Details for: MARCHF6

Gene ID: 10299

Symbol: MARCHF6

Ensembl ID: ENSG00000145495

Description: membrane associated ring-CH-type finger 6

Associated with

Cells (max top 100)

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

  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 6.13
    Marker Score: 81,596
  • Cell Name: mononuclear phagocyte (CL0000113)
    Fold Change: 5
    Marker Score: 5,023
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 2.93
    Marker Score: 12,249
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 2.85
    Marker Score: 1,386
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 2.77
    Marker Score: 2,872
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 2.66
    Marker Score: 3,217
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.64
    Marker Score: 56,409
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 2.61
    Marker Score: 12,077
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.56
    Marker Score: 5,613
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 2.4
    Marker Score: 3,227
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.37
    Marker Score: 89,877
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 2.36
    Marker Score: 5,659
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.36
    Marker Score: 46,931
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 2.35
    Marker Score: 2,157
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.34
    Marker Score: 2,690
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.33
    Marker Score: 2,621
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.33
    Marker Score: 17,870
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.31
    Marker Score: 34,500
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.31
    Marker Score: 1,344
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 2.25
    Marker Score: 12,114
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.23
    Marker Score: 7,936
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 2.22
    Marker Score: 1,476
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.2
    Marker Score: 1,085
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 2.19
    Marker Score: 2,417
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.17
    Marker Score: 635
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.12
    Marker Score: 47,420
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.12
    Marker Score: 5,313
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.1
    Marker Score: 662
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.09
    Marker Score: 8,668
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.09
    Marker Score: 8,064
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 2.08
    Marker Score: 2,224
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 2.07
    Marker Score: 1,211
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.07
    Marker Score: 76,251
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 2.04
    Marker Score: 1,067
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.04
    Marker Score: 1,343
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 2.03
    Marker Score: 5,440
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 2.02
    Marker Score: 1,077
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.01
    Marker Score: 2,114
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.96
    Marker Score: 120,554
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 1.94
    Marker Score: 1,321
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.94
    Marker Score: 18,208
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.9
    Marker Score: 1,136
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1.87
    Marker Score: 2,016
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 1.86
    Marker Score: 25,033
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 1.84
    Marker Score: 1,024
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 1.84
    Marker Score: 1,643
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.83
    Marker Score: 1,558
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.83
    Marker Score: 3,856
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 1.82
    Marker Score: 15,852
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.82
    Marker Score: 17,320
  • Cell Name: lung ciliated cell (CL1000271)
    Fold Change: 1.82
    Marker Score: 864
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.81
    Marker Score: 1,924
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.81
    Marker Score: 18,715
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.79
    Marker Score: 1,266
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.79
    Marker Score: 60,920
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.79
    Marker Score: 1,705
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.77
    Marker Score: 3,409
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 1.77
    Marker Score: 562
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.76
    Marker Score: 984
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.76
    Marker Score: 15,145
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 1.76
    Marker Score: 1,029
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 1.74
    Marker Score: 341
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.73
    Marker Score: 2,160
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.7
    Marker Score: 966
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.7
    Marker Score: 6,905
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.69
    Marker Score: 569
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 1.69
    Marker Score: 888
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.68
    Marker Score: 2,030
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.67
    Marker Score: 2,835
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 1.66
    Marker Score: 1,688
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.66
    Marker Score: 3,372
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.66
    Marker Score: 2,052
  • Cell Name: effector memory CD4-positive, alpha-beta T cell (CL0000905)
    Fold Change: 1.65
    Marker Score: 1,211
  • Cell Name: podocyte (CL0000653)
    Fold Change: 1.65
    Marker Score: 609
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.63
    Marker Score: 2,402
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.61
    Marker Score: 4,056
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.61
    Marker Score: 384
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.6
    Marker Score: 1,423
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 1.59
    Marker Score: 459
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.59
    Marker Score: 1,103
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 1.59
    Marker Score: 1,223
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 1.58
    Marker Score: 1,495
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.57
    Marker Score: 877
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 1.56
    Marker Score: 532
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.56
    Marker Score: 883
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.55
    Marker Score: 1,035
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.55
    Marker Score: 1,657
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 1.53
    Marker Score: 2,915
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.53
    Marker Score: 377
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.53
    Marker Score: 639
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 1.52
    Marker Score: 2,519
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 1.52
    Marker Score: 527
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.52
    Marker Score: 2,339
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.51
    Marker Score: 442
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.5
    Marker Score: 3,658
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.49
    Marker Score: 379
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.49
    Marker Score: 342
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 1.49
    Marker Score: 602
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 1.49
    Marker Score: 7,298
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 1.47
    Marker Score: 1,275

