Details for: HCFC1

Gene ID: 3054

Symbol: HCFC1

Ensembl ID: ENSG00000172534

Description: host cell factor C1

Associated with

Cells (max top 100)

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

  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.44
    Marker Score: 1282
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 1.2
    Marker Score: 727.5
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.1
    Marker Score: 748
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.07
    Marker Score: 2033
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.07
    Marker Score: 754
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.07
    Marker Score: 4428
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.05
    Marker Score: 330
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1
    Marker Score: 402
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71701
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47925
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30392
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.98
    Marker Score: 15322
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.98
    Marker Score: 984
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.97
    Marker Score: 2293
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2393
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.94
    Marker Score: 2555.5
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.93
    Marker Score: 1154
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.92
    Marker Score: 474
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.91
    Marker Score: 429
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2696
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 0.89
    Marker Score: 596
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.88
    Marker Score: 49223
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.88
    Marker Score: 528
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.88
    Marker Score: 282
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.87
    Marker Score: 5170
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5278
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.85
    Marker Score: 565
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.85
    Marker Score: 304
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4802
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.84
    Marker Score: 876
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.83
    Marker Score: 894
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.83
    Marker Score: 2459
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.81
    Marker Score: 1076
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.81
    Marker Score: 792
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.81
    Marker Score: 1161
  • Cell Name: blood cell (CL0000081)
    Fold Change: 0.79
    Marker Score: 9176.5
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1267
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.78
    Marker Score: 312.5
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.78
    Marker Score: 5789
  • Cell Name: Unknown (CL0000548)
    Fold Change: 0.77
    Marker Score: 562
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.77
    Marker Score: 576
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.76
    Marker Score: 1553
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.76
    Marker Score: 264
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.76
    Marker Score: 1113
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.75
    Marker Score: 2789
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.75
    Marker Score: 573
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.75
    Marker Score: 794
  • Cell Name: late promyelocyte (CL0002151)
    Fold Change: 0.73
    Marker Score: 182
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.72
    Marker Score: 1647
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.72
    Marker Score: 904
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.72
    Marker Score: 404
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.72
    Marker Score: 1954
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 371
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.71
    Marker Score: 453
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.71
    Marker Score: 741
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 0.71
    Marker Score: 486
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.71
    Marker Score: 377
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.7
    Marker Score: 711
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.7
    Marker Score: 1737
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.69
    Marker Score: 6098
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.69
    Marker Score: 733.5
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.69
    Marker Score: 739.5
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.69
    Marker Score: 323
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.69
    Marker Score: 630
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 0.69
    Marker Score: 339
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 0.69
    Marker Score: 1335
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.68
    Marker Score: 6901
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.68
    Marker Score: 6816
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 0.68
    Marker Score: 575
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: IgG plasmablast (CL0000982)
    Fold Change: 0.66
    Marker Score: 183
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.66
    Marker Score: 2773
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 0.66
    Marker Score: 163
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 0.66
    Marker Score: 2698
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.65
    Marker Score: 607
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.64
    Marker Score: 607
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.64
    Marker Score: 1621
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.64
    Marker Score: 206
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.64
    Marker Score: 429
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.63
    Marker Score: 354
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.63
    Marker Score: 315
  • Cell Name: intermediate monocyte (CL0002393)
    Fold Change: 0.63
    Marker Score: 217
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.62
    Marker Score: 656
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.62
    Marker Score: 165
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 0.62
    Marker Score: 326
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.61
    Marker Score: 159
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.61
    Marker Score: 347
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.61
    Marker Score: 403
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.61
    Marker Score: 556
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.6
    Marker Score: 1420
  • Cell Name: naive regulatory T cell (CL0002677)
    Fold Change: 0.6
    Marker Score: 183
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.6
    Marker Score: 1257
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.6
    Marker Score: 669
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 0.6
    Marker Score: 258
  • Cell Name: mature B cell (CL0000785)
    Fold Change: 0.6
    Marker Score: 438
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.6
    Marker Score: 140
  • Cell Name: stem cell (CL0000034)
    Fold Change: 0.6
    Marker Score: 1415
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 0.6
    Marker Score: 224
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.59
    Marker Score: 171
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 0.59
    Marker Score: 840

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - The protein is a transmembrane protein with a predicted molecular weight of approximately 150 kDa. - It is expressed in a wide range of cell types, including epithelial cells, endothelial cells, and immune cells. - It is a key regulator of EMT in epithelial cells. - It is involved in the regulation of cell migration, proliferation, and survival. **Pathways and functions:** - The protein is involved in the regulation of cell growth and differentiation. - It is a key regulator of EMT, a process that is essential for the development of tissues and organs. - It is involved in the migration, proliferation, and survival of epithelial cells. - It is also involved in the regulation of cell-cell interactions. **Clinical significance:** - Mutations in the HCFC1 gene have been linked to a number of human diseases, including cancer, heart disease, and stroke. - These mutations can disrupt the normal function of the protein, leading to the development of these diseases. - Therefore, understanding the role of HCFC1 in cell growth, differentiation, and migration is important for the development of new treatments for these diseases.

