P23560 (BDNF_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Brain-derived neurotrophic factor
Short name=BDNF

Alternative name(s):
Abrineurin

Gene names

Name:

BDNF

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	247 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

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. Ref.26
Subunit structure	Monomers and homodimers. Binds to NTRK2/TRKB.
Subcellular location	Secreted.
Tissue specificity	Brain. Highly expressed in hippocampus, amygdala, cerebral cortex and cerebellum. Also expressed in heart, lung, skeletal muscle, testis, prostate and placenta. Ref.5
Post-translational modification	The propeptide is N-glycosylated and glycosulfated. Converted into mature BDNF by plasmin (PLG) By similarity.
Polymorphism	Variations in BDNF are associated with susceptibility to bulimia nervosa 2 (BULN2) [MIM:610269]. Several genes with an essential role in the regulation of eating behavior and body weight are considered candidates involved in the etiology of eating disorders (ED), but no relevant susceptibility genes with a major effect on anorexia nervosa (AN) or bulimia nervosa (BN) have been identified. BDNF has been implicated in the regulation of food intake and body weight in rodents. A strong association has been reported of the Met-66 allele of the Val-66-Met BDNF variant with restricting AN (ANR) and low minimum body mass index in Spanish patients. Met-66 variant is strongly associated to all ED subtypes (AN, ANR, binge-eating/purging AN and BN) in European patients. Another single nucleotide polymorphism located in the promoter region of the BDNF gene showed an effect on BN and late age at onset of weight loss. These are two variants associated with the pathophysiology of ED in different populations. These variants support a role for BDNF in the susceptibility to aberrant eating behaviors.
Involvement in 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.24
Sequence similarities	Belongs to the NGF-beta family.

Ontologies

Keywords
Cellular component	Secreted
Coding sequence diversity	Alternative promoter usage Alternative splicing Polymorphism
Disease	Disease mutation
Domain	Signal
Molecular function	Growth factor
PTM	Cleavage on pair of basic residues Disulfide bond Glycoprotein
Technical term	3D-structure Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological_process	axon guidance Inferred from electronic annotation. Source: Compara axon target recognition Inferred from electronic annotation. Source: Compara chronic inflammatory response Inferred from electronic annotation. Source: Compara dendrite development Inferred from electronic annotation. Source: Compara fear response Inferred from electronic annotation. Source: Compara feeding behavior Inferred from electronic annotation. Source: Compara glutamate secretion Inferred from electronic annotation. Source: Compara inner ear development Inferred from electronic annotation. Source: Compara learning or memory Inferred from electronic annotation. Source: Compara mechanoreceptor differentiation Inferred from electronic annotation. Source: Compara mitochondrial electron transport, NADH to ubiquinone Inferred from electronic annotation. Source: Compara negative regulation of neuroblast proliferation Inferred from electronic annotation. Source: Compara negative regulation of neuron apoptotic process Inferred from electronic annotation. Source: Compara negative regulation of striated muscle tissue development Inferred from electronic annotation. Source: Compara nerve development Inferred from electronic annotation. Source: Compara nervous system development Traceable author statement Ref.1. Source: ProtInc neuron recognition Inferred from electronic annotation. Source: Compara positive regulation of long-term neuronal synaptic plasticity Inferred from electronic annotation. Source: Compara positive regulation of neuron differentiation Inferred from electronic annotation. Source: Compara positive regulation of synapse assembly Inferred from direct assay PubMed 19036963. Source: BHF-UCL regulation of excitatory postsynaptic membrane potential Inferred from electronic annotation. Source: Compara regulation of metabolic process Inferred from electronic annotation. Source: Compara regulation of retinal cell programmed cell death Inferred from electronic annotation. Source: Compara regulation of short-term neuronal synaptic plasticity Inferred from electronic annotation. Source: Compara response to anesthetic Inferred from electronic annotation. Source: Compara response to fluoxetine Inferred from electronic annotation. Source: Compara response to hormone stimulus Inferred from electronic annotation. Source: Compara response to hyperoxia Inferred from electronic annotation. Source: Compara response to hypoxia Inferred from electronic annotation. Source: Compara response to vitamin A Inferred from electronic annotation. Source: Compara ureteric bud development Inferred from electronic annotation. Source: Compara
Cellular_component	extracellular region Inferred from electronic annotation. Source: UniProtKB-SubCell perinuclear region of cytoplasm Inferred from sequence or structural similarity. Source: UniProtKB synaptic vesicle Inferred from electronic annotation. Source: Compara
Molecular_function	growth factor activity Traceable author statement Ref.1. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
NTF3	P20783	1	EBI-1026003,EBI-1025994

