IGHA1 (immunoglobulin heavy constant alpha 1)

2013-05-01 Affiliation

Identity

HGNC

IGHA1

LOCATION

14q32.33

LOCUSID

3493

ALIAS

IgA1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3493
MIM: 146900
HGNC: 5478
Ensembl: ENSG00000211895
IMGT/GENE-DB:

Variants:

dbSNP: 3493
ClinVar: 3493
TCGA: ENSG00000211895
COSMIC: IGHA1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000211895	ENST00000390547	P01876
ENSG00000211895	ENST00000641837	A0A286YEY1

Expression (GTEx)

5000

10000

15000

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

Pathway	Source	External ID
Hemostasis	REACTOME	R-HSA-109582
Cell surface interactions at the vascular wall	REACTOME	R-HSA-202733
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Binding and Uptake of Ligands by Scavenger Receptors	REACTOME	R-HSA-2173782
Scavenging of heme from plasma	REACTOME	R-HSA-2168880

References

Pubmed ID	Year	Title	Citations
25694468	2015	Current Understanding of the Role of Complement in IgA Nephropathy.	42
10438530	1999	Identification of residues in the CH2/CH3 domain interface of IgA essential for interaction with the human fcalpha receptor (FcalphaR) CD89.	32
18826328	2008	Analysis of IgA1 N-glycosylation and its contribution to FcalphaRI binding.	29
24586974	2014	Changes in nephritogenic serum galactose-deficient IgA1 in IgA nephropathy following tonsillectomy and steroid therapy.	27
22864623	2013	Aberrant O-glycosylation and anti-glycan antibodies in an autoimmune disease IgA nephropathy and breast adenocarcinoma.	24
19531670	2009	Aberrant galactosylation of IgA1 is involved in the genetic susceptibility of Chinese patients with IgA nephropathy.	22
12023968	2002	The role of constant region carbohydrate in the assembly and secretion of human IgD and IgA1.	15
18323783	2008	Increased frequency of Ig heavy-chain HS1,2-A enhancer *2 allele in dermatitis herpetiformis, plaque psoriasis, and psoriatic arthritis.	14
15731049	2005	Effect of mutations in the human immunoglobulin A1 (IgA1) hinge on its susceptibility to cleavage by diverse bacterial IgA1 proteases.	11
17511028	2007	Expression of SNC73, a transcript of the immunoglobulin alpha-1 gene, in human epithelial carcinomas.	11

Citation

Dessen P

IGHA1 (immunoglobulin heavy constant alpha 1)

Atlas Genet Cytogenet Oncol Haematol. 2013-05-01

Online version: http://atlasgeneticsoncology.org/gene/53263/igha1