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Protein

DCC-interacting protein 13-beta

Gene

APPL2

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

Functioni

Required for the regulation of cell proliferation in response to extracellular signals mediated by an early endosomal compartment. Links Rab5 to nuclear signal transduction.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei234 – 235Breakpoint for chromosomal translocation1 Publication2

GO - Molecular functioni

  • protein-containing complex binding Source: UniProtKB

GO - Biological processi

  • cell cycle Source: UniProtKB-KW
  • cell proliferation Source: UniProtKB
  • signaling Source: GO_Central
  • signal transduction Source: UniProtKB

Keywordsi

Biological processCell cycle

Protein family/group databases

MoonDBiQ8NEU8 Curated

Names & Taxonomyi

Protein namesi
Recommended name:
DCC-interacting protein 13-beta
Short name:
Dip13-beta
Alternative name(s):
Adapter protein containing PH domain, PTB domain and leucine zipper motif 2
Gene namesi
Name:APPL2
Synonyms:DIP13B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000136044.11
HGNCiHGNC:18242 APPL2
MIMi606231 gene
neXtProtiNX_Q8NEU8

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

Endosome, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving APPL2/DIP13B is found in patients with chromosome 22q13.3 deletion syndrome. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2 (PubMed:11431708).1 Publication

Organism-specific databases

DisGeNETi55198
OpenTargetsiENSG00000136044
PharmGKBiPA164741199

Polymorphism and mutation databases

BioMutaiAPPL2
DMDMi160419148

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000799871 – 664DCC-interacting protein 13-betaAdd BLAST664

Proteomic databases

EPDiQ8NEU8
MaxQBiQ8NEU8
PaxDbiQ8NEU8
PeptideAtlasiQ8NEU8
PRIDEiQ8NEU8
ProteomicsDBi73219

PTM databases

iPTMnetiQ8NEU8
PhosphoSitePlusiQ8NEU8

Expressioni

Tissue specificityi

High levels in brain, heart, kidney and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000136044 Expressed in 205 organ(s), highest expression level in corpus callosum
CleanExiHS_APPL2
ExpressionAtlasiQ8NEU8 baseline and differential
GenevisibleiQ8NEU8 HS

Organism-specific databases

HPAiHPA039688
HPA043925

Interactioni

Subunit structurei

Binds RAB5A/Rab5 through an N-terminal domain. This interaction is essential for its recruitment to endosomal membranes as well as its role in cell proliferation. Binds subunits of the NuRD/MeCP1 complex.

Binary interactionsi

Protein-protein interaction databases

BioGridi120495, 35 interactors
IntActiQ8NEU8, 34 interactors
MINTiQ8NEU8
STRINGi9606.ENSP00000258530

Structurei

Secondary structure

1664
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8NEU8
SMRiQ8NEU8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini277 – 375PHPROSITE-ProRule annotationAdd BLAST99
Domaini488 – 637PIDPROSITE-ProRule annotationAdd BLAST150

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 428Required for RAB5A bindingBy similarityAdd BLAST428

Phylogenomic databases

eggNOGiKOG0521 Eukaryota
KOG3536 Eukaryota
ENOG410ZISK LUCA
GeneTreeiENSGT00710000106752
HOGENOMiHOG000285988
HOVERGENiHBG051394
InParanoidiQ8NEU8
KOiK20132
OMAiKRVAMME
OrthoDBiEOG091G08AV
PhylomeDBiQ8NEU8
TreeFamiTF328669

Family and domain databases

Gene3Di1.20.1270.60, 1 hit
2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR006020 PTB/PI_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00462 PTB, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS01179 PID, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEU8-1) [UniParc]FASTAAdd to basket

