XIRP1 (xin actin binding repeat containing 1)

2008-12-01  

Identity

HGNC
XIRP1
LOCATION
3p22.2
LOCUSID
165904
ALIAS
CMYA1,Xin
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 165904
MIM: 609777
HGNC: 14301
Ensembl: ENSG00000168334

Variants:

dbSNP: 165904
ClinVar: 165904
TCGA: ENSG00000168334
COSMIC: XIRP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168334ENST00000340369Q702N8
ENSG00000168334ENST00000396251Q702N8
ENSG00000168334ENST00000421646Q702N8

Expression (GTEx)

0
50
100
150
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

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
154545752004Xin repeats define a novel actin-binding motif.34
166317412006Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP.33
249631322014Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.14
191519832009Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.13
239853232013Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling.13
206571802010Multiple tumor-suppressor genes on chromosome 3p contribute to head and neck squamous cell carcinoma tumorigenesis.10
242250862013Xin is a marker of skeletal muscle damage severity in myopathies.9
291763282017Cardiomyopathy-Associated Gene 1-Sensitive PKC-Dependent Connexin 43 Expression and Phosphorylation in Left Ventricular Noncompaction Cardiomyopathy.3
293068972018Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.1

Citation

Dessen P

XIRP1 (xin actin binding repeat containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2008-12-01

Online version: http://atlasgeneticsoncology.org/gene/50564/xirp1