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Brain-derived neurotrophic factor (BDNF) (Abrineurin)

 BDNF_HUMAN              Reviewed;         247 AA.
P23560; A7LA85; A7LA92; D3DQZ2; Q598Q1; Q6DN19; Q6YNR2; Q6YNR3;
Q9BYY7; Q9UC24;
01-NOV-1991, integrated into UniProtKB/Swiss-Prot.
01-NOV-1991, sequence version 1.
25-OCT-2017, entry version 187.
RecName: Full=Brain-derived neurotrophic factor;
Short=BDNF;
AltName: Full=Abrineurin;
Flags: Precursor;
Name=BDNF;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND ALTERNATIVE SPLICING (ISOFORM
1).
PubMed=2236018; DOI=10.1073/pnas.87.20.8060;
Jones K.R., Reichardt L.F.;
"Molecular cloning of a human gene that is a member of the nerve
growth factor family.";
Proc. Natl. Acad. Sci. U.S.A. 87:8060-8064(1990).
[2]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
PubMed=1889806; DOI=10.1016/0888-7543(91)90436-I;
Maisonpierre P.C., le Beau M.M., Espinosa R. III, Ip N.Y.,
Belluscio L., de la Monte S.M., Squinto S., Furth M.E.,
Yancopoulos G.D.;
"Human and rat brain-derived neurotrophic factor and neurotrophin-3:
gene structures, distributions, and chromosomal localizations.";
Genomics 10:558-568(1991).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
PubMed=1339267; DOI=10.1016/S0006-291X(05)80148-2;
Shintani A., Ono Y., Kaisho Y., Igarashi K.;
"Characterization of the 5'-flanking region of the human brain-derived
neurotrophic factor gene.";
Biochem. Biophys. Res. Commun. 182:325-332(1992).
[4]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), AND
ALTERNATIVE SPLICING.
PubMed=15666411; DOI=10.1002/ajmg.b.30109;
Liu Q.-R., Walther D., Drgon T., Polesskaya O., Lesnick T.G.,
Strain K.J., de Andrade M., Bower J.H., Maraganore D.M., Uhl G.R.;
"Human brain derived neurotrophic factor (BDNF) genes, splicing
patterns, and assessments of associations with substance abuse and
Parkinson's Disease.";
Am. J. Med. Genet. B Neuropsychiatr. Genet. 134:93-103(2005).
[5]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), ALTERNATIVE
SPLICING, ALTERNATIVE PROMOTER USAGE, AND TISSUE SPECIFICITY.
TISSUE=Brain;
PubMed=17629449; DOI=10.1016/j.ygeno.2007.05.004;
Pruunsild P., Kazantseva A., Aid T., Palm K., Timmusk T.;
"Dissecting the human BDNF locus: bidirectional transcription, complex
splicing, and multiple promoters.";
Genomics 90:397-406(2007).
[6]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Cheng Y., Gu J.;
"A cDNA clone of human brain-derived neurotrophic factor (HUMBDNFD).";
Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Wu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.;
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT MET-66.
Perez-Pinera P., Gonzalez-Martinez T., Garcia-Suarez O.,
Perez-Perez M., Esteban I., Monjil D., Vega J.A.;
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
TISSUE=Brain;
PubMed=14702039; DOI=10.1038/ng1285;
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.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=16554811; DOI=10.1038/nature04632;
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., 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.;
"Human chromosome 11 DNA sequence and analysis including novel gene
identification.";
Nature 440:497-500(2006).
[11]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[12]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
[13]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[14]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 185-227.
TISSUE=Leukocyte;
PubMed=2025430; DOI=10.1016/0896-6273(91)90180-8;
Hallboeoek F., Ibanez C.F., Persson H.;
"Evolutionary studies of the nerve growth factor family reveal a novel
member abundantly expressed in Xenopus ovary.";
Neuron 6:845-858(1991).
[15]
PROTEIN SEQUENCE OF 129-144.
TISSUE=Serum;
PubMed=8527932; DOI=10.1006/prep.1995.1062;
Rosenfeld R.D., Zeni L., Haniu M., Talvenheimo J., Radka S.F.,
Bennett L., Miller J.A., Welcher A.A.;
"Purification and identification of brain-derived neurotrophic factor
from human serum.";
Protein Expr. Purif. 6:465-471(1995).
