Details for: VPS51

Gene ID: 738

Symbol: VPS51

Ensembl ID: ENSG00000149823

Description: VPS51 subunit of GARP complex

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: 295.0910
    Cell Significance Index: -45.9000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 156.9526
    Cell Significance Index: -39.8100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 111.3482
    Cell Significance Index: -52.5700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 107.7150
    Cell Significance Index: -43.7600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 99.5169
    Cell Significance Index: -51.1900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 78.3283
    Cell Significance Index: -52.5600
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 46.1171
    Cell Significance Index: -44.0300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 40.0582
    Cell Significance Index: -49.3900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 17.3693
    Cell Significance Index: -46.5300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 13.0916
    Cell Significance Index: -51.6600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.4104
    Cell Significance Index: -31.9800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.8870
    Cell Significance Index: -19.4500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 3.0219
    Cell Significance Index: 491.4800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.7585
    Cell Significance Index: 1587.7900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.6688
    Cell Significance Index: 107.6700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 1.5683
    Cell Significance Index: 73.1200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.4047
    Cell Significance Index: 181.4800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.3970
    Cell Significance Index: 19.0600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.3478
    Cell Significance Index: 61.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 1.2150
    Cell Significance Index: 32.5000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.1495
    Cell Significance Index: 157.8600
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.1132
    Cell Significance Index: 16.6800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.9520
    Cell Significance Index: 171.6100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.8743
    Cell Significance Index: 95.1000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8295
    Cell Significance Index: 102.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8165
    Cell Significance Index: 23.5300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8090
    Cell Significance Index: 162.2900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.7923
    Cell Significance Index: 157.2300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.7702
    Cell Significance Index: 36.2000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.7686
    Cell Significance Index: 531.6200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7226
    Cell Significance Index: 319.5000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.6730
    Cell Significance Index: 47.6000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5844
    Cell Significance Index: 319.1400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5663
    Cell Significance Index: 66.7800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5356
    Cell Significance Index: 27.9000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5213
    Cell Significance Index: 27.0800
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.4646
    Cell Significance Index: 13.6500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4491
    Cell Significance Index: 161.0700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3888
    Cell Significance Index: 28.9800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3654
    Cell Significance Index: 9.9500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3645
    Cell Significance Index: 7.6300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3345
    Cell Significance Index: 42.8800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2968
    Cell Significance Index: 50.6800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2877
    Cell Significance Index: 8.0400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2704
    Cell Significance Index: 17.0400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2454
    Cell Significance Index: 46.7000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.2202
    Cell Significance Index: 1.8500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2064
    Cell Significance Index: 15.8400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.1931
    Cell Significance Index: 6.7100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1216
    Cell Significance Index: 12.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0986
    Cell Significance Index: 3.4700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0724
    Cell Significance Index: 3.8000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0407
    Cell Significance Index: 76.6500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0201
    Cell Significance Index: 37.1200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0188
    Cell Significance Index: 28.9700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0157
    Cell Significance Index: 0.4200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0030
    Cell Significance Index: -1.9100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0131
    Cell Significance Index: -9.5900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0167
    Cell Significance Index: -12.6600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0227
    Cell Significance Index: -30.8800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0340
    Cell Significance Index: -2.0900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0417
    Cell Significance Index: -18.9100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0620
    Cell Significance Index: -45.9300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0696
    Cell Significance Index: -7.1100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0741
    Cell Significance Index: -1.2400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0838
    Cell Significance Index: -47.2700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0909
    Cell Significance Index: -56.7700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1119
    Cell Significance Index: -1.0300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1402
    Cell Significance Index: -16.3400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1496
    Cell Significance Index: -43.0400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1552
    Cell Significance Index: -1.8500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1879
    Cell Significance Index: -27.3200
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2311
    Cell Significance Index: -3.9600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2513
    Cell Significance Index: -14.1000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.2622
    Cell Significance Index: -17.6300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2635
    Cell Significance Index: -30.1900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2704
    Cell Significance Index: -7.1100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2781
    Cell Significance Index: -58.5900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3359
    Cell Significance Index: -8.5800
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.3532
    Cell Significance Index: -3.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4168
    Cell Significance Index: -9.0300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4458
    Cell Significance Index: -46.4200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4534
    Cell Significance Index: -12.1500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.4553
    Cell Significance Index: -20.1400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4597
    Cell Significance Index: -36.4100
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.4768
    Cell Significance Index: -8.4300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.5577
    Cell Significance Index: -21.1200
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.5582
    Cell Significance Index: -16.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.6062
    Cell Significance Index: -12.9100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6131
    Cell Significance Index: -15.7600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.6751
    Cell Significance Index: -5.3900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7156
    Cell Significance Index: -43.8700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.8283
    Cell Significance Index: -8.5800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.8406
    Cell Significance Index: -9.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.8591
    Cell Significance Index: -27.5200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.8809
    Cell Significance Index: -18.8300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.8960
    Cell Significance Index: -26.3900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.0469
    Cell Significance Index: -26.1700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.0606
    Cell Significance Index: -33.7800
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -1.1021
    Cell Significance Index: -31.4500