Genular Protein ID: 3493143870

Symbol: HCFC1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 8392914

Title: The VP16 accessory protein HCF is a family of polypeptides processed from a large precursor protein.

PubMed ID: 8392914

DOI: 10.1016/0092-8674(93)90299-6

PubMed ID: 7876203

Title: The cellular C1 factor of the herpes simplex virus enhancer complex is a family of polypeptides.

PubMed ID: 7876203

DOI: 10.1074/jbc.270.9.4387

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: 7829097

Title: Genomic organization of the human VP16 accessory protein, a housekeeping gene (HCFC1) mapping to Xq28.

PubMed ID: 7829097

DOI: 10.1006/geno.1994.1455

PubMed ID: 10920196

Title: Autocatalytic proteolysis of the transcription factor-coactivator C1 (HCF): a potential role for proteolytic regulation of coactivator function.

PubMed ID: 10920196

DOI: 10.1073/pnas.160266697

PubMed ID: 7590226

Title: The HCF repeat is an unusual proteolytic cleavage signal.

PubMed ID: 7590226

DOI: 10.1101/gad.9.20.2445

PubMed ID: 9271389

Title: Luman, a new member of the CREB/ATF family, binds to herpes simplex virus VP16-associated host cellular factor.

PubMed ID: 9271389

DOI: 10.1128/mcb.17.9.5117

PubMed ID: 9389645

Title: Viral mimicry: common mode of association with HCF by VP16 and the cellular protein LZIP.

PubMed ID: 9389645

DOI: 10.1101/gad.11.23.3122

PubMed ID: 9990006

Title: Nuclear localization of the C1 factor (host cell factor) in sensory neurons correlates with reactivation of herpes simplex virus from latency.

PubMed ID: 9990006

DOI: 10.1073/pnas.96.4.1229

PubMed ID: 10675337

Title: The novel coactivator C1 (HCF) coordinates multiprotein enhancer formation and mediates transcription activation by GABP.

PubMed ID: 10675337

DOI: 10.1093/emboj/19.4.683

PubMed ID: 10623756

Title: Potential role for luman, the cellular homologue of herpes simplex virus VP16 (alpha gene trans-inducing factor), in herpesvirus latency.

PubMed ID: 10623756

DOI: 10.1128/jvi.74.2.934-943.2000

PubMed ID: 10976766

Title: A set of proteins interacting with transcription factor Sp1 identified in a two-hybrid screening.

PubMed ID: 10976766

DOI: 10.1023/a:1007177623283

PubMed ID: 10629049

Title: Mutations in host cell factor 1 separate its role in cell proliferation from recruitment of VP16 and LZIP.

PubMed ID: 10629049

DOI: 10.1128/mcb.20.3.919-928.2000

PubMed ID: 10779346

Title: A novel 50-kilodalton fragment of host cell factor 1 (C1) in G(0) cells.

PubMed ID: 10779346

DOI: 10.1128/mcb.20.10.3568-3575.2000

PubMed ID: 10871379

Title: Zhangfei: a second cellular protein interacts with herpes simplex virus accessory factor HCF in a manner similar to Luman and VP16.

PubMed ID: 10871379

DOI: 10.1093/nar/28.12.2446

PubMed ID: 10984507

Title: N-terminal transcriptional activation domain of LZIP comprises two LxxLL motifs and the host cell factor-1 binding motif.

PubMed ID: 10984507

DOI: 10.1073/pnas.190062797

PubMed ID: 12235138

Title: Interaction of HCF-1 with a cellular nuclear export factor.

PubMed ID: 12235138

DOI: 10.1074/jbc.m205440200

PubMed ID: 12244100

Title: Host cell factor-1 interacts with and antagonizes transactivation by the cell cycle regulatory factor Miz-1.

PubMed ID: 12244100

DOI: 10.1074/jbc.m206226200

PubMed ID: 14532282

Title: HCF-1 functions as a coactivator for the zinc finger protein Krox20.

PubMed ID: 14532282

DOI: 10.1074/jbc.m303470200

PubMed ID: 12670868

Title: Human Sin3 deacetylase and trithorax-related Set1/Ash2 histone H3-K4 methyltransferase are tethered together selectively by the cell-proliferation factor HCF-1.

PubMed ID: 12670868

DOI: 10.1101/gad.252103

PubMed ID: 15190068

Title: A protein sequestering system reveals control of cellular programs by the transcriptional coactivator HCF-1.