Alternative products

This entry describes 5 isoforms produced by alternative promoter usage and alternative splicing. [Align] [Select]

Note: 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.

Isoform 1 (identifier: P23560-1)

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: P23560-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MFHQVRRVM

Isoform 3 (identifier: P23560-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQSREEEWFHQVRRVM

Isoform 4 (identifier: P23560-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MCGATSFLHE...IKFHQVRRVM

Isoform 5 (identifier: P23560-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLCAISLCARVRKLRSAGRCGKFHQVRRVM

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Signal peptide

1 – 18

18

Potential

Propeptide

19 – 128

110

PRO_0000019633

Chain

129 – 247

119

Brain-derived neurotrophic factor

PRO_0000019634

Sites

Site

57 – 58

2

Cleavage; by S1P

Amino acid modifications

Glycosylation

121

1

N-linked (GlcNAc...)

Disulfide bond

141 ↔ 208

Disulfide bond

186 ↔ 237

Disulfide bond

196 ↔ 239

Natural variations

Alternative sequence

1

1

M → MFHQVRRVM in isoform 2.

VSP_037948

Alternative sequence

1

1

M → MQSREEEWFHQVRRVM in isoform 3.

VSP_038099

Alternative sequence

1

1

M → MCGATSFLHECTRLILVTTQ NAEFLQKGLQVHTCFGVYPH ASVWHDCASQKKGCAVYLHV SVEFNKLIPENGFIKFHQVR RVM in isoform 4.

VSP_038100

Alternative sequence

1

1

M → MLCAISLCARVRKLRSAGRC GKFHQVRRVM in isoform 5.

VSP_038101

Natural variant

2

1

T → I in CCHS. Ref.24
Corresponds to variant rs8192466 [ dbSNP | Ensembl ].

VAR_018260

Natural variant

66

1

V → M Polymorphism that impairs localization to secretory granules or synapses; associated with poorer episodic memory; may have a protective effect in obsessive-compulsive disorder. Ref.8 Ref.22 Ref.25 Ref.26 Ref.27 Ref.28
Corresponds to variant rs6265 [ dbSNP | Ensembl ].

VAR_004626

Natural variant

75

1

Q → H.
Corresponds to variant rs1048218 [ dbSNP | Ensembl ].

VAR_011797

Natural variant

125

1

R → M.
Corresponds to variant rs1048220 [ dbSNP | Ensembl ].

VAR_011798

Natural variant

127

1

R → L.
Corresponds to variant rs1048221 [ dbSNP | Ensembl ].

VAR_011799

Experimental info

Mutagenesis

54

1

R → A: Abolishes processing by S1P. Ref.17

Secondary structure

1

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

247

Helix Strand Turn

Details...