[16]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-197.
PubMed=11214319; DOI=10.1038/35054550;
Murphy W.J., Eizirik E., Johnson W.E., Zhang Y.-P., Ryder O.A.,
O'Brien S.J.;
"Molecular phylogenetics and the origins of placental mammals.";
Nature 409:614-618(2001).
[17]
CHARACTERIZATION, AND MUTAGENESIS OF ARG-54.
PubMed=11152678; DOI=10.1074/jbc.M008104200;
Mowla S.J., Farhadi H.F., Pareek S., Atwal J.K., Morris S.J.,
Seidah N.G., Murphy R.A.;
"Biosynthesis and post-translational processing of the precursor to
brain-derived neurotrophic factor.";
J. Biol. Chem. 276:12660-12666(2001).
[18]
INVOLVEMENT IN BULN2, AND VARIANT MET-66.
PubMed=15115760; DOI=10.1093/hmg/ddh137;
Ribases M., Gratacos M., Fernandez-Aranda F., Bellodi L., Boni C.,
Anderluh M., Cavallini M.C., Cellini E., Di Bella D., Erzegovesi S.,
Foulon C., Gabrovsek M., Gorwood P., Hebebrand J., Hinney A.,
Holliday J., Hu X., Karwautz A., Kipman A., Komel R., Nacmias B.,
Remschmidt H., Ricca V., Sorbi S., Wagner G., Treasure J.,
Collier D.A., Estivill X.;
"Association of BDNF with anorexia, bulimia and age of onset of weight
loss in six European populations.";
Hum. Mol. Genet. 13:1205-1212(2004).
[19]
INVOLVEMENT IN WAGRO SYNDROME.
PubMed=18753648; DOI=10.1056/NEJMoa0801119;
Han J.C., Liu Q.-R., Jones M., Levinn R.L., Menzie C.M.,
Jefferson-George K.S., Adler-Wailes D.C., Sanford E.L., Lacbawan F.L.,
Uhl G.R., Rennert O.M., Yanovski J.A.;
"Brain-derived neurotrophic factor and obesity in the WAGR syndrome.";
N. Engl. J. Med. 359:918-927(2008).
[20]
ERRATUM.
Han J.C., Liu Q.-R., Jones M., Levinn R.L., Menzie C.M.,
Jefferson-George K.S., Adler-Wailes D.C., Sanford E.L., Lacbawan F.L.,
Uhl G.R., Rennert O.M., Yanovski J.A.;
N. Engl. J. Med. 359:1414-1414(2008).
[21]
X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS).
PubMed=7703225; DOI=10.1021/bi00013a001;
Robinson R.C., Radziejewski C., Stuart D.I., Jones E.Y.;
"Structure of the brain-derived neurotrophic factor/neurotrophin 3
heterodimer.";
Biochemistry 34:4139-4146(1995).
[22]
VARIANT MET-66.
PubMed=10391209; DOI=10.1038/10290;
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
Lander E.S.;
"Characterization of single-nucleotide polymorphisms in coding regions
of human genes.";
Nat. Genet. 22:231-238(1999).
[23]
ERRATUM.
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N.,
Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L.,
Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q.,
Lander E.S.;
Nat. Genet. 23:373-373(1999).
[24]
VARIANT CCHS ILE-2.
PubMed=11840487; DOI=10.1002/ajmg.10133;
Weese-Mayer D.E., Bolk S., Silvestri J.M., Chakravarti A.;
"Idiopathic congenital central hypoventilation syndrome: evaluation of
brain-derived neurotrophic factor genomic DNA sequence variation.";
Am. J. Med. Genet. 107:306-310(2002).
[25]
VARIANT MET-66, AND ROLE OF VARIANT MET-66 IN OBSESSIVE-COMPULSIVE
DISORDER.
PubMed=12836135; DOI=10.1086/377003;
Hall D., Dhilla A., Charalambous A., Gogos J.A., Karayiorgou M.;
"Sequence variants of the brain-derived neurotrophic factor (BDNF)
gene are strongly associated with obsessive-compulsive disorder.";
Am. J. Hum. Genet. 73:370-376(2003).
