Details for: CHM

Gene ID: 1121

Symbol: CHM

Ensembl ID: ENSG00000188419

Description: CHM Rab escort protein

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: lens epithelial cell (CL0002224)
    Fold Change: 1.91
    Marker Score: 2314
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.91
    Marker Score: 72474
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.83
    Marker Score: 14045
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 1.82
    Marker Score: 36267
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.82
    Marker Score: 7025
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.75
    Marker Score: 107548
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 1.74
    Marker Score: 64178
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.73
    Marker Score: 25803
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 1.73
    Marker Score: 3788
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.71
    Marker Score: 16242
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.7
    Marker Score: 15987
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.69
    Marker Score: 7065
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.69
    Marker Score: 14491
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.66
    Marker Score: 17176
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 1.64
    Marker Score: 1883.5
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.58
    Marker Score: 926
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 1.56
    Marker Score: 6478
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.52
    Marker Score: 638
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.52
    Marker Score: 6196
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.51
    Marker Score: 6964
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.48
    Marker Score: 2289
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 1.4
    Marker Score: 47186.5
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.38
    Marker Score: 1315
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.37
    Marker Score: 1840.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 1.35
    Marker Score: 28817
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.34
    Marker Score: 392
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 1.28
    Marker Score: 2470
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 1.23
    Marker Score: 731.5
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.23
    Marker Score: 387
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.22
    Marker Score: 333
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.21
    Marker Score: 599
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 1.19
    Marker Score: 1312
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 1.05
    Marker Score: 612
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.04
    Marker Score: 18426
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 1.03
    Marker Score: 827
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 1.03
    Marker Score: 578.5
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.01
    Marker Score: 390
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 1.01
    Marker Score: 3600
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 1
    Marker Score: 1081
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71692
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47916.5
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30391
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.98
    Marker Score: 8597
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.97
    Marker Score: 1211
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.95
    Marker Score: 1921
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.94
    Marker Score: 352
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2394
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 479
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 437
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.92
    Marker Score: 484
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.92
    Marker Score: 2192
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.91
    Marker Score: 20424.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.91
    Marker Score: 703
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.91
    Marker Score: 1092.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2699
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.9
    Marker Score: 446
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.89
    Marker Score: 516
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.88
    Marker Score: 30517
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.87
    Marker Score: 919
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 309
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 0.85
    Marker Score: 4553
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.84
    Marker Score: 4809
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.83
    Marker Score: 306
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.82
    Marker Score: 835
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.82
    Marker Score: 446
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.82
    Marker Score: 1012
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.81
    Marker Score: 450
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.8
    Marker Score: 2155
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.8
    Marker Score: 389
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.8
    Marker Score: 1129
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.8
    Marker Score: 27105.5
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.79
    Marker Score: 288
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.79
    Marker Score: 606
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.79
    Marker Score: 317
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.78
    Marker Score: 719
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.78
    Marker Score: 266
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.78
    Marker Score: 248
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1264
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.77
    Marker Score: 12410
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.76
    Marker Score: 521
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.76
    Marker Score: 285
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.75
    Marker Score: 970
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.75
    Marker Score: 800
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.74
    Marker Score: 930.5
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.74
    Marker Score: 1676
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 0.73
    Marker Score: 417
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.73
    Marker Score: 1073
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 0.72
    Marker Score: 543
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 374
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.72
    Marker Score: 270
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.71
    Marker Score: 206
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.71
    Marker Score: 1337
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7
    Marker Score: 11007
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2947.5
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.7
    Marker Score: 606
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 0.7
    Marker Score: 1722
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.7
    Marker Score: 4502
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 0.7
    Marker Score: 364
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.7
    Marker Score: 282

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Other Information

**Key characteristics** * The CHM gene is located on chromosome 19q21.1. * The protein is a large protein, with a molecular weight of approximately 1100 kDa. * The protein is a member of the Rab family of GTP-coupled protein kinases. * The protein is involved in the regulation of protein trafficking between the ER and the Golgi apparatus. **Pathways and functions** The CHM gene is involved in a variety of cellular pathways, including: * **Gdp-dissociation inhibitor activity:** The CHM protein is a Gdp-dissociation inhibitor, which means that it can bind to and inhibit the activity of Gdp-dependent protein kinases (GDPKs). GPDKs are enzymes that are involved in the regulation of protein trafficking between the ER and the Golgi apparatus. * **Gene expression (transcription):** The CHM gene is involved in the regulation of gene expression. It is a target for the transcription factor TP53, which is a tumor suppressor protein that is involved in the regulation of cell death. * **Generic transcription pathway:** The CHM protein is also involved in the generic transcription pathway, which is a pathway that is involved in the regulation of gene expression in all cells. * **Gtpase activator activity:** The CHM protein is also involved in the regulation of G protein-coupled protein kinases (GPCRs), which are a class of proteins that are involved in the regulation of cell signaling. **Clinical significance** The CHM gene has been linked to a number of human diseases, including: * **Multiple sclerosis:** Mutations in the CHM gene have been linked to multiple sclerosis, a chronic autoimmune disease that affects the central nervous system. * **Neurodegenerative disorders:** Mutations in the CHM gene have also been linked to a number of neurodegenerative disorders, such as Alzheimer's disease and Parkinson's disease. * **Cancer:** Mutations in the CHM gene have also been linked to cancer. The CHM gene is a promising target for the treatment of human diseases.

Genular Protein ID: 3113907263

Symbol: RAE1_HUMAN

Name: Rab proteins geranylgeranyltransferase component A 1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 7981670

Title: Cloning and characterization of the human choroideremia gene.