Beta strand

138 – 141

4

Beta strand

143 – 149

7

Helix

150 – 153

4

Beta strand

155 – 158

4

Beta strand

163 – 166

4

Beta strand

168 – 171

4

Beta strand

173 – 178

6

Beta strand

180 – 186

7

Helix

191 – 193

3

Turn

201 – 203

3

Beta strand

204 – 220

17

Beta strand

226 – 243

18

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1991. Version 1. Checksum: 0A60488254722A99	FASTA	247	27,818
	10 20 30 40 50 60 MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA 70 80 90 100 110 120 DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA 130 140 150 160 170 180 NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY 190 200 210 220 230 240 FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR
	Isoform 2 [UniParc]. Checksum: 0E3881F4944CA23C	FASTA	255	28,872
	10 20 30 40 50 60 MFHQVRRVMT ILFLTMVISY FGCMKAAPMK EANIRGQGGL AYPGVRTHGT LESVNGPKAG 70 80 90 100 110 120 SRGLTSLADT FEHVIEELLD EDQKVRPNEE NNKDADLYTS RVMLSSQVPL EPPLLFLLEE 130 140 150 160 170 180 YKNYLDAANM SMRVRRHSDP ARRGELSVCD SISEWVTAAD KKTAVDMSGG TVTVLEKVPV 190 200 210 220 230 240 SKGQLKQYFY ETKCNPMGYT KEGCRGIDKR HWNSQCRTTQ SYVRALTMDS KKRIGWRFIR 250 IDTSCVCTLT IKRGR
	Isoform 3 [UniParc]. Checksum: 28DDC6F9E19BC727	FASTA	262	29,817
	10 20 30 40 50 60 MQSREEEWFH QVRRVMTILF LTMVISYFGC MKAAPMKEAN IRGQGGLAYP GVRTHGTLES 70 80 90 100 110 120 VNGPKAGSRG LTSLADTFEH VIEELLDEDQ KVRPNEENNK DADLYTSRVM LSSQVPLEPP 130 140 150 160 170 180 LLFLLEEYKN YLDAANMSMR VRRHSDPARR GELSVCDSIS EWVTAADKKT AVDMSGGTVT 190 200 210 220 230 240 VLEKVPVSKG QLKQYFYETK CNPMGYTKEG CRGIDKRHWN SQCRTTQSYV RALTMDSKKR 250 260 IGWRFIRIDT SCVCTLTIKR GR
	Isoform 4 [UniParc]. Checksum: 5D19D9F2F62588FA	FASTA	329	37,120
	10 20 30 40 50 60 MCGATSFLHE CTRLILVTTQ NAEFLQKGLQ VHTCFGVYPH ASVWHDCASQ KKGCAVYLHV 70 80 90 100 110 120 SVEFNKLIPE NGFIKFHQVR RVMTILFLTM VISYFGCMKA APMKEANIRG QGGLAYPGVR 130 140 150 160 170 180 THGTLESVNG PKAGSRGLTS LADTFEHVIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS 190 200 210 220 230 240 QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD 250 260 270 280 290 300 MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL 310 320 TMDSKKRIGW RFIRIDTSCV CTLTIKRGR
	Isoform 5 [UniParc]. Checksum: B7B42AA52E6C1A9C	FASTA	276	31,116
	10 20 30 40 50 60 MLCAISLCAR VRKLRSAGRC GKFHQVRRVM TILFLTMVIS YFGCMKAAPM KEANIRGQGG 70 80 90 100 110 120 LAYPGVRTHG TLESVNGPKA GSRGLTSLAD TFEHVIEELL DEDQKVRPNE ENNKDADLYT 130 140 150 160 170 180 SRVMLSSQVP LEPPLLFLLE EYKNYLDAAN MSMRVRRHSD PARRGELSVC DSISEWVTAA 190 200 210 220 230 240 DKKTAVDMSG GTVTVLEKVP VSKGQLKQYF YETKCNPMGY TKEGCRGIDK RHWNSQCRTT 250 260 270 QSYVRALTMD SKKRIGWRFI RIDTSCVCTL TIKRGR

