O94812 (BAIP3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
BAI1-associated protein 3
Short name=BAP3

Gene names

Name:	BAIAP3
Synonyms:	KIAA0734

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	1187 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subunit structure	Interacts with BAI1. Ref.1
Tissue specificity	Predominantly expressed in brain. Ref.1
Sequence similarities	Contains 2 C2 domains. Contains 1 MHD1 (MUNC13 homology domain 1) domain. Contains 1 MHD2 (MUNC13 homology domain 2) domain.
Sequence caution	The sequence BAA34454.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	G-protein coupled receptor signaling pathway Inferred from physical interaction Ref.1. Source: MGI neurotransmitter secretion Traceable author statement. Source: ProtInc
Molecular function	protein C-terminus binding Traceable author statement. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O94812-1)

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: O94812-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.
     108-108: E → EAWGSPCRQSPHPGTHTQ

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1187	1187	BAI1-associated protein 3		PRO_0000064819
Regions
	Domain	182 – 317	136	C2 1
	Domain	663 – 784	122	MHD1
	Domain	888 – 996	109	MHD2
	Domain	1012 – 1119	108	C2 2
Natural variations
	Alternative sequence	1 – 35	35	Missing in isoform 2.		VSP_019231
	Alternative sequence	108	1	E → EAWGSPCRQSPHPGTHTQ in isoform 2.		VSP_019232
	Natural variant	582	1	D → A. Ref.1 Ref.4 Ref.5 Ref.8 Corresponds to variant rs1132356 [ dbSNP | Ensembl ].		VAR_026667
	Natural variant	879	1	S → I. Corresponds to variant rs36074509 [ dbSNP | Ensembl ].		VAR_050687

