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AIFM1
HPA
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Brain region
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Brain region
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Tau score
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  • SUMMARY

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  • STRUCT & INT

  • AIFM1
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.

AIFM1
Synonyms AIF, AUNX1, CMTX4, DFNX5, NAMSD, PDCD8
Gene descriptioni

Full gene name according to HGNC.

Apoptosis inducing factor mitochondria associated 1
Protein classi

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

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.

Membrane, 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.

Proximal tubular cells - Amino acid metabolism (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 (Cardiomyocytes, Proximal tubular cells)
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.

Non-specific - Mitochondrial translation (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.

Low tissue specificity
Subcellular locationi

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

Localized to the Mitochondria In addition localized to the Connecting piece
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 X
Cytoband q26.1
Chromosome location (bp) 130124666 - 130165879
Number of transcriptsi

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

14
Ensembl ENSG00000156709 (version 109)
Entrez gene 9131
HGNC HGNC:8768
UniProt O95831 (UniProt - Evidence at protein level)
neXtProt NX_O95831
GeneCards AIFM1
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.
«
AIFM1-201
AIFM1-202
AIFM1-203
AIFM1-205
AIFM1-209
AIFM1-210
AIFM1-214
AIFM1-221
AIFM1-223
AIFM1-224
AIFM1-226
AIFM1-229
AIFM1-230
AIFM1-231
»

Description:

Color scheme:
Confidence
Residue index
Your selection
Variants:
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Population
Clinical
Alphamissense variants:
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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)
AIFM1-201
O95831
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
613 aa
66.9 kDa
No 0
AIFM1-202
A0A7I2PK44
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
611 aa
66.7 kDa
No 0
AIFM1-203
O95831
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
326 aa
35.6 kDa
No 0
AIFM1-205
E9PMA0
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
274 aa
29.9 kDa
No 0
AIFM1-209
O95831
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
324 aa
35.4 kDa
No 0
AIFM1-210
A0A6Q8PFS4
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
589 aa
64.3 kDa
No 0
AIFM1-214
A0A6Q8PHJ4
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
229 aa
25 kDa
No 0
AIFM1-221
A0A6Q8PFE1
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
622 aa
68 kDa
No 0
AIFM1-223
A0A6Q8PFQ8
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
565 aa
61.5 kDa
No 0
AIFM1-224
A0A6Q8PFM5
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
612 aa
66.8 kDa
No 0
AIFM1-226
A0A6Q8PHJ9
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
611 aa
66.7 kDa
No 1
AIFM1-229
O95831
Show all
Predicted membrane proteins
Plasma proteins
Disease related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
609 aa
66.3 kDa
No 1
AIFM1-230
A0A6Q8PG15
Show all
Predicted intracellular proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
612 aa
66.8 kDa
No 0
AIFM1-231
A0A6Q8PHC0
Show all
Predicted membrane proteins
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
609 aa
66.5 kDa
No 1
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, Non-specific - Mitochondrial translation

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: 3
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
EIF3G2012296810
MLF2782003
TSC22D4103112118
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 5 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
EIF3G2012296810
KANK24153630
MLF2782003
PPIA3113332
TSC22D4103112118
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 139
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ACOT101501
ACOT200601
AFG3L2012201
AK207720
AKAP1715837
APOOL00900
ARAF181465114
ATAD3A033110
ATAD3B001508
ATP5F1B91371115
ATP5F1C224310
ATPAF121904
AURKB131896318
BAG68116660
C12orf7300201
CAND1774506
CD274254304
CDCA3341606
CHCHD36382838
CHCHD401600
CLPB241840
CLPP21921105
CLPX111315
CMC400200
COA70113018
COX15012600
COX4I12510521
COX6B101700
CPOX00400
CUL3364168420
CUL5271779026
DARS22139129
DIABLO8252430
DLD263712
DNAJC117320110
EIF3G2012296810
ENDOG32718
ERAL11513035
ERBB314196301
ESR1325747300
ETFA441906
FAM136A08518
GART001300
GFER15506
GLS111800
GLUD11115211
GRPEL1141502
HAX14123000
HCCS08607
HECTD1219224
HIGD2A00100
HK124730
HSD17B10554330
HSPA1A1731300
HSPA991272412
HSPE1021620
HTRA25554010
IARS2002362
ILK12185646
IMMT8115720
KIAA119101300
LACTB0111018
LETM1038816
MAVS16256702
MICU114300
MICU212309
MIX2300400
MLF2782003
MLH127555004
MRPS2415028183
MRPS3117233243
MT-CO2371801
MTHFD1L00734
MTIF212040020
NDUFA13549034
NDUFA8321913
NDUFAF410418020
NDUFB106617410
NDUFS510416238
NDUFS614124050
NUDT1910703
OCIAD1174106
OMA100403
OPA1251600
OTUB113435306
OTUD1002100
OXSR13413533
PARL00400
PGAM5212020
PHB12712610
POLDIP2141818
PPIF113840
PRKN1111140500
RAF13140196140
RHOT24416115
RPA171041711
RPA2111537520
RPA35631311
SAMM504423119
SCO201605
SEC16A6557100
SERPINH10272140
SFXN12159029
SHMT24113003
SLC25A12121406
SLC25A13111808
SLC25A2500300
SLC25A5113022
SMIM1201500
SNAP292726411557
SNRNP701611164110
STIP1132187166
SUCLG111600
SUCLG212700
TACO1015700
TDRKH04600
TIMM13121411
TIMM2923402
TIMM44051230
TIMM50331810
TIMM8A113500
TIMM8B00411
TIMMDC165311041
TOMM223530121
TOMM4092361126
TOMM70001650
TOR1AIP1272208
TRIAP123513
TRMT10C11911
TSC22D4103112118
TTC19237709
TUBB201883082
TUFM156003
TXN7262331
UNC93B142422022
USP3001600
VDAC191576222
XIAP27428328
YME1L1001200
Show allShow less
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 3
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
HEATR32054411
PHGDH2129250
RTN4231345660
AIFM1 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.

AIFM1 is not a metabolic protein

Contact

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


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