[26]
VARIANT MET-66, CHARACTERIZATION OF VARIANT MET-66, AND ROLE IN
EPISODIC MEMORY.
PubMed=12553913; DOI=10.1016/S0092-8674(03)00035-7;
Egan M.F., Kojima M., Callicott J.H., Goldberg T.E., Kolachana B.S.,
Bertolino A., Zaitsev E., Gold B., Goldman D., Dean M., Lu B.,
Weinberger D.R.;
"The BDNF val66met polymorphism affects activity-dependent secretion
of BDNF and human memory and hippocampal function.";
Cell 112:257-269(2003).
[27]
VARIANT MET-66.
PubMed=14566559; DOI=10.1007/s00439-003-1036-z;
Sasaki A., Kanai M., Kijima K., Akaba K., Hashimoto M., Hasegawa H.,
Otaki S., Koizumi T., Kusuda S., Ogawa Y., Tuchiya K., Yamamoto W.,
Nakamura T., Hayasaka K.;
"Molecular analysis of congenital central hypoventilation syndrome.";
Hum. Genet. 114:22-26(2003).
[28]
VARIANT MET-66, AND ASSOCIATION OF VARIANT MET-66 WITH ANR.
PubMed=12888803; DOI=10.1038/sj.mp.4001281;
Ribases M., Gratacos M., Armengol L., de Cid R., Badia A., Jimenez L.,
Solano R., Vallejo J., Fernandez F., Estivill X.;
"Met66 in the brain-derived neurotrophic factor (BDNF) precursor is
associated with anorexia nervosa restrictive type.";
Mol. Psychiatry 8:745-751(2003).
-!- FUNCTION: During development, promotes the survival and
differentiation of selected neuronal populations of the peripheral
and central nervous systems. Participates in axonal growth,
pathfinding and in the modulation of dendritic growth and
morphology. Major regulator of synaptic transmission and
plasticity at adult synapses in many regions of the CNS. The
versatility of BDNF is emphasized by its contribution to a range
of adaptive neuronal responses including long-term potentiation
(LTP), long-term depression (LTD), certain forms of short-term
synaptic plasticity, as well as homeostatic regulation of
intrinsic neuronal excitability. {ECO:0000269|PubMed:12553913}.
-!- SUBUNIT: Monomers and homodimers. Binds to NTRK2/TRKB.
-!- SUBCELLULAR LOCATION: Secreted.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;
Comment=2 types of transcripts are produced: non-coding
transcripts (antisense, opposite strand (OS), 8 exons) and
coding transcripts (11 exons). Brain BDNF and anti-BDNF
transcripts form dsRNA duplexes.;
Name=1;
IsoId=P23560-1; Sequence=Displayed;
Name=2;
IsoId=P23560-2; Sequence=VSP_037948;
Name=3;
IsoId=P23560-3; Sequence=VSP_038099;
Name=4;
IsoId=P23560-4; Sequence=VSP_038100;
Name=5;
IsoId=P23560-5; Sequence=VSP_038101;
-!- TISSUE SPECIFICITY: Brain. Highly expressed in hippocampus,
amygdala, cerebral cortex and cerebellum. Also expressed in heart,
lung, skeletal muscle, testis, prostate and placenta.
{ECO:0000269|PubMed:17629449}.
-!- PTM: The propeptide is N-glycosylated and glycosulfated.
-!- PTM: Converted into mature BDNF by plasmin (PLG). {ECO:0000250}.
-!- DISEASE: Bulimia nervosa 2 (BULN2) [MIM:610269]: A psychiatric
disorder characterized by eating an unusually large amount of food
in a short period of time, followed by inappropriate acts
(purging) to avert weight gain. Compensatory behavior includes
self-induced vomiting, laxative abuse, and excessive exercise.
{ECO:0000269|PubMed:15115760}. Note=Disease susceptibility is
associated with variations affecting the gene represented in this
entry.
