Details for: DPH1

Gene ID: 1801

Symbol: DPH1

Ensembl ID: ENSG00000108963

Description: diphthamide biosynthesis 1

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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 48.9890
    Cell Significance Index: -7.6200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 30.1605
    Cell Significance Index: -7.6500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 19.8889
    Cell Significance Index: -8.0800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 6.2046
    Cell Significance Index: -7.6500
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.7925
    Cell Significance Index: 11.0900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.6371
    Cell Significance Index: 48.0800
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.9040
    Cell Significance Index: 12.6800
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.8105
    Cell Significance Index: 10.3800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.7146
    Cell Significance Index: 15.2800
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 0.6972
    Cell Significance Index: 9.3000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4102
    Cell Significance Index: 283.7200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3827
    Cell Significance Index: 76.7700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3161
    Cell Significance Index: 60.1600
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 0.2224
    Cell Significance Index: 1.3200
  • Cell Name: glioblast (CL0000030)
    Fold Change: 0.1927
    Cell Significance Index: 1.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1892
    Cell Significance Index: 8.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1803
    Cell Significance Index: 64.6900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1788
    Cell Significance Index: 6.7700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1682
    Cell Significance Index: 10.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1614
    Cell Significance Index: 4.6500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1538
    Cell Significance Index: 15.2100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1366
    Cell Significance Index: 10.4800
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.1314
    Cell Significance Index: 1.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1288
    Cell Significance Index: 15.1900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1099
    Cell Significance Index: 2.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1038
    Cell Significance Index: 20.5900
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.0987
    Cell Significance Index: 0.4800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.0947
    Cell Significance Index: 1.2900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.0944
    Cell Significance Index: 85.2200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0861
    Cell Significance Index: 14.0100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0838
    Cell Significance Index: 3.8000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0817
    Cell Significance Index: 1.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0708
    Cell Significance Index: 12.7700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0669
    Cell Significance Index: 1.7200
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.0642
    Cell Significance Index: 0.4900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0447
    Cell Significance Index: 2.8200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0440
    Cell Significance Index: 1.2300
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0384
    Cell Significance Index: 0.8400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0323
    Cell Significance Index: 4.7000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0307
    Cell Significance Index: 2.1200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.0254
    Cell Significance Index: 1.5600
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.0238
    Cell Significance Index: 0.1300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0200
    Cell Significance Index: 0.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0170
    Cell Significance Index: 2.0900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0071
    Cell Significance Index: 13.3000
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.0053
    Cell Significance Index: 0.0800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0029
    Cell Significance Index: 1.5800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0025
    Cell Significance Index: 0.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0012
    Cell Significance Index: 2.1700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0003
    Cell Significance Index: 0.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0002
    Cell Significance Index: 0.2400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0006
    Cell Significance Index: -0.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0012
    Cell Significance Index: -0.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0037
    Cell Significance Index: -0.1300
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.0047
    Cell Significance Index: -0.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0071
    Cell Significance Index: -3.2200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0100
    Cell Significance Index: -7.3800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0104
    Cell Significance Index: -0.7000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0110
    Cell Significance Index: -8.2900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0113
    Cell Significance Index: -8.2700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0125
    Cell Significance Index: -0.2600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0137
    Cell Significance Index: -7.7400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0137
    Cell Significance Index: -8.5500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0166
    Cell Significance Index: -0.8600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0177
    Cell Significance Index: -2.2800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0178
    Cell Significance Index: -2.4500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0231
    Cell Significance Index: -6.6600
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.0272
    Cell Significance Index: -0.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0288
    Cell Significance Index: -2.9400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0336
    Cell Significance Index: -5.7300
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0344
    Cell Significance Index: -1.6100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0408
    Cell Significance Index: -0.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0409
    Cell Significance Index: -8.6100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0533
    Cell Significance Index: -6.2100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.0543
    Cell Significance Index: -0.9300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0543
    Cell Significance Index: -7.0200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0546
    Cell Significance Index: -1.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0575
    Cell Significance Index: -6.5900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0599
    Cell Significance Index: -1.6000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0634
    Cell Significance Index: -1.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0653
    Cell Significance Index: -6.8000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0805
    Cell Significance Index: -5.6900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0818
    Cell Significance Index: -2.1500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0960
    Cell Significance Index: -5.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0999
    Cell Significance Index: -2.1200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1010
    Cell Significance Index: -4.7500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1037
    Cell Significance Index: -7.7300
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1057
    Cell Significance Index: -2.0900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1079
    Cell Significance Index: -6.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1115
    Cell Significance Index: -8.8300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1228
    Cell Significance Index: -3.9100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1228
    Cell Significance Index: -4.0200
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1230
    Cell Significance Index: -0.8000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1311
    Cell Significance Index: -2.7500
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1390
    Cell Significance Index: -4.8700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1395
    Cell Significance Index: -1.7300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1415
    Cell Significance Index: -2.8400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1417
    Cell Significance Index: -7.3800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1447
    Cell Significance Index: -3.8700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1522
    Cell Significance Index: -6.6200

