Butyrophilin, subfamily 1, member A1

BTN1A1
Identifiers
Aliases	BTN1A1 , BT, BTN, BTN1, butyrophilin subfamily 1 member A1
External IDs	OMIM: 601610 MGI: 103118 HomoloGene: 1312 GeneCards: BTN1A1
Gene location (Human)
Chr.	Chromosome 6 (human)
End	26,510,425 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	23,650,071 bp
RNA expression pattern
	Top expressed in
	lymph node; ; appendix; ; thymus; ; spleen; ; blood; ; urinary bladder; ; duodenum; ; rectum; ; mesencephalon; ; substantia nigra;
	Top expressed in
	ascending aorta; ; female urethra; ; aortic valve; ; endocardial cushion; ; Paneth cell; ; atrioventricular valve; ; ureter; ; upper arm; ; neck; ; blastocyst;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	signaling receptor binding ; signaling receptor activity ;
Cellular component	integral component of membrane ; extracellular region ; integral component of plasma membrane ; membrane ; extracellular space ; plasma membrane ; external side of plasma membrane ;
Biological process	regulation of immune response ; T cell receptor signaling pathway ;
	Sources:Amigo / QuickGO
Orthologs
	696
	12231
	ENSG00000124557
	ENSMUSG00000000706
	Q13410
	Q62556
	NM_001732
	NM_013483
	NP_001723
	NP_038511
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 14, 2022

Butyrophilin subfamily 1 member A1 is a protein that in humans is encoded by the BTN1A1 gene.^[5]^[6]^[7]

Butyrophilin (BTN) is the major protein associated with fat droplets in the milk. It is a member of the immunoglobulin superfamily. It may have a cell surface receptor function. The human butyrophilin gene is localized in the major histocompatibility complex (MHC) class I region of 6p and may have arisen relatively recently in evolution by the shuffling of exons between 2 ancestral gene families^[7]

Function

Btn1a1 regulates the amount of lipids and size of droplets expressed in milk. When the gene is compromised in laboratory mice, approximately half the pups died within the first 20 days and the remainder were significantly under-weight. ^[8]

Link to multiple sclerosis

Butyrophilin has been presented as a potential antigen which may be similar enough to myelin oligodendrocyte glycoprotein (MOG) to spur the immune system to attack myelin in a process known as molecular or epitopic mimicry. This suggests that ingestion of butyrophilin in dairy products from cows and goats may be a potential trigger for multiple sclerosis. Independent studies by a group in Germany have reached similar conclusions.^[9]^[10]

The German group have used heavy doses of butyrophilin on mice with an experimental model for multiple sclerosis called EAE. They have found that this strategy, called immune tolerance, reduces the effects of the disease.

Related Research Articles

<span class="mw-page-title-main">Myelin oligodendrocyte glycoprotein</span>

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Proteolipid protein 1 (PLP1) is a form of myelin proteolipid protein (PLP). Mutations in PLP1 are associated with Pelizaeus–Merzbacher disease. It is a 4 transmembrane domain protein which is proposed to bind other copies of itself on the extracellular side of the membrane. In a myelin sheath, as the layers of myelin wraps come together, PLP will bind itself and tightly hold the cellular membranes together.

Reticulon 4 receptor (RTN4R) also known as Nogo-66 Receptor (NgR) or Nogo receptor 1 is a protein which in humans is encoded by the RTN4R gene. This gene encodes the receptor for reticulon 4, oligodendrocytemyelin glycoprotein and myelin-associated glycoprotein. This receptor mediates axonal growth inhibition and may play a role in regulating axonal regeneration and plasticity in the adult central nervous system.

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Large proline-rich protein BAT3 is a protein that in humans is encoded by the BAT3 gene.