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** MARCHF6 is a ubiquitin ligase that belongs to the MARCH family of E3 ubiquitin ligases. Its primary function is to recognize and ubiquitinate misfolded proteins, which are then targeted for degradation by the proteasome. MARCHF6 is specifically localized to the ER membrane, where it interacts with the ER-associated degradation (ERAD) pathway to maintain protein homeostasis. The protein exhibits high specificity for ubiquitinating proteins with a K48-linking motif, which is a hallmark of ER-associated ubiquitination. **Pathways and Functions:** MARCHF6 is integrated into several key pathways that regulate protein homeostasis and cellular stress response: 1. **ER-associated degradation (ERAD) pathway:** MARCHF6 interacts with the ERAD pathway to ubiquitinate misfolded proteins, which are then targeted for degradation by the proteasome. 2. **Calnexin/calreticulin cycle:** MARCHF6 is involved in the regulation of the calnexin/calreticulin cycle, a process that helps to maintain protein homeostasis by recognizing and ubiquitinating misfolded proteins. 3. **Proteasomal protein catabolic process:** MARCHF6 is a key component of the proteasomal protein catabolic process, which is responsible for degrading ubiquitinated proteins. 4. **N-glycan trimming in the ER and calnexin/calreticulin cycle:** MARCHF6 is involved in the regulation of N-glycan trimming in the ER, which is essential for maintaining protein homeostasis. **Functions:** MARCHF6 has several critical functions that contribute to maintaining protein homeostasis and responding to cellular stress: 1. **Recognition and ubiquitination of misfolded proteins:** MARCHF6 recognizes and ubiquitinates misfolded proteins, which are then targeted for degradation by the proteasome. 2. **Maintenance of ER homeostasis:** MARCHF6 helps to maintain ER homeostasis by regulating the ubiquitination and degradation of misfolded proteins. 3. **Regulation of protein homeostasis:** MARCHF6 plays a key role in regulating protein homeostasis by ubiquitinating and degrading misfolded proteins. 4. **Response to cellular stress:** MARCHF6 is involved in responding to cellular stress by ubiquitinating and degrading misfolded proteins. **Clinical Significance:** Dysregulation of MARCHF6 has been implicated in various disease states, including: 1. **Protein misfolding-related diseases:** MARCHF6 has been linked to protein misfolding-related diseases, such as Alzheimer's disease and Parkinson's disease. 2. **ER stress:** MARCHF6 has been implicated in ER stress, which is a hallmark of various disease states, including cancer and neurodegenerative disorders. 3. **Cancer:** MARCHF6 has been shown to be overexpressed in certain types of cancer, suggesting its potential role in tumorigenesis. 4. **Neurodegenerative disorders:** MARCHF6 has been implicated in neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. In conclusion, MARCHF6 is a critical E3 ubiquitin ligase that plays a pivotal role in maintaining protein homeostasis and responding to cellular stress. Its dysregulation has been implicated in various disease states, highlighting the importance of further research into the functions and mechanisms of MARCHF6.

