Property Summary

NCBI Gene PubMed Count 11
PubMed Score 2.02
PubTator Score 3.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
glioblastoma 1.100 1.7e-04
medulloblastoma, large-cell 1.200 1.5e-04
non-small cell lung cancer -1.151 6.7e-16
intraductal papillary-mucinous carcinoma... -1.100 1.3e-03
intraductal papillary-mucinous neoplasm ... -1.100 7.8e-03
lung cancer -1.100 1.0e-03
interstitial cystitis 1.500 3.2e-04
lung adenocarcinoma -1.100 4.2e-12
ductal carcinoma in situ -1.400 4.8e-04
invasive ductal carcinoma -1.600 1.7e-03
ovarian cancer 1.100 5.3e-12

Synonym

Accession Q9H7Y0 A8MUU5 B2RPN7 Q6UWJ5
Symbols DIA1R
PRO3743
EPQL1862
bA435K1.1
4930578C19Rik

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (1)

PMID Text
21264219 results support a model where the DIA1 and DIA1R regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation

AA Sequence

MEPQLGPEAAALRPGWLALLLWVSALSCSFSLPASSLSSLVPQVRTSYNFGRTFLGLDKCNACIGTSICK      1 - 70
KFFKEEIRSDNWLASHLGLPPDSLLSYPANYSDDSKIWRPVEIFRLVSKYQNEISDRRICASASAPKTCS     71 - 140
IERVLRKTERFQKWLQAKRLTPDLVQGLASPLLRCPSQRLLDRVVRRYAEVADAGSIFMDHFTDRDKLRL    141 - 210
LYTLAVNSHPILLQIFPGAEGWPLPKYLGSCGRFLVSTSTRPLQEFYDAPPDQAADLAYQLLGVLESLRS    211 - 280
NDLNYFFYFTHIDAGMFGVFNNGHLFIRDASAVGVIDKQEGSQEANRAGENKDIFSCLVSGCQAQLPSCE    281 - 350
SISEKQSLVLVCQKLLPRLLQGRFPSPVQDDIDSILVQCGDSIRPDPEVLGAASQLKDILRPLRTCDSRF    351 - 420
AYRYPDCKYNDKF                                                             421 - 433
//

Text Mined References (13)

PMID Year Title
21283809 2011 Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.
21264219 2011 DIA1R is an X-linked gene related to Deleted In Autism-1.
19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11944989 2002 An integrated, functionally annotated gene map of the DXS8026-ELK1 interval on human Xp11.3-Xp11.23: potential hotspot for neurogenetic disorders.
11181995 2001 The sequence of the human genome.