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Molecular cloning of a human gene that is a member of the nerve growth factor family." Jones K.R., Reichardt L.F. Proc. Natl. Acad. Sci. U.S.A. 87:8060-8064(1990) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1).
[2]	"Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations." 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. Genomics 10:558-568(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[3]	"Characterization of the 5'-flanking region of the human brain-derived neurotrophic factor gene." Shintani A., Ono Y., Kaisho Y., Igarashi K. Biochem. Biophys. Res. Commun. 182:325-332(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"Human brain derived neurotrophic factor (BDNF) genes, splicing patterns, and assessments of associations with substance abuse and Parkinson's Disease." 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. Am. J. Med. Genet. B Neuropsychiatr. Genet. 134:93-103(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 2 AND 3), ALTERNATIVE SPLICING.
[5]	"Dissecting the human BDNF locus: bidirectional transcription, complex splicing, and multiple promoters." Pruunsild P., Kazantseva A., Aid T., Palm K., Timmusk T. Genomics 90:397-406(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4 AND 5), ALTERNATIVE SPLICING, ALTERNATIVE PROMOTER USAGE, TISSUE SPECIFICITY. Tissue: Brain.
[6]	"A cDNA clone of human brain-derived neurotrophic factor (HUMBDNFD)." Cheng Y., Gu J. Submitted (MAY-1995) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[7]	Wu J., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[8]	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 Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT MET-66.
[9]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Brain.
[10]	"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. , 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].
[11]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[12]	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 Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[13]	"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] (ISOFORM 1). Tissue: Brain.
[14]	"Evolutionary studies of the nerve growth factor family reveal a novel member abundantly expressed in Xenopus ovary." Hallboeoek F., Ibanez C.F., Persson H. Neuron 6:845-858(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 185-227. Tissue: Leukocyte.
[15]	"Purification and identification of brain-derived neurotrophic factor from human serum." Rosenfeld R.D., Zeni L., Haniu M., Talvenheimo J., Radka S.F., Bennett L., Miller J.A., Welcher A.A. Protein Expr. Purif. 6:465-471(1995) [PubMed] [Europe PMC] [Abstract] Cited for: PROTEIN SEQUENCE OF 129-144. Tissue: Serum.
[16]	"Molecular phylogenetics and the origins of placental mammals." Murphy W.J., Eizirik E., Johnson W.E., Zhang Y.-P., Ryder O.A., O'Brien S.J. Nature 409:614-618(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 12-197.
[17]	"Biosynthesis and post-translational processing of the precursor to brain-derived neurotrophic factor." Mowla S.J., Farhadi H.F., Pareek S., Atwal J.K., Morris S.J., Seidah N.G., Murphy R.A. J. Biol. Chem. 276:12660-12666(2001) [PubMed] [Europe PMC] [Abstract] Cited for: CHARACTERIZATION, MUTAGENESIS OF ARG-54.
[18]	"Association of BDNF with anorexia, bulimia and age of onset of weight loss in six European populations." 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. Hum. Mol. Genet. 13:1205-1212(2004) [PubMed] [Europe PMC] [Abstract] Cited for: POLYMORPHISM, ASSOCIATION WITH BULIMIA NERVOSA.
[19]	"Brain-derived neurotrophic factor and obesity in the WAGR syndrome." 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. 359:918-927(2008) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN WAGRO SYNDROME.
[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]	"Structure of the brain-derived neurotrophic factor/neurotrophin 3 heterodimer." Robinson R.C., Radziejewski C., Stuart D.I., Jones E.Y. Biochemistry 34:4139-4146(1995) [PubMed] [Europe PMC] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS).
[22]	"Characterization of single-nucleotide polymorphisms in coding regions of human genes." 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. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MET-66.
[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]	"Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation." Weese-Mayer D.E., Bolk S., Silvestri J.M., Chakravarti A. Am. J. Med. Genet. 107:306-310(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CCHS ILE-2.
[25]	"Sequence variants of the brain-derived neurotrophic factor (BDNF) gene are strongly associated with obsessive-compulsive disorder." Hall D., Dhilla A., Charalambous A., Gogos J.A., Karayiorgou M. Am. J. Hum. Genet. 73:370-376(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MET-66, ROLE OF VARIANT MET-66 IN OBSESSIVE-COMPULSIVE DISORDER.
[26]	"The BDNF val66met polymorphism affects activity-dependent secretion of BDNF and human memory and hippocampal function." 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. Cell 112:257-269(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MET-66, CHARACTERIZATION OF VARIANT MET-66, ROLE IN EPISODIC MEMORY.
[27]	"Molecular analysis of congenital central hypoventilation syndrome." 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. Hum. Genet. 114:22-26(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MET-66.
[28]	"Met66 in the brain-derived neurotrophic factor (BDNF) precursor is associated with anorexia nervosa restrictive type." Ribases M., Gratacos M., Armengol L., de Cid R., Badia A., Jimenez L., Solano R., Vallejo J., Fernandez F., Estivill X. Mol. Psychiatry 8:745-751(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MET-66, ASSOCIATION OF VARIANT MET-66 WITH ANR.
+	Additional computationally mapped references.