PubMed ID: 15190068

DOI: 10.1074/jbc.m401255200

PubMed ID: 15199122

Title: Leukemia proto-oncoprotein MLL forms a SET1-like histone methyltransferase complex with menin to regulate Hox gene expression.

PubMed ID: 15199122

DOI: 10.1128/mcb.24.13.5639-5649.2004

PubMed ID: 15960975

Title: Physical association and coordinate function of the H3 K4 methyltransferase MLL1 and the H4 K16 acetyltransferase MOF.

PubMed ID: 15960975

DOI: 10.1016/j.cell.2005.04.031

PubMed ID: 15705566

Title: Zhangfei is a potent and specific inhibitor of the host cell factor-binding transcription factor Luman.

PubMed ID: 15705566

DOI: 10.1074/jbc.m500728200

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 16624878

Title: Site-specific proteolysis of the transcriptional coactivator HCF-1 can regulate its interaction with protein cofactors.

PubMed ID: 16624878

DOI: 10.1073/pnas.0602109103

PubMed ID: 17924679

Title: Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra.

PubMed ID: 17924679

DOI: 10.1021/pr070152u

PubMed ID: 17578910

Title: The coactivator host cell factor-1 mediates Set1 and MLL1 H3K4 trimethylation at herpesvirus immediate early promoters for initiation of infection.

PubMed ID: 17578910

DOI: 10.1073/pnas.0704351104

PubMed ID: 17998332

Title: Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes.

PubMed ID: 17998332

DOI: 10.1128/mcb.01356-07

PubMed ID: 18838538

Title: Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS.

PubMed ID: 18838538

DOI: 10.1128/mcb.00976-08

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19131338

Title: Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.

PubMed ID: 19131338

DOI: 10.1074/jbc.m805872200

PubMed ID: 19815555

Title: The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1.

PubMed ID: 19815555

DOI: 10.1074/jbc.m109.046755

PubMed ID: 19188440

Title: Association of C-terminal ubiquitin hydrolase BRCA1-associated protein 1 with cell cycle regulator host cell factor 1.

PubMed ID: 19188440

DOI: 10.1128/mcb.01517-08

PubMed ID: 19377461

Title: GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis.

PubMed ID: 19377461

DOI: 10.1038/nature07954

PubMed ID: 24336203

Title: Retraction: GlcNAcylation of a histone methyltransferase in retinoic-acid-induced granulopoiesis.

PubMed ID: 24336203

DOI: 10.1038/nature12896

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

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: 24129315

Title: Immunoaffinity enrichment and mass spectrometry analysis of protein methylation.

PubMed ID: 24129315

DOI: 10.1074/mcp.o113.027870

PubMed ID: 20018852

Title: Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex.

PubMed ID: 20018852

DOI: 10.1074/jbc.c109.087981

PubMed ID: 20200153

Title: The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias.

PubMed ID: 20200153

DOI: 10.1074/jbc.m109.072579

PubMed ID: 21285374

Title: Crosstalk between O-GlcNAcylation and proteolytic cleavage regulates the host cell factor-1 maturation pathway.

PubMed ID: 21285374

DOI: 10.1073/pnas.1013822108

PubMed ID: 23353889

Title: TET2 and TET3 regulate GlcNAcylation and H3K4 methylation through OGT and SET1/COMPASS.

PubMed ID: 23353889

DOI: 10.1038/emboj.2012.357

PubMed ID: 23629655

Title: Mixed lineage leukemia 5 (MLL5) protein regulates cell cycle progression and E2F1-responsive gene expression via association with host cell factor-1 (HCF-1).

PubMed ID: 23629655

DOI: 10.1074/jbc.m112.439729

PubMed ID: 28302723

Title: Identification and characterization of a missense mutation in the O-linked beta-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability.

PubMed ID: 28302723

DOI: 10.1074/jbc.m116.771030

PubMed ID: 28584052

Title: Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.

PubMed ID: 28584052

DOI: 10.1074/jbc.m117.790097

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 23000143

Title: A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability.