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified August 31, 2004. Version 2. Checksum: E38EF36E91BE7DEB	FASTA	1,187	131,901
	10 20 30 40 50 60 MRPRGAAFAA GPPGDLHLGT AIGFAGAIWR SRSPAMSTLL DIKSSVLRQV QVCPSFRRRT 70 80 90 100 110 120 EQDPGSASAD PQEPATGAWK PGDGVEFFAH MRLMLKKGEG RQGLPCLEVP LRSGSPAPPE 130 140 150 160 170 180 PVDPSLGLRA LAPEEVEMLY EEALYTVLYR AGTMGPDQVD DEEALLSYLQ QVFGTSLEEH 190 200 210 220 230 240 TEAIERVRKA KAPTYALKVS VMRAKNLLAK DPNGFSDPYC MLGILPASDA TREPRAQKEQ 250 260 270 280 290 300 RFGFRKGSKR GGPLPAKCIQ VTEVKSSTLN PVWKEHFLFE IEDVSTDQLH LDIWDHDDDV 310 320 330 340 350 360 SLVEACRKLN EVIGLKGMGR YFKQIVKSAR ANGTAGPTED HTDDFLGCLN IPVREVPVAG 370 380 390 400 410 420 VDRWFKLEPR SSASRVQGHC HLVLKLITTQ RDTAMSQRGR SGFLSHLLLL SHLLRLEHSA 430 440 450 460 470 480 EEPNSSSWRG ELSTPAATIL CLHGAQSNLS PLQLAVLHWQ VSSRHHQTCT LDYSYLLGLL 490 500 510 520 530 540 EDMQAHWEEA PSLPQEQEES LADSLSAFSE FGLQLLRQLR DYFPATNSTA VHRLELLLKC 550 560 570 580 590 600 LGKLQLFQPS FEICPFESEL NMDIAAALKR GNREWYDRIL NDKSPREQPG PQRLPGLVVL 610 620 630 640 650 660 ADAVYDDLQF CYSVYASLFH SILNVDVFTL TFRQLERLVA EEAWVLTEEL SPKMTLEVAS 670 680 690 700 710 720 GLFELYLTLA DLQRFWDSIP GRDSRSLALA GIHAPFLPAV KLWFQVLRDQ AKWRLQGAVD 730 740 750 760 770 780 MDTLEPVDAS SRHSSSAATA GLCLSHIQEL WVRLAWPDPA QAQGLGTQLG QDVCEATLFY 790 800 810 820 830 840 TELLRKKVDT QPGAAGEAVS EALCVVLNNV ELVRKAAGQA LKGLAWPEGA TGPEGVLPRP 850 860 870 880 890 900 LLSCTQALDD DLQREAHTVT AHLTSKMVGD IRKYVQHISL SPDSIQNDEA VAPLMKYLDE 910 920 930 940 950 960 KLALLNASLV KGNLSRVLEA LWELLLQAIL QALGANRDVS ADFYSRFHFT LEALVSFFHA 970 980 990 1000 1010 1020 EGQGLPLESL RDGSYKRLKE ELRLHKCSTR ECIEQFYLDK LKQRTLEQNR FGRLSVRCHY 1030 1040 1050 1060 1070 1080 EAAEQRLAVE VLHAADLLPL DANGLSDPFV IVELGPPHLF PLVRSQRTQV KTRTLHPVYD 1090 1100 1110 1120 1130 1140 ELFYFSVPAE ACRRRAACVL FTVMDHDWLS TNDFAGEAAL GLGGVTGVAR PQVGGGARAG 1150 1160 1170 1180 QPVTLHLCRP RAQVRSALRR LEGRTSKEAQ EFVKKLKELE KCMEADP
	Isoform 2 [UniParc]. Checksum: 59A41BB52660B799	FASTA	1,169	130,214
	10 20 30 40 50 60 MSTLLDIKSS VLRQVQVCPS FRRRTEQDPG SASADPQEPA TGAWKPGDGV EFFAHMRLML 70 80 90 100 110 120 KKGEGRQGLP CLEAWGSPCR QSPHPGTHTQ VPLRSGSPAP PEPVDPSLGL RALAPEEVEM 130 140 150 160 170 180 LYEEALYTVL YRAGTMGPDQ VDDEEALLSY LQQVFGTSLE EHTEAIERVR KAKAPTYALK 190 200 210 220 230 240 VSVMRAKNLL AKDPNGFSDP YCMLGILPAS DATREPRAQK EQRFGFRKGS KRGGPLPAKC 250 260 270 280 290 300 IQVTEVKSST LNPVWKEHFL FEIEDVSTDQ LHLDIWDHDD DVSLVEACRK LNEVIGLKGM 310 320 330 340 350 360 GRYFKQIVKS ARANGTAGPT EDHTDDFLGC LNIPVREVPV AGVDRWFKLE PRSSASRVQG 370 380 390 400 410 420 HCHLVLKLIT TQRDTAMSQR GRSGFLSHLL LLSHLLRLEH SAEEPNSSSW RGELSTPAAT 430 440 450 460 470 480 ILCLHGAQSN LSPLQLAVLH WQVSSRHHQT CTLDYSYLLG LLEDMQAHWE EAPSLPQEQE 490 500 510 520 530 540 ESLADSLSAF SEFGLQLLRQ LRDYFPATNS TAVHRLELLL KCLGKLQLFQ PSFEICPFES 550 560 570 580 590 600 ELNMDIAAAL KRGNREWYDR ILNDKSPREQ PGPQRLPGLV VLADAVYDDL QFCYSVYASL 610 620 630 640 650 660 FHSILNVDVF TLTFRQLERL VAEEAWVLTE ELSPKMTLEV ASGLFELYLT LADLQRFWDS 670 680 690 700 710 720 IPGRDSRSLA LAGIHAPFLP AVKLWFQVLR DQAKWRLQGA VDMDTLEPVD ASSRHSSSAA 730 740 750 760 770 780 TAGLCLSHIQ ELWVRLAWPD PAQAQGLGTQ LGQDVCEATL FYTELLRKKV DTQPGAAGEA 790 800 810 820 830 840 VSEALCVVLN NVELVRKAAG QALKGLAWPE GATGPEGVLP RPLLSCTQAL DDDLQREAHT 850 860 870 880 890 900 VTAHLTSKMV GDIRKYVQHI SLSPDSIQND EAVAPLMKYL DEKLALLNAS LVKGNLSRVL 910 920 930 940 950 960 EALWELLLQA ILQALGANRD VSADFYSRFH FTLEALVSFF HAEGQGLPLE SLRDGSYKRL 970 980 990 1000 1010 1020 KEELRLHKCS TRECIEQFYL DKLKQRTLEQ NRFGRLSVRC HYEAAEQRLA VEVLHAADLL 1030 1040 1050 1060 1070 1080 PLDANGLSDP FVIVELGPPH LFPLVRSQRT QVKTRTLHPV YDELFYFSVP AEACRRRAAC 1090 1100 1110 1120 1130 1140 VLFTVMDHDW LSTNDFAGEA ALGLGGVTGV ARPQVGGGAR AGQPVTLHLC RPRAQVRSAL 1150 1160 RRLEGRTSKE AQEFVKKLKE LEKCMEADP

