LAMA1 (laminin subunit alpha 1)

2009-09-01  

Identity

HGNC
LAMA1
LOCATION
18p11.31
LOCUSID
284217
ALIAS
LAMA,PTBHS,S-LAM-alpha
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 284217
MIM: 150320
HGNC: 6481
Ensembl: ENSG00000101680

Variants:

dbSNP: 284217
ClinVar: 284217
TCGA: ENSG00000101680
COSMIC: LAMA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101680ENST00000389658P25391
ENSG00000101680ENST00000638611A0A1W2PQN4

Expression (GTEx)

0
5
10
15
20
25
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
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Small cell lung cancerKEGGko05222
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
ToxoplasmosisKEGGko05145
ToxoplasmosisKEGGhsa05145
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Extracellular matrix organizationREACTOMER-HSA-1474244
Laminin interactionsREACTOMER-HSA-3000157
Non-integrin membrane-ECM interactionsREACTOMER-HSA-3000171
ECM proteoglycansREACTOMER-HSA-3000178
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Signaling by METREACTOMER-HSA-6806834
MET promotes cell motilityREACTOMER-HSA-8875878
MET activates PTK2 signalingREACTOMER-HSA-8874081

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
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
356160922022Variability of retinopathy consequent upon novel mutations in LAMA1.0
356160922022Variability of retinopathy consequent upon novel mutations in LAMA1.0
335137662021Spermatogonia Loss Correlates with LAMA 1 Expression in Human Prepubertal Testes Stored for Fertility Preservation.12
342265222021Circular RNA hsa_circ_0000277 sequesters miR-4766-5p to upregulate LAMA1 and promote esophageal carcinoma progression.27
335137662021Spermatogonia Loss Correlates with LAMA 1 Expression in Human Prepubertal Testes Stored for Fertility Preservation.12
342265222021Circular RNA hsa_circ_0000277 sequesters miR-4766-5p to upregulate LAMA1 and promote esophageal carcinoma progression.27
320722502020Organisation of extracellular matrix proteins laminin and agrin in pericapillary basal laminae in mouse brain.9
320722502020Organisation of extracellular matrix proteins laminin and agrin in pericapillary basal laminae in mouse brain.9
311833182019The Laminin-α1 Chain-Derived Peptide, AG73, Binds to Syndecans on MDA-231 Breast Cancer Cells and Alters Filopodium Formation.3
311833182019The Laminin-α1 Chain-Derived Peptide, AG73, Binds to Syndecans on MDA-231 Breast Cancer Cells and Alters Filopodium Formation.3
285447842017Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.16
285447842017Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.16
262156962016Biophysical analysis of a lethal laminin alpha-1 mutation reveals altered self-interaction.6
268628162016Effect of a Single Nucleotide Polymorphism in the LAMA1 Promoter Region on Transcriptional Activity: Implication for Pathological Myopia.5
269321912016Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).12

Citation

Dessen P

LAMA1 (laminin subunit alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51060/lama1-(laminin-subunit-alpha-1)