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Q06481 (APLP2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 154. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Amyloid-like protein 2

Short name=APLP-2
Alternative name(s):
APPH
Amyloid protein homolog
CDEI box-binding protein
Short name=CDEBP
Gene names
Name:APLP2
Synonyms:APPL2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length763 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May play a role in the regulation of hemostasis. The soluble form may have inhibitory properties towards coagulation factors. May interact with cellular G-protein signaling pathways. May bind to the DNA 5'-GTCACATG-3'(CDEI box). Inhibits trypsin, chymotrypsin, plasmin, factor XIA and plasma and glandular kallikrein. Modulates the Cu/Zn nitric oxide-catalyzed autodegradation of GPC1 heparan sulfate side chains in fibroblasts By similarity. Ref.9

Subunit structure

Interacts with CPEB1. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif By similarity.

Subcellular location

Cell membrane; Single-pass type I membrane protein Potential. Nucleus Potential.

Tissue specificity

Expressed in placenta, brain, heart, lung, liver, kidney and endothelial tissues.

Post-translational modification

The BPTI/Kunitz inhibitor domain is O-glycosylated. Ref.9

Sequence similarities

Belongs to the APP family.

Contains 1 BPTI/Kunitz inhibitor domain.

Sequence caution

The sequence BAG54641.1 differs from that shown. Reason: Frameshift at position 81.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal
Transmembrane
Transmembrane helix
   LigandDNA-binding
   Molecular functionProtease inhibitor
Serine protease inhibitor
   PTMDisulfide bond
Glycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processG-protein coupled receptor signaling pathway

Non-traceable author statement Ref.2. Source: UniProtKB

cellular copper ion homeostasis

Inferred from electronic annotation. Source: Ensembl

cholesterol metabolic process

Inferred from electronic annotation. Source: Ensembl

embryo development

Inferred from electronic annotation. Source: Ensembl

extracellular matrix organization

Inferred from electronic annotation. Source: Ensembl

forebrain development

Inferred from electronic annotation. Source: Ensembl

locomotory behavior

Inferred from electronic annotation. Source: Ensembl

mating behavior

Inferred from electronic annotation. Source: Ensembl

midbrain development

Inferred from electronic annotation. Source: Ensembl

neuromuscular process controlling balance

Inferred from electronic annotation. Source: Ensembl

regulation of epidermal growth factor-activated receptor activity

Inferred from electronic annotation. Source: Ensembl

regulation of protein binding

Inferred from electronic annotation. Source: Ensembl

suckling behavior

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentextracellular vesicular exosome

Inferred from direct assay PubMed 19199708. Source: UniProt

integral component of membrane

Non-traceable author statement Ref.1. Source: UniProtKB

nucleus

Inferred from direct assay Ref.3. Source: UniProtKB

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionDNA binding

Non-traceable author statement Ref.3. Source: UniProtKB

heparin binding

Inferred from electronic annotation. Source: InterPro

identical protein binding

Inferred from physical interaction PubMed 16193067. Source: IntAct

protein binding

Inferred from physical interaction PubMed 8855266. Source: UniProtKB

serine-type endopeptidase inhibitor activity

Inferred from electronic annotation. Source: UniProtKB-KW

transition metal ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: Q06481-1)

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.
Isoform 2 (identifier: Q06481-2)

The sequence of this isoform differs from the canonical sequence as follows:
     308-363: Missing.
Isoform 3 (identifier: Q06481-3)

The sequence of this isoform differs from the canonical sequence as follows:
     613-624: Missing.
Isoform 4 (identifier: Q06481-4)

The sequence of this isoform differs from the canonical sequence as follows:
     308-363: Missing.
     364-364: I → V
     613-624: Missing.
Isoform 5 (identifier: Q06481-5)

The sequence of this isoform differs from the canonical sequence as follows:
     136-364: Missing.
     613-624: Missing.
Note: No experimental confirmation available.
Isoform 6 (identifier: Q06481-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: MAATGTAAAAATGRLLLLLLVGLTAPALALAGYIE → MLRAPGELPR...ASVDRGNPLW
     613-624: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 3131 Potential
Chain32 – 763732Amyloid-like protein 2
PRO_0000000207

