Reviewed, UniProtKB/Swiss-Prot Q8NEU8 (DP13B_HUMAN)

Names and origin

Protein names

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 names

Name:	APPL2
Synonyms:	DIP13B

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	664 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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. Ref.5 UniProtKB Q9UKG1
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. Ref.5 UniProtKB Q9UKG1
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. Ref.5
Tissue specificity	High levels in brain, heart, kidney and skeletal muscle. Ref.4
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.

Ontologies

Keywords
Biological process	Cell cycle
Cellular component	Endosome Membrane Nucleus
Coding sequence diversity	Chromosomal rearrangement Polymorphism
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	cell cycle Inferred from electronic annotation. Source: UniProtKB-KW cell proliferation Ref.5 Inferred from direct assay. Source: UniProtKB signal transduction Ref.5 Traceable author statement. Source: UniProtKB
Cellular component	endosome membrane Ref.5 Inferred from direct assay. Source: UniProtKB extrinsic to membrane Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Ref.5 Inferred from direct assay. Source: UniProtKB
Molecular function	protein binding Ref.5 Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 664	664	DCC-interacting protein 13-beta		PRO_0000079987
Regions
	Domain	277 – 375	99	PH
	Domain	488 – 637	150	PID
	Region	1 – 428	428	Required for RAB5A binding By similarity UniProtKB Q9UKG1
Sites
	Site	234 – 235	2	Breakpoint for chromosomal translocation Ref.4
Natural variations
	Natural variant	433	1	A → V: dbSNP rs2272495. Ref.3		VAR_021505
Experimental info
	Sequence conflict	295	1	T → A Ref.2
	Sequence conflict	448	1	T → A Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q8NEU8-1 [UniParc]. Last modified October 23, 2007. Version 3. Checksum: 359404B1CBA813DB	FASTA	664	74,493
	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

References

	« Hide 'large scale' referencesShow '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. , 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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AY113704 mRNA. Translation: AAM55530.1. AK001521 mRNA. No translation available. BC033731 mRNA. Translation: AAH33731.1.
IPI	IPI00172513.
RefSeq	NP_060641.2.
UniGene	Hs.506603
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8NEU8. 5 interactions.
STRING	Q8NEU8.
PTM databases
PhosphoSite	Q8NEU8.
Proteomic databases
PRIDE	Q8NEU8.
Genome annotation databases
Ensembl	ENST00000258530; ENSP00000258530; ENSG00000136044; Homo sapiens. [Genome view]
GeneID	55198.
KEGG	hsa:55198.
UCSC	uc001tlf.1. human.
Organism-specific databases
CTD	55198.
GeneCards	GC12M104091.
H-InvDB	HIX0010948.
HGNC	HGNC:18242. APPL2.
MIM	606231. gene. 606232. phenotype.
Orphanet	48652. Monosomy 22q13.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q8NEU8.
InParanoid	Q8NEU8.
OMA	GLVTTTW.
OrthoDB	EOG9R7XW6.
Gene expression databases
ArrayExpress	Q8NEU8.
Bgee	Q8NEU8.
CleanEx	HS_APPL2.
Genevestigator	Q8NEU8.
GermOnline	ENSG00000136044. Homo sapiens.
Family and domain databases
InterPro	IPR011993. PH_type. IPR001849. Pleckstrin_homology. IPR006020. PTB_PID. [Graphical view]
Gene3D	G3DSA:2.30.29.30. PH_type. 2 hits.
Pfam	PF00169. PH. 1 hit. PF00640. PID. 1 hit. [Graphical view]
SMART	SM00233. PH. 1 hit. [Graphical view]
PROSITE	PS50003. PH_DOMAIN. 1 hit. PS01179. PID. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	59074.
SOURCE	Search...

Entry information

Entry name

DP13B_HUMAN

Accession

Primary (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:	December 15, 2009
This is version 67 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.