Property Summary

NCBI Gene PubMed Count 19
Grant Count 20
R01 Count 12
Funding $1,849,047
PubMed Score 3.86
PubTator Score 40.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Male infertility 170 4.403 2.2

Gene RIF (5)

PMID Text
25374392 Our results provided a new insight into susceptibility of USF1 variant with male infertility. rs11204546 of OR2W3 and rs11677854 of GTF2A1L might be additional valuable molecular predictive markers
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
16646664 TFIIA tau is associated with undifferentiated cells during development, yet is down-regulated at the chromatin level upon cellular differentiation.
16525715 Results identified ALF as a human spermatogenesis related gene, the abnormal expression of ALF might be the partial cause for human infertility.
11889132 A unique CpG-specific methylation pattern at the ALF promoter precedes expression in pachytene spermatocytes.

AA Sequence

MACLNPVPKLYRSVIEDVIEGVRNLFAEEGIEEQVLKDLKQLWETKVLQSKATEDFFRNSIQSPLFTLQL      1 - 70
PHSLHQTLQSSTASLVIPAGRTLPSFTTAELGTSNSSANFTFPGYPIHVPAGVTLQTVSGHLYKVNVPIM     71 - 140
VTETSGRAGILQHPIQQVFQQLGQPSVIQTSVPQLNPWSLQATTEKSQRIETVLQQPAILPSGPVDRKHL    141 - 210
ENATSDILVSPGNEHKIVPEALLCHQESSHYISLPGVVFSPQVSQTNSNVESVLSGSASMAQNLHDESLS    211 - 280
TSPHGALHQHVTDIQLHILKNRMYGCDSVKQPRNIEEPSNIPVSEKDSNSQVDLSIRVTDDDIGEIIQVD    281 - 350
GSGDTSSNEEIGSTRDADENEFLGNIDGGDLKVPEEEADSISNEDSATNSSDNEDPQVNIVEEDPLNSGD    351 - 420
DVSEQDVPDLFDTDNVIVCQYDKIHRSKNKWKFYLKDGVMCFGGRDYVFAKAIGDAEW                421 - 478
//

Text Mined References (20)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
25374392 2015 Association of single nucleotide polymorphisms in the USF1, GTF2A1L and OR2W3 genes with non-obstructive azoospermia in the Chinese population.
23227193 2012 Analysis of copy number variation in Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.
21151128 2011 Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
16966320 2006 Regulatory factor interactions and somatic silencing of the germ cell-specific ALF gene.
16646664 2006 Transcription Factor IIA tau is associated with undifferentiated cells and its gene expression is repressed in primary neurons at the chromatin level in vivo.
16525715 2006 Involvement of ALF in human spermatogenesis and male infertility.
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.
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