Genular Protein ID: 3369775090

Symbol: MARH6_HUMAN

Name: E3 ubiquitin-protein ligase MARCHF6

UniProtKB Accession Codes:

O60337 A5PKZ4 B4DKJ2 B4DT33 D3DTC8 O14670 Q86X77

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 ChEBI 8 ChiTaRS 1 DIP 1 DNASU 1 DisGeNET 1 EC 1 EMBL 13 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 16 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9628581

Title: Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

PubMed ID: 9628581

DOI: 10.1093/dnares/5.1.31

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 11641273

Title: A conserved ubiquitin ligase of the nuclear envelope/endoplasmic reticulum that functions in both ER-associated and Matalpha2 repressor degradation.

PubMed ID: 11641273

DOI: 10.1101/gad.933301

PubMed ID: 15673284

Title: TEB4 is a C4HC3 RING finger-containing ubiquitin ligase of the endoplasmic reticulum.

PubMed ID: 15673284

DOI: 10.1042/bj20041241

PubMed ID: 16373356

Title: Membrane topology of the yeast endoplasmic reticulum-localized ubiquitin ligase Doa10 and comparison with its human ortholog TEB4 (MARCH-VI).

PubMed ID: 16373356

DOI: 10.1074/jbc.m512215200

PubMed ID: 19651899

Title: The E3 ubiquitin ligase TEB4 mediates degradation of type 2 iodothyronine deiodinase.

PubMed ID: 19651899

DOI: 10.1128/mcb.01498-08

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: 24449766

Title: The E3 ubiquitin ligase MARCH6 degrades squalene monooxygenase and affects 3-hydroxy-3-methyl-glutaryl coenzyme A reductase and the cholesterol synthesis pathway.

PubMed ID: 24449766

DOI: 10.1128/mcb.01140-13

PubMed ID: 31664039

Title: Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3.

PubMed ID: 31664039

DOI: 10.1038/s41467-019-12763-9

Sequence Information:

  • Length: 910
  • Mass: 102545
  • Checksum: C7A96FEA45B5CA8D
  • Sequence:
    • MDTAEEDICR VCRSEGTPEK PLYHPCVCTG SIKFIHQECL VQWLKHSRKE YCELCKHRFA 
FTPIYSPDMP SRLPIQDIFA GLVTSIGTAI RYWFHYTLVA FAWLGVVPLT ACRIYKCLFT 
GSVSSLLTLP LDMLSTENLL ADCLQGCFVV TCTLCAFISL VWLREQIVHG GAPIWLEHAA 
PPFNAAGHHQ NEAPAGGNGA ENVAADQPAN PPAENAVVGE NPDAQDDQAE EEEEDNEEED 
DAGVEDAADA NNGAQDDMNW NALEWDRAAE ELTWERMLGL DGSLVFLEHV FWVVSLNTLF 
ILVFAFCPYH IGHFSLVGLG FEEHVQASHF EGLITTIVGY ILLAITLIIC HGLATLVKFH 
RSRRLLGVCY IVVKVSLLVV VEIGVFPLIC GWWLDICSLE MFDATLKDRE LSFQSAPGTT 
MFLHWLVGMV YVFYFASFIL LLREVLRPGV LWFLRNLNDP DFNPVQEMIH LPIYRHLRRF 
ILSVIVFGSI VLLMLWLPIR IIKSVLPNFL PYNVMLYSDA PVSELSLELL LLQVVLPALL 
EQGHTRQWLK GLVRAWTVTA GYLLDLHSYL LGDQEENENS ANQQVNNNQH ARNNNAIPVV 
GEGLHAAHQA ILQQGGPVGF QPYRRPLNFP LRIFLLIVFM CITLLIASLI CLTLPVFAGR 
WLMSFWTGTA KIHELYTAAC GLYVCWLTIR AVTVMVAWMP QGRRVIFQKV KEWSLMIMKT 
LIVAVLLAGV VPLLLGLLFE LVIVAPLRVP LDQTPLFYPW QDWALGVLHA KIIAAITLMG 
PQWWLKTVIE QVYANGIRNI DLHYIVRKLA APVISVLLLS LCVPYVIASG VVPLLGVTAE 
MQNLVHRRIY PFLLMVVVLM AILSFQVRQF KRLYEHIKND KYLVGQRLVN YERKSGKQGS 
SPPPPQSSQE

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.