IGHG1 (immunoglobulin heavy constant gamma 1 (G1m marker))

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3500
Gene name Gene Name - the full gene name approved by the HGNC.
Immunoglobulin heavy constant gamma 1 (G1m marker)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGHG1
Synonyms (NCBI Gene) Gene synonyms aliases
-
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(29)
GO ID Ontology Definition Evidence Reference
GO:0001788 Process Antibody-dependent cellular cytotoxicity IDA 11711607
GO:0002250 Process Adaptive immune response IDA 11498595
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response NAS 20176268
GO:0002376 Process Immune system process IEA
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
147100 5525 ENSG00000211896
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID P01857
Protein name Immunoglobulin heavy constant gamma 1 (Ig gamma-1 chain C region) (Ig gamma-1 chain C region EU) (Ig gamma-1 chain C region KOL) (Ig gamma-1 chain C region NIE)
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 1AJ7 , 1AQK , 1AXS , 1BEY , 1D5B , 1D5I , 1D6V , 1DFB , 1DN2 , 1E4K , 1FC1 , 1FC2 , 1FCC , 1GAF , 1H3T , 1H3U , 1H3V , 1H3W , 1H3X , 1H3Y , 1HKL , 1HZH , 1I7Z , 1L6X , 1N7M , 1OQO , 1OQX , 1PG7 , 1T83 , 1T89 , 1VGE , 2DTS , 2GJ7 , 2I5Y , 2IWG , 2J6E , 2JB5 , 2JB6 , 2O5X , 2O5Y , 2O5Z , 2OSL , 2QAD , 2QL1 , 2QQK , 2QQL , 2QQN , 2QR0 , 2R56 , 2RCS , 2VXQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07654 C1-set 8 → 90 Immunoglobulin C1-set domain Domain
PF07654 C1-set 123 → 211 Immunoglobulin C1-set domain Domain
PF07654 C1-set 231 → 315 Immunoglobulin C1-set domain Domain
Sequence
Sequence length 330
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 (1)
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
Systemic lupus erythematosus systemic lupus erythematosus N/A N/A GenCC
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Pain Associate 25358868
Acute Disease Associate 32362107
Adenocarcinoma of Lung Associate 38081768
Amyotrophic Lateral Sclerosis Associate 32792518
Bloom Syndrome Associate 29098565
Breast Neoplasms Associate 29899747, 30872752, 36404682
Carcinogenesis Associate 32362107
Carcinoma Squamous Cell Associate 37503341
Carotid Artery Diseases Stimulate 25318463
Diabetes Mellitus Associate 33587339