Property Summary

NCBI Gene PubMed Count 11
PubMed Score 1.56
PubTator Score 2.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (2)

Disease Target Count
Obesity 616
Disease Target Count P-value
lung adenocarcinoma 2714 3.24918265132311E-18
psoriasis 6685 5.26081813107879E-18
oligodendroglioma 2849 1.09100602280802E-13
atypical teratoid / rhabdoid tumor 4369 5.05947153770293E-10
pilocytic astrocytoma 3086 9.49300207269739E-10
medulloblastoma, large-cell 6234 2.6881007448046E-7
pediatric high grade glioma 2712 2.00784491368342E-6
glioblastoma 5572 1.86412552849591E-5
group 4 medulloblastoma 1875 5.60205276128851E-5
Pick disease 1893 0.00377356715494534
subependymal giant cell astrocytoma 2287 0.0056597359985273
interstitial cystitis 2299 0.0121765133759156
ependymoma 2514 0.0141779297175067
astrocytic glioma 2241 0.0274281317318607
primitive neuroectodermal tumor 3031 0.0416057899888305

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma -2.000 0.027
ependymoma -2.900 0.014
oligodendroglioma -1.900 0.000
glioblastoma -3.100 0.000
group 4 medulloblastoma -2.500 0.000
atypical teratoid / rhabdoid tumor -3.300 0.000
medulloblastoma, large-cell -3.500 0.000
primitive neuroectodermal tumor -1.700 0.042
interstitial cystitis -1.400 0.012
lung adenocarcinoma -1.300 0.000
pediatric high grade glioma -2.700 0.000
pilocytic astrocytoma -3.100 0.000
subependymal giant cell astrocytoma -2.109 0.006
Pick disease -1.200 0.004
psoriasis -1.200 0.000

Synonym

Accession Q8TB92 B1AQ42 B3KNV0 B7Z1S7 F8W793 Q6ZSA9
Symbols er-cHL
bA418P12.1

Gene

PANTHER Protein Class (1)

  Ortholog (15)

Species Source
Chimp OMA EggNOG
Macaque OMA Inparanoid
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA Inparanoid
Horse OMA EggNOG Inparanoid
Cow OMA Inparanoid
Pig OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA EggNOG Inparanoid
Xenopus OMA EggNOG
Zebrafish OMA Inparanoid
C. elegans OMA EggNOG
Fruitfly EggNOG Inparanoid

 GWAS Trait (1)

Gene RIF (3)

PMID Text
22865860 analysis of HMGCLL1 as an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase and comparison with MHGCL
22847177 there are nine mature transcripts for the novel gene HMGCLL1
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MGNVPSAVKHCLSYQQLLREHLWIGDSVAGALDPAQTSLLTNLHCFQPDVSGFSVSLAGTVACIHWETSQ      1 - 70
LSGLPEFVKIVEVGPRDGLQNEKVIVPTDIKIEFINRLSQTGLSVIEVTSFVSSRWVPQMADHTEVMKGI     71 - 140
HQYPGVRYPVLTPNLQGFHHAVAAGATEISVFGAASESFSKKNINCSIEESMGKFEEVVKSARHMNIPAR    141 - 210
GYVSCALGCPYEGSITPQKVTEVSKRLYGMGCYEISLGDTIGVGTPGSMKRMLESVMKEIPPGALAVHCH    211 - 280
DTYGQALANILTALQMGINVVDSAVSGLGGCPYAKGASGNVATEDLIYMLNGLGLNTGVNLYKVMEAGDF    281 - 350
ICKAVNKTTNSKVAQASFNA                                                      351 - 370
//

Text Mined References (13)

PMID Year Title
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22865860 2012 Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.
22847177 2012 Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
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