YIF1A
Description
The YIF1A (Yip1 interacting factor homolog A, membrane trafficking protein) is a protein-coding gene located on chromosome 11.
Protein YIF1A, part of the Yip1 domain family, is encoded by the YIF1A gene in humans.
Gene:
- Also known as YIF1, YIF1P, FinGER7, and 54TM.
- Contains 4,591 base pairs and 8 exons.
- Located on the minus strand of chromosome 11, at 11q13.2.
- Has four predicted promoters, with the highest confidence promoter being GXP_50494, spanning 1252 base pairs and extending beyond the first exon.
Transcription Factors:
- The promoter of YIF1A transcript variant 1 binds to numerous transcription factors, including:
- Acute myeloid leukemia 1 protein (RUNX1)
- Zinc finger protein 263 (ZKSCAN12)
- E2F transcription factor 1
- EGR1 (early growth response 1)
- GATA-binding factor 1
- Transcription factor CP2-like 1 (LBP-9)
- X-box binding protein RFX1
- Estrogen response elements (ER alpha), IR3 sites
- Lactotransferrin and deltalactoferrin, growth-inhibiting protein 12
- TGFB-inducible early growth response protein 1 (KLF10)
Expression:
- Highest in the duodenum and liver.
- Moderately expressed in tissues including colon, ovary, pancreas, spleen, and esophagus.
- Expressed at lower levels in a variety of other tissues.
mRNA:
- Has two isoforms, 1 and 2, with exons 8 and 7 respectively.
- The two transcripts undergo alternate splicing and are translated into proteins with 293 and 241 amino acids, respectively.
YIF1A is also known as 54TM, FinGER7, YIF1, YIF1P.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- bipolar disorder
- Alzheimer disease
- amyotrophic lateral sclerosis type 8
- breast cancer