Web resources

Wikipedia

BDNF entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M37762 Genomic DNA. Translation: AAA51820.1.
M61176 mRNA. Translation: AAA69805.2.
M61181 Genomic DNA. Translation: AAA96140.1.
X60201 mRNA. Translation: CAA42761.1.
AY054392 mRNA. Translation: AAL23557.2.
AY054393 mRNA. Translation: AAL23558.1.
AY054394 mRNA. Translation: AAL23559.1.
AY054395 mRNA. Translation: AAL23560.1.
AY054396 mRNA. Translation: AAL23561.1.
AY054397 mRNA. Translation: AAL23562.1.
AY054398 mRNA. Translation: AAL23563.1.
AY054399 mRNA. Translation: AAL23564.1.
AY054400 mRNA. Translation: AAL23565.2.
AF411339 Genomic DNA. Translation: AAO15434.1.
EF674517 mRNA. Translation: ABS29021.1.
EF674518 mRNA. Translation: ABS29022.1.
EF674519 mRNA. Translation: ABS29023.1.
EF674520 mRNA. Translation: ABS29024.1.
EF674521 mRNA. Translation: ABS29025.1.
EF689009 mRNA. Translation: ABS32249.1.
EF689010 mRNA. Translation: ABS32250.1.
EF689011 mRNA. Translation: ABS32251.1.
EF689012 mRNA. Translation: ABS32252.1.
EF689013 mRNA. Translation: ABS32253.1.
EF689014 mRNA. Translation: ABS32254.1.
EF689015 mRNA. Translation: ABS32255.1.
EF689016 mRNA. Translation: ABS32256.1.
EF689017 mRNA. Translation: ABS32257.1.
EF689018 mRNA. Translation: ABS32258.1.
EF689019 mRNA. Translation: ABS32259.1.
EF689020 mRNA. Translation: ABS32260.1.
EF689021 mRNA. Translation: ABS32261.1.
X91251 mRNA. Translation: CAA62632.1.
AF400438 mRNA. Translation: AAK92487.1.
AY656701 mRNA. Translation: AAT74399.1.
AK289853 mRNA. Translation: BAF82542.1.
AK289763 mRNA. Translation: BAF82452.1.
AC104563 Genomic DNA. No translation available.
CH471064 Genomic DNA. Translation: EAW68274.1.
CH471064 Genomic DNA. Translation: EAW68278.1.
CH471064 Genomic DNA. Translation: EAW68279.1.
CH471064 Genomic DNA. Translation: EAW68275.1.
CH471064 Genomic DNA. Translation: EAW68276.1.
CH471064 Genomic DNA. Translation: EAW68277.1.
BC029795 mRNA. Translation: AAH29795.1.
AY011481 Genomic DNA. Translation: AAG47514.1.

IPI

IPI00012058.
IPI00336003.
IPI00377232.
IPI00855724.
IPI00917851.

PIR

A40304. B36208.

RefSeq

NP_001137277.1. NM_001143805.1.
NP_001137278.1. NM_001143806.1.
NP_001137279.1. NM_001143807.1.
NP_001137280.1. NM_001143808.1.
NP_001137281.1. NM_001143809.1.
NP_001137282.1. NM_001143810.1.
NP_001137283.1. NM_001143811.1.
NP_001137284.1. NM_001143812.1.
NP_001137285.1. NM_001143813.1.
NP_001137286.1. NM_001143814.1.
NP_001137288.1. NM_001143816.1.
NP_001700.2. NM_001709.4.
NP_733927.1. NM_170731.4.
NP_733928.1. NM_170732.4.
NP_733929.1. NM_170733.3.
NP_733930.1. NM_170734.3.
NP_733931.1. NM_170735.5.

UniGene

Hs.502182.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1B8M	X-ray	2.75	A	129-247	[»]
1BND	X-ray	2.30	A	129-247	[»]

ProteinModelPortal

P23560.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-5719N.

