IGHA1 (immunoglobulin heavy constant alpha 1)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3493
Gene name Gene Name - the full gene name approved by the HGNC.
Immunoglobulin heavy constant alpha 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGHA1
Synonyms (NCBI Gene) Gene synonyms aliases
IgA1
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(35)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response NAS 20176268
GO:0002376 Process Immune system process IEA
GO:0003094 Process Glomerular filtration IEA
GO:0003094 Process Glomerular filtration IMP 23398317
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
146900 5478 ENSG00000211895
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P01876
Protein name Immunoglobulin heavy constant alpha 1 (Ig alpha-1 chain C region) (Ig alpha-1 chain C region BUR) (Ig alpha-1 chain C region TRO)
Protein function Constant region of immunoglobulin heavy chains. Immunoglobulins, also known as antibodies, are membrane-bound or secreted glycoproteins produced by B lymphocytes. In the recognition phase of humoral immunity, the membrane-bound immunoglobulins s
PDB 1IGA , 1OW0 , 2ESG , 2QEJ , 3CHN , 6LX3 , 6LXW , 6UE7 , 6XJA , 7UVL , 8SKU , 8SKV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07654 C1-set 8 → 92 Immunoglobulin C1-set domain Domain
PF07654 C1-set 230 → 320 Immunoglobulin C1-set domain Domain
Sequence 
ASPTSPKVFPLSLCSTQPDGNVVIACLVQGFFPQEPLSVTWSESGQGVTARNFPPSQDAS
GDLYTTSSQLTLPATQCLAGKSVTCHVKHYTNPSQDVTVPCPVPSTPPTPSPSTPPTPSP
SCCHPRLSLHRPALEDLLLGSEANLTCTLTGLRDASGVTFTWTPSSGKSAVQGPPERDLC
GCYSVSSVLPGCAEPWNHGKTFTCTAAYPESKTPLTATLSKSGNTFRPEVHLLPPPSEEL
ALNELVTLTCLARGFSPKDVLVRWLQGSQELPREKYLTWASRQEPSQGTTTFAVTSILRV
AAEDWKKGDTFSCMVGHEALPLAFTQKTIDRLAGKPTHVNVSVVMAEVDGTCY
Sequence length 353
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Inflammatory Bowel Disease Inflammatory bowel disease N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Show/Hide Text Mining Associations (50)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 38081768
Asthma Associate 37146352
Breast Neoplasms Associate 30872752, 31432096
Carcinoma Squamous Cell Stimulate 37503341
Dermatitis Herpetiformis Associate 19438608
Diabetic Foot Stimulate 35068329
Dry Eye Syndromes Associate 36677706
Ermine phenotype Associate 28187132
Exanthema Associate 19438608
Extranodal Extension Associate 12110007, 24651839