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Reviewed, UniProtKB/Swiss-Prot Q8NEU8 (DP13B_HUMAN)

Last modified July 22, 2008. Version 51. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    DCC-interacting protein 13-beta
      Short name(s)=Dip13-beta
Alternative name(s):
    Adapter protein containing PH domain, PTB domain and leucine zipper motif 2
Gene names
Name: APPL2
Synonyms: DIP13B
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length664 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Function

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

Subunit structure

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.

Subcellular location

Early endosome membrane; Peripheral membrane protein. Nucleus. Note= Early endosomal membrane-bound and nuclear. Translocated into the nucleus upon release from endosomal membranes following internalization of EGF.

Tissue specificity

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

Involvement in disease

A chromosomal aberration involving APPL2/DIP13B is a cause of the chromosome 22q13.3 deletion syndrome [MIM:606232]. Translocation t(12;22)(q24.1;q13.3) with SHANK3/PSAP2.

Sequence similarities

Contains 1 PH domain.

Contains 1 PID domain.

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Ontologies

Keywords

   Biological processCell cycle
   Cellular componentEndosome
Membrane
Nucleus
   Coding sequence diversityChromosomal rearrangement
Polymorphism

Gene Ontology (GO)

   Biological processcell proliferation Ref.5

Inferred from direct assay. Source: UniProtKB

signal transduction Ref.5

Traceable author statement. Source: UniProtKB

   Cellular componentendosome membrane Ref.5

Inferred from direct assay. Source: UniProtKB

nucleus Ref.5

Inferred from direct assay. Source: UniProtKB

   Molecular functionprotein binding Ref.5

Inferred from physical interaction. Source: UniProtKB

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical view

Molecule processing

Chain1 – 664664DCC-interacting protein 13-beta

Regions

Domain277 – 37599PH
Domain488 – 637150PID
Region1 – 428428Required for RAB5A binding By similarity

Sites

Site234 – 2352Breakpoint for chromosomal translocation

Natural variations

Natural variant4331A → V: dbSNP rs2272495.

Experimental info

Sequence conflict2951T → A Ref.2
Sequence conflict4481T → A Ref.2

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Sequences

Sequence LengthMass (Da)Tools
Q8NEU8-1 [UniParc].

Last modified October 23, 2007. Version 3.
Checksum: 359404B1CBA813DB

FASTA66474,493
        10         20         30         40         50         60 
MPAVDKLLLE EALQDSPQTR SLLSVFEEDA GTLTDYTNQL LQAMQRVYGA QNEMCLATQQ 

        70         80         90        100        110        120 
LSKQLLAYEK QNFALGKGDE EVISTLHYFS KVVDELNLLH TELAKQLADT MVLPIIQFRE 

       130        140        150        160        170        180 
KDLTEVSTLK DLFGLASNEH DLSMAKYSRL PKKKENEKVK TEVGKEVAAA RRKQHLSSLQ 

       190        200        210        220        230        240 
YYCALNALQY RKQMAMMEPM IGFAHGQINF FKKGAEMFSK RMDSFLSSVA DMVQSIQVEL 

       250        260        270        280        290        300 
EAEAEKMRVS QQELLSVDES VYTPDSDVAA PQINRNLIQK AGYLNLRNKT GLVTTTWERL 

       310        320        330        340        350        360 
YFFTQGGNLM CQPRGAVAGG LIQDLDNCSV MAVDCEDRRY CFQITTPNGK SGIILQAESR 

       370        380        390        400        410        420 
KENEEWICAI NNISRQIYLT DNPEAVAIKL NQTALQAVTP ITSFGKKQES SCPSQNLKNS 

       430        440        450        460        470        480 
EMENENDKIV PKATASLPEA EELIAPGTPI QFDIVLPATE FLDQNRGSRR TNPFGETEDE 

       490        500        510        520        530        540 
SFPEAEDSLL QQMFIVRFLG SMAVKTDSTT EVIYEAMRQV LAARAIHNIF RMTESHLMVT 

       550        560        570        580        590        600 
SQSLRLIDPQ TQVSRANFEL TSVTQFAAHQ ENKRLVGFVI RVPESTGEES LSTYIFESNS 

       610        620        630        640        650        660 
EGEKICYAIN LGKEIIEVQK DPEALAQLML SIPLTNDGKY VLLNDQPDDD DGNPNEHRGA 


ESEA

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References

« Hide 'large scale' references
[1]"Identification of DIP13 beta, a novel protein related to the DCC-interacting protein 13 alpha (DIP13alpha)."
Chen Y.Q.
Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Teratocarcinoma.
[3]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT VAL-433.
Tissue: Brain.
[4]"Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome."
Bonaglia M.C., Giorda R., Borgatti R., Felisari G., Gagliardi C., Selicorni A., Zuffardi O.
Am. J. Hum. Genet. 69:261-268(2001) [PubMed: 11431708] [Abstract]
Cited for: CHROMOSOMAL TRANSLOCATION WITH SHANK3, TISSUE SPECIFICITY.
[5]"APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment."
Miaczynska M., Christoforidis S., Giner A., Shevchenko A., Uttenweiler-Joseph S., Habermann B., Wilm M., Parton R.G., Zerial M.
Cell 116:445-456(2004) [PubMed: 15016378] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH RAB5A AND NURD/MECP1 COMPLEX, IDENTIFICATION BY MASS SPECTROMETRY.

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Cross-references

Sequence databases

AY113704 mRNA. Translation: AAM55530.1.
AK001521 mRNA. No translation available.
BC033731 mRNA. Translation: AAH33731.1.
RefSeqNP_060641.2.
UniGeneHs.506603

3D structure databases

ModBaseSearch...

PTM databases

PhosphoSiteQ8NEU8.

Genome annotation databases

EnsemblENSG00000136044. Homo sapiens. [Contig view]
GeneID55198.
KEGGhsa:55198.

Organism-specific databases

H-InvDBHIX0010948.
HGNCHGNC:18242. APPL2.
MIM606231. gene.
606232. phenotype.
Orphanet48652. Monosomy 22q13.
GenAtlasSearch...
GeneCardsSearch...
GeneLynxSearch...

Phylogenomic databases

HOGENOMQ8NEU8.
HOVERGENQ8NEU8.

Gene expression databases

ArrayExpressQ8NEU8.
CleanExHS_APPL2.
GermOnlineENSG00000136044. Homo sapiens.

Family and domain databases

InterProIPR001849. PH.
IPR011993. PH_type.
IPR006020. PTB_PID.
[Graphical view]
Gene3DG3DSA:2.30.29.30. PH_type. 2 hits.
PfamPF00169. PH. 1 hit.
PF00640. PID. 1 hit.
[Graphical view]
SMARTSM00233. PH. 1 hit.
[Graphical view]
PROSITEPS50003. PH_DOMAIN. 1 hit.
PS01179. PID. 1 hit.
[Graphical view]
ProDomQ8NEU8.
[Graphical view] [Entries sharing at least one domain]
BLOCKSSearch...

Other Resources

SOURCESearch...
ProtoNetSearch...

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Entry information

Entry nameDP13B_HUMAN
AccessionPrimary (citable) accession number: Q8NEU8
Secondary accession number(s): Q8N4R7, Q9NVL2
Entry history
Integrated into UniProtKB/Swiss-Prot: March 15, 2005
Last sequence update: October 23, 2007
Last modified: July 22, 2008
This is version 51 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

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

UniProtKB secondary accession numbers

Index of UniProtKB secondary accession numbers

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents