Details for: AIFM1

Gene ID: 9131

Symbol: AIFM1

Ensembl ID: ENSG00000156709

Description: apoptosis inducing factor mitochondria associated 1

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.77
    Marker Score: 2,551
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.5
    Marker Score: 5,332
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.46
    Marker Score: 168,043
  • Cell Name: B-2 B cell (CL0000822)
    Fold Change: 1.43
    Marker Score: 1,762
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.36
    Marker Score: 1,251
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.27
    Marker Score: 4,994
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.23
    Marker Score: 831
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.16
    Marker Score: 286
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.15
    Marker Score: 1,902
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.13
    Marker Score: 1,414
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.13
    Marker Score: 561
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.12
    Marker Score: 38,632
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.1
    Marker Score: 733
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 1.02
    Marker Score: 2,728
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.01
    Marker Score: 4,824
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,719
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,943
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,394
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.95
    Marker Score: 274
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.94
    Marker Score: 645
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2,399
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.94
    Marker Score: 1,388
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.94
    Marker Score: 1,244
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.93
    Marker Score: 1,005
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 436
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5,247
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.91
    Marker Score: 14,289
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.91
    Marker Score: 963
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.91
    Marker Score: 1,894
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2,704
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.89
    Marker Score: 2,196
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.89
    Marker Score: 895
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.87
    Marker Score: 1,349
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,290
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.87
    Marker Score: 2,480
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.87
    Marker Score: 203
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 309
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.86
    Marker Score: 907
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.85
    Marker Score: 2,022
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.84
    Marker Score: 2,130
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 0.81
    Marker Score: 2,543
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.78
    Marker Score: 782
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1,256
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.77
    Marker Score: 578
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.77
    Marker Score: 286
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 586
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.76
    Marker Score: 306
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.76
    Marker Score: 2,057
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.74
    Marker Score: 7,640
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.73
    Marker Score: 535
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.73
    Marker Score: 1,667
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.72
    Marker Score: 399
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.72
    Marker Score: 2,948
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.71
    Marker Score: 4,514
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.71
    Marker Score: 998
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.7
    Marker Score: 25,692
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.68
    Marker Score: 618
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.68
    Marker Score: 7,855
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.67
    Marker Score: 2,827
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 0.67
    Marker Score: 162
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.67
    Marker Score: 5,727
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.66
    Marker Score: 170
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.66
    Marker Score: 1,791
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.65
    Marker Score: 40,008
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.65
    Marker Score: 4,156
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.65
    Marker Score: 689
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.65
    Marker Score: 1,470
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.64
    Marker Score: 14,264
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.64
    Marker Score: 426
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.64
    Marker Score: 404
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.63
    Marker Score: 189
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.63
    Marker Score: 847
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.63
    Marker Score: 366
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.62
    Marker Score: 1,471
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 0.62
    Marker Score: 4,047
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.62
    Marker Score: 397
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.62
    Marker Score: 5,857
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.61
    Marker Score: 1,343
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.61
    Marker Score: 298
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.61
    Marker Score: 320
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.6
    Marker Score: 282
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.6
    Marker Score: 630
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.6
    Marker Score: 172
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.6
    Marker Score: 618
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.59
    Marker Score: 393
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.59
    Marker Score: 718
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.59
    Marker Score: 157
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 0.59
    Marker Score: 2,540
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.59
    Marker Score: 597
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.59
    Marker Score: 649
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.59
    Marker Score: 1,739
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.59
    Marker Score: 829
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.59
    Marker Score: 290
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.58
    Marker Score: 286
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.58
    Marker Score: 318
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 0.58
    Marker Score: 927
  • Cell Name: hematopoietic multipotent progenitor cell (CL0000837)
    Fold Change: 0.58
    Marker Score: 281
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.57
    Marker Score: 562