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:** DPH1 is a gene that exhibits high expression levels in various cell types, including immune cells, neural cells, and epithelial cells. The encoded protein, DPH1_HUMAN, belongs to the 2-(3-amino-3-carboxypropyl)histidine synthase activity family and is characterized by its ability to catalyze the synthesis of diphthamide, a unique post-translational modification that involves the addition of a 4-carbon side chain to histidine residues. This modification is crucial for the activation of various signaling pathways, including those involved in immune responses, cell proliferation, and differentiation. **Pathways and Functions:** DPH1 plays a pivotal role in several cellular processes, including: 1. **Immune responses:** DPH1 is highly expressed in immune cells, such as CD4-positive T cells and myeloid dendritic cells, where it regulates the activity of key signaling molecules, including T-cell receptors and cytokine receptors. 2. **Cell proliferation and differentiation:** DPH1 is also involved in the regulation of cell growth and differentiation, particularly in neural cells, where it influences the development and maintenance of GABAergic interneurons. 3. **Protein modification:** DPH1 is responsible for the synthesis of diphthamide, a post-translational modification that can alter the activity of various proteins, including receptor tyrosine kinases and transcription factors. 4. **Metabolic pathways:** DPH1 is involved in the regulation of metabolic pathways, including the metabolism of proteins and the activation of arylsulfatase, an enzyme involved in the degradation of sulfated compounds. **Clinical Significance:** The dysregulation of DPH1 has been implicated in various diseases, including: 1. **Immunodeficiency disorders:** Mutations in the DPH1 gene have been linked to impaired immune function, leading to recurrent infections and autoimmune disorders. 2. **Neurological disorders:** Alterations in DPH1 expression have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 3. **Cancer:** DPH1 has been shown to play a role in the regulation of cell growth and differentiation, making it a potential target for cancer therapy. In conclusion, DPH1 is a critical gene that plays a pivotal role in various cellular processes, including immune responses, cell proliferation, and protein modification. Further research is needed to fully elucidate the mechanisms underlying DPH1 function and to explore its therapeutic potential in diseases associated with its dysregulation.

Genular Protein ID: 2957310474

Symbol: DPH1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BZG8 A0A6Q8JGF9 D3DTI3 Q16439 Q4VBA2 Q9BTW7 Q9UCY0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 9 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 10 Ensembl 3 ExpressionAtlas 1 GO 9 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 Rhea 3 SFLD 2 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8603384

Title: A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3.

PubMed ID: 8603384

DOI: 10.1016/0304-3835(96)04169-9

PubMed ID: 8616839

Title: Identification of two candidate tumor suppressor genes on chromosome 17p13.3.

PubMed ID: 8616839

PubMed ID: 16625196

Title: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.

PubMed ID: 16625196

DOI: 10.1038/nature04689

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: 10519411

Title: Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells.

PubMed ID: 10519411

PubMed ID: 11013075

Title: Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor.

PubMed ID: 11013075

DOI: 10.1006/geno.2000.6315

PubMed ID: 25558065

Title: Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PubMed ID: 25558065

DOI: 10.1016/j.celrep.2014.12.015

PubMed ID: 26220823

Title: Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.

PubMed ID: 26220823

DOI: 10.1002/humu.22843

PubMed ID: 29362492

Title: Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities.

PubMed ID: 29362492

DOI: 10.1038/s10038-017-0399-2

PubMed ID: 30877278

Title: DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.

PubMed ID: 30877278

DOI: 10.1038/s41431-019-0374-9

Sequence Information:

  • Length: 438
  • Mass: 48134
  • Checksum: 3D01BBF79F4556C7
  • Sequence:
    • MAALVVSGAA EQGGRDGPGR GRAPRGRVAN QIPPEILKNP QLQAAIRVLP SNYNFEIPKT 
IWRIQQAQAK KVALQMPEGL LLFACTIVDI LERFTEAEVM VMGDVTYGAC CVDDFTARAL 
GADFLVHYGH SCLIPMDTSA QDFRVLYVFV DIRIDTTHLL DSLRLTFPPA TALALVSTIQ 
FVSTLQAAAQ ELKAEYRVSV PQCKPLSPGE ILGCTSPRLS KEVEAVVYLG DGRFHLESVM 
IANPNVPAYR YDPYSKVLSR EHYDHQRMQA ARQEAIATAR SAKSWGLILG TLGRQGSPKI 
LEHLESRLRA LGLSFVRLLL SEIFPSKLSL LPEVDVWVQV ACPRLSIDWG TAFPKPLLTP 
YEAAVALRDI SWQQPYPMDF YAGSSLGPWT VNHGQDRRPH APGRPARGKV QEGSARPPSA 
VACEDCSCRD EKVAPLAP

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.