Endometriosis Knowledgebase

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Gene id

100507436

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

MICA Gene UCSC Ensembl

Aliases

MIC-A, PERB11.1

Gene name

MHC class I polypeptide-related sequence A

Alternate names

MHC class I polypeptide-related sequence A, HLA class I antigen, MHC class I chain-related protein A, MHC class I related chain A, MHC class I related sequence A, stress inducible class I homolog, truncated MHC class I polypeptide-related sequence A,

Gene location

6p21.33 (31399783: 31415314) Exons: 7 NC_000006.12

Gene summary(Entrez)

This gene encodes the highly polymorphic major histocompatability complex class I chain-related protein A. The protein product is expressed on the cell surface, although unlike canonical class I molecules it does not seem to associate with beta-2-microglobulin. It is a ligand for the NKG2-D type II integral membrane protein receptor. The protein functions as a stress-induced antigen that is broadly recognized by intestinal epithelial gamma delta T cells. Variations in this gene have been associated with susceptibility to psoriasis 1 and psoriatic arthritis, and the shedding of MICA-related antibodies and ligands is involved in the progression from monoclonal gammopathy of undetermined significance to multiple myeloma. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2014]

OMIM

600169

Protein Summary

Protein general information

Q29983

Name: MHC class I polypeptide related sequence A (MIC A)

Length: 383 Mass: 42,915

Tissue specificity: Widely expressed with the exception of the central nervous system where it is absent. Expressed predominantly in gastric epithelium and also in monocytes, keratinocytes, endothelial cells, fibroblasts and in the outer layer of Hassal's

Sequence

MGLGPVFLLLAGIFPFAPPGAAAEPHSLRYNLTVLSWDGSVQSGFLTEVHLDGQPFLRCDRQKCRAKPQGQWAED
VLGNKTWDRETRDLTGNGKDLRMTLAHIKDQKEGLHSLQEIRVCEIHEDNSTRSSQHFYYDGELFLSQNLETKEW
TMPQSSRAQTLAMNVRNFLKEDAMKTKTHYHAMHADCLQELRRYLKSGVVLRRTVPPMVNVTRSEASEGNITVTC
RASGFYPWNITLSWRQDGVSLSHDTQQWGDVLPDGNGTYQTWVATRICQGEEQRFTCYMEHSGNHSTHPVPSGKV
LVLQSHWQTFHVSAVAAAAIFVIIIFYVRCCKKKTSAAEGPELVSLQVLDQHPVGTSDHRDATQLGFQPLMSDLG
STGSTEGA

Structural information

Protein Domains	Ig-like (207-296)
Interpro:	IPR007110 IPR013783 IPR003597 IPR011161 IPR011162
Prosite:	PS50835
Pfam:	PF07654 PF00129
PDB:	1B3J 1HYR
PDBsum:	1B3J 1HYR
DIP:	29681
MINT:	8214461

