Property Summary

NCBI Gene PubMed Count 17
PubMed Score 4.06
PubTator Score 5.74

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (23)

Disease log2 FC p
malignant mesothelioma -1.600 4.8e-07
oligodendroglioma -1.600 3.9e-02
psoriasis -1.300 1.7e-04
glioblastoma -1.900 2.3e-04
osteosarcoma -1.688 5.9e-03
posterior fossa group B ependymoma -2.000 9.0e-10
atypical teratoid / rhabdoid tumor -1.200 1.9e-02
tuberculosis 1.200 4.3e-06
intraductal papillary-mucinous adenoma (... 1.300 2.7e-02
intraductal papillary-mucinous neoplasm ... 1.200 2.2e-02
lung cancer -1.100 4.2e-04
interstitial cystitis -1.500 3.4e-04
cystic fibrosis 1.500 2.7e-04
pediatric high grade glioma -1.400 1.5e-04
pilocytic astrocytoma 1.300 5.1e-06
primary Sjogren syndrome 1.400 8.0e-03
subependymal giant cell astrocytoma 2.944 2.1e-03
invasive ductal carcinoma 1.155 1.9e-03
spina bifida -1.979 3.8e-02
ulcerative colitis 1.500 1.9e-07
ovarian cancer -1.700 1.2e-06
dermatomyositis 1.100 3.7e-03
head and neck cancer -1.700 2.4e-02

Synonym

Accession B7ZAP0 B7ZAA4
Symbols HHL
TBC1D18

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (6)

PMID Text
23335107 Deletion variants of RABGAP1L were found to be significantly associated with SLE in Korean women.
20508983 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20198315 Observational study of gene-disease association. (HuGE Navigator)
19851296 Observational study of gene-disease association. (HuGE Navigator)
15367492 KIAA0471 mRNA expression is reduced in Alzheimer patients.

AA Sequence

MIENSSWSMTFEERENRRLQEASMRLEQENDDLAHELVTSKIALRNDLDQAEDKADVLNKELLLTKQRLV      1 - 70
ETEEEKRKQEEETAQLKEVFRKQLEKAEYEIKKTTAIIAEYKQICSQLSTRLEKQQAASKEELEVVKGKM     71 - 140
MACKHCSDIFSKEGALKLAATGREDQGIETDDEKDSLKKQLREMELELAQTKLQLVEAKCKIQELEHQRG    141 - 210
ALMNEIQAAKNSWFSKTLNSIKTATGTQPLQPAPVTQPPKEST                               211 - 253
//

Text Mined References (19)

PMID Year Title
25814554 2015 Phospho-tyrosine dependent protein-protein interaction network.
23793025 2013 Genome-wide meta-analysis identifies new susceptibility loci for migraine.
23335107 2013 Deletion variants of RABGAP1L, 10q21.3, and C4 are associated with the risk of systemic lupus erythematosus in Korean women.
21269460 2011 Initial characterization of the human central proteome.
20508983 2011 Centrosome-related genes, genetic variation, and risk of breast cancer.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20198315 2010 Association of genetic variants with hemorrhagic stroke in Japanese individuals.
19851296 2010 Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.
19077034 2009 Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity.
16923123 2006 Screening for target Rabs of TBC (Tre-2/Bub2/Cdc16) domain-containing proteins based on their Rab-binding activity.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15367492 2004 Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
11238933 2001 Antisense promoter of human L1 retrotransposon drives transcription of adjacent cellular genes.
10585558 2000 Gene trapping of two novel genes, Hzf and Hhl, expressed in hematopoietic cells.
9455484 1997 Characterization of cDNA clones in size-fractionated cDNA libraries from human brain.