multiple ankyrin repeats, single KH-domain homolog
Synonym symbol(s)
MASK, KIAA1085, MASK1, PP2500, VBARP
EC.number
3.2.1.3
DNA
TYPE
functioning gene
STRUCTURE
138.04 kb 33 Exon(s)
MAPPING
cloned
Y
linked
N
status
provisional
RNA
TRANSCRIPTS
type
messenger
identification
nb exons
type
bp
product
Protein
kDa
AA
specific expression
Year
Pubmed
34
-
8233
269.4
2542
-
2005
16297570
25 ANK repeats
10
splicing
2084
-
584
-
2005
16297570
using a different segment for its 3' coding region and 3' UTR, compared to variant 1
shorter than isoform 1
having a distinct C-terminus when compared to isoform 1
12 ANK repeat
11
splicing
2194
64.9
627
-
2005
16297570
using an alternate in-frame splice site in its 5' coding region and a different segment for its 3' coding region and 3' UTR, compared to variant 1
lacking an internal segment when compared to isoform 1
having a distinct C-terminus when compared to isoform 1
12 ANK repeat
31
-
8349
277.1
2617
-
2005
16297570
variant 4 / fusion protein
co-transcription with EIF4EBP3 (the neighboring downstream gene) generates a transcript (MASK-BP3) encoding a fusion protein comprised of the majority of the MASK protein sequence and a different C-terminus due to an alternate reading frame for the EIF4EBP3 segments
infrequent but naturally occurring co-transcript product
upregulation considerably higher than those of the other variants, during erythroid differentiation
playing a role as a scaffolding protein that may be associated with the abnormal phenotype of leukemia cells
is a novel cofactor for YAP1 required for optimal YAP1 activity during development and oncogenesis
plays an important role in the proliferation and cell cycle progression of multiple myeloma (MM) cells
potentially regulates multiple cellular functions through its ankyrin-repeat domains
may be an oncogene and participate in the leukemia cell phenotype
CELLULAR PROCESS
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling
member of the Hippo signaling pathway
a component
complexes with YAP1 and is required for the full activity of YAP1
INTERACTION
DNA
binding
RNA
small molecule
protein
is a positive regulator of YAP1 and promotes cell growth and cell cycle progression through Cyclin A upregulation
promotes Multiple myeloma growth by repressing CDKN1A a potent cell cycle regulator
interaction between ANKHD1 and SIVA1, and ANKHD1 binds to SIVA1 and has an important role in inducing leukemia cell proliferation and migration via the STMN1 pathway