Gene DPH1 - ENSG00000108963 | NCBI Gene ID: 1801

Details for: DPH1

Gene ID: 1801

Symbol: DPH1

Ensembl ID: ENSG00000108963

Description: diphthamide biosynthesis 1

Associated with

Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation
(R-HSA-163841)
Metabolism of proteins
(R-HSA-392499)
Post-translational protein modification
(R-HSA-597592)
Synthesis of diphthamide-eef2
(R-HSA-5358493)
2-(3-amino-3-carboxypropyl)histidine synthase activity
(GO:0090560)
4 iron, 4 sulfur cluster binding
(GO:0051539)
Cell junction
(GO:0030054)
Cytosol
(GO:0005829)
Fibroblast proliferation
(GO:0048144)
Metal ion binding
(GO:0046872)
Nucleoplasm
(GO:0005654)
Protein-containing complex
(GO:0032991)
Protein binding
(GO:0005515)
Protein histidyl modification to diphthamide
(GO:0017183)

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 1.64
Marker Score: 667
Cell Name: germ cell (CL0000586)
Fold Change: 1.52
Marker Score: 2649
Cell Name: tracheal goblet cell (CL1000329)
Fold Change: 1.43
Marker Score: 4038
Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
Fold Change: 1.26
Marker Score: 8063
Cell Name: primordial germ cell (CL0000670)
Fold Change: 1.18
Marker Score: 1484
Cell Name: colon goblet cell (CL0009039)
Fold Change: 1.14
Marker Score: 830
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 1.04
Marker Score: 16229
Cell Name: myeloid dendritic cell (CL0000782)
Fold Change: 1
Marker Score: 609
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71795
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48020
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30407
Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.97
Marker Score: 501
Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
Fold Change: 0.96
Marker Score: 455
Cell Name: Unknown (CL0002371)
Fold Change: 0.96
Marker Score: 1019
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2411
Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.93
Marker Score: 629
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.92
Marker Score: 1743
Cell Name: small intestine goblet cell (CL1000495)
Fold Change: 0.92
Marker Score: 368
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.91
Marker Score: 2733
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 0.91
Marker Score: 382
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.89
Marker Score: 5099
Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.89
Marker Score: 321
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5278
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.84
Marker Score: 1977
Cell Name: IgG plasma cell (CL0000985)
Fold Change: 0.8
Marker Score: 348
Cell Name: T follicular helper cell (CL0002038)
Fold Change: 0.79
Marker Score: 658
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1249
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 0.77
Marker Score: 587
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 700
Cell Name: enterocyte of colon (CL1000347)
Fold Change: 0.77
Marker Score: 1181
Cell Name: granulosa cell (CL0000501)
Fold Change: 0.76
Marker Score: 7692
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.75
Marker Score: 390
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 0.75
Marker Score: 204
Cell Name: Leydig cell (CL0000178)
Fold Change: 0.75
Marker Score: 803
Cell Name: respiratory epithelial cell (CL0002368)
Fold Change: 0.74
Marker Score: 409
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 0.73
Marker Score: 1133
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 0.73
Marker Score: 294
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.71
Marker Score: 1940
Cell Name: primitive red blood cell (CL0002355)
Fold Change: 0.69
Marker Score: 519
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.69
Marker Score: 177
Cell Name: kidney capillary endothelial cell (CL1000892)
Fold Change: 0.68
Marker Score: 213
Cell Name: interstitial cell of ovary (CL0002094)
Fold Change: 0.66
Marker Score: 4309
Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.66
Marker Score: 2762.5
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.66
Marker Score: 40347
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 0.65
Marker Score: 6202
Cell Name: hepatocyte (CL0000182)
Fold Change: 0.65
Marker Score: 442
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.64
Marker Score: 207
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 0.63
Marker Score: 5378
Cell Name: Sertoli cell (CL0000216)
Fold Change: 0.62
Marker Score: 3668
Cell Name: medullary thymic epithelial cell (CL0002365)
Fold Change: 0.61
Marker Score: 1002
Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
Fold Change: 0.61
Marker Score: 440
Cell Name: neuron (CL0000540)
Fold Change: 0.6
Marker Score: 2463
Cell Name: astrocyte (CL0000127)
Fold Change: 0.59
Marker Score: 513
Cell Name: plasmablast (CL0000980)
Fold Change: 0.59
Marker Score: 784
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 0.58
Marker Score: 5470
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 0.57
Marker Score: 345
Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.56
Marker Score: 361
Cell Name: oogonial cell (CL0000024)
Fold Change: 0.56
Marker Score: 799
Cell Name: intestinal enteroendocrine cell (CL1001516)
Fold Change: 0.55
Marker Score: 440
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.55
Marker Score: 261
Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
Fold Change: 0.54
Marker Score: 923
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.54
Marker Score: 139
Cell Name: unswitched memory B cell (CL0000970)
Fold Change: 0.53
Marker Score: 311
Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.53
Marker Score: 219
Cell Name: erythroid progenitor cell, mammalian (CL0001066)
Fold Change: 0.52
Marker Score: 168
Cell Name: CD38-negative naive B cell (CL0002102)
Fold Change: 0.51
Marker Score: 1077
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 0.51
Marker Score: 18822
Cell Name: dendritic cell, human (CL0001056)
Fold Change: 0.5
Marker Score: 514
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 0.49
Marker Score: 155
Cell Name: exhausted T cell (CL0011025)
Fold Change: 0.48
Marker Score: 276
Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
Fold Change: 0.48
Marker Score: 345
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.47
Marker Score: 431
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 0.47
Marker Score: 4834
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 0.46
Marker Score: 17574
Cell Name: mature alpha-beta T cell (CL0000791)
Fold Change: 0.46
Marker Score: 24434
Cell Name: CD8-positive, alpha-beta cytotoxic T cell (CL0000794)
Fold Change: 0.46
Marker Score: 403
Cell Name: hematopoietic precursor cell (CL0008001)
Fold Change: 0.46
Marker Score: 160
Cell Name: fibroblast of cardiac tissue (CL0002548)
Fold Change: 0.45
Marker Score: 2679
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.44
Marker Score: 1717
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 0.44
Marker Score: 8750
Cell Name: B-1b B cell (CL0000821)
Fold Change: 0.44
Marker Score: 101
Cell Name: T-helper 22 cell (CL0001042)
Fold Change: 0.44
Marker Score: 1880
Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
Fold Change: 0.44
Marker Score: 199
Cell Name: male germ cell (CL0000015)
Fold Change: 0.43
Marker Score: 124
Cell Name: basal cell of epithelium of trachea (CL1000348)
Fold Change: 0.43
Marker Score: 3175
Cell Name: interneuron (CL0000099)
Fold Change: 0.41
Marker Score: 188
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 0.41
Marker Score: 3122
Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: 0.4
Marker Score: 213
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 0.4
Marker Score: 1669
Cell Name: naive regulatory T cell (CL0002677)
Fold Change: 0.4
Marker Score: 122
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 0.4
Marker Score: 5968
Cell Name: ciliated cell (CL0000064)
Fold Change: 0.4
Marker Score: 1365
Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
Fold Change: 0.39
Marker Score: 691
Cell Name: common myeloid progenitor (CL0000049)
Fold Change: 0.38
Marker Score: 101
Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.38
Marker Score: 158
Cell Name: oocyte (CL0000023)
Fold Change: 0.37
Marker Score: 92
Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
Fold Change: 0.37
Marker Score: 271
Cell Name: mature gamma-delta T cell (CL0000800)
Fold Change: 0.37
Marker Score: 1165
Cell Name: adventitial cell (CL0002503)
Fold Change: 0.36
Marker Score: 89
Cell Name: Unknown (CL0000548)
Fold Change: 0.35
Marker Score: 257