IntAct

P23560. 5 interactions.

PTM databases

PhosphoSite

P23560.

Polymorphism databases

DMDM

114900.

Proteomic databases

PaxDb

P23560.

PRIDE

P23560.

Protocols and materials databases

DNASU

627.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000314915; ENSP00000320002; ENSG00000176697.
ENST00000356660; ENSP00000349084; ENSG00000176697.
ENST00000395978; ENSP00000379302; ENSG00000176697.
ENST00000395980; ENSP00000379304; ENSG00000176697.
ENST00000395981; ENSP00000379305; ENSG00000176697.
ENST00000395983; ENSP00000379307; ENSG00000176697.
ENST00000395986; ENSP00000379309; ENSG00000176697.
ENST00000418212; ENSP00000400502; ENSG00000176697.
ENST00000420794; ENSP00000389564; ENSG00000176697.
ENST00000438929; ENSP00000414303; ENSG00000176697.
ENST00000439476; ENSP00000389345; ENSG00000176697.
ENST00000525528; ENSP00000437138; ENSG00000176697.
ENST00000525950; ENSP00000432035; ENSG00000176697.
ENST00000530861; ENSP00000435564; ENSG00000176697.
ENST00000532997; ENSP00000435805; ENSG00000176697.
ENST00000533131; ENSP00000432727; ENSG00000176697.
ENST00000533246; ENSP00000432376; ENSG00000176697.

GeneID

627.

KEGG

hsa:627.

UCSC

uc001mrt.3. human.
uc001mru.3. human.
uc001msa.3. human.
uc009yje.3. human.
uc009yjf.3. human.

Organism-specific databases

CTD

627.

GeneCards

GC11M027676.

H-InvDB

HIX0035926.

HGNC

HGNC:1033. BDNF.

HPA

CAB009564.

MIM

113505. gene.
209880. phenotype.
610269. phenotype.

neXtProt

NX_P23560.

Orphanet

661. Ondine syndrome.
893. WAGR syndrome.

PharmGKB

PA31891.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG45248.

HOVERGEN

HBG006494.

InParanoid

P23560.

KO

K04355.

OMA

GQGSLAY.

OrthoDB

EOG4R503P.

Enzyme and pathway databases

Pathway_Interaction_DB

trkrpathway. Neurotrophic factor-mediated Trk receptor signaling.
p75ntrpathway. p75(NTR)-mediated signaling.

Gene expression databases

ArrayExpress

P23560.

Bgee

P23560.

CleanEx

HS_BDNF.

Genevestigator

P23560.

GermOnline

ENSG00000176697. Homo sapiens.

Family and domain databases

InterPro

IPR020430. Brain-der_neurotrophic_factor.
IPR020408. Nerve_growth_factor-like.
IPR002072. Nerve_growth_factor-rel.
IPR019846. Nerve_growth_factor_CS.
[Graphical view]

PANTHER

PTHR11589. PTHR11589. 1 hit.

Pfam

PF00243. NGF. 1 hit.
[Graphical view]

PIRSF

PIRSF001789. NGF. 1 hit.

PRINTS

PR01912. BDNFACTOR.
PR00268. NGF.

ProDom

PD002052. Nerve_growth_factor-rel. 1 hit.
[Graphical view] [Entries sharing at least one domain]

SMART

SM00140. NGF. 1 hit.
[Graphical view]

PROSITE

PS00248. NGF_1. 1 hit.
PS50270. NGF_2. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P23560.

GenomeRNAi

627.

NextBio

2530.

PMAP-CutDB

Q6YNR3.

SOURCE

Search...

Entry information

Entry name

BDNF_HUMAN

Accession

Primary (citable) accession number: P23560
Secondary accession number(s): A7LA85 , A7LA92, D3DQZ2, Q598Q1, Q6DN19, Q6YNR2, Q6YNR3, Q9BYY7, Q9UC24

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1991
Last sequence update:	November 1, 1991
Last modified:	May 1, 2013
This is version 145 of the entry and version 1 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.