Reviewed, UniProtKB/Swiss-Prot O96018 (APBA3_HUMAN)

Names and origin

Protein names

Recommended name:
    Amyloid beta A4 precursor protein-binding family A member 3
Alternative name(s):
    Neuron-specific X11L2 protein
    Neuronal Munc18-1-interacting protein 3
      Short name=Mint-3
    Adapter protein X11gamma

Gene names

Name:	APBA3
Synonyms:	MINT3, X11L2

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

General annotation (Comments)

Function	May modulate processing of the beta-amyloid precursor protein (APP) and hence formation of beta-APP.
Subunit structure	Binds to the cytoplasmic domain of amyloid protein (APP) in vivo.
Tissue specificity	Expressed in all the tissues examined with lower levels in brain and testis.
Domain	Composed of an N-terminal domain, a middle phosphotyrosine-binding domain (PID/PTB) that mediates binding with the cytoplasmic domain of the beta-amyloid precursor protein, and two C-terminal PDZ domains thought to attach proteins to the plasma membrane.
Sequence similarities	Contains 2 PDZ (DHR) domains. Contains 1 PID domain.

Ontologies

Keywords
Biological process	Protein transport Transport
Coding sequence diversity	Polymorphism
Domain	Repeat
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	intracellular signaling cascade Non-traceable author statement. Source: UniProtKB protein transport Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	membrane Non-traceable author statement. Source: UniProtKB
Molecular function	protein binding Ref.1 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 – 575

575

Amyloid beta A4 precursor protein-binding family A member 3

PRO_0000064620

Regions

Domain

217 – 381

165

PID

Domain

394 – 480

87

PDZ 1

Domain

485 – 560

76

PDZ 2

Compositional bias

165 – 171

7

Poly-Ser

Amino acid modifications

Modified residue

9

1

Phosphoserine Ref.5

Modified residue

372

1

Phosphoserine Ref.5 Ref.6

Natural variations

Natural variant

154

1

W → L: dbSNP rs35932323.

VAR_050666

Natural variant

276

1

K → T: dbSNP rs3746119.

VAR_020134

Natural variant

376

1

C → R: dbSNP rs8102086.

VAR_047952

Natural variant

527

1

I → F: dbSNP rs1045236.

VAR_011822

Experimental info

Sequence conflict

505

1

I → IVRPRPLAPGWGGRAALSTA PEQPPPLSRAPLFLPQ in AAC17979. Ref.4

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

575

Helix Strand Turn

Details...