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and characterization of BAP3 (BAI-associated protein 3), a C2 domain-containing protein that interacts with BAI1." Shiratsuchi T., Oda K., Nishimori H., Suzuki M., Takahashi E., Tokino T., Nakamura Y. Biochem. Biophys. Res. Commun. 251:158-165(1998) [PubMed: 9790924] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], INTERACTION WITH BAI1, TISSUE SPECIFICITY, VARIANT ALA-582.
[2]	"Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:277-286(1998) [PubMed: 9872452] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[3]	"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones." Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T. DNA Res. 9:99-106(2002) [PubMed: 12168954] [Abstract] Cited for: SEQUENCE REVISION.
[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. , 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] (ISOFORM 1), VARIANT ALA-582. Tissue: Hippocampus.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-582. Tissue: Amygdala.
[6]	"Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16." Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C., Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R. Hum. Mol. Genet. 10:339-352(2001) [PubMed: 11157797] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The sequence and analysis of duplication-rich human chromosome 16." Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A. Nature 432:988-994(2004) [PubMed: 15616553] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ALA-582. Tissue: Brain.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB017111 Genomic DNA. Translation: BAA34710.1. AB018277 mRNA. Translation: BAA34454.2. Different initiation. AK315059 mRNA. Translation: BAG37534.1. AL834321 mRNA. Translation: CAH56376.1. AE006467 Genomic DNA. Translation: AAK61275.1. AL031709 Genomic DNA. Translation: CAB56182.2. BC104966 mRNA. Translation: AAI04967.1. BC112129 mRNA. Translation: AAI12130.1.
IPI	IPI00181743. IPI00644544.
PIR	JE0347.
RefSeq	NP_001186025.1. NM_001199096.1. NP_001186026.1. NM_001199097.1. NP_001186027.1. NM_001199098.1. NP_001186028.1. NM_001199099.1. NP_003924.2. NM_003933.4.
UniGene	Hs.458427.
3D structure databases
ProteinModelPortal	O94812.
SMR	O94812. Positions 193-371, 1027-1125.
ModBase	Search...
Protein-protein interaction databases
IntAct	O94812. 1 interaction.
STRING	O94812.
PTM databases
PhosphoSite	O94812.
Proteomic databases
PRIDE	O94812.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000324385; ENSP00000324510; ENSG00000007516.
GeneID	8938.
KEGG	hsa:8938.
UCSC	uc002clj.1. human. uc002clk.1. human.
Organism-specific databases
CTD	8938.
GeneCards	GC16P001383.
H-InvDB	HIX0202238.
HGNC	HGNC:948. BAIAP3.
HPA	HPA015627.
MIM	604009. gene.
neXtProt	NX_O94812.
PharmGKB	PA25252.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00580000081383.
HOVERGEN	HBG050658.
InParanoid	O94812.
OMA	SHIQELW.
PhylomeDB	O94812.
Gene expression databases
ArrayExpress	O94812.
Bgee	O94812.
CleanEx	HS_BAIAP3.
Genevestigator	O94812.
GermOnline	ENSG00000007516. Homo sapiens.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR018029. C2_membr_targeting. IPR014770. Munc13_1. IPR014772. Munc13_dom-2. IPR019558. Munc13_subgr_dom-2. [Graphical view]
KO	K15621.
Pfam	PF00168. C2. 2 hits. PF10540. Membr_traf_MHD. 1 hit. [Graphical view]
SMART	SM00239. C2. 2 hits. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 2 hits.
PROSITE	PS50004. C2. 2 hits. PS51258. MHD1. 1 hit. PS51259. MHD2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	33610.
SOURCE	Search...

Entry information

Entry name

BAIP3_HUMAN

Accession

Primary (citable) accession number: O94812
Secondary accession number(s): B2RCD7 , O94839, Q2M226, Q658J2, Q76N05, Q96RZ3, Q9UJK1

Entry history

Integrated into UniProtKB/Swiss-Prot:	August 31, 2004
Last sequence update:	August 31, 2004
Last modified:	January 25, 2012
This is version 85 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.