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** AIFM1 is a mitochondrial protein that consists of 304 amino acids and is encoded by the AIFM1 gene (ENSG00000156709). It is a member of the apoptosis-inducing factor family and is characterized by its ability to induce apoptosis in response to various cellular stresses, including DNA damage, oxidative stress, and endoplasmic reticulum stress. AIFM1 is also involved in the regulation of mitochondrial function, including the regulation of the mitochondrial respiratory chain complex assembly and the regulation of mitochondrial membrane potential. AIFM1 is highly expressed in cells that undergo rapid division, such as oogonial cells, epithelial cells of the proximal tubule, and mural cells. It is also highly expressed in cells that are involved in immune responses, such as B-2 B cells and choroid plexus epithelial cells. AIFM1 is also involved in the regulation of apoptosis in neurons and has been implicated in neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. **Pathways and Functions** AIFM1 plays a crucial role in the regulation of apoptotic signaling pathways, including the intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. It is also involved in the regulation of mitochondrial function, including the regulation of the mitochondrial respiratory chain complex assembly and the regulation of mitochondrial membrane potential. AIFM1's function can be summarized in the following pathways: 1. **Apoptosis signaling pathway**: AIFM1 is involved in the regulation of apoptotic signaling pathways, including the intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress. 2. **Mitochondrial function regulation**: AIFM1 is involved in the regulation of mitochondrial function, including the regulation of the mitochondrial respiratory chain complex assembly and the regulation of mitochondrial membrane potential. 3. **DNA fragmentation regulation**: AIFM1 is involved in the regulation of DNA fragmentation, which is a critical step in the apoptotic process. **Clinical Significance** Dysregulation of AIFM1 has been implicated in various diseases, including: 1. **Neurodegenerative disorders**: AIFM1 has been implicated in neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 2. **Cancer**: AIFM1 has been implicated in cancer, including leukemia and lymphoma. 3. **Cardiovascular diseases**: AIFM1 has been implicated in cardiovascular diseases, including atherosclerosis and heart failure. 4. **Autoimmune diseases**: AIFM1 has been implicated in autoimmune diseases, including rheumatoid arthritis and lupus. In conclusion, AIFM1 is a critical protein that plays a crucial role in regulating apoptosis and mitochondrial function. Its dysregulation has been implicated in various diseases, highlighting the importance of AIFM1 in maintaining cellular homeostasis. Further research is needed to fully understand the role of AIFM1 in human disease and to develop therapeutic strategies to target its dysregulation.

Genular Protein ID: 2036113459

Symbol: AIFM1_HUMAN

Name: Programmed cell death protein 8

UniProtKB Accession Codes:

O95831 A4QPB4 B1ALN1 B2RB08 D3DTE9 E9PRR0 Q1L6K4 Q1L6K6 Q2QKE4 Q5JUZ7 Q6I9X6 Q9Y3I3 Q9Y3I4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CORUM 1 CarbonylDB 1 ChEBI 29 ChEMBL 1 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 17 EPD 1 Ensembl 8 EvolutionaryTrace 1 ExpressionAtlas 1 GO 35 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 23 PDBsum 12 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 6 Pumba 1 REPRODUCTION-2DPAGE 1 RNAct 1 RefSeq 4 Rhea 2 SABIO-RK 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCD-2DPAGE 1 UCSC 2 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9989411

Title: Molecular characterization of mitochondrial apoptosis-inducing factor.

PubMed ID: 9989411

DOI: 10.1038/17135

PubMed ID: 16365034

Title: AIFsh, a novel apoptosis-inducing factor (AIF) pro-apoptotic isoform with potential pathological relevance in human cancer.

PubMed ID: 16365034

DOI: 10.1074/jbc.m509884200

PubMed ID: 16644725

Title: Identification and characterization of AIFsh2, a mitochondrial apoptosis-inducing factor (AIF) isoform with NADH oxidase activity.

PubMed ID: 16644725

DOI: 10.1074/jbc.m601751200

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15775970

Title: Export of mitochondrial AIF in response to proapoptotic stimuli depends on processing at the intermembrane space.

PubMed ID: 15775970

DOI: 10.1038/sj.emboj.7600614

PubMed ID: 10913597

Title: Apoptosis-inducing factor (AIF): a ubiquitous mitochondrial oxidoreductase involved in apoptosis.

PubMed ID: 10913597

DOI: 10.1016/s0014-5793(00)01731-2

PubMed ID: 17094969

Title: Apoptosis-inducing factor (AIF) inhibits protein synthesis by interacting with the eukaryotic translation initiation factor 3 subunit p44 (eIF3g).

PubMed ID: 17094969

DOI: 10.1016/j.febslet.2006.10.049

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 17967870

Title: Apoptosis-inducing factor is a target for ubiquitination through interaction with XIAP.

PubMed ID: 17967870

DOI: 10.1128/mcb.01065-07

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19418225

Title: Apoptosis-inducing factor plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells.

PubMed ID: 19418225

DOI: 10.1007/s10495-009-0353-7

PubMed ID: 20111043

Title: A brain-specific isoform of mitochondrial apoptosis-inducing factor: AIF2.

PubMed ID: 20111043

DOI: 10.1038/cdd.2009.211

PubMed ID: 21364629

Title: Vital function of PRELI and essential requirement of its LEA motif.

PubMed ID: 21364629

DOI: 10.1038/cddis.2009.19

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22103349

Title: Nondegradative ubiquitination of apoptosis inducing factor (AIF) by X-linked inhibitor of apoptosis at a residue critical for AIF-mediated chromatin degradation.

PubMed ID: 22103349

DOI: 10.1021/bi201483g

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 26004228

Title: Interaction between AIF and CHCHD4 Regulates Respiratory Chain Biogenesis.

PubMed ID: 26004228

DOI: 10.1016/j.molcel.2015.04.020

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 33168626

Title: The 89-kDa PARP1 cleavage fragment serves as a cytoplasmic PAR carrier to induce AIF-mediated apoptosis.

