Details for: ATP5F1D

Gene ID: 513

Symbol: ATP5F1D

Ensembl ID: ENSG00000099624

Description: ATP synthase F1 subunit delta

Associated with

Cells (max top 100)

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

  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 312.8068
    Cell Significance Index: -128.8600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 242.9453
    Cell Significance Index: -114.7000
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 230.4596
    Cell Significance Index: -118.5500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 171.3654
    Cell Significance Index: -114.9900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 24.0017
    Cell Significance Index: -73.7200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 21.3934
    Cell Significance Index: -57.3100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 14.1872
    Cell Significance Index: -31.0500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 6.7778
    Cell Significance Index: 316.0200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 4.5437
    Cell Significance Index: 205.9500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 4.3040
    Cell Significance Index: 700.0000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.9047
    Cell Significance Index: 536.2200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 3.4849
    Cell Significance Index: 182.9700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 3.3935
    Cell Significance Index: 611.7400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 3.3756
    Cell Significance Index: 415.0600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 3.3177
    Cell Significance Index: 234.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.3087
    Cell Significance Index: 1806.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 3.2631
    Cell Significance Index: 88.8200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 2.9872
    Cell Significance Index: 385.9300
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.9282
    Cell Significance Index: 26.9700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 2.6776
    Cell Significance Index: 1183.8200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.5814
    Cell Significance Index: 304.4300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 2.4594
    Cell Significance Index: 51.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.4575
    Cell Significance Index: 115.5000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 2.4436
    Cell Significance Index: 27.7600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 2.4253
    Cell Significance Index: 156.4700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 2.1911
    Cell Significance Index: 23.8200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 2.1532
    Cell Significance Index: 148.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 2.0287
    Cell Significance Index: 58.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.0101
    Cell Significance Index: 149.8100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.9791
    Cell Significance Index: 195.7800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.9000
    Cell Significance Index: 49.9600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.6777
    Cell Significance Index: 87.1500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.6483
    Cell Significance Index: 48.4100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.6298
    Cell Significance Index: 1471.6200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.4847
    Cell Significance Index: 190.3300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.4078
    Cell Significance Index: 26.0200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.2360
    Cell Significance Index: 18.5200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.7035
    Cell Significance Index: 515.7900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.5611
    Cell Significance Index: 112.5500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5608
    Cell Significance Index: 33.6700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4751
    Cell Significance Index: 90.4200
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.4170
    Cell Significance Index: 5.3400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.3398
    Cell Significance Index: 26.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.3364
    Cell Significance Index: 11.8200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3274
    Cell Significance Index: 64.9800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2130
    Cell Significance Index: 76.4000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.2094
    Cell Significance Index: 158.4900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.2079
    Cell Significance Index: 5.9600
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0611
    Cell Significance Index: 10.4400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0270
    Cell Significance Index: 0.4100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0040
    Cell Significance Index: 7.5300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0052
    Cell Significance Index: -0.1400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0293
    Cell Significance Index: -0.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0568
    Cell Significance Index: -104.6800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0654
    Cell Significance Index: -6.6800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0676
    Cell Significance Index: -104.1100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0692
    Cell Significance Index: -3.4900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0777
    Cell Significance Index: -2.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0965
    Cell Significance Index: -131.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.1265
    Cell Significance Index: -93.6800
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1275
    Cell Significance Index: -81.0100
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.1516
    Cell Significance Index: -104.8200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1922
    Cell Significance Index: -87.2200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1947
    Cell Significance Index: -7.9800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1950
    Cell Significance Index: -109.9800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.2051
    Cell Significance Index: -128.0800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2512
    Cell Significance Index: -15.8300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2546
    Cell Significance Index: -29.1700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.3211
    Cell Significance Index: -5.6800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3275
    Cell Significance Index: -94.2300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.4451
    Cell Significance Index: -12.4400
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.4937
    Cell Significance Index: -37.8900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5789
    Cell Significance Index: -18.5400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.5928
    Cell Significance Index: -124.8600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.6037
    Cell Significance Index: -87.7600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6306
    Cell Significance Index: -16.1100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.6346
    Cell Significance Index: -73.9500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.6822
    Cell Significance Index: -14.7800
  • Cell Name: seromucus secreting cell (CL0000159)
    Fold Change: -0.6960
    Cell Significance Index: -14.5200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.7867
    Cell Significance Index: -48.3600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.9975
    Cell Significance Index: -108.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.0266
    Cell Significance Index: -106.8900
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -1.1611
    Cell Significance Index: -12.0200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.2164
    Cell Significance Index: -14.5000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.3116
    Cell Significance Index: -22.6100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.5550
    Cell Significance Index: -95.3400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.6006
    Cell Significance Index: -89.8200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.7393
    Cell Significance Index: -23.7300
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: -1.8550
    Cell Significance Index: -15.9400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -1.8685
    Cell Significance Index: -32.0200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.9094
    Cell Significance Index: -56.2400
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -2.0660
    Cell Significance Index: -50.4100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -2.2536
    Cell Significance Index: -18.9300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -2.2671
    Cell Significance Index: -100.2800
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -2.3002
    Cell Significance Index: -32.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -2.3891
    Cell Significance Index: -61.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -2.5123
    Cell Significance Index: -62.8000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -2.6393
    Cell Significance Index: -56.2100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -2.6957
    Cell Significance Index: -102.0800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -2.7251
    Cell Significance Index: -95.4700

