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Protein

SH3 and PX domain-containing protein 2B

Gene

SH3PXD2B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • cell differentiation Source: UniProtKB-KW
  • extracellular matrix disassembly Source: UniProtKB
  • eye development Source: UniProtKB
  • heart development Source: UniProtKB
  • oxidation-reduction process Source: GO_Central
  • podosome assembly Source: UniProtKB
  • positive regulation of fat cell differentiation Source: Ensembl
  • protein localization to membrane Source: UniProtKB
  • skeletal system development Source: UniProtKB
  • superoxide metabolic process Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Differentiation

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

HGNCiHGNC:29242. SH3PXD2B.

Subcellular locationi

  • Cytoplasm By similarity
  • Cell projectionpodosome By similarity

  • Note: Cytoplasmic in normal cells and localizes to podosomes in SRC-transformed cells.By similarity

GO - Cellular componenti

Complete GO annotation...

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 rs267607046dbSNPEnsembl.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 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.

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. 15 interactors.
IntActiA1X283. 5 interactors.
STRINGi9606.ENSP00000309714.

Structurei

3D structure databases

ProteinModelPortaliA1X283.
SMRiA1X283.
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
Domaini849 – 911SH3 4PROSITE-ProRule annotationAdd BLAST63

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
Contains 1 PX (phox homology) domain.PROSITE-ProRule annotation
Contains 4 SH3 domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, SH3 domain

Phylogenomic databases

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

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiIPR001683. Phox.
IPR011511. SH3_2.
IPR001452. SH3_domain.
IPR030512. SH3PXD2B.
[Graphical view]
PANTHERiPTHR15706:SF8. PTHR15706:SF8. 1 hit.
PfamiPF00787. PX. 1 hit.
PF00018. SH3_1. 3 hits.
PF07653. SH3_2. 1 hit.
[Graphical view]
SMARTiSM00312. PX. 1 hit.
SM00326. SH3. 4 hits.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 4 hits.
SSF64268. SSF64268. 1 hit.
PROSITEiPS50195. PX. 1 hit.
PS50002. SH3. 4 hits.
[Graphical view]

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 rs267607046dbSNPEnsembl.1
Natural variantiVAR_046226101Y → F.Corresponds to variant rs6880739dbSNPEnsembl.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

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.
CCDSiCCDS34291.1.
RefSeqiNP_001017995.1. NM_001017995.2.
UniGeneiHs.285666.

3D structure databases

ProteinModelPortaliA1X283.
SMRiA1X283.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi130149. 15 interactors.
IntActiA1X283. 5 interactors.
STRINGi9606.ENSP00000309714.

PTM databases

iPTMnetiA1X283.
PhosphoSitePlusiA1X283.

Polymorphism and mutation databases

BioMutaiSH3PXD2B.

Proteomic databases

EPDiA1X283.
MaxQBiA1X283.
PaxDbiA1X283.
PRIDEiA1X283.

Protocols and materials databases

DNASUi285590.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi285590.
DisGeNETi285590.
GeneCardsiSH3PXD2B.
H-InvDBHIX0005417.
HGNCiHGNC:29242. SH3PXD2B.
HPAiHPA036471.
MalaCardsiSH3PXD2B.
MIMi249420. phenotype.
613293. gene.
neXtProtiNX_A1X283.
OpenTargetsiENSG00000174705.
Orphaneti1266. Dermato-cardio-skeletal syndrome, Borrone type.
137834. Frank-Ter Haar syndrome.
PharmGKBiPA134864119.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

ChiTaRSiSH3PXD2B. human.
GenomeRNAii285590.
PROiA1X283.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174705.
CleanExiHS_SH3PXD2B.
ExpressionAtlasiA1X283. baseline and differential.
GenevisibleiA1X283. HS.

Family and domain databases

Gene3Di3.30.1520.10. 1 hit.
InterProiIPR001683. Phox.
IPR011511. SH3_2.
IPR001452. SH3_domain.
IPR030512. SH3PXD2B.
[Graphical view]
PANTHERiPTHR15706:SF8. PTHR15706:SF8. 1 hit.
PfamiPF00787. PX. 1 hit.
PF00018. SH3_1. 3 hits.
PF07653. SH3_2. 1 hit.
[Graphical view]
SMARTiSM00312. PX. 1 hit.
SM00326. SH3. 4 hits.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 4 hits.
SSF64268. SSF64268. 1 hit.
PROSITEiPS50195. PX. 1 hit.
PS50002. SH3. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSPD2B_HUMAN
AccessioniPrimary (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: November 2, 2016
This is version 90 of the entry and version 3 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

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

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.