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Myelin P2 protein is a protein that in humans is encoded by the PMP2 gene. Myelin protein P2 is a constituent of peripheral nervous system (PNS) myelin, also present in small amounts in central nervous system (CNS) myelin. As a structural protein, P2 is thought to stabilize the myelin membranes, and may play a role in lipid transport in Schwann cells. Structurally, P2 belongs to the family of cytoplasmic fatty acid-binding proteins (FABPs).

Zinc transporter 4 is a protein that in humans is encoded by the SLC30A4 gene.

Serine/threonine-protein kinase 19 is an enzyme that in humans is encoded by the STK19 gene.

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Protein EVI2B is a protein that in humans is encoded by the EVI2B gene.

CD1a is a human protein encoded by the CD1A gene.

Butyrophilin subfamily 2 member A2 is a protein that in humans is encoded by the BTN2A2 gene.

Butyrophilin subfamily 3 member A1 is a protein that in humans is encoded by the BTN3A1 gene.

Butyrophilin is a family of proteins.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000124557 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000706 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Vernet C, Boretto J, Mattei MG, Takahashi M, Jack LJ, Mather IH, Rouquier S, Pontarotti P (Mar 1994). "Evolutionary study of multigenic families mapping close to the human MHC class I region". J Mol Evol. 37 (6): 600–12. doi:10.1007/bf00182746. PMID 8114113. S2CID 19054302.
↑ Tazi-Ahnini R, Henry J, Offer C, Bouissou-Bouchouata C, Mather IH, Pontarotti P (Jan 1998). "Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex". Immunogenetics. 47 (1): 55–63. doi:10.1007/s002510050326. PMID 9382921. S2CID 1873778.
1 2 "Entrez Gene: BTN1A1 butyrophilin, subfamily 1, member A1".
↑ Sherry L. Ogg; Anne K. Weldon; Lorraine Dobbie; Andrew J. H. Smith; Ian H. Mather (6 July 2004). "Expression of butyrophilin (Btn1a1) in lactating mammary gland is essential for the regulated secretion of milk–lipid droplets". Proceedings of the National Academy of Sciences. 101 (27): 10084–10089. Bibcode:2004PNAS..10110084O. doi: 10.1073/pnas.0402930101 . PMC 454168 . PMID 15226505.
↑ Stefferl A, Schubart A, Storch M, Amini A, Mather I, Lassmann H, Linington C (September 2000). "Butyrophilin, a milk protein, modulates the encephalitogenic T cell response to myelin oligodendrocyte glycoprotein in experimental autoimmune encephalomyelitis". J. Immunol. 165 (5): 2859–65. doi: 10.4049/jimmunol.165.5.2859 . PMID 10946319.
↑ Guggenmos J, Schubart AS, Ogg S, Andersson M, Olsson T, Mather IH, Linington C (January 2004). "Antibody cross-reactivity between myelin oligodendrocyte glycoprotein and the milk protein butyrophilin in multiple sclerosis". J. Immunol. 172 (1): 661–8. doi: 10.4049/jimmunol.172.1.661 . PMID 14688379.

External links

Human BTN1A1 genome location and BTN1A1 gene details page in the UCSC Genome Browser .