-!- DISEASE: Congenital central hypoventilation syndrome (CCHS)
[MIM:209880]: Rare disorder characterized by abnormal control of
respiration in the absence of neuromuscular or lung disease, or an
identifiable brain stem lesion. A deficiency in autonomic control
of respiration results in inadequate or negligible ventilatory and
arousal responses to hypercapnia and hypoxemia.
{ECO:0000269|PubMed:11840487}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the NGF-beta family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Wikipedia; Note=BDNF entry;
URL="https://en.wikipedia.org/wiki/Brain-derived_neurotrophic_factor";
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EMBL; M37762; AAA51820.1; -; Genomic_DNA.
EMBL; M61176; AAA69805.2; -; mRNA.
EMBL; M61181; AAA96140.1; -; Genomic_DNA.
EMBL; X60201; CAA42761.1; -; mRNA.
EMBL; AY054392; AAL23557.2; -; mRNA.
EMBL; AY054393; AAL23558.1; -; mRNA.
EMBL; AY054394; AAL23559.1; -; mRNA.
EMBL; AY054395; AAL23560.1; -; mRNA.
EMBL; AY054396; AAL23561.1; -; mRNA.
EMBL; AY054397; AAL23562.1; -; mRNA.
EMBL; AY054398; AAL23563.1; -; mRNA.
EMBL; AY054399; AAL23564.1; -; mRNA.
EMBL; AY054400; AAL23565.2; -; mRNA.
EMBL; AF411339; AAO15434.1; -; Genomic_DNA.
EMBL; EF674517; ABS29021.1; -; mRNA.
EMBL; EF674518; ABS29022.1; -; mRNA.
EMBL; EF674519; ABS29023.1; -; mRNA.
EMBL; EF674520; ABS29024.1; -; mRNA.
EMBL; EF674521; ABS29025.1; -; mRNA.
EMBL; EF689009; ABS32249.1; -; mRNA.
EMBL; EF689010; ABS32250.1; -; mRNA.
EMBL; EF689011; ABS32251.1; -; mRNA.
EMBL; EF689012; ABS32252.1; -; mRNA.
EMBL; EF689013; ABS32253.1; -; mRNA.
EMBL; EF689014; ABS32254.1; -; mRNA.
EMBL; EF689015; ABS32255.1; -; mRNA.
EMBL; EF689016; ABS32256.1; -; mRNA.
EMBL; EF689017; ABS32257.1; -; mRNA.
EMBL; EF689018; ABS32258.1; -; mRNA.
EMBL; EF689019; ABS32259.1; -; mRNA.
EMBL; EF689020; ABS32260.1; -; mRNA.
EMBL; EF689021; ABS32261.1; -; mRNA.
EMBL; X91251; CAA62632.1; -; mRNA.
EMBL; AF400438; AAK92487.1; -; mRNA.
EMBL; AY656701; AAT74399.1; -; mRNA.
EMBL; AK289853; BAF82542.1; -; mRNA.
EMBL; AK289763; BAF82452.1; -; mRNA.
EMBL; AC104563; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471064; EAW68274.1; -; Genomic_DNA.
EMBL; CH471064; EAW68278.1; -; Genomic_DNA.
EMBL; CH471064; EAW68279.1; -; Genomic_DNA.
EMBL; CH471064; EAW68275.1; -; Genomic_DNA.
EMBL; CH471064; EAW68276.1; -; Genomic_DNA.
EMBL; CH471064; EAW68277.1; -; Genomic_DNA.
EMBL; BC029795; AAH29795.1; -; mRNA.
EMBL; AY011481; AAG47514.1; -; Genomic_DNA.
CCDS; CCDS41628.1; -. [P23560-3]
CCDS; CCDS44558.1; -. [P23560-4]
CCDS; CCDS7865.1; -. [P23560-2]
CCDS; CCDS7866.1; -. [P23560-1]
PIR; B36208; A40304.