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** VPS51 is a member of the VPS (Vacuolar protein sorting-associated protein) family, which is known for its involvement in protein sorting and trafficking within the cell. The GARP complex, to which VPS51 belongs, is a heterotrimeric complex consisting of VPS51, GARP (Golgi-associated retrograde protein), and a third component, which is not specified in this context. VPS51 has been shown to interact with various proteins and lipids, suggesting its role in regulating membrane trafficking and protein sorting. One of the key characteristics of VPS51 is its ability to bind to specific proteins and lipids, facilitating their transport within the cell. This binding capacity is crucial for maintaining cellular homeostasis and regulating the trafficking of essential proteins and lipids. Additionally, VPS51 has been implicated in the regulation of autophagy, a process essential for cellular homeostasis and survival. **Pathways and Functions** VPS51 is involved in several cellular pathways, including: 1. **Autophagy**: VPS51 plays a critical role in regulating autophagy, a process by which cells recycle damaged or dysfunctional components. The GARP complex, to which VPS51 belongs, is involved in the formation and maturation of autophagosomes, which are the cellular structures responsible for autophagy. 2. **Golgi organization**: VPS51 is involved in regulating the organization and trafficking of proteins and lipids within the Golgi apparatus, a complex organelle responsible for protein modification, sorting, and packaging. 3. **Membrane trafficking**: VPS51 is involved in regulating the trafficking of proteins and lipids within the cell, including endocytic recycling, exocytic transport, and vesicle-mediated transport. 4. **Protein targeting**: VPS51 is involved in regulating the targeting of proteins to specific cellular compartments, including the Golgi apparatus, endoplasmic reticulum, and lysosomes. **Clinical Significance** Dysregulation of VPS51 has been implicated in various diseases, including: 1. **Autophagy-related disorders**: Mutations in the VPS51 gene have been associated with autophagy-related disorders, such as type 2A Fanconi anemia and autosomal recessive polycystic kidney disease. 2. **Cancer**: VPS51 has been implicated in cancer development and progression, particularly in the regulation of autophagy and membrane trafficking. 3. **Neurodegenerative diseases**: VPS51 has been implicated in the regulation of autophagy and membrane trafficking in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease. In conclusion, VPS51 is a critical component of the GARP complex, a multifunctional protein complex involved in various cellular processes, including autophagy, Golgi organization, and membrane trafficking. Its dysregulation has been implicated in various diseases, highlighting the importance of this gene in maintaining cellular homeostasis and regulating cellular function.

Genular Protein ID: 4034449102

Symbol: VPS51_HUMAN

Name: Vacuolar protein sorting-associated protein 51 homolog

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 9615229

Title: Identification and molecular characterization of TM7SF2 in the FAUNA gene cluster on human chromosome 11q13.

PubMed ID: 9615229

DOI: 10.1006/geno.1998.5296

PubMed ID: 15498874

Title: Large-scale cDNA transfection screening for genes related to cancer development and progression.

PubMed ID: 15498874

DOI: 10.1073/pnas.0404089101

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

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: 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: 20685960

Title: Ang2/fat-free is a conserved subunit of the Golgi-associated retrograde protein complex.

PubMed ID: 20685960

DOI: 10.1091/mbc.e10-05-0392

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

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: 25799061

Title: EARP is a multisubunit tethering complex involved in endocytic recycling.

PubMed ID: 25799061

DOI: 10.1038/ncb3129

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27440922

Title: TSSC1 is novel component of the endosomal retrieval machinery.

PubMed ID: 27440922

DOI: 10.1091/mbc.e16-04-0209

PubMed ID: 31721635

Title: EIPR1 controls dense-core vesicle cargo retention and EARP complex localization in insulin-secreting cells.

PubMed ID: 31721635

DOI: 10.1091/mbc.e18-07-0469

PubMed ID: 30624672

Title: A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes.

PubMed ID: 30624672

DOI: 10.1093/hmg/ddy423

PubMed ID: 31207318

Title: VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

PubMed ID: 31207318

DOI: 10.1016/j.ejmg.2019.103704

Sequence Information:

  • Length: 782
  • Mass: 86042
  • Checksum: 0E858672E4C656DD
  • Sequence:
  • MAAAAAAGPS PGSGPGDSPE GPEGEAPERR RKAHGMLKLY YGLSEGEAAG RPAGPDPLDP 
    TDLNGAHFDP EVYLDKLRRE CPLAQLMDSE TDMVRQIRAL DSDMQTLVYE NYNKFISATD 
    TIRKMKNDFR KMEDEMDRLA TNMAVITDFS ARISATLQDR HERITKLAGV HALLRKLQFL 
    FELPSRLTKC VELGAYGQAV RYQGRAQAVL QQYQHLPSFR AIQDDCQVIT ARLAQQLRQR 
    FREGGSGAPE QAECVELLLA LGEPAEELCE EFLAHARGRL EKELRNLEAE LGPSPPAPDV 
    LEFTDHGGSG FVGGLCQVAA AYQELFAAQG PAGAEKLAAF ARQLGSRYFA LVERRLAQEQ 
    GGGDNSLLVR ALDRFHRRLR APGALLAAAG LADAATEIVE RVARERLGHH LQGLRAAFLG 
    CLTDVRQALA APRVAGKEGP GLAELLANVA SSILSHIKAS LAAVHLFTAK EVSFSNKPYF 
    RGEFCSQGVR EGLIVGFVHS MCQTAQSFCD SPGEKGGATP PALLLLLSRL CLDYETATIS 
    YILTLTDEQF LVQDQFPVTP VSTLCAEARE TARRLLTHYV KVQGLVISQM LRKSVETRDW 
    LSTLEPRNVR AVMKRVVEDT TAIDVQVGLL YEEGVRKAQS SDSSKRTFSV YSSSRQQGRY 
    APSYTPSAPM DTNLLSNIQK LFSERIDVFS PVEFNKVSVL TGIIKISLKT LLECVRLRTF 
    GRFGLQQVQV DCHFLQLYLW RFVADEELVH LLLDEVVASA ALRCPDPVPM EPSVVEVICE 
    RG

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.