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**Key characteristics:** - DPH1 is a transmembrane protein with a molecular weight of approximately 130 kDa. - It is localized to the cell surface and is involved in cell junction formation. - DPH1 is a key regulator of cell proliferation, survival, and differentiation. - It is involved in the regulation of epithelial cell migration and wound healing. - It is also involved in the regulation of angiogenesis and cell migration. **Pathways and functions:** - DPH1 is involved in the biosynthesis of diphthamide, a process that is essential for the proper functioning of various cell types. - It is involved in the regulation of cell proliferation, survival, and differentiation. - It is also involved in the regulation of epithelial cell migration and wound healing. - It is involved in the regulation of angiogenesis and cell migration. **Clinical significance:** - Mutations in DPH1 have been linked to several human diseases, including cancer and developmental disorders. - Dysregulation of DPH1 has been implicated in the pathogenesis of these diseases. - Therefore, DPH1 is a promising target for the development of novel therapeutic strategies for cancer and other diseases that are characterized by abnormal cell proliferation and migration.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

DPH1_HUMAN

Genular Protein ID: 2957310474

Symbol: DPH1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9BZG8 A0A6Q8JGF9 D3DTI3 Q16439 Q4VBA2 Q9BTW7 Q9UCY0

Database IDs:

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. For the full schema, download it here.

Details for: DPH1

Associated with

Cells (max top 100)

Other Information

A cDNA from the ovarian cancer critical region of deletion on chromosome 17p13.3. PubMed ID: 8603384

Identification of two candidate tumor suppressor genes on chromosome 17p13.3. PubMed ID: 8616839

DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. PubMed ID: 16625196

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Expression of OVCA1, a candidate tumor suppressor, is reduced in tumors and inhibits growth of ovarian cancer cells. PubMed ID: 10519411

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

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. PubMed ID: 25558065

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

Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities. PubMed ID: 29362492

DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients. PubMed ID: 30877278