RefSeq; NP_001137277.1; NM_001143805.1. [P23560-1]
RefSeq; NP_001137278.1; NM_001143806.1. [P23560-1]
RefSeq; NP_001137279.1; NM_001143807.1. [P23560-1]
RefSeq; NP_001137280.1; NM_001143808.1. [P23560-1]
RefSeq; NP_001137281.1; NM_001143809.1. [P23560-5]
RefSeq; NP_001137282.1; NM_001143810.1. [P23560-4]
RefSeq; NP_001137283.1; NM_001143811.1. [P23560-1]
RefSeq; NP_001137284.1; NM_001143812.1. [P23560-1]
RefSeq; NP_001137285.1; NM_001143813.1. [P23560-1]
RefSeq; NP_001137286.1; NM_001143814.1. [P23560-1]
RefSeq; NP_001137288.1; NM_001143816.1. [P23560-1]
RefSeq; NP_001700.2; NM_001709.4. [P23560-1]
RefSeq; NP_733927.1; NM_170731.4. [P23560-2]
RefSeq; NP_733928.1; NM_170732.4. [P23560-1]
RefSeq; NP_733929.1; NM_170733.3. [P23560-1]
RefSeq; NP_733930.1; NM_170734.3. [P23560-3]
RefSeq; NP_733931.1; NM_170735.5. [P23560-1]
RefSeq; XP_011518582.1; XM_011520280.2. [P23560-4]
UniGene; Hs.502182; -.
PDB; 1B8M; X-ray; 2.75 A; A=129-247.
PDB; 1BND; X-ray; 2.30 A; A=129-247.
PDBsum; 1B8M; -.
PDBsum; 1BND; -.
ProteinModelPortal; P23560; -.
SMR; P23560; -.
BioGrid; 107096; 10.
DIP; DIP-5719N; -.
IntAct; P23560; 9.
MINT; MINT-1508504; -.
STRING; 9606.ENSP00000414303; -.
DrugBank; DB05047; CX717.
iPTMnet; P23560; -.
PhosphoSitePlus; P23560; -.
BioMuta; BDNF; -.
DMDM; 114900; -.
PaxDb; P23560; -.
PeptideAtlas; P23560; -.
PRIDE; P23560; -.
TopDownProteomics; P23560-2; -. [P23560-2]
DNASU; 627; -.
Ensembl; ENST00000314915; ENSP00000320002; ENSG00000176697. [P23560-2]
Ensembl; ENST00000356660; ENSP00000349084; ENSG00000176697. [P23560-1]
Ensembl; ENST00000395978; ENSP00000379302; ENSG00000176697. [P23560-1]
Ensembl; ENST00000395980; ENSP00000379304; ENSG00000176697. [P23560-1]
Ensembl; ENST00000395981; ENSP00000379305; ENSG00000176697. [P23560-1]
Ensembl; ENST00000395983; ENSP00000379307; ENSG00000176697. [P23560-1]
Ensembl; ENST00000395986; ENSP00000379309; ENSG00000176697. [P23560-3]
Ensembl; ENST00000418212; ENSP00000400502; ENSG00000176697. [P23560-1]
Ensembl; ENST00000420794; ENSP00000389564; ENSG00000176697. [P23560-1]
Ensembl; ENST00000438929; ENSP00000414303; ENSG00000176697. [P23560-4]
Ensembl; ENST00000439476; ENSP00000389345; ENSG00000176697. [P23560-1]
Ensembl; ENST00000525528; ENSP00000437138; ENSG00000176697. [P23560-1]
Ensembl; ENST00000525950; ENSP00000432035; ENSG00000176697. [P23560-1]
Ensembl; ENST00000530861; ENSP00000435564; ENSG00000176697. [P23560-1]
Ensembl; ENST00000532997; ENSP00000435805; ENSG00000176697. [P23560-1]
Ensembl; ENST00000533131; ENSP00000432727; ENSG00000176697. [P23560-1]
Ensembl; ENST00000533246; ENSP00000432376; ENSG00000176697. [P23560-1]
GeneID; 627; -.
KEGG; hsa:627; -.
UCSC; uc001mrt.4; human. [P23560-1]
CTD; 627; -.
DisGeNET; 627; -.
EuPathDB; HostDB:ENSG00000176697.18; -.
GeneCards; BDNF; -.
H-InvDB; HIX0035926; -.
HGNC; HGNC:1033; BDNF.
HPA; CAB009564; -.
HPA; HPA031440; -.