Beta strand

393 – 398

6

Beta strand

407 – 411

5

Beta strand

415 – 418

4

Beta strand

421 – 426

6

Helix

433 – 435

3

Beta strand

443 – 449

7

Helix

457 – 466

10

Turn

467 – 469

3

Beta strand

470 – 477

8

Sequences

	Sequence		Length	Mass (Da)
	O96018-1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 3B910CC74C5F3840	FASTA	575	61,454
	10 20 30 40 50 60 MDFPTISRSP SGPPAMDLEG PRDILVPSED LTPDSQWDPM PGGPGSLSRM ELDESSLQEL 70 80 90 100 110 120 VQQFEALPGD LVGPSPGGAP CPLHIATGHG LASQEIADAH GLLSAEAGRD DLLGLLHCEE 130 140 150 160 170 180 CPPSQTGPEE PLEPAPRLLQ PPEDPDEDSD SPEWVEGASA EQEGSRSSSS SPEPWLETVP 190 200 210 220 230 240 LVTPEEPPAG AQSPETLASY PAPQEVPGPC DHEDLLDGVI FGARYLGSTQ LVSERNPPTS 250 260 270 280 290 300 TRMAQAREAM DRVKAPDGET QPMTEVDLFV STKRIKVLTA DSQEAMMDHA LHTISYTADI 310 320 330 340 350 360 GCVLVLMARR RLARRPAPQD HGRRLYKMLC HVFYAEDAQL IAQAIGQAFA AAYSQFLRES 370 380 390 400 410 420 GIDPSQVGVH PSPGACHLHN GDLDHFSNSD NCREVHLEKR RGEGLGVALV ESGWGSLLPT 430 440 450 460 470 480 AVIANLLHGG PAERSGALSI GDRLTAINGT SLVGLPLAAC QAAVRETKSQ TSVTLSIVHC 490 500 510 520 530 540 PPVTTAIIHR PHAREQLGFC VEDGIICSLL RGGIAERGGI RVGHRIIEIN GQSVVATPHA 550 560 570 RIIELLTEAY GEVHIKTMPA ATYRLLTGQE QPVYL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"X11L2, a new member of X11 protein family interacts with Alzheimer's beta-amyloid precursor protein." Tanahashi H., Tabira T. Biochem. Biophys. Res. Commun. 255:663-667(1999) [PubMed: 10049767] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Brain.
[2]	"The DNA sequence and biology of human chromosome 19." Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M. Nature 428:529-535(2004) [PubMed: 15057824] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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]. Tissue: Lung.
[4]	"Mint 3: a ubiquitous mint isoform that does not bind to munc18-1 or -2." Okamoto M., Suedhof T.C. Eur. J. Cell Biol. 77:161-165(1998) [PubMed: 9860131] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 472-575.
[5]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-9 AND SER-372, MASS SPECTROMETRY.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-372, MASS SPECTROMETRY.
[7]	"Solution structure of the PDZ domain of amyloid beta A4 precursor protein-binding family A member 3." RIKEN structural genomics initiative (RSGI) Submitted (APR-2008) to the PDB data bank Cited for: STRUCTURE BY NMR OF 387-569.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AB021638 mRNA. Translation: BAA74430.1.
AC005954 Genomic DNA. Translation: AAC72275.1.
BC086306 mRNA. Translation: AAH86306.1.
AF029110 mRNA. Translation: AAC17979.1.

IPI

IPI00014073.

PIR

JG0181.

RefSeq

NP_004877.1.

UniGene

Hs.25527
Hs.465607

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2YT7	NMR	-	A	390-483	[»]
2YT8	NMR	-	A	483-569	[»]

ModBase

Search...

Protein-protein interaction databases

STRING

O96018.

PTM databases

PhosphoSite

O96018.

Proteomic databases

PRIDE

O96018.

Genome annotation databases

Ensembl

ENST00000316757; ENSP00000315136; ENSG00000011132; Homo sapiens. [Genome view]

GeneID

9546.

KEGG

hsa:9546.

UCSC

uc002lyp.1. human.

Organism-specific databases

CTD

9546.

GeneCards

GC19M003701.

H-InvDB

HIX0039924.

HGNC

HGNC:580. APBA3.

MIM

604262. gene.

PharmGKB

PA24872.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

O96018.

HOVERGEN

O96018.

OMA

GAPCPLH

OrthoDB

EOG96HJW0

Gene expression databases

Bgee

O96018.

CleanEx

HS_APBA3.

Genevestigator

O96018.

GermOnline

ENSG00000011132. Homo sapiens.

Family and domain databases

InterPro

IPR001478. PDZ/DHR/GLGF.
IPR011993. PH_type.
IPR006020. PTB_PID.
[Graphical view]

Gene3D

G3DSA:2.30.29.30. PH_type. 1 hit.

Pfam

PF00595. PDZ. 2 hits.
PF00640. PID. 1 hit.
[Graphical view]

SMART

SM00228. PDZ. 2 hits.
SM00462. PTB. 1 hit.
[Graphical view]

PROSITE

PS50106. PDZ. 2 hits.
PS01179. PID. 1 hit.
[Graphical view]

ProtoNet

Search...

Other Resources

NextBio

35799.

SOURCE

Search...

Entry information

Entry name

APBA3_HUMAN

Accession

Primary (citable) accession number: O96018
Secondary accession number(s): O60483

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	May 1, 1999
Last modified:	November 24, 2009
This is version 73 of the entry and version 1 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.