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
MPAVDKLLLE EALQDSPQTR SLLSVFEEDA GTLTDYTNQL LQAMQRVYGA
60 70 80 90 100
QNEMCLATQQ LSKQLLAYEK QNFALGKGDE EVISTLHYFS KVVDELNLLH
110 120 130 140 150
TELAKQLADT MVLPIIQFRE KDLTEVSTLK DLFGLASNEH DLSMAKYSRL
160 170 180 190 200
PKKKENEKVK TEVGKEVAAA RRKQHLSSLQ YYCALNALQY RKQMAMMEPM
210 220 230 240 250
IGFAHGQINF FKKGAEMFSK RMDSFLSSVA DMVQSIQVEL EAEAEKMRVS
260 270 280 290 300
QQELLSVDES VYTPDSDVAA PQINRNLIQK AGYLNLRNKT GLVTTTWERL
310 320 330 340 350
YFFTQGGNLM CQPRGAVAGG LIQDLDNCSV MAVDCEDRRY CFQITTPNGK
360 370 380 390 400
SGIILQAESR KENEEWICAI NNISRQIYLT DNPEAVAIKL NQTALQAVTP
410 420 430 440 450
ITSFGKKQES SCPSQNLKNS EMENENDKIV PKATASLPEA EELIAPGTPI
460 470 480 490 500
QFDIVLPATE FLDQNRGSRR TNPFGETEDE SFPEAEDSLL QQMFIVRFLG
510 520 530 540 550
SMAVKTDSTT EVIYEAMRQV LAARAIHNIF RMTESHLMVT SQSLRLIDPQ
560 570 580 590 600
TQVSRANFEL TSVTQFAAHQ ENKRLVGFVI RVPESTGEES LSTYIFESNS
610 620 630 640 650
EGEKICYAIN LGKEIIEVQK DPEALAQLML SIPLTNDGKY VLLNDQPDDD
660
DGNPNEHRGA ESEA
Length:664
Mass (Da):74,493
Last modified:October 23, 2007 - v3
Checksum:i359404B1CBA813DB
GO
Isoform 2 (identifier: Q8NEU8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: Missing.

Note: No experimental confirmation available.
Show »
Length:621
Mass (Da):69,746
Checksum:i17C12D12E6225086
GO
Isoform 3 (identifier: Q8NEU8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     138-138: N → NDVCLFL

Note: No experimental confirmation available.
Show »
Length:670
Mass (Da):75,184
Checksum:iD805FD692E06644B
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VXB0F8VXB0_HUMAN
DCC-interacting protein 13-beta
APPL2
235Annotation score:
H0YH86H0YH86_HUMAN
DCC-interacting protein 13-beta
APPL2
188Annotation score:
F8W124F8W124_HUMAN
DCC-interacting protein 13-beta
APPL2
61Annotation score:
F8VWV2F8VWV2_HUMAN
DCC-interacting protein 13-beta
APPL2
144Annotation score:
F8VR68F8VR68_HUMAN
DCC-interacting protein 13-beta
APPL2
39Annotation score:
F8VS86F8VS86_HUMAN
DCC-interacting protein 13-beta
APPL2
107Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti295T → A (PubMed:14702039).Curated1
Sequence conflicti448T → A (PubMed:14702039).Curated1
Sequence conflicti528N → S in BAH12496 (PubMed:14702039).Curated1
Sequence conflicti575L → P in BAH12397 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_021505433A → V2 PublicationsCorresponds to variant dbSNP:rs2272495Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0447711 – 43Missing in isoform 2. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_044772138N → NDVCLFL in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY113704 mRNA Translation: AAM55530.1
AK001521 mRNA No translation available.
AK296610 mRNA Translation: BAH12397.1
AK297100 mRNA Translation: BAH12496.1
AC016257 Genomic DNA No translation available.
AC078874 Genomic DNA No translation available.
BC033731 mRNA Translation: AAH33731.1
CCDSiCCDS58275.1 [Q8NEU8-2]
CCDS58276.1 [Q8NEU8-3]
CCDS9101.1 [Q8NEU8-1]
RefSeqiNP_001238833.1, NM_001251904.1 [Q8NEU8-3]
NP_001238834.1, NM_001251905.1 [Q8NEU8-2]
NP_060641.2, NM_018171.3 [Q8NEU8-1]
XP_016875041.1, XM_017019552.1 [Q8NEU8-2]
XP_016875042.1, XM_017019553.1 [Q8NEU8-2]
UniGeneiHs.506603