Regions

Topological domain32 – 692661Extracellular Potential
Transmembrane693 – 71624Helical; Potential
Topological domain717 – 76347Cytoplasmic Potential
Domain306 – 36459BPTI/Kunitz inhibitor
Region749 – 76315Interaction with DAB2 By similarity
Motif750 – 7556NPXY motif
Compositional bias215 – 28066Asp/Glu-rich (highly acidic)
Compositional bias215 – 23117Poly-Glu

Sites

Site320 – 3212Reactive bond By similarity

Amino acid modifications

Disulfide bond310 ↔ 360 By similarity
Disulfide bond319 ↔ 343 By similarity
Disulfide bond335 ↔ 356 By similarity

Natural variations

Alternative sequence1 – 3535MAATG…AGYIE → MLRAPGELPRQAARCSLCRL GPGRGRAFFKWRCLPASVDR GNPLW in isoform 6.
VSP_046881
Alternative sequence136 – 364229Missing in isoform 5.
VSP_030921
Alternative sequence308 – 36356Missing in isoform 2 and isoform 4.
VSP_000018
Alternative sequence3641I → V in isoform 4.
VSP_046882
Alternative sequence613 – 62412Missing in isoform 3, isoform 4, isoform 5 and isoform 6.
VSP_000019
Natural variant6321D → N.
Corresponds to variant rs3740881 [ dbSNP | Ensembl ].
VAR_022039

Experimental info

Sequence conflict2241E → D in AAD47291. Ref.5
Sequence conflict226 – 2272Missing in BAG54641. Ref.4
Sequence conflict5431S → I in AAA35526. Ref.1
Sequence conflict5431S → T in AAH04371. Ref.8

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 1, 1996. Version 2.
Checksum: CA3A7D6DDB8A28D0

FASTA76386,956
        10         20         30         40         50         60 
MAATGTAAAA ATGRLLLLLL VGLTAPALAL AGYIEALAAN AGTGFAVAEP QIAMFCGKLN 

        70         80         90        100        110        120 
MHVNIQTGKW EPDPTGTKSC FETKEEVLQY CQEMYPELQI TNVMEANQRV SIDNWCRRDK 

       130        140        150        160        170        180 
KQCKSRFVTP FKCLVGEFVS DVLLVPEKCQ FFHKERMEVC ENHQHWHTVV KEACLTQGMT 

       190        200        210        220        230        240 
LYSYGMLLPC GVDQFHGTEY VCCPQTKIIG SVSKEEEEED EEEEEEEDEE EDYDVYKSEF 

       250        260        270        280        290        300 
PTEADLEDFT EAAVDEDDED EEEGEEVVED RDYYYDTFKG DDYNEENPTE PGSDGTMSDK 

       310        320        330        340        350        360 
EITHDVKAVC SQEAMTGPCR AVMPRWYFDL SKGKCVRFIY GGCGGNRNNF ESEDYCMAVC 

       370        380        390        400        410        420 
KAMIPPTPLP TNDVDVYFET SADDNEHARF QKAKEQLEIR HRNRMDRVKK EWEEAELQAK 

       430        440        450        460        470        480 
NLPKAERQTL IQHFQAMVKA LEKEAASEKQ QLVETHLARV EAMLNDRRRM ALENYLAALQ 

       490        500        510        520        530        540 
SDPPRPHRIL QALRRYVRAE NKDRLHTIRH YQHVLAVDPE KAAQMKSQVM THLHVIEERR 

       550        560        570        580        590        600 
NQSLSLLYKV PYVAQEIQEE IDELLQEQRA DMDQFTASIS ETPVDVRVSS EESEEIPPFH 

       610        620        630        640        650        660 
PFHPFPALPE NEDTQPELYH PMKKGSGVGE QDGGLIGAEE KVINSKNKVD ENMVIDETLD 

       670        680        690        700        710        720 
VKEMIFNAER VGGLEEERES VGPLREDFSL SSSALIGLLV IAVAIATVIV ISLVMLRKRQ 

       730        740        750        760 
YGTISHGIVE VDPMLTPEER HLNKMQNHGY ENPTYKYLEQ MQI 

« Hide

Isoform 2 [UniParc].