Mather IH, Jack LJ (1994). "A review of the molecular and cellular biology of butyrophilin, the major protein of bovine milk fat globule membrane". J. Dairy Sci. 76 (12): 3832–50. doi: 10.3168/jds.s0022-0302(93)77726-7 . PMID 8132890.
Heid HW, Winter S, Bruder G, et al. (1983). "Butyrophilin, an apical plasma membrane-associated glycoprotein characteristic of lactating mammary glands of diverse species". Biochim. Biophys. Acta. 728 (2): 228–38. doi:10.1016/0005-2736(83)90476-5. PMID 6830779.
Sato T, Takio K, Kobata A, et al. (1995). "Site-specific glycosylation of bovine butyrophilin". J. Biochem. 117 (1): 147–57. doi:10.1093/oxfordjournals.jbchem.a124702. PMID 7775382.
Taylor MR, Peterson JA, Ceriani RL, Couto JR (1996). "Cloning and sequence analysis of human butyrophilin reveals a potential receptor function". Biochim. Biophys. Acta. 1306 (1): 1–4. doi:10.1016/0167-4781(19)60000-x. PMID 8611614.
Cavaletto M, Giuffrida MG, Giunta C, et al. (1999). "Multiple forms of lactadherin (breast antigen BA46) and butyrophilin are secreted into human milk as major components of milk fat globule membrane". J. Dairy Res. 66 (2): 295–301. doi:10.1017/s0022029999003507. PMID 10376248. S2CID 29228427.
Shibui A, Tsunoda T, Seki N, et al. (1999). "Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor". J. Hum. Genet. 44 (4): 249–52. doi: 10.1007/s100380050153 . PMID 10429365.
Rhodes DA, Stammers M, Malcherek G, et al. (2001). "The cluster of BTN genes in the extended major histocompatibility complex". Genomics. 71 (3): 351–62. doi:10.1006/geno.2000.6406. PMID 11170752.
McManaman JL, Palmer CA, Wright RM, Neville MC (2003). "Functional regulation of xanthine oxidoreductase expression and localization in the mouse mammary gland: evidence of a role in lipid secretion". J. Physiol. 545 (Pt 2): 567–79. doi:10.1113/jphysiol.2002.027185. PMC 2290700 . PMID 12456835.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–11. Bibcode:2003Natur.425..805M. doi: 10.1038/nature02055 . PMID 14574404.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928 . PMID 15489334.
Woo JS, Imm JH, Min CK, et al. (2006). "Structural and functional insights into the B30.2/SPRY domain". EMBO J. 25 (6): 1353–63. doi:10.1038/sj.emboj.7600994. PMC 1422157 . PMID 16498413.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000124557 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000000706 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8114113-5] Vernet C, Boretto J, Mattei MG, Takahashi M, Jack LJ, Mather IH, Rouquier S, Pontarotti P (Mar 1994). "Evolutionary study of multigenic families mapping close to the human MHC class I region". J Mol Evol. 37 (6): 600–12. doi:10.1007/bf00182746. PMID 8114113. S2CID 19054302.

[pmid9382921-6] Tazi-Ahnini R, Henry J, Offer C, Bouissou-Bouchouata C, Mather IH, Pontarotti P (Jan 1998). "Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex". Immunogenetics. 47 (1): 55–63. doi:10.1007/s002510050326. PMID 9382921. S2CID 1873778.

[entrez-7] 1 2 "Entrez Gene: BTN1A1 butyrophilin, subfamily 1, member A1".

[8] Sherry L. Ogg; Anne K. Weldon; Lorraine Dobbie; Andrew J. H. Smith; Ian H. Mather (6 July 2004). "Expression of butyrophilin (Btn1a1) in lactating mammary gland is essential for the regulated secretion of milk–lipid droplets". Proceedings of the National Academy of Sciences. 101 (27): 10084–10089. Bibcode:2004PNAS..10110084O. doi: 10.1073/pnas.0402930101 . PMC 454168 . PMID 15226505.

[pmid10946319-9] Stefferl A, Schubart A, Storch M, Amini A, Mather I, Lassmann H, Linington C (September 2000). "Butyrophilin, a milk protein, modulates the encephalitogenic T cell response to myelin oligodendrocyte glycoprotein in experimental autoimmune encephalomyelitis". J. Immunol. 165 (5): 2859–65. doi: 10.4049/jimmunol.165.5.2859 . PMID 10946319.

[pmid14688379-10] Guggenmos J, Schubart AS, Ogg S, Andersson M, Olsson T, Mather IH, Linington C (January 2004). "Antibody cross-reactivity between myelin oligodendrocyte glycoprotein and the milk protein butyrophilin in multiple sclerosis". J. Immunol. 172 (1): 661–8. doi: 10.4049/jimmunol.172.1.661 . PMID 14688379.

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