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MLPH
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PROTEIN STRUCTURE
ANTIBODIES
AND
VALIDATION
Protein structures
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

MLPH
Synonyms exophilin-3, l(1)-3Rk, l1Rk3, ln, Slac-2a
Gene descriptioni

Full gene name according to HGNC.

Melanophilin
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Read more
Disease related genes
Human disease related genes
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Read more
Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband q37.3
Chromosome location (bp) 237485428 - 237555322
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

10
Ensembl ENSG00000115648 (version 103.38)
Entrez gene 79083
HGNC HGNC:29643
UniProt Q9BV36 (UniProt - Evidence at protein level)
neXtProt NX_Q9BV36
Antibodypedia MLPH antibodies


PROTEIN STRUCTUREi

The Structure section provides predicted structures from the Alphafold protein structure database and available experimental structures from Protein Data Bank (PDB).

In the Structure drop-down menu all experimental structures from PDB are available for selection and display. The structures are displayed using the NGL Viewer and can be zoomed-in and rotated either manually or by checking the Autorotate box. The Color scheme can be selected to show the residue index, chain name or confidence score (as B-factors and pLDDT score for experimental and predicted structures, respectively). The positions for available antigen sequences in the structure are shown if Antigens is turned to ON, and the Variants slider can be used to show the positions of clinical and population variants.https://github.com/nglviewer/ngl

Read more

Predicted


Description: Structure prediction from Alphafold project. Structure version 2

# Chains: 1      # Clinical variants: 2      # Population variants: 413

Antigens:

Off
On

Variants:

Off
Clinical
Population

Color scheme:

Confidence
Residue index
Chain name

Autorotate:

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On



PROTEIN BROWSERi

The protein browser displays the antigen location on the target protein(s) and the features of the target protein. The tabs at the top of the protein view section can be used to switch between the different splice variants to which an antigen has been mapped.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

If a signal peptide is predicted by a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius (turquoise) and/or transmembrane regions (orange) are predicted by MDM, these are displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
MLPH-201
MLPH-202
MLPH-203
MLPH-204
MLPH-205
MLPH-206
MLPH-207
MLPH-209
MLPH-210
MLPH-211


PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant UniProt Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MLPH-201
ENSP00000264605
ENST00000264605
Q9BV36 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006886 [intracellular protein transport]
GO:0017022 [myosin binding]
GO:0017137 [Rab GTPase binding]
GO:0030425 [dendrite]
GO:0030674 [protein-macromolecule adaptor activity]
GO:0030864 [cortical actin cytoskeleton]
GO:0031267 [small GTPase binding]
GO:0032402 [melanosome transport]
GO:0046872 [metal ion binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0070062 [extracellular exosome]
Show all
600 aa
65.9 kDa
No 0
MLPH-202
ENSP00000341845
ENST00000338530
Q9BV36 [Direct mapping]
Melanophilin
A0A024R4D3 [Target identity:100%; Query identity:100%]
Melanophilin, isoform CRA_b
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006886 [intracellular protein transport]
GO:0017022 [myosin binding]
GO:0017137 [Rab GTPase binding]
GO:0030425 [dendrite]
GO:0030674 [protein-macromolecule adaptor activity]
GO:0030864 [cortical actin cytoskeleton]
GO:0031267 [small GTPase binding]
GO:0032402 [melanosome transport]
GO:0046872 [metal ion binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0070062 [extracellular exosome]
Show all
572 aa
62.8 kDa
No 0
MLPH-203
ENSP00000386780
ENST00000409373
Q9BV36 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006886 [intracellular protein transport]
GO:0017022 [myosin binding]
GO:0017137 [Rab GTPase binding]
GO:0030425 [dendrite]
GO:0030674 [protein-macromolecule adaptor activity]
GO:0030864 [cortical actin cytoskeleton]
GO:0031267 [small GTPase binding]
GO:0032402 [melanosome transport]
GO:0046872 [metal ion binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0070062 [extracellular exosome]
Show all
480 aa
52.6 kDa
No 0
MLPH-204
ENSP00000386338
ENST00000410032
Q9BV36 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Plasma proteins
Disease related genes
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Mapped to neXtProt
   neXtProt - Evidence at protein level
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003779 [actin binding]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0006886 [intracellular protein transport]
GO:0017022 [myosin binding]
GO:0017137 [Rab GTPase binding]
GO:0030425 [dendrite]
GO:0030674 [protein-macromolecule adaptor activity]
GO:0030864 [cortical actin cytoskeleton]
GO:0031267 [small GTPase binding]
GO:0032402 [melanosome transport]
GO:0046872 [metal ion binding]
GO:0048471 [perinuclear region of cytoplasm]
GO:0070062 [extracellular exosome]
Show all
457 aa
50.7 kDa
No 0
MLPH-205
ENSP00000409897
ENST00000415753
H7C371 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
236 aa
25.8 kDa
No 0
MLPH-206
ENSP00000409170
ENST00000422695
C9JKV5 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006886 [intracellular protein transport]
GO:0017137 [Rab GTPase binding]
Show all
131 aa
15.4 kDa
No 0
MLPH-207
ENSP00000403909
ENST00000429898
C9JI01 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006886 [intracellular protein transport]
GO:0017137 [Rab GTPase binding]
Show all
70 aa
8.2 kDa
No 0
MLPH-209
ENSP00000399081
ENST00000434770
H7C190 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
145 aa
16 kDa
No 0
MLPH-210
ENSP00000405337
ENST00000436965
H7C2D8 [Direct mapping]
Melanophilin
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
203 aa
22.1 kDa
No 0
MLPH-211
ENSP00000412438
ENST00000437893
H7C3K9 [Direct mapping]
Melanophilin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Immune system diseases
   Primary immunodeficiency
Protein evidence (Ezkurdia et al 2014)
Show all
360 aa
39.5 kDa
No 0

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The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg Foundation.