Property Summary

NCBI Gene PubMed Count 22
PubMed Score 8.67
PubTator Score 8.72

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
IGA Glomerulonephritis 454
Disease Target Count P-value
atypical teratoid / rhabdoid tumor 4369 2.78738528726102E-7
medulloblastoma, large-cell 6234 8.1369382219182E-7
osteosarcoma 7933 9.16762306150553E-7
ependymoma 2514 8.05320457364503E-6
interstitial cystitis 2299 1.09784123945792E-5
primitive neuroectodermal tumor 3031 3.12065486430357E-4
group 4 medulloblastoma 1875 3.1812255747681E-4
psoriasis 6685 7.17016496920575E-4
ovarian cancer 8492 0.0018141280360856
lung cancer 4473 0.0025058015869901
glioblastoma 5572 0.00277759151564908
pediatric high grade glioma 2712 0.00906962240651294
Gaucher disease type 1 171 0.0165176656582714
Waldenstrons macroglobulinemia 765 0.0230895978764687
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0301848505638546
urothelial carcinoma 318 0.0377529161685993
gastric cancer 436 0.0466430107961215
Disease Target Count Z-score Confidence
Neurodegenerative disease 383 0.0 4.0
hereditary spastic paraplegia 313 0.0 4.0
Disease Target Count Z-score Confidence
Fatty liver disease 86 3.305 1.7

Expression

  Differential Expression (17)

Disease log2 FC p
gastric cancer -1.100 0.047
Waldenstrons macroglobulinemia 1.488 0.023
urothelial carcinoma -1.100 0.038
psoriasis 1.100 0.001
osteosarcoma -1.969 0.000
ependymoma 1.400 0.000
group 4 medulloblastoma 2.500 0.000
atypical teratoid / rhabdoid tumor 2.500 0.000
glioblastoma 2.100 0.003
medulloblastoma, large-cell 2.700 0.000
primitive neuroectodermal tumor 1.300 0.000
intraductal papillary-mucinous neoplasm ... 1.200 0.030
lung cancer 1.100 0.003
interstitial cystitis -1.400 0.000
pediatric high grade glioma 1.400 0.009
ovarian cancer 1.600 0.002
Gaucher disease type 1 -1.700 0.017

Synonym

Accession O75477 B0QZ42 Q53HV0
Symbols KE04
KEO4
SPFH1
SPG62
Erlin-1
C10orf69

Gene

  Ortholog (11)

 GO Function (1)

Gene RIF (10)

PMID Text
24217618 Erlin-1 and the related erlin-2 were found to selectively bind cholesterol. Knockdown of the proteins by RNAi in cultured cells resulted in high levels of cholesterol and fatty acid biosynthesis in the presence of cholesterol sufficiency.
24217618 Here we show that the multimeric ER proteins erlins-1 and -2 are additional sterol regulatory element binding protein regulators.
23477746 Our findings suggest ERLIN1-CHUK-CWF19L1 variants are associated with early stage of fatty liver accumulation to hepatic inflammation.
21048031 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20471030 This protein has been found differentially expressed in thalami from patients with schizophrenia.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19751772 m3 receptor-expressing HeLa cells are a valuable system for studying IP(3) receptor ERAD, and suggest that the SPFH1/2 complex is a factor that selectively mediates the ERAD of activated IP(3) receptors.
19240031 Results suggest that this novel SPFH1/2 complex is a recognition factor that targets IP(3)Rs and perhaps other substrates for ERAD.
18940312 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
16835267 Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER.

AA Sequence

MTQARVLVAAVVGLVAVLLYASIHKIEEGHLAVYYRGGALLTSPSGPGYHIMLPFITTFRSVQTTLQTDE      1 - 70
VKNVPCGTSGGVMIYIDRIEVVNMLAPYAVFDIVRNYTADYDKTLIFNKIHHELNQFCSAHTLQEVYIEL     71 - 140
FDQIDENLKQALQKDLNLMAPGLTIQAVRVTKPKIPEAIRRNFELMEAEKTKLLIAAQKQKVVEKEAETE    141 - 210
RKKAVIEAEKIAQVAKIRFQQKVMEKETEKRISEIEDAAFLAREKAKADAEYYAAHKYATSNKHKLTPEY    211 - 280
LELKKYQAIASNSKIYFGSNIPNMFVDSSCALKYSDIRTGRESSLPSKEALEPSGENVIQNKESTG        281 - 346
//

Text Mined References (30)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
24785509 2014 A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity.
24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24217618 2013 Erlins restrict SREBP activation in the ER and regulate cellular cholesterol homeostasis.
23477746 2013 The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.
23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
21610068 2011 RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation.
21343306 2011 Membrane-associated ubiquitin ligase complex containing gp78 mediates sterol-accelerated degradation of 3-hydroxy-3-methylglutaryl-coenzyme A reductase.
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