PubMed ID: 33168626

DOI: 10.1074/jbc.ra120.014479

PubMed ID: 12198487

Title: DNA binding is required for the apoptogenic action of apoptosis inducing factor.

PubMed ID: 12198487

DOI: 10.1038/nsb836

PubMed ID: 24914854

Title: Structural insights into the coenzyme mediated monomer-dimer transition of the pro-apoptotic apoptosis inducing factor.

PubMed ID: 24914854

DOI: 10.1021/bi500343r

PubMed ID: 27178839

Title: Structure/Function Relations in AIFM1 Variants Associated with Neurodegenerative Disorders.

PubMed ID: 27178839

DOI: 10.1016/j.jmb.2016.05.004

PubMed ID: 23217327

Title: Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.

PubMed ID: 23217327

DOI: 10.1016/j.ajhg.2012.10.008

PubMed ID: 27818101

Title: Defining NADH-Driven Allostery Regulating Apoptosis-Inducing Factor.

PubMed ID: 27818101

DOI: 10.1016/j.str.2016.09.012

PubMed ID: 20362274

Title: Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.

PubMed ID: 20362274

DOI: 10.1016/j.ajhg.2010.03.002

PubMed ID: 22019070

Title: Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing.

PubMed ID: 22019070

DOI: 10.1016/j.ymgme.2011.09.020

PubMed ID: 25986071

Title: Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.

PubMed ID: 25986071

DOI: 10.1136/jmedgenet-2014-102961

PubMed ID: 25583628

Title: From ventriculomegaly to severe muscular atrophy: Expansion of the clinical spectrum related to mutations in AIFM1.

PubMed ID: 25583628

DOI: 10.1016/j.mito.2015.01.001

PubMed ID: 25934856

Title: A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders.

PubMed ID: 25934856

DOI: 10.1212/wnl.0000000000001613

PubMed ID: 26173962

Title: A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.

PubMed ID: 26173962

DOI: 10.1038/ejhg.2015.141

PubMed ID: 28842795

Title: X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

PubMed ID: 28842795

DOI: 10.1007/s10048-017-0520-x

Sequence Information:

  • Length: 613
  • Mass: 66901
  • Checksum: A156762BC64E6340
  • Sequence:
    • MFRCGGLAAG ALKQKLVPLV RTVCVRSPRQ RNRLPGNLFQ RWHVPLELQM TRQMASSGAS 
GGKIDNSVLV LIVGLSTVGA GAYAYKTMKE DEKRYNERIS GLGLTPEQKQ KKAALSASEG 
EEVPQDKAPS HVPFLLIGGG TAAFAAARSI RARDPGARVL IVSEDPELPY MRPPLSKELW 
FSDDPNVTKT LRFKQWNGKE RSIYFQPPSF YVSAQDLPHI ENGGVAVLTG KKVVQLDVRD 
NMVKLNDGSQ ITYEKCLIAT GGTPRSLSAI DRAGAEVKSR TTLFRKIGDF RSLEKISREV 
KSITIIGGGF LGSELACALG RKARALGTEV IQLFPEKGNM GKILPEYLSN WTMEKVRREG 
VKVMPNAIVQ SVGVSSGKLL IKLKDGRKVE TDHIVAAVGL EPNVELAKTG GLEIDSDFGG 
FRVNAELQAR SNIWVAGDAA CFYDIKLGRR RVEHHDHAVV SGRLAGENMT GAAKPYWHQS 
MFWSDLGPDV GYEAIGLVDS SLPTVGVFAK ATAQDNPKSA TEQSGTGIRS ESETESEASE 
ITIPPSTPAV PQAPVQGEDY GKGVIFYLRD KVVVGIVLWN IFNRMPIARK IIKDGEQHED 
LNEVAKLFNI HED

Genular Protein ID: 709255341

Symbol: E9PMA0_HUMAN

Name: N/A

UniProtKB Accession Codes:

E9PMA0

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 ChEBI 6 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 2 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 4 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PeptideAtlas 1 Pfam 4 Proteomes 2 ProteomicsDB 1 RefSeq 1 Rhea 1 SAM 1 SMART 1 SMR 1 SUPFAM 2 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 274
  • Mass: 29938
  • Checksum: 0BFD7337C48478BC
  • Sequence:
    • MGKILPEYLS NWTMEKVRRE GVKVMPNAIV QSVGVSSGKL LIKLKDGRKV ETDHIVAAVG 
LEPNVELAKT GGLEIDSDFG GFRVNAELQA RSNIWVAGDA ACFYDIKLGR RRVEHHDHAV 
VSGRLAGENM TGAAKPYWHQ SMFWSDLGPD VGYEAIGLVD SSLPTVGVFA KATAQDNPKS 
ATEQSGTGIR SESETESEAS EITIPPSTPA VPQAPVQGED YGKGVIFYLR DKVVVGIVLW 
NIFNRMPIAR KIIKDGEQHE DLNEVAKLFN IHED

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.