ABLIM1 (actin binding LIM protein 1)

2003-02-01  

Identity

HGNC
ABLIM1
LOCATION
10q25.3
LOCUSID
3983
ALIAS
ABLIM,LIMAB1,LIMATIN,abLIM-1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3983
MIM: 602330
HGNC: 78
Ensembl: ENSG00000099204

Variants:

dbSNP: 3983
ClinVar: 3983
TCGA: ENSG00000099204
COSMIC: ABLIM1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099204ENST00000277895O14639
ENSG00000099204ENST00000369252A0A0A0MRL6
ENSG00000099204ENST00000369253O14639
ENSG00000099204ENST00000369256O14639
ENSG00000099204ENST00000369266J3QSX6
ENSG00000099204ENST00000392952O14639
ENSG00000099204ENST00000392955O14639
ENSG00000099204ENST00000428430F6XFR5
ENSG00000099204ENST00000440467H0Y7N6
ENSG00000099204ENST00000533213F8W8M4
ENSG00000099204ENST00000649363A0A3B3IS55
ENSG00000099204ENST00000651023A0A494C1G0
ENSG00000099204ENST00000651092A0A494C1P1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Netrin-1 signalingREACTOMER-HSA-373752
DCC mediated attractive signalingREACTOMER-HSA-418885

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
205495152010Genome-wide searching of rare genetic variants in WTCCC data.29
209701192011Convergent animal and human evidence suggests a role of PPM1A gene in response to antidepressants.18
254032732015ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.8
215475312012Polymorphisms in ABLIM1 are associated with personality traits and alcohol dependence.5

Citation

Dessen P

ABLIM1 (actin binding LIM protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/548/ablim1-(actin-binding-lim-protein-1)