant dbSNP:rs267607046EnsemblClinVar.1
Natural variantiVAR_046226101Y → 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
CCDSiCCDS34291.1
RefSeqiNP_001017995.1, NM_001017995.2
UniGeneiHs.285666

Genome annotation databases

EnsembliENST00000311601; ENSP00000309714; ENSG00000174705
GeneIDi285590
KEGGihsa:285590
UCSCiuc003mbr.3 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiSPD2B_HUMAN
AccessioniPrimary (citable) accession number: A1X283
Secondary accession number(s): B6F0V2, Q9P2Q1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: May 5, 2009
Last modified: June 20, 2018
This is version 98 of the entry and version 3 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: 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. SIMILARITY comments
    Index of protein domains and families

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