HPA; HPA056104; -.
MalaCards; BDNF; -.
MIM; 113505; gene.
MIM; 209880; phenotype.
MIM; 610269; phenotype.
neXtProt; NX_P23560; -.
OpenTargets; ENSG00000176697; -.
Orphanet; 893; WAGR syndrome.
PharmGKB; PA31891; -.
eggNOG; ENOG410IH7X; Eukaryota.
eggNOG; ENOG410XRPH; LUCA.
GeneTree; ENSGT00390000007725; -.
HOVERGEN; HBG006494; -.
InParanoid; P23560; -.
KO; K04355; -.
OMA; RVGWRFI; -.
OrthoDB; EOG091G0GHL; -.
PhylomeDB; P23560; -.
TreeFam; TF106463; -.
SignaLink; P23560; -.
SIGNOR; P23560; -.
EvolutionaryTrace; P23560; -.
GeneWiki; Brain-derived_neurotrophic_factor; -.
GenomeRNAi; 627; -.
PMAP-CutDB; Q6YNR3; -.
PRO; PR:P23560; -.
Proteomes; UP000005640; Chromosome 11.
Bgee; ENSG00000176697; -.
CleanEx; HS_BDNF; -.
ExpressionAtlas; P23560; baseline and differential.
Genevisible; P23560; HS.
GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
GO; GO:0031410; C:cytoplasmic vesicle; IBA:GO_Central.
GO; GO:0005576; C:extracellular region; IBA:GO_Central.
GO; GO:0005739; C:mitochondrion; IDA:HPA.
GO; GO:0016607; C:nuclear speck; IDA:HPA.
GO; GO:0048471; C:perinuclear region of cytoplasm; ISS:UniProtKB.
GO; GO:0008083; F:growth factor activity; IBA:GO_Central.
GO; GO:0005169; F:neurotrophin TRKB receptor binding; IBA:GO_Central.
GO; GO:0007411; P:axon guidance; TAS:BHF-UCL.
GO; GO:0031547; P:brain-derived neurotrophic factor receptor signaling pathway; TAS:BHF-UCL.
GO; GO:0007267; P:cell-cell signaling; IBA:GO_Central.
GO; GO:0048668; P:collateral sprouting; IDA:BHF-UCL.
GO; GO:0010832; P:negative regulation of myotube differentiation; ISS:ParkinsonsUK-UCL.
GO; GO:0043524; P:negative regulation of neuron apoptotic process; IBA:GO_Central.
GO; GO:0007399; P:nervous system development; TAS:ProtInc.
GO; GO:0031550; P:positive regulation of brain-derived neurotrophic factor receptor signaling pathway; TAS:BHF-UCL.
GO; GO:0048672; P:positive regulation of collateral sprouting; IDA:BHF-UCL.
GO; GO:1900122; P:positive regulation of receptor binding; IDA:ParkinsonsUK-UCL.
GO; GO:0051965; P:positive regulation of synapse assembly; IDA:BHF-UCL.
GO; GO:2000008; P:regulation of protein localization to cell surface; TAS:ParkinsonsUK-UCL.
GO; GO:0007416; P:synapse assembly; IDA:BHF-UCL.
Gene3D; 2.10.90.10; -; 1.
InterPro; IPR020430; Brain-der_neurotrophic_factor.
InterPro; IPR029034; Cystine-knot_cytokine.
InterPro; IPR020408; Nerve_growth_factor-like.
InterPro; IPR002072; Nerve_growth_factor-rel.
InterPro; IPR019846; Nerve_growth_factor_CS.
PANTHER; PTHR11589; PTHR11589; 1.
PANTHER; PTHR11589:SF3; PTHR11589:SF3; 1.
Pfam; PF00243; NGF; 1.
PIRSF; PIRSF001789; NGF; 1.
PRINTS; PR01912; BDNFACTOR.
PRINTS; PR00268; NGF.
ProDom; PD002052; Nerve_growth_factor-rel; 1.
SMART; SM00140; NGF; 1.
SUPFAM; SSF57501; SSF57501; 1.
PROSITE; PS00248; NGF_1; 1.
PROSITE; PS50270; NGF_2; 1.