PubMed ID: 7981670

DOI: 10.1093/hmg/3.7.1041

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: 1549574

Title: Isolation of a candidate gene for choroideremia.

PubMed ID: 1549574

DOI: 10.1073/pnas.89.6.2135

PubMed ID: 2215697

Title: Cloning of a gene that is rearranged in patients with choroideraemia.

PubMed ID: 2215697

DOI: 10.1038/347674a0

PubMed ID: 1598901

Title: Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing.

PubMed ID: 1598901

PubMed ID: 1904992

Title: Analysis of choroideraemia gene.

PubMed ID: 1904992

DOI: 10.1038/351614b0

PubMed ID: 7957092

Title: Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes.

PubMed ID: 7957092

DOI: 10.1002/j.1460-2075.1994.tb06860.x

PubMed ID: 18532927

Title: Rab geranylgeranylation occurs preferentially via the pre-formed REP-RGGT complex and is regulated by geranylgeranyl pyrophosphate.

PubMed ID: 18532927

DOI: 10.1042/bj20080662

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: 21905166

Title: Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase.

PubMed ID: 21905166

DOI: 10.1002/humu.21591

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: 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

PubMed ID: 7951216

Title: Missense mutation in the choroideremia gene.

PubMed ID: 7951216

DOI: 10.1093/hmg/3.6.1017

PubMed ID: 19427510

Title: The functional effect of pathogenic mutations in Rab escort protein 1.

PubMed ID: 19427510

DOI: 10.1016/j.mrfmmm.2009.02.015

Sequence Information:

  • Length: 653
  • Mass: 73476
  • Checksum: 7CFFAECE7BA1F3AF
  • Sequence:
  • MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF SFSGLLSWLK 
    EYQENSDIVS DSPVWQDQIL ENEEAIALSR KDKTIQHVEV FCYASQDLHE DVEEAGALQK 
    NHALVTSANS TEAADSAFLP TEDESLSTMS CEMLTEQTPS SDPENALEVN GAEVTGEKEN 
    HCDDKTCVPS TSAEDMSENV PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG 
    LLIDLLIKSN VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT 
    FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS TIDGLKATKN 
    FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL RHSVQCLVVD KESRKCKAII 
    DQFGQRIISE HFLVEDSYFP ENMCSRVQYR QISRAVLITD RSVLKTDSDQ QISILTVPAE 
    EPGTFAVRVI ELCSSTMTCM KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ 
    VEKPRILWAL YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP 
    NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE SSE

Genular Protein ID: 3829388678

Symbol: B4DRL9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 505
  • Mass: 57265
  • Checksum: 15F801C543052012
  • Sequence:
  • MSCEMLTEQT PSSDPENALE VNGAEVTGEK ENHCDDKTCV PSTSAEDMSE NVPIAEDTTE 
    QPKKNRITYS QIIKEGRRFN IDLVSKLLYS RGLLIDLLIK SNVSRYAEFK NITRILAFRE 
    GRVEQVPCSR ADVFNSKQLT MVEKRMLMKF LTFCMEYEKY PDEYKGYEEI TFYEYLKTQK 
    LTPNLQYIVM HSIAMTSETA SSTIDGLKAT KNFLHCLGRY GNTPFLFPLY GQGELPQCFC 
    RMCAVFGGIY CLRHSVQCLV VDKESRKCKA IIDQFGQRII SEHFLVEDSY FPENMCSRVQ 
    YRQISRAVLI TDRSVLKTDS DQQISILTVP AEEPGTFAVR VIELCSSTMT CMKGTYLVHL 
    TCTSSKTARE DLESVVQKLF VPYTEMEIEN EQVEKPRILW ALYFNMRDSS DISRSCYNDL 
    PSNVYVCSGP DCGLGNDNAV KQAETLFQEI CPNEDFCPPP PNPEDIILDG DSLQPEASES 
    SAIPEANSET FKESTNLGNL EESSE

Genular Protein ID: 2027369497

Symbol: A8K545_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 653
  • Mass: 73492
  • Checksum: ED59BECE7E32A271
  • Sequence:
  • MADTLPSEFD VIVIGTGLPE SIIAAACSRS GRRVLHVDSR SYYGGNWASF SFSGLLSWLK 
    EYQENSDIVS DSPVWQDQIL ENEEAIALCR KDKTIQHVEV FCYASQDLHE DVEEAGALQK 
    NHALVTSANS TEAADSAFLP TEDESLSTMS CEMLTEQTPS SDPENALEVN GAEVTGEKEN 
    HCDDKTCVPS TSAEDMSENV PIAEDTTEQP KKNRITYSQI IKEGRRFNID LVSKLLYSRG 
    LLIDLLIKSN VSRYAEFKNI TRILAFREGR VEQVPCSRAD VFNSKQLTMV EKRMLMKFLT 
    FCMEYEKYPD EYKGYEEITF YEYLKTQKLT PNLQYIVMHS IAMTSETASS TIDGLKATKN 
    FLHCLGRYGN TPFLFPLYGQ GELPQCFCRM CAVFGGIYCL RHSVQCLVVD KESRKCKAII 
    DQFGQRIISE HFLVEDSYFP ENMCSRVQYR QISRAVLITD RSVLKTDSDQ QISILTVPAE 
    EPGTFAVRVI ELCSSTMTCM KGTYLVHLTC TSSKTAREDL ESVVQKLFVP YTEMEIENEQ 
    VEKPRILWAL YFNMRDSSDI SRSCYNDLPS NVYVCSGPDC GLGNDNAVKQ AETLFQEICP 
    NEDFCPPPPN PEDIILDGDS LQPEASESSA IPEANSETFK ESTNLGNLEE SSE

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.