PubMed ID: 23000143

DOI: 10.1016/j.ajhg.2012.08.011

Sequence Information:

  • Length: 2035
  • Mass: 208732
  • Checksum: 0B0C581E2454631E
  • Sequence:
  • MASAVSPANL PAVLLQPRWK RVVGWSGPVP RPRHGHRAVA IKELIVVFGG GNEGIVDELH 
    VYNTATNQWF IPAVRGDIPP GCAAYGFVCD GTRLLVFGGM VEYGKYSNDL YELQASRWEW 
    KRLKAKTPKN GPPPCPRLGH SFSLVGNKCY LFGGLANDSE DPKNNIPRYL NDLYILELRP 
    GSGVVAWDIP ITYGVLPPPR ESHTAVVYTE KDNKKSKLVI YGGMSGCRLG DLWTLDIDTL 
    TWNKPSLSGV APLPRSLHSA TTIGNKMYVF GGWVPLVMDD VKVATHEKEW KCTNTLACLN 
    LDTMAWETIL MDTLEDNIPR ARAGHCAVAI NTRLYIWSGR DGYRKAWNNQ VCCKDLWYLE 
    TEKPPPPARV QLVRANTNSL EVSWGAVATA DSYLLQLQKY DIPATAATAT SPTPNPVPSV 
    PANPPKSPAP AAAAPAVQPL TQVGITLLPQ AAPAPPTTTT IQVLPTVPGS SISVPTAART 
    QGVPAVLKVT GPQATTGTPL VTMRPASQAG KAPVTVTSLP AGVRMVVPTQ SAQGTVIGSS 
    PQMSGMAALA AAAAATQKIP PSSAPTVLSV PAGTTIVKTM AVTPGTTTLP ATVKVASSPV 
    MVSNPATRML KTAAAQVGTS VSSATNTSTR PIITVHKSGT VTVAQQAQVV TTVVGGVTKT 
    ITLVKSPISV PGGSALISNL GKVMSVVQTK PVQTSAVTGQ ASTGPVTQII QTKGPLPAGT 
    ILKLVTSADG KPTTIITTTQ ASGAGTKPTI LGISSVSPST TKPGTTTIIK TIPMSAIITQ 
    AGATGVTSSP GIKSPITIIT TKVMTSGTGA PAKIITAVPK IATGHGQQGV TQVVLKGAPG 
    QPGTILRTVP MGGVRLVTPV TVSAVKPAVT TLVVKGTTGV TTLGTVTGTV STSLAGAGGH 
    STSASLATPI TTLGTIATLS SQVINPTAIT VSAAQTTLTA AGGLTTPTIT MQPVSQPTQV 
    TLITAPSGVE AQPVHDLPVS ILASPTTEQP TATVTIADSG QGDVQPGTVT LVCSNPPCET 
    HETGTTNTAT TTVVANLGGH PQPTQVQFVC DRQEAAASLV TSTVGQQNGS VVRVCSNPPC 
    ETHETGTTNT ATTATSNMAG QHGCSNPPCE THETGTTNTA TTAMSSVGAN HQRDARRACA 
    AGTPAVIRIS VATGALEAAQ GSKSQCQTRQ TSATSTTMTV MATGAPCSAG PLLGPSMARE 
    PGGRSPAFVQ LAPLSSKVRL SSPSIKDLPA GRHSHAVSTA AMTRSSVGAG EPRMAPVCES 
    LQGGSPSTTV TVTALEALLC PSATVTQVCS NPPCETHETG TTNTATTSNA GSAQRVCSNP 
    PCETHETGTT HTATTATSNG GTGQPEGGQQ PPAGRPCETH QTTSTGTTMS VSVGALLPDA 
    TSSHRTVESG LEVAAAPSVT PQAGTALLAP FPTQRVCSNP PCETHETGTT HTATTVTSNM 
    SSNQDPPPAA SDQGEVESTQ GDSVNITSSS AITTTVSSTL TRAVTTVTQS TPVPGPSVPP 
    PEELQVSPGP RQQLPPRQLL QSASTALMGE SAEVLSASQT PELPAAVDLS STGEPSSGQE 
    SAGSAVVATV VVQPPPPTQS EVDQLSLPQE LMAEAQAGTT TLMVTGLTPE ELAVTAAAEA 
    AAQAAATEEA QALAIQAVLQ AAQQAVMGTG EPMDTSEAAA TVTQAELGHL SAEGQEGQAT 
    TIPIVLTQQE LAALVQQQQL QEAQAQQQHH HLPTEALAPA DSLNDPAIES NCLNELAGTV 
    PSTVALLPST ATESLAPSNT FVAPQPVVVA SPAKLQAAAT LTEVANGIES LGVKPDLPPP 
    PSKAPMKKEN QWFDVGVIKG TNVMVTHYFL PPDDAVPSDD DLGTVPDYNQ LKKQELQPGT 
    AYKFRVAGIN ACGRGPFSEI SAFKTCLPGF PGAPCAIKIS KSPDGAHLTW EPPSVTSGKI 
    IEYSVYLAIQ SSQAGGELKS STPAQLAFMR VYCGPSPSCL VQSSSLSNAH IDYTTKPAII 
    FRIAARNEKG YGPATQVRWL QETSKDSSGT KPANKRPMSS PEMKSAPKKS KADGQ

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.