Property Summary

NCBI Gene PubMed Count 13
PubMed Score 126.62
PubTator Score 6.28

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
Multiple myeloma 1.022 1.7e-02
pancreatic ductal adenocarcinoma liver m... -1.785 2.6e-03
breast carcinoma -1.400 4.9e-04
lung adenocarcinoma -1.600 5.2e-09
Breast cancer -1.900 8.2e-06
progressive supranuclear palsy -1.100 1.5e-02
ductal carcinoma in situ -1.200 5.9e-05
invasive ductal carcinoma -2.100 1.0e-04
ovarian cancer -2.100 5.3e-06

Synonym

Accession Q9NTX5 A6NFJ5 B7Z8S0 E9PEN7 E9PR31 F8W851 Q5TEF6 Q5TEF7 Q5TEG0 Q5TEG4 Q9NZ30 V9HW18
Symbols MMCD
HEL-S-76
dJ351K20.2

Gene

PANTHER Protein Class (2)

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

Gene RIF (5)

PMID Text
20407466 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19789366 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19517271 Mutations in the coding regions of the RNF146 and ECHDC1 genes do not contribute to the burden of inherited predisposition of breast cancer in Ashkenazi high risk women.
19517271 Observational study of gene-disease association. (HuGE Navigator)
18326623 Genome-wide association study of gene-disease association. (HuGE Navigator)

AA Sequence

MALKQEMAKSLLKTASLSGRTKLLHQTGLSLYSTSHGFYEEEVKKTLQQFPGGSIDLQKEDNGIGILTLN      1 - 70
NPSRMNAFSGVMMLQLLEKVIELENWTEGKGLIVRGAKNTFSSGSDLNAVKSLGTPEDGMAVCMFMQNTL     71 - 140
TRFMRLPLISVALVQGWALGGGAEFTTACDFRLMTPESKIRFVHKEMGIIPSWGGTTRLVEIIGSRQALK    141 - 210
VLSGALKLDSKNALNIGMVEEVLQSSDETKSLEEAQEWLKQFIQGPPEVIRALKKSVCSGRELYLEEALQ    211 - 280
NERDLLGTVWGGPANLEAIAKKGKFNK                                               281 - 307
//

Text Mined References (18)

PMID Year Title
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22016388 2011 Ethylmalonyl-CoA decarboxylase, a new enzyme involved in metabolite proofreading.
21269460 2011 Initial characterization of the human central proteome.
20407466 2010 Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations.
19789366 2009 Evaluation of 11 breast cancer susceptibility loci in African-American women.
19517271 2009 The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women.
18326623 2008 Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.