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MDFI
HPA
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Main location
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Annotation
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Category
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Category
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Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
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Cell type
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Interacting gene (ensg_id)
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  • SUMMARY

  • TISSUE

  • BRAIN

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  • SUBCELL

  • CANCER

  • BLOOD

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  • STRUCT & INT

  • MDFI
STRUCTURE & INTERACTION STRUCTURE INTERACTION
Protein structures
Protein interactions
Human metabolism
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.

MDFI
Synonyms I-mfa
Gene descriptioni

Full gene name according to HGNC.

MyoD family inhibitor
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.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Cytotrophoblasts - Mitochondria (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enhanced (Cytotrophoblasts, Extravillous trophoblasts, Syncytiotrophoblasts)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Epithelium - Extracellular exosomes (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Tissue enhanced (Esophagus)
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
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 6
Cytoband p21.1
Chromosome location (bp) 41636882 - 41654244
Number of transcriptsi

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

8
Ensembl ENSG00000112559 (version 109)
Entrez gene 4188
HGNC HGNC:6967
UniProt Q99750 (UniProt - Evidence at protein level)
neXtProt NX_Q99750
GeneCards MDFI
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

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).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also 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.
MDFI-201
MDFI-202
MDFI-203
MDFI-204
MDFI-205
MDFI-206
MDFI-207
MDFI-208

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
Off
Population
Clinical
Alphamissense variants:
Off
Benign
Pathogenic
Autorotate:
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PROTEIN INFORMATIONi

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

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
MDFI-201
Q99750
Show all
A0A024RCY2
Show all
Predicted intracellular proteins
Mapped to neXtProt
Show all
246 aa
25 kDa
No 0
MDFI-202
B1AKB6
Show all
Predicted intracellular proteins
Show all
185 aa
18.9 kDa
No 0
MDFI-203
Q99750
Show all
A0A024RCY2
Show all
Predicted intracellular proteins
Mapped to neXtProt
Show all
246 aa
25 kDa
No 0
MDFI-204
B1AKB7
Show all
Predicted intracellular proteins
Show all
231 aa
23.4 kDa
No 0
MDFI-205
B1AKB8
Show all
Predicted intracellular proteins
Show all
213 aa
21.6 kDa
No 0
MDFI-206
B1AKB9
Show all
Predicted intracellular proteins
Show all
142 aa
14.5 kDa
No 0
MDFI-207
B1AKC1
Show all
Predicted intracellular proteins
Show all
98 aa
9.7 kDa
No 0
MDFI-208
B1AKC0
Show all
Predicted intracellular proteins
Show all
128 aa
12.7 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

Filter menu »
Fields »
e.g. Brain enriched, Localized to mitochondria, Epithelium - Extracellular exosomes

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 29
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
APLN11100
AQP11106200
ATOSB151100
C10orf6229200
CBFA2T224700
CCDC1208911305
DCAF6242610
DCAF85915610
ENKD15161500
FAM124B224200
GNAI23112300
HTR1B121039
IQUB156100
METTL178113100
NEU433400
NUFIP2166326332
OTX14119400
PBXIP1313910
PRKAB2381265014
PRPF31131205700
RABL622900
SIX147641
SLC25A1016900
VPS72952289
ZBTB25424403
ZNF55938400
ZNF60722210
ZNF696330311
ZNF707373014
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 278 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AANAT03103
ADAMTSL3013000
ADRA2C010000
AGXT029100
APLN11100
AQP11106200
AQP505002
ARHGAP329102660
ARID5A296200
ARMC7259200
ATOSB151100
ATP5F1D371503
AVPI1029004
AXIN112403820
B3GNT901000
BAG31758127015
BAHD1354620
BBS2519709
BCAM06211
BCL63403800
BEX1012100
BEX2068300
BEX3025200
C10orf6229200
C1orf216169100
C22orf39036000
C4orf45016000
C8orf33320720
C8orf48017000
CATSPER1195100
CBFA2T224700
CBLL207007
CBX2382362
CBX822783555
CC2D1B11110
CCDC116024000
CCDC1208911305
CCDC185034002
CCDC198016000
CDC37651271711928
CDC42EP1241220
CDCA7L452800
CDKL3023000
CEP57L1027100
CHP212200
CLPB241840
CNNM32601510
CRACR2A033100
CRH112107
CTRC013000
CYBA134022
DBF4B02100
DCAF6242610
DCAF85915610
DCANP103003
DHRS1026004
DKK123302
DMRT3066000
DNAJB1309100
DNMT3A6143411
DOCK2036100
DYNLT401106
EFEMP2483600
EIF4E283613511
ELOA2382010
ENKD15161500
ETNK204003
FAM120AOS01000
FAM124B224200
FAM161A3118400
FAM161B054000
FAM90A13128601
FARS2158202
FBXO34018501
FES14600
FEZF106000
FNDC112372013
FOXD4042017
FOXD4L1018100
FOXD4L3014000
FOXD4L60150025
GABRD13108
GATA25251600
GDF15050025
GLRX312811663
GNAI23112300
GNG5375910
GPANK1165102
GPATCH2L419430
GREM104000
GTF3C5361540
HAPLN2037000
HASPIN13502
HEYL15102
HHEX024300
HNRNPLL48820
HOXB9243710
HPCAL1432909
HTR1B121039
IFRD223202
IQUB156100
JOSD1124300
KAT5171808730
KLHL38072000
KPNA2303680437
KRT7716200
LASP11221200
LCE1A059000
LCE1B870900
LCE1D047000
LCE1F062000
LCE2B056000
LCE3A055100
LCE3C047000
LCE3D045000
LCE3E047000
LCE4A163100
LIN7A412933
LRCH4315410
MACIR66765
MAGED16802420
MAGEF112207
MAPK11934122512
MAPKBP1049020
MBD3L208900
MEOX241581000
METTL178113100
MYPOP033000
NDUFA77512033
NECTIN23101210
NEU433400
NIBAN302000
NKD1011000
NPDC1027106
NR1H2351300
NR1H38101100
NUBP21115022
NUFIP2166326332
ODAPH030010
ODF107200
ODF3B08000
OLIG3025000
OTX14119400
PBXIP1313910
PDGFB241100
PDIA5031019
PELI2217900
PHF11453000
PHLDA134504
PID109200
PIDD1121000
PIH1D2064000
PIN1161145902
PITX15511201
PKD2213307
PLEKHG40501015
PRKAB2381265014
PRPF18163100
PRPF31131205700
PTK7061320
PTPMT1025500
RABL622900
RAC13260109150
RASD1024200
REG3A01004
REX1BD113101
RHOXF27521100
RIN110381500
RIPPLY1128106
RTP5049000
SAPCD2111101
SCAMP4016110
SCNM12148330
SELENOM010000
SHFL126100
SHMT106300
SIX147641
SLC13A5017000
SLC15A305100
SLC25A1016900
SMYD1724701
SNX18015500
SOCS7312602
SPG70180023
SPON102002
SPRED2238608
SPRY1359400
SPRY28511605
SUOX067001
TACO1015700
TASOR2136303
TBC1D3G08000
TEDC207000
TGIF1412800
THAP7147403
THEG05100
TIE107000
TNNI1130300
TNP207106
TOR1A48639
TRIB34552601
TSFM382016
TSGA10IP083000
TSPAN4030000
TSPYL6010300
TTC23017100
TTLL10010000
TUSC2243027
TXN2160613
TYRO3113901
USP205402101
USP601500
VASN043002
VHL101412320
VPS72952289
VSTM409000
WNT11017010
YY1194784176
ZBTB24352606
ZBTB25424403
ZBTB42038104
ZBTB9129304
ZC3HAV110458776
ZDHHC1014000
ZIM2026006
ZNF10107001
ZNF1205000
ZNF124045100
ZNF13627201
ZNF138017000
ZNF15504000
ZNF22103000
ZNF22306000
ZNF23014000
ZNF23006000
ZNF264214201
ZNF26609000
ZNF330243401
ZNF408552700
ZNF4140430023
ZNF4173140311
ZNF43325200
ZNF438050000
ZNF439219300
ZNF440126201
ZNF44107000
ZNF46101000
ZNF47905000
ZNF490123102
ZNF49108000
ZNF497042000
ZNF512B5101614
ZNF5240220023
ZNF55938400
ZNF564230202
ZNF572058000
ZNF575023000
ZNF578012000
ZNF580015000
ZNF581382403
ZNF5870102000
ZNF60722210
ZNF61304000
ZNF64604000
ZNF648050000
ZNF669115102
ZNF670319311
ZNF67904000
ZNF696330311
ZNF707373014
ZNF7643263016
ZNF78406005
ZNF785113200
ZNF78609100
ZNF7907000
ZNF837068000
ZNF844011000
ZNHIT182210211
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 40
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AKAP17A09210
APLN11100
AQP11106200
ATOSB151100
BANP5591900
C10orf6229200
CBFA2T224700
CCDC1208911305
DCAF6242610
DCAF85915610
ENKD15161500
FAM124B224200
FBXL1811800
GATA13102200
GNAI23112300
HOXA1001800
HTR1B121039
HYPK451703
IQUB156100
METTL178113100
MYF5118300
MYOD1063300
MYOG228600
NEU433400
NUFIP2166326332
OTX14119400
PBXIP1313910
PGLS02200
PRKAB2381265014
PRPF31131205700
RABL622900
SIX147641
SLC25A1016900
TRPV601300
VPS72952289
ZBTB25424403
ZNF55938400
ZNF60722210
ZNF696330311
ZNF707373014
Show allShow less
MDFI has no defined protein interactions in OpenCell.
MDFI has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

MDFI is not a metabolic protein

Contact

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


contact@proteinatlas.org