Property Summary

NCBI Gene PubMed Count 12
Grant Count 7
Funding $3,817,174
PubMed Score 6.94
PubTator Score 4.20

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 1.300 0.000
astrocytic glioma -1.500 0.027
ependymoma -1.900 0.027
oligodendroglioma -1.800 0.018
psoriasis -1.400 0.004
osteosarcoma 2.419 0.000
glioblastoma 1.100 0.000
medulloblastoma, large-cell 1.300 0.000
non-small cell lung cancer 1.470 0.000
lung cancer 1.200 0.004
diabetes mellitus -1.200 0.004
group 3 medulloblastoma 1.100 0.007
ovarian cancer 1.200 0.000

Gene RIF (3)

PMID Text
26942288 EMC1 is a gene in which either biallelic or monoallelic variants might lead to a syndrome including intellectual disability and preferential degeneration of the cerebellum.
22190034 HIV-1 gp41 is identified to have a physical interaction with KIAA0090 in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
20095854 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MAAEWASRFWLWATLLIPAAAVYEDQVGKFDWRQQYVGKVKFASLEFSPGSKKLVVATEKNVIAALNSRT      1 - 70
GEILWRHVDKGTAEGAVDAMLLHGQDVITVSNGGRIMRSWETNIGGLNWEITLDSGSFQALGLVGLQESV     71 - 140
RYIAVLKKTTLALHHLSSGHLKWVEHLPESDSIHYQMVYSYGSGVVWALGVVPFSHVNIVKFNVEDGEIV    141 - 210
QQVRVSTPWLQHLSGACGVVDEAVLVCPDPSSRSLQTLALETEWELRQIPLQSLDLEFGSGFQPRVLPTQ    211 - 280
PNPVDASRAQFFLHLSPSHYALLQYHYGTLSLLKNFPQTALVSFATTGEKTVAAVMACRNEVQKSSSSED    281 - 350
GSMGSFSEKSSSKDSLACFNQTYTINLYLVETGRRLLDTTITFSLEQSGTRPERLYIQVFLKKDDSVGYR    351 - 420
ALVQTEDHLLLFLQQLAGKVVLWSREESLAEVVCLEMVDLPLTGAQAELEGEFGKKADGLLGMFLKRLSS    421 - 490
QLILLQAWTSHLWKMFYDARKPRSQIKNEINIDTLARDEFNLQKMMVMVTASGKLFGIESSSGTILWKQY    491 - 560
LPNVKPDSSFKLMVQRTTAHFPHPPQCTLLVKDKESGMSSLYVFNPIFGKWSQVAPPVLKRPILQSLLLP    561 - 630
VMDQDYAKVLLLIDDEYKVTAFPATRNVLRQLHELAPSIFFYLVDAEQGRLCGYRLRKDLTTELSWELTI    631 - 700
PPEVQRIVKVKGKRSSEHVHSQGRVMGDRSVLYKSLNPNLLAVVTESTDAHHERTFIGIFLIDGVTGRII    701 - 770
HSSVQKKAKGPVHIVHSENWVVYQYWNTKARRNEFTVLELYEGTEQYNATAFSSLDRPQLPQVLQQSYIF    771 - 840
PSSISAMEATITERGITSRHLLIGLPSGAILSLPKALLDPRRPEIPTEQSREENLIPYSPDVQIHAERFI    841 - 910
NYNQTVSRMRGIYTAPSGLESTCLVVAYGLDIYQTRVYPSKQFDVLKDDYDYVLISSVLFGLVFATMITK    911 - 980
RLAQVKLLNRAWR                                                             981 - 993
//

Text Mined References (17)

PMID Year Title
26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
22119785 2011 Defining human ERAD networks through an integrative mapping strategy.
21269460 2011 Initial characterization of the human central proteome.
20171287 2010 Voxelwise genome-wide association study (vGWAS).
20095854 2010 Novel breast cancer risk alleles and interaction with ionizing radiation among U.S. radiologic technologists.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19159218 2009 Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
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