Details for: CHML

Gene ID: 1122

Symbol: CHML

Ensembl ID: ENSG00000203668

Description: CHM like Rab escort protein

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: 105.1784
    Cell Significance Index: -16.3600
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 64.0269
    Cell Significance Index: -16.2400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 31.9799
    Cell Significance Index: -16.4500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 14.1043
    Cell Significance Index: -17.3900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.4916
    Cell Significance Index: -17.3900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.4779
    Cell Significance Index: -17.6700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.9536
    Cell Significance Index: 860.9900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8837
    Cell Significance Index: 57.0200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.8810
    Cell Significance Index: 19.2900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.7871
    Cell Significance Index: 157.9000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7204
    Cell Significance Index: 78.3600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6971
    Cell Significance Index: 41.8500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.6803
    Cell Significance Index: 110.6500
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.6122
    Cell Significance Index: 37.6300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4614
    Cell Significance Index: 23.9700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 0.4607
    Cell Significance Index: 3.8700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3794
    Cell Significance Index: 26.2400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3643
    Cell Significance Index: 20.4400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.3392
    Cell Significance Index: 8.9200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.2992
    Cell Significance Index: 7.1800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.2481
    Cell Significance Index: 71.4000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2156
    Cell Significance Index: 21.3300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2045
    Cell Significance Index: 4.4300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1767
    Cell Significance Index: 8.0100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1687
    Cell Significance Index: 74.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1521
    Cell Significance Index: 18.7100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1454
    Cell Significance Index: 4.1900
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1441
    Cell Significance Index: 25.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1344
    Cell Significance Index: 18.4600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1135
    Cell Significance Index: 8.0300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1111
    Cell Significance Index: 60.6800
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.1060
    Cell Significance Index: 1.6400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: 0.0793
    Cell Significance Index: 1.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0729
    Cell Significance Index: 26.1600
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0628
    Cell Significance Index: 1.4500
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0486
    Cell Significance Index: 8.3000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0232
    Cell Significance Index: 4.4200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0224
    Cell Significance Index: 0.6000
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0085
    Cell Significance Index: 0.3000
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.0070
    Cell Significance Index: 0.0800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0011
    Cell Significance Index: 2.0600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0027
    Cell Significance Index: -1.9600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0053
    Cell Significance Index: -8.2100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0064
    Cell Significance Index: -8.6500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0077
    Cell Significance Index: -5.7000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0083
    Cell Significance Index: -15.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0086
    Cell Significance Index: -5.3600
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0088
    Cell Significance Index: -1.1300
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0118
    Cell Significance Index: -1.3500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0141
    Cell Significance Index: -1.0500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0173
    Cell Significance Index: -9.7800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0182
    Cell Significance Index: -0.8500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0186
    Cell Significance Index: -0.3900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0191
    Cell Significance Index: -14.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0226
    Cell Significance Index: -1.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0238
    Cell Significance Index: -15.1400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0246
    Cell Significance Index: -1.2400
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0344
    Cell Significance Index: -2.1700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0370
    Cell Significance Index: -16.7900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0372
    Cell Significance Index: -7.8400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0416
    Cell Significance Index: -4.2500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0420
    Cell Significance Index: -5.4300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0449
    Cell Significance Index: -1.2000
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0534
    Cell Significance Index: -0.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0561
    Cell Significance Index: -6.4300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0589
    Cell Significance Index: -0.8700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0788
    Cell Significance Index: -9.1800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0899
    Cell Significance Index: -2.8800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0905
    Cell Significance Index: -6.9500
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0944
    Cell Significance Index: -2.0100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0960
    Cell Significance Index: -1.3100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0961
    Cell Significance Index: -3.3400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0962
    Cell Significance Index: -11.3500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1010
    Cell Significance Index: -2.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1109
    Cell Significance Index: -16.1200
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1132
    Cell Significance Index: -4.6400
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.1326
    Cell Significance Index: -1.7000
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.1347
    Cell Significance Index: -2.2600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1700
    Cell Significance Index: -17.7000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1735
    Cell Significance Index: -13.7400
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.1817
    Cell Significance Index: -1.9800
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.1882
    Cell Significance Index: -1.6000
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2167
    Cell Significance Index: -4.4100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2230
    Cell Significance Index: -13.6700
  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: -0.2462
    Cell Significance Index: -1.5300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2593
    Cell Significance Index: -8.4900
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2701
    Cell Significance Index: -4.6700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2740
    Cell Significance Index: -7.8600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2796
    Cell Significance Index: -7.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2872
    Cell Significance Index: -15.0800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2887
    Cell Significance Index: -4.3500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.2888
    Cell Significance Index: -2.9900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.3093
    Cell Significance Index: -7.9500
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3143
    Cell Significance Index: -5.8100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3143
    Cell Significance Index: -10.0100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3157
    Cell Significance Index: -11.0600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.3368
    Cell Significance Index: -7.0300
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3597
    Cell Significance Index: -9.1900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: -0.3696
    Cell Significance Index: -3.8500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.3791
    Cell Significance Index: -4.1300