Genome annotation databases

EnsembliENST00000258530; ENSP00000258530; ENSG00000136044 [Q8NEU8-1]
ENST00000539978; ENSP00000444472; ENSG00000136044 [Q8NEU8-2]
ENST00000551662; ENSP00000446917; ENSG00000136044 [Q8NEU8-3]
GeneIDi55198
KEGGihsa:55198
UCSCiuc001tlf.2 human [Q8NEU8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY113704 mRNA Translation: AAM55530.1
AK001521 mRNA No translation available.
AK296610 mRNA Translation: BAH12397.1
AK297100 mRNA Translation: BAH12496.1
AC016257 Genomic DNA No translation available.
AC078874 Genomic DNA No translation available.
BC033731 mRNA Translation: AAH33731.1
CCDSiCCDS58275.1 [Q8NEU8-2]
CCDS58276.1 [Q8NEU8-3]
CCDS9101.1 [Q8NEU8-1]
RefSeqiNP_001238833.1, NM_001251904.1 [Q8NEU8-3]
NP_001238834.1, NM_001251905.1 [Q8NEU8-2]
NP_060641.2, NM_018171.3 [Q8NEU8-1]
XP_016875041.1, XM_017019552.1 [Q8NEU8-2]
XP_016875042.1, XM_017019553.1 [Q8NEU8-2]
UniGeneiHs.506603

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4H8SX-ray3.50A/B/C/D2-384[»]
5C5BX-ray2.90B/D1-375[»]
ProteinModelPortaliQ8NEU8
SMRiQ8NEU8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120495, 35 interactors
IntActiQ8NEU8, 34 interactors
MINTiQ8NEU8
STRINGi9606.ENSP00000258530

Protein family/group databases

MoonDBiQ8NEU8 Curated

PTM databases

iPTMnetiQ8NEU8
PhosphoSitePlusiQ8NEU8

Polymorphism and mutation databases

BioMutaiAPPL2
DMDMi160419148

Proteomic databases

EPDiQ8NEU8
MaxQBiQ8NEU8
PaxDbiQ8NEU8
PeptideAtlasiQ8NEU8
PRIDEiQ8NEU8
ProteomicsDBi73219

Protocols and materials databases

DNASUi55198
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000258530; ENSP00000258530; ENSG00000136044 [Q8NEU8-1]
ENST00000539978; ENSP00000444472; ENSG00000136044 [Q8NEU8-2]
ENST00000551662; ENSP00000446917; ENSG00000136044 [Q8NEU8-3]
GeneIDi55198
KEGGihsa:55198
UCSCiuc001tlf.2 human [Q8NEU8-1]

Organism-specific databases

CTDi55198
DisGeNETi55198
EuPathDBiHostDB:ENSG00000136044.11
GeneCardsiAPPL2
H-InvDBiHIX0010948
HGNCiHGNC:18242 APPL2
HPAiHPA039688
HPA043925
MIMi606231 gene
neXtProtiNX_Q8NEU8
OpenTargetsiENSG00000136044
PharmGKBiPA164741199
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0521 Eukaryota
KOG3536 Eukaryota
ENOG410ZISK LUCA
GeneTreeiENSGT00710000106752
HOGENOMiHOG000285988
HOVERGENiHBG051394
InParanoidiQ8NEU8
KOiK20132
OMAiKRVAMME
OrthoDBiEOG091G08AV
PhylomeDBiQ8NEU8
TreeFamiTF328669

Miscellaneous databases

ChiTaRSiAPPL2 human
GeneWikiiAPPL2
GenomeRNAii55198
PROiPR:Q8NEU8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000136044 Expressed in 205 organ(s), highest expression level in corpus callosum
CleanExiHS_APPL2
ExpressionAtlasiQ8NEU8 baseline and differential
GenevisibleiQ8NEU8 HS

Family and domain databases

Gene3Di1.20.1270.60, 1 hit
2.30.29.30, 2 hits
InterProiView protein in InterPro
IPR027267 AH/BAR_dom_sf
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR006020 PTB/PI_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF00640 PID, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00462 PTB, 1 hit
SUPFAMiSSF103657 SSF103657, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS01179 PID, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDP13B_HUMAN
AccessioniPrimary (citable) accession number: Q8NEU8
Secondary accession number(s): B7Z411
, B7Z4B0, F5GZG0, F8W1P5, Q8N4R7, Q9NVL2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: October 23, 2007
Last modified: November 7, 2018
This is version 148 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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