1: Evidence at protein level;
3D-structure; Alternative promoter usage; Alternative splicing;
Cleavage on pair of basic residues; Complete proteome;
Direct protein sequencing; Disease mutation; Disulfide bond;
Glycoprotein; Growth factor; Polymorphism; Reference proteome;
Secreted; Signal.
SIGNAL 1 18 {ECO:0000255}.
PROPEP 19 128 {ECO:0000269|PubMed:8527932}.
/FTId=PRO_0000019633.
CHAIN 129 247 Brain-derived neurotrophic factor.
/FTId=PRO_0000019634.
SITE 57 58 Cleavage; by S1P.
CARBOHYD 121 121 N-linked (GlcNAc...) asparagine.
DISULFID 141 208
DISULFID 186 237
DISULFID 196 239
VAR_SEQ 1 1 M -> MFHQVRRVM (in isoform 2).
{ECO:0000303|PubMed:14702039,
ECO:0000303|PubMed:15666411,
ECO:0000303|PubMed:17629449}.
/FTId=VSP_037948.
VAR_SEQ 1 1 M -> MQSREEEWFHQVRRVM (in isoform 3).
{ECO:0000303|PubMed:15666411,
ECO:0000303|PubMed:17629449}.
/FTId=VSP_038099.
VAR_SEQ 1 1 M -> MCGATSFLHECTRLILVTTQNAEFLQKGLQVHTCFG
VYPHASVWHDCASQKKGCAVYLHVSVEFNKLIPENGFIKFH
QVRRVM (in isoform 4).
{ECO:0000303|PubMed:17629449}.
/FTId=VSP_038100.
VAR_SEQ 1 1 M -> MLCAISLCARVRKLRSAGRCGKFHQVRRVM (in
isoform 5).
{ECO:0000303|PubMed:17629449}.
/FTId=VSP_038101.
VARIANT 2 2 T -> I (in CCHS; dbSNP:rs8192466).
{ECO:0000269|PubMed:11840487}.
/FTId=VAR_018260.
VARIANT 66 66 V -> M (polymorphism; strongly associated
with susceptibility to eating disorders
such as anorexia nervosa and bulimia
nervosa; associated with poorer episodic
memory; may have a protective effect in
obsessive-compulsive disorder; impairs
localization to secretory granules or
synapses; dbSNP:rs6265).
{ECO:0000269|PubMed:10391209,
ECO:0000269|PubMed:12553913,
ECO:0000269|PubMed:12836135,
ECO:0000269|PubMed:12888803,
ECO:0000269|PubMed:14566559,
ECO:0000269|PubMed:15115760,
ECO:0000269|Ref.8}.
/FTId=VAR_004626.
VARIANT 75 75 Q -> H (in dbSNP:rs1048218).
/FTId=VAR_011797.
VARIANT 125 125 R -> M (in dbSNP:rs1048220).
/FTId=VAR_011798.
VARIANT 127 127 R -> L (in dbSNP:rs1048221).
/FTId=VAR_011799.
MUTAGEN 54 54 R->A: Abolishes processing by S1P.
{ECO:0000269|PubMed:11152678}.
STRAND 138 141 {ECO:0000244|PDB:1BND}.
STRAND 143 149 {ECO:0000244|PDB:1BND}.
HELIX 150 153 {ECO:0000244|PDB:1BND}.
STRAND 155 158 {ECO:0000244|PDB:1BND}.
STRAND 163 166 {ECO:0000244|PDB:1BND}.
STRAND 168 171 {ECO:0000244|PDB:1BND}.
STRAND 173 178 {ECO:0000244|PDB:1BND}.
STRAND 180 186 {ECO:0000244|PDB:1BND}.
HELIX 191 193 {ECO:0000244|PDB:1BND}.
TURN 201 203 {ECO:0000244|PDB:1BND}.
STRAND 204 220 {ECO:0000244|PDB:1BND}.
STRAND 226 243 {ECO:0000244|PDB:1BND}.
SEQUENCE 247 AA; 27818 MW; 0A60488254722A99 CRC64;
MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA
DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA
NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY
FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT
LTIKRGR


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