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:** The CHML protein exhibits several key characteristics that highlight its importance in cellular processes: 1. **Rab escort protein**: CHML functions as a Rab escort protein, which is essential for the proper targeting and localization of Rab GTPases to specific membranes. 2. **Geranylgeranylation**: CHML facilitates the geranylgeranylation of Rab GTPases, a post-translational modification that is critical for their membrane targeting and function. 3. **Membrane trafficking**: CHML is involved in regulating membrane trafficking, including vesicle-mediated transport and protein secretion. 4. **Protein modification**: CHML plays a role in protein modification, including post-translational protein modification and protein geranylgeranylation. 5. **Significant expression**: CHML is significantly expressed in various cell types, including GABAergic neurons, glandular epithelial cells, and intestinal crypt stem cells. **Pathways and Functions:** The CHML protein is involved in several key pathways and processes, including: 1. **Cytoplasmic and cytosolic trafficking**: CHML regulates the trafficking of proteins and lipids within the cytoplasm and cytosol. 2. **GDP-dissociation inhibitor activity**: CHML acts as a GDP-dissociation inhibitor, facilitating the exchange of GDP for GTP on Rab GTPases. 3. **GTPase activator activity**: CHML exhibits GTPase activator activity, which enhances the GTPase activity of Rab GTPases. 4. **Intracellular protein transport**: CHML regulates the transport of proteins within the cell, including vesicle-mediated transport and protein secretion. 5. **Membrane trafficking**: CHML is involved in regulating membrane trafficking, including endocytosis, exocytosis, and vesicle-mediated transport. **Clinical Significance:** The CHML gene and its protein product have significant clinical implications, particularly in the context of disorders related to membrane trafficking and protein modification. For example: 1. **Neurological disorders**: Dysregulation of CHML has been implicated in various neurological disorders, including Alzheimer's disease and Parkinson's disease. 2. **Cancer**: CHML has been found to be overexpressed in certain types of cancer, including breast and lung cancer. 3. **Immunological disorders**: CHML plays a role in regulating immune cell function and has been implicated in immunological disorders, including autoimmune diseases. In conclusion, the CHML gene encodes a protein that plays a critical role in membrane trafficking and protein modification. Its dysregulation has significant clinical implications, particularly in the context of neurological disorders, cancer, and immunological disorders. Further research is needed to fully understand the mechanisms by which CHML regulates membrane trafficking and protein modification, and to explore its potential as a therapeutic target in various diseases.

Genular Protein ID: 582030672

Symbol: RAE2_HUMAN

Name: Rab proteins geranylgeranyltransferase component A 2

UniProtKB Accession Codes:

P26374 B2RAB9 Q17RE0 Q9H1Y4

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 12 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PIR 1 PIRSF 1 PRINTS 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1301160

Title: An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q.

PubMed ID: 1301160

DOI: 10.1093/hmg/1.2.71

PubMed ID: 12242008

Title: Different structural organization of the encephalopsin gene in man and mouse.

PubMed ID: 12242008

DOI: 10.1016/s0378-1119(02)00799-0

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 8294464

Title: REP-2, a Rab escort protein encoded by the choroideremia-like gene.

PubMed ID: 8294464

DOI: 10.1016/s0021-9258(17)42142-9

PubMed ID: 12356470

Title: Expression of mammalian Rab Escort protein-1 and -2 in yeast Saccharomyces cerevisiae.

PubMed ID: 12356470

DOI: 10.1016/s1046-5928(02)00506-5

PubMed ID: 15186776

Title: Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.

PubMed ID: 15186776

DOI: 10.1016/j.cell.2004.05.017

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 26824392

Title: Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases.

PubMed ID: 26824392

DOI: 10.7554/elife.12813

PubMed ID: 29125462

Title: Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis.

PubMed ID: 29125462

DOI: 10.7554/elife.31012

Sequence Information:

  • Length: 656
  • Mass: 74071
  • Checksum: 478481966E30BE49
  • Sequence:
    • MADNLPTEFD VVIIGTGLPE SILAAACSRS GQRVLHIDSR SYYGGNWASF SFSGLLSWLK 
EYQQNNDIGE ESTVVWQDLI HETEEAITLR KKDETIQHTE AFCYASQDME DNVEEIGALQ 
KNPSLGVSNT FTEVLDSALP EESQLSYFNS DEMPAKHTQK SDTEISLEVT DVEESVEKEK 
YCGDKTCMHT VSDKDGDKDE SKSTVEDKAD EPIRNRITYS QIVKEGRRFN IDLVSKLLYS 
QGLLIDLLIK SDVSRYVEFK NVTRILAFRE GKVEQVPCSR ADVFNSKELT MVEKRMLMKF 
LTFCLEYEQH PDEYQAFRQC SFSEYLKTKK LTPNLQHFVL HSIAMTSESS CTTIDGLNAT 
KNFLQCLGRF GNTPFLFPLY GQGEIPQGFC RMCAVFGGIY CLRHKVQCFV VDKESGRCKA 
IIDHFGQRIN AKYFIVEDSY LSEETCSNVQ YKQISRAVLI TDQSILKTDL DQQTSILIVP 
PAEPGACAVR VTELCSSTMT CMKDTYLVHL TCSSSKTARE DLESVVKKLF TPYTETEINE 
EELTKPRLLW ALYFNMRDSS GISRSSYNGL PSNVYVCSGP DCGLGNEHAV KQAETLFQEI 
FPTEEFCPPP PNPEDIIFDG DDKQPEAPGT NNVVMAKLES SEESKNLESP EKHLQN

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.