Checksum: 1F45B94DAE88BC23
Show »

FASTA70780,721
Isoform 3 [UniParc].

Checksum: 788BCDC6E4487E18
Show »

FASTA75185,487
Isoform 4 [UniParc].

Checksum: 728CA8ACBB7594FB
Show »

FASTA69579,238
Isoform 5 [UniParc].

Checksum: 993641BFC15ED6E0
Show »

FASTA52259,151
Isoform 6 [UniParc].

Checksum: E87786F52F076C41
Show »

FASTA76187,215

References

« Hide 'large scale' references
[1]"Molecular cloning of the cDNA for a human amyloid precursor protein homolog: evidence for a multigene family."
Sprecher C.A., Grant F.J., Grimm G., O'Hara P.J., Norris F., Norris K., Foster D.C.
Biochemistry 32:4481-4486(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Placenta.
[2]"Isolation and characterization of APLP2 encoding a homologue of the Alzheimer's associated amyloid beta protein precursor."
Wasco W., Gurubhagavatula S., Paradis M., Romano D.M., Sisodia S.S., Hyman B.T., Neve R.L., Tanzi R.E.
Nat. Genet. 5:95-99(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"A human amyloid precursor-like protein is highly homologous to a mouse sequence-specific DNA-binding protein."
von der Kammer H., Hanes J., Klaudiny J., Scheit K.H.
DNA Cell Biol. 13:1137-1143(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Ovary.
[4]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Testis.
[5]"Cloning of a protein that binds to a recognition sequence in the APP promoter."
Vostrov A.A., Quitschke W.W., Schwarzman A.L., Blangy A., Cuzin F., Wesley U.V., Hagag N.G., Goldgaber D.
Submitted (AUG-1993) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 39-763 (ISOFORM 2), NUCLEOTIDE SEQUENCE [MRNA] OF 229-763 (ISOFORM 3), NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
Tissue: Brain.
[6]"A new special gene in human testis (HSD-2)."
Wang L., Miao S., Fan H., Wang H.
Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Testis.
[7]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 5).
Tissue: Lung and Pancreas.
[9]"Expression, purification and characterization of a Kunitz-type protease inhibitor domain from human amyloid precursor protein homolog."
Petersen L.C., Bjorn S.E., Norris F., Norris K., Sprecher C., Foster D.C.
FEBS Lett. 338:53-57(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 305-362 (ISOFORMS 1/3), FUNCTION, GLYCOSYLATION.
[10]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
S60099 mRNA. Translation: AAC60589.1.
L09209 mRNA. Translation: AAA35526.1.
L27631 mRNA. Translation: AAC41701.1.
Z22572 mRNA. Translation: CAA80295.1.
AK128162 mRNA. Translation: BAG54641.1. Frameshift.
L19597 mRNA. Translation: AAA35601.1.
L23113 mRNA. Translation: AAA36032.1.
L23114 mRNA. Translation: AAA36130.1.
AF168956 mRNA. Translation: AAD47291.1.
AP001183 Genomic DNA. No translation available.
AP003041 Genomic DNA. No translation available.
BC000373 mRNA. Translation: AAH00373.1.
BC004371 mRNA. Translation: AAH04371.1.
CCDSCCDS44773.1. [Q06481-3]
CCDS44774.1. [Q06481-4]
CCDS44775.1. [Q06481-5]
CCDS58196.1. [Q06481-6]
CCDS8486.1. [Q06481-1]
PIRA49321.
S41082.
RefSeqNP_001135748.1. NM_001142276.1. [Q06481-3]
NP_001135749.1. NM_001142277.1. [Q06481-4]
NP_001135750.1. NM_001142278.1. [Q06481-5]
NP_001230228.1. NM_001243299.1. [Q06481-6]
NP_001633.1. NM_001642.2. [Q06481-1]
UniGeneHs.370247.

