Human Gene MANF (ENST00000528157.7_6) from GENCODE V47lift37
  Description: mesencephalic astrocyte derived neurotrophic factor (from RefSeq NM_006010.6)
Gencode Transcript: ENST00000528157.7_6
Gencode Gene: ENSG00000145050.19_10
Transcript (Including UTRs)
   Position: hg19 chr3:51,422,722-51,426,828 Size: 4,107 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr3:51,422,774-51,426,520 Size: 3,747 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:51,422,722-51,426,828)mRNA (may differ from genome)Protein (182 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MANF_HUMAN
DESCRIPTION: RecName: Full=Mesencephalic astrocyte-derived neurotrophic factor; AltName: Full=Arginine-rich protein; AltName: Full=Protein ARMET; Flags: Precursor;
FUNCTION: Selectively promotes the survival of dopaminergic neurons of the ventral mid-brain. Modulates GABAergic transmission to the dopaminergic neurons of the substantia nigra. Enhances spontaneous, as well as evoked, GABAergic inhibitory postsynaptic currents in dopaminergic neurons (By similarity). Inhibits cell proliferation and endoplasmic reticulum (ER) stress-induced cell death.
SUBCELLULAR LOCATION: Secreted.
INDUCTION: By endoplasmic reticulum stress.
DOMAIN: The N-terminal region may be responsible for neurotrophic activity while the C-terminal region may play a role in the ER stress response.
PTM: May contain sialic acid residues.
SIMILARITY: Belongs to the ARMET family.
CAUTION: Was originally (PubMed:8649854, PubMed:8971156 and PubMed:9174057) thought to be much longer and included an arginine-rich region thought to be the target of cancer-causing mutations. All these mutations are in what is now thought to be the 5'-UTR of the mRNA.
CAUTION: It is uncertain whether Met-1 or Met-4 is the initiator.
SEQUENCE CAUTION: Sequence=AAB08753.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI13589.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=AAI13591.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MANF
Diseases sorted by gene-association score: metaphyseal chondrodysplasia, schmid type (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.04 RPKM in Thyroid
Total median expression: 897.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -5.0052-0.096 Picture PostScript Text
3' UTR -82.70308-0.269 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR019345 - Armet_prot

Pfam Domains:
PF10208 - ARMET, C-terminal
PF20145 - ARMET, N-terminal

SCOP Domains:
68906 - SAP domain
68912 - Rho N-terminal domain-like
47862 - Saposin

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2KVD - NMR MuPIT 2KVE - NMR MuPIT 2W51 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P55145
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0008083 growth factor activity
GO:0008289 lipid binding

Biological Process:
GO:0002576 platelet degranulation
GO:0006986 response to unfolded protein
GO:0010469 regulation of receptor activity
GO:0031175 neuron projection development
GO:0071542 dopaminergic neuron differentiation

Cellular Component:
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  M83751 - Human arginine-rich protein (ARP) gene, complete cds.
BC113590 - Homo sapiens arginine-rich, mutated in early stage tumors, mRNA (cDNA clone MGC:142150 IMAGE:8322642), complete cds.
BC113588 - Homo sapiens arginine-rich, mutated in early stage tumors, mRNA (cDNA clone MGC:142148 IMAGE:8322640), complete cds.
AK292243 - Homo sapiens cDNA FLJ77177 complete cds, highly similar to Homo sapiens arginine-rich, mutated in early stage tumors (ARMET), mRNA.
HQ258742 - Synthetic construct Homo sapiens clone IMAGE:100072772 mesencephalic astrocyte-derived neurotrophic factor (MANF) gene, encodes complete protein.
KJ897790 - Synthetic construct Homo sapiens clone ccsbBroadEn_07184 MANF gene, encodes complete protein.
KJ892444 - Synthetic construct Homo sapiens clone ccsbBroadEn_01838 MANF gene, encodes complete protein.
BC007282 - Homo sapiens arginine-rich, mutated in early stage tumors, mRNA (cDNA clone IMAGE:3343642), partial cds.
BT007110 - Homo sapiens arginine-rich, mutated in early stage tumors mRNA, complete cds.
EU832655 - Synthetic construct Homo sapiens clone HAIB:100067684; DKFZo008F0631 arginine-rich, mutated in early stage tumors protein (ARMET) gene, encodes complete protein.
EU832733 - Synthetic construct Homo sapiens clone HAIB:100067762; DKFZo004F0632 arginine-rich, mutated in early stage tumors protein (ARMET) gene, encodes complete protein.
BC033055 - Homo sapiens arginine-rich, mutated in early stage tumors, mRNA (cDNA clone IMAGE:5262063), with apparent retained intron.
DQ598945 - Homo sapiens piRNA piR-37011, complete sequence.
JD137750 - Sequence 118774 from Patent EP1572962.
JD377558 - Sequence 358582 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P55145 (Reactome details) participates in the following event(s):

R-HSA-482772 Release of platelet cytosolic components
R-HSA-114608 Platelet degranulation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: ARMET, ARP, ENST00000528157.1, ENST00000528157.2, ENST00000528157.3, ENST00000528157.4, ENST00000528157.5, ENST00000528157.6, MANF , MANF_HUMAN, NM_006010, P55145, Q14CX4, Q86U67, Q96IS4, uc324ehh.1, uc324ehh.2
UCSC ID: ENST00000528157.7_6
RefSeq Accession: NM_006010.6
Protein: P55145 (aka MANF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.