Other Databases

GeneCards: MICA; Malacards: MICA

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001913	T cell mediated cytotoxic ity	IDA	biological_process
GO:0002418	immune response to tumor cell	IDA	biological_process
GO:0003823	antigen binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IDA	cellular_component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological_process
GO:0009408	response to heat	IDA	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0019835	cytolysis	IEA	biological_process
GO:0019882	antigen processing and pr esentation	IBA	biological_process
GO:0032815	negative regulation of na tural killer cell activat ion	IDA	biological_process
GO:0042267	natural killer cell media ted cytotoxicity	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0045953	negative regulation of na tural killer cell mediate d cytotoxicity	IMP	biological_process
GO:0046629	gamma-delta T cell activa tion	IDA	biological_process
GO:0046703	natural killer cell lecti n-like receptor binding	IPI	molecular_function
GO:0046703	natural killer cell lecti n-like receptor binding	IDA	molecular_function
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0051607	defense response to virus	IDA	biological_process
GO:0051607	defense response to virus	IDA	biological_process
GO:0030881	beta-2-microglobulin bind ing	IDA	molecular_function
GO:0001913	T cell mediated cytotoxic ity	IDA	biological_process
GO:0002250	adaptive immune response	IEA	biological_process
GO:0002376	immune system process	IEA	biological_process
GO:0002418	immune response to tumor cell	IDA	biological_process
GO:0003823	antigen binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IDA	cellular_component
GO:0006955	immune response	IEA	biological_process
GO:0006974	cellular response to DNA damage stimulus	IDA	biological_process
GO:0009408	response to heat	IDA	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0016032	viral process	IEA	biological_process
GO:0019835	cytolysis	IEA	biological_process
GO:0019882	antigen processing and pr esentation	IBA	biological_process
GO:0032815	negative regulation of na tural killer cell activat ion	IDA	biological_process
GO:0042267	natural killer cell media ted cytotoxicity	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0045953	negative regulation of na tural killer cell mediate d cytotoxicity	IMP	biological_process
GO:0046629	gamma-delta T cell activa tion	IDA	biological_process
GO:0046703	natural killer cell lecti n-like receptor binding	IPI	molecular_function
GO:0046703	natural killer cell lecti n-like receptor binding	IDA	molecular_function
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0051607	defense response to virus	IDA	biological_process
GO:0051607	defense response to virus	IDA	biological_process
GO:0030881	beta-2-microglobulin bind ing	IDA	molecular_function
GO:0001913	T cell mediated cytotoxic ity	IDA	biological_process
GO:0002418	immune response to tumor cell	IDA	biological_process
GO:0003823	antigen binding	IBA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005615	extracellular space	IDA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005887	integral component of pla sma membrane	IDA	cellular_component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological_process
GO:0009408	response to heat	IDA	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0009986	cell surface	IDA	cellular_component
GO:0019882	antigen processing and pr esentation	IBA	biological_process
GO:0032815	negative regulation of na tural killer cell activat ion	IDA	biological_process
GO:0042267	natural killer cell media ted cytotoxicity	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0042742	defense response to bacte rium	IDA	biological_process
GO:0045953	negative regulation of na tural killer cell mediate d cytotoxicity	IMP	biological_process
GO:0046629	gamma-delta T cell activa tion	IDA	biological_process
GO:0046703	natural killer cell lecti n-like receptor binding	IPI	molecular_function
GO:0046703	natural killer cell lecti n-like receptor binding	IDA	molecular_function
GO:0050776	regulation of immune resp onse	TAS	biological_process
GO:0051607	defense response to virus	IDA	biological_process
GO:0051607	defense response to virus	IDA	biological_process
GO:0030881	beta-2-microglobulin bind ing	IDA	molecular_function

KEGG pathways

hsa05167 Kaposi's sarcoma-associated herpesvirus infection
hsa04650 Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Addison's disease	PMID: 12392510
Alzheimer's disease	PMID: 19691640
Amyloidosis	PMID: 15018633
Ankylosing spondylitis	PMID: 12118167
Asthma	PMID: 16776673
Behcet's disease	PMID: 12068141
Cancer	PMID: 18951065
Cardiomyopathy	PMID: 16101831
Celiac disease	PMID: 15089901
Cleft lip	PMID: 19594363
Crohn's disease	PMID: 12392511
Diabetes	PMID: 19820007
Endometriosis	PMID: 25775242
Graves disease	PMID: 17221346
Idiopathic pulmonary fibrosis	PMID: 19363685
Multiple sclerosis	PMID: 18588574
Endometriosis	INFBASE25775242
Polyendocrinopathies	PMID: 18390988
Polymyositis	PMID: 15022353
Psoriasis	PMID: 18799098
Recurrent miscarriage	PMID: 15304010
Rheumatoid arthritis	PMID: 15077289
Spondyloarthropathies	PMID: 16720212
Stevens-Johnson syndrome	PMID: 21801394
Systemic lupus erythematosus	PMID: 15522921
Ulcerative colitis	PMID: 16116311

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25775242	Endometrio sis			202 (121 women with histologic ally proven end ometriosis, 81 endometriosis-f ree controls )		MICB MICA ULBP2	Show abstract