3D structure databases

ProteinModelPortalQ06481.
SMRQ06481. Positions 47-204, 309-566, 735-761.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid106831. 23 interactions.
DIPDIP-31047N.
IntActQ06481. 20 interactions.
MINTMINT-1186713.
STRING9606.ENSP00000263574.

Protein family/group databases

MEROPSI02.016.

PTM databases

PhosphoSiteQ06481.

Polymorphism databases

DMDM1703344.

Proteomic databases

MaxQBQ06481.
PaxDbQ06481.
PRIDEQ06481.

Protocols and materials databases

DNASU334.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000263574; ENSP00000263574; ENSG00000084234. [Q06481-1]
ENST00000278756; ENSP00000278756; ENSG00000084234. [Q06481-6]
ENST00000338167; ENSP00000345444; ENSG00000084234. [Q06481-3]
ENST00000345598; ENSP00000263575; ENSG00000084234. [Q06481-5]
ENST00000528499; ENSP00000435914; ENSG00000084234. [Q06481-4]
GeneID334.
KEGGhsa:334.
UCSCuc001qfp.3. human. [Q06481-3]
uc001qfs.3. human. [Q06481-5]
uc001qfv.3. human. [Q06481-2]
uc010sby.2. human. [Q06481-1]

Organism-specific databases

CTD334.
GeneCardsGC11P129939.
HGNCHGNC:598. APLP2.
HPAHPA039319.
MIM104776. gene.
neXtProtNX_Q06481.
PharmGKBPA24885.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG289770.
HOVERGENHBG000051.
InParanoidQ06481.
KOK08117.
OMARMEVCEN.
OrthoDBEOG7RNJZP.
PhylomeDBQ06481.
TreeFamTF317274.

Enzyme and pathway databases

SignaLinkQ06481.

Gene expression databases

ArrayExpressQ06481.
BgeeQ06481.
CleanExHS_APLP2.
HS_APPL2.
GenevestigatorQ06481.

Family and domain databases

Gene3D3.30.1490.140. 1 hit.
3.90.570.10. 1 hit.
4.10.410.10. 1 hit.
InterProIPR008155. Amyloid_glyco.
IPR011178. Amyloid_glyco_Cu-bd.
IPR024329. Amyloid_glyco_E2_domain.
IPR008154. Amyloid_glyco_extra.
IPR019744. Amyloid_glyco_extracell_CS.
IPR015849. Amyloid_glyco_heparin-bd.
IPR019745. Amyloid_glyco_intracell_CS.
IPR019543. APP_amyloid_C.
IPR002223. Prot_inh_Kunz-m.
IPR020901. Prtase_inh_Kunz-CS.
[Graphical view]
PfamPF10515. APP_amyloid. 1 hit.
PF12924. APP_Cu_bd. 1 hit.
PF12925. APP_E2. 1 hit.
PF02177. APP_N. 1 hit.
PF00014. Kunitz_BPTI. 1 hit.
[Graphical view]
PRINTSPR00203. AMYLOIDA4.
PR00759. BASICPTASE.
SMARTSM00006. A4_EXTRA. 1 hit.
SM00131. KU. 1 hit.
[Graphical view]
SUPFAMSSF109843. SSF109843. 1 hit.
SSF56491. SSF56491. 1 hit.
SSF57362. SSF57362. 1 hit.
SSF89811. SSF89811. 1 hit.
PROSITEPS00319. A4_EXTRA. 1 hit.
PS00320. A4_INTRA. 1 hit.
PS00280. BPTI_KUNITZ_1. 1 hit.
PS50279. BPTI_KUNITZ_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSAPLP2. human.
GeneWikiAPLP2.
GenomeRNAi334.
NextBio1383.
PMAP-CutDBQ06481.
PROQ06481.
SOURCESearch...

Entry information

Entry nameAPLP2_HUMAN
AccessionPrimary (citable) accession number: Q06481
Secondary accession number(s): B3KXX9 expand/collapse secondary AC list , H7BXI4, Q13861, Q14594, Q14662, Q71U10, Q7M4L3, Q9BT36
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: October 1, 1996
Last modified: July 9, 2014
This is version 154 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM