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P34130 (NTF4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 134. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Neurotrophin-4

Short name=NT-4
Alternative name(s):
Neurotrophin-5
Short name=NT-5
Neutrophic factor 4
Gene names
Name:NTF4
Synonyms:NTF5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length210 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Target-derived survival factor for peripheral sensory sympathetic neurons.

Subcellular location

Secreted.

Tissue specificity

Highest levels in prostate, lower levels in thymus, placenta, and skeletal muscle. Expressed in embryonic and adult tissues.

Involvement in disease

Glaucoma 1, open angle, O (GLC1O) [MIM:613100]: A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.
Note: Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Sequence similarities

Belongs to the NGF-beta family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2424 Potential
Propeptide25 – 8056
PRO_0000019669
Chain81 – 210130Neurotrophin-4
PRO_0000019670

Amino acid modifications

Glycosylation761N-linked (GlcNAc...) Potential
Disulfide bond97 ↔ 170
Disulfide bond141 ↔ 199
Disulfide bond158 ↔ 201

Natural variations

Natural variant71C → Y in a patient with primary open-angle glaucoma; uncertain pathological significance. Ref.7
VAR_063196
Natural variant841E → K in a patient with primary open-angle glaucoma; uncertain pathological significance. Ref.7
VAR_063197
Natural variant881A → V. Ref.7 Ref.8
VAR_063198
Natural variant891S → N. Ref.8
VAR_063199
Natural variant901R → C. Ref.8
VAR_063200
Natural variant901R → H in a patient with primary open-angle glaucoma; uncertain pathological significance. Ref.7
VAR_063201
Natural variant1141R → G. Ref.8
VAR_063202
Natural variant1331R → H. Ref.8
VAR_063203
Natural variant1401R → C. Ref.8
VAR_063204
Natural variant2061R → Q in a patient with primary open-angle glaucoma; uncertain pathological significance. Ref.7
VAR_063205
Natural variant2061R → W in patients with primary open-angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth. Ref.7 Ref.8
VAR_063206
Natural variant2071T → I. Ref.8
VAR_063207
Natural variant2071T → S. Ref.7
VAR_063208
Natural variant2091R → G in a patient with primary open-angle glaucoma; uncertain pathological significance. Ref.7
VAR_063209

Secondary structure

............................ 210
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
P34130 [UniParc].

Last modified February 1, 1994. Version 1.
Checksum: DBC6A30195E139AD

FASTA21022,427
        10         20         30         40         50         60 
MLPLPSCSLP ILLLFLLPSV PIESQPPPST LPPFLAPEWD LLSPRVVLSR GAPAGPPLLF 

        70         80         90        100        110        120 
LLEAGAFRES AGAPANRSRR GVSETAPASR RGELAVCDAV SGWVTDRRTA VDLRGREVEV 

       130        140        150        160        170        180 
LGEVPAAGGS PLRQYFFETR CKADNAEEGG PGAGGGGCRG VDRRHWVSEC KAKQSYVRAL 

       190        200        210 
TADAQGRVGW RWIRIDTACV CTLLSRTGRA 

« Hide

References

« Hide 'large scale' references
[1]"Neurotrophin-5: a novel neurotrophic factor that activates trk and trkB."
Berkemeier L.R., Winslow J.W., Kaplan D.R., Nikolics K., Goeddel D.V., Rosenthal A.
Neuron 7:857-866(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"Mammalian neurotrophin-4: structure, chromosomal localization, tissue distribution, and receptor specificity."
Ip N.Y., Ibanez C.F., Nye S.H., McClain J., Jones P.F., Gies D.R., Belluscio L., le Beau M.M., Espinosa R. III, Squinto S.P., Persson H., Yancopoulos G.D.
Proc. Natl. Acad. Sci. U.S.A. 89:3060-3064(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
Tissue: Prostate.
[3]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[4]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]"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].
Tissue: Ovary.
[6]"The structures of the neurotrophin 4 homodimer and the brain-derived neurotrophic factor/neurotrophin 4 heterodimer reveal a common Trk-binding site."
Robinson R.C., Radziejewski C., Spraggon G., Greenwald J., Kostura M.R., Burtnick L.D., Stuart D.I., Choe S., Jones E.Y.
Protein Sci. 8:2589-2597(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.75 ANGSTROMS).
[7]"Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma."
Pasutto F., Matsumoto T., Mardin C.Y., Sticht H., Brandstatter J.H., Michels-Rautenstrauss K., Weisschuh N., Gramer E., Ramdas W.D., van Koolwijk L.M., Klaver C.C., Vingerling J.R., Weber B.H., Kruse F.E., Rautenstrauss B., Barde Y.A., Reis A.
Am. J. Hum. Genet. 85:447-456(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TYR-7; LYS-84; VAL-88; HIS-90; TRP-206; GLN-206; SER-207 AND GLY-209, CHARACTERIZATION OF VARIANT TRP-206, INVOLVEMENT IN SUSCEPTIBILITY TO GLAUCOMA.
[8]"No evidence of association of heterozygous NTF4 mutations in patients with primary open-angle glaucoma."
Liu Y., Liu W., Crooks K., Schmidt S., Allingham R.R., Hauser M.A.
Am. J. Hum. Genet. 86:498-499(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS VAL-88; ASN-89; CYS-90; GLY-114; HIS-133; CYS-140; TRP-206 AND ILE-207, DISCUSSION OF ASSOCIATION WITH GLAUCOMA.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M86528 Genomic DNA. Translation: AAA60154.1.
BT019368 mRNA. Translation: AAV38175.1.
BT019369 mRNA. Translation: AAV38176.1.
CR541900 mRNA. Translation: CAG46698.1.
BC012421 mRNA. Translation: AAH12421.1.
CCDSCCDS12754.1.
PIRA42687.
RefSeqNP_006170.1. NM_006179.4.
XP_005259019.1. XM_005258962.1.
XP_006723295.1. XM_006723232.1.
UniGeneHs.266902.
Hs.743915.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1B8MX-ray2.75B81-210[»]
1B98X-ray2.75A/M81-210[»]
1HCFX-ray2.70A/B81-210[»]
ProteinModelPortalP34130.
SMRP34130. Positions 85-208.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110964. 2 interactions.
IntActP34130. 1 interaction.
MINTMINT-1508589.
STRING9606.ENSP00000301411.

Proteomic databases

PaxDbP34130.
PRIDEP34130.

Protocols and materials databases

DNASU4909.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000301411; ENSP00000301411; ENSG00000225950.
ENST00000593537; ENSP00000469455; ENSG00000225950.
GeneID4909.
KEGGhsa:4909.
UCSCuc002pmf.4. human.

Organism-specific databases

CTD4909.
GeneCardsGC19M049564.
HGNCHGNC:8024. NTF4.
MIM162662. gene.
613100. phenotype.
neXtProtNX_P34130.
Orphanet353225. Primary adult open-angle glaucoma.
PharmGKBPA162398206.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG42623.
HOGENOMHOG000231516.
HOVERGENHBG006494.
InParanoidP34130.
KOK12457.
OMARIRNGVF.
PhylomeDBP34130.
TreeFamTF106463.

Gene expression databases

BgeeP34130.
CleanExHS_NTF4.
GenevestigatorP34130.

Family and domain databases

Gene3D2.10.90.10. 1 hit.
InterProIPR029034. Cystine-knot_cytokine.
IPR020408. Nerve_growth_factor-like.
IPR002072. Nerve_growth_factor-rel.
IPR019846. Nerve_growth_factor_CS.
IPR020432. Neurotrophin-4.
[Graphical view]
PANTHERPTHR11589. PTHR11589. 1 hit.
PfamPF00243. NGF. 1 hit.
[Graphical view]
PIRSFPIRSF001789. NGF. 1 hit.
PRINTSPR01915. NEUROTROPHN4.
PR00268. NGF.
ProDomPD002052. Nerve_growth_factor-rel. 1 hit.
[Graphical view] [Entries sharing at least one domain]
SMARTSM00140. NGF. 1 hit.
[Graphical view]
SUPFAMSSF57501. SSF57501. 1 hit.
PROSITEPS00248. NGF_1. 1 hit.
PS50270. NGF_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceP34130.
GenomeRNAi4909.
NextBio18893.
PROP34130.
SOURCESearch...

Entry information

Entry nameNTF4_HUMAN
AccessionPrimary (citable) accession number: P34130
Secondary accession number(s): Q6FH56
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 1994
Last sequence update: February 1, 1994
Last modified: July 9, 2014
This is version 134 of the entry and version 1 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 19

Human chromosome 19: entries, gene names and cross-references to MIM