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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 Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: 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:** The ATP5F1D gene encodes for the F1 subunit delta of the mitochondrial ATP synthase complex. This subunit is a crucial component of the complex, responsible for binding to the F1 subunit alpha and facilitating the rotation of the stalk subunits, which in turn drives the synthesis of ATP. The F1 subunit delta is highly conserved across species, suggesting its essential role in mitochondrial function. **Pathways and Functions:** The ATP5F1D gene is involved in several key pathways, including: 1. **Aerobic Respiration:** The ATP synthase complex plays a critical role in generating ATP during aerobic respiration, a process that involves the transfer of electrons from NADH to oxygen. 2. **Cristae Formation:** The F1 subunit delta is involved in the formation of the cristae, the infoldings of the mitochondrial inner membrane that increase the surface area for ATP synthesis. 3. **Mitochondrial Biogenesis:** The ATP synthase complex is also involved in the biogenesis of mitochondria, ensuring the proper assembly and function of the organelle. 4. **Proton-Transporting ATP Synthase Activity:** The F1 subunit delta is responsible for the rotational mechanism of the ATP synthase complex, which drives the synthesis of ATP. **Clinical Significance:** Dysfunction of the ATP5F1D gene has been implicated in various diseases, including: 1. **Mitochondrial Myopathies:** Mutations in the ATP5F1D gene have been associated with mitochondrial myopathies, a group of diseases characterized by muscle weakness and fatigue. 2. **Neurodegenerative Disorders:** The ATP synthase complex has also been implicated in neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. 3. **Cancer:** The F1 subunit delta has been shown to be overexpressed in certain types of cancer, suggesting its potential role in tumorigenesis. In conclusion, the ATP5F1D gene plays a crucial role in mitochondrial function and disease pathogenesis. Further research is needed to fully understand the mechanisms by which the F1 subunit delta contributes to disease, and to explore potential therapeutic strategies for targeting this gene. **Significantly Expressed Cells:** The ATP5F1D gene is significantly expressed in various cell types, including: 1. **Follicular B Cell:** The ATP synthase complex is essential for the survival and function of follicular B cells, which are critical for the adaptive immune response. 2. **Pancreatic Acinar Cell:** The F1 subunit delta is involved in the regulation of pancreatic acinar cell function, which is essential for the production of digestive enzymes. 3. **Myeloid Dendritic Cell:** The ATP synthase complex is also expressed in myeloid dendritic cells, which play a critical role in the initiation of immune responses. **Proteins:** The ATP5F1D gene encodes for the F-ATPase delta subunit, which is also known as ATPD_HUMAN. This protein is a crucial component of the mitochondrial proton-transporting ATP synthase complex.

Genular Protein ID: 4269643913

Symbol: ATPD_HUMAN

Name: F-ATPase delta subunit

UniProtKB Accession Codes:

P30049 D6W5Y3 Q6FG90

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 EMBL 12 EMDB 10 Ensembl 3 ExpressionAtlas 1 GO 12 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HAMAP 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 10 PDBsum 10 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1531933

Title: Molecular cloning of an import precursor of the delta-subunit of the human mitochondrial ATP synthase complex.

PubMed ID: 1531933

DOI: 10.1016/0167-4781(92)90477-h

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 1286669

Title: Human liver protein map: a reference database established by microsequencing and gel comparison.

PubMed ID: 1286669

DOI: 10.1002/elps.11501301201

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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

DOI: 10.1002/pmic.201400617

PubMed ID: 29478781

Title: Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.

PubMed ID: 29478781

DOI: 10.1016/j.ajhg.2018.01.020

Sequence Information:

  • Length: 168
  • Mass: 17490
  • Checksum: B7F0D1D01ADFDFE7
  • Sequence:
    • MLPAALLRRP GLGRLVRHAR AYAEAAAAPA AASGPNQMSF TFASPTQVFF NGANVRQVDV 
PTLTGAFGIL AAHVPTLQVL RPGLVVVHAE DGTTSKYFVS SGSIAVNADS SVQLLAEEAV 
TLDMLDLGAA KANLEKAQAE LVGTADEATR AEIQIRIEAN EALVKALE

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.