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BTN1A1 butyrophilin subfamily 1 member A1 [ Homo sapiens (human) ]

Gene ID: 696, updated on 23-Mar-2024

Summary

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Official Symbol
BTN1A1provided by HGNC
Official Full Name
butyrophilin subfamily 1 member A1provided by HGNC
Primary source
HGNC:HGNC:1135
See related
Ensembl:ENSG00000124557 MIM:601610; AllianceGenome:HGNC:1135
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BT; BTN; BTN1
Summary
Butyrophilin 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 [provided by RefSeq, Jul 2008]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

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Location:
6p22.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (26500303..26510425)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (26368710..26378831)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26500531..26510653)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24243 Neighboring gene butyrophilin subfamily 2 member A1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26465895-26467094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24244 Neighboring gene uncharacterized LOC285819 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:26477169-26478368 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1165 Neighboring gene butyrophilin subfamily 1 member A1 pseudogene 1 Neighboring gene uncharacterized LOC107986583 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17010 Neighboring gene RNA, U6 small nuclear 502, pseudogene Neighboring gene tRNA-Leu (anticodon CAG) 1-7

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Multiple forms of lactadherin (breast antigen BA46) and butyrophilin are secreted into human milk as major components of milk fat globule membrane. Cavaletto M, et al. J Dairy Res, 1999 May. PMID 10376248
  2. Cloning and sequence analysis of human butyrophilin reveals a potential receptor function. Taylor MR, et al. Biochim Biophys Acta, 1996 Apr 10. PMID 8611614
  3. A review of the molecular and cellular biology of butyrophilin, the major protein of bovine milk fat globule membrane. Mather IH, et al. J Dairy Sci, 1993 Dec. PMID 8132890
  4. Butyrophilin, an apical plasma membrane-associated glycoprotein characteristic of lactating mammary glands of diverse species. Heid HW, et al. Biochim Biophys Acta, 1983 Feb. PMID 6830779
  5. Cloning, expression analysis, and chromosomal localization of a novel butyrophilin-like receptor. Shibui A, et al. J Hum Genet, 1999. PMID 10429365

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BTN1A1 is a novel immune checkpoint mutually exclusive to PD-L1.
    Title: BTN1A1 is a novel immune checkpoint mutually exclusive to PD-L1.
  2. Data illustrated the importance of Akt1 in mammary epithelial cell proliferation, as well as in the regulation of Btn1a1 and subsequent expression of ss-casein.
    Title: Akt1 is essential for postnatal mammary gland development, function, and the expression of Btn1a1.
  3. PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase
    Title: The PRY/SPRY/B30.2 domain of butyrophilin 1A1 (BTN1A1) binds to xanthine oxidoreductase: implications for the function of BTN1A1 in the mammary gland and other tissues.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
EBI GWAS Catalog
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.
EBI GWAS Catalog
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables signaling receptor activity TAS
Traceable Author Statement
more info
 PubMed 
enables signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular space HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
butyrophilin subfamily 1 member A1
Names
bK14H9.2 (butyrophilin, subfamily 1, member A1)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001732.3 → NP_001723.2  butyrophilin subfamily 1 member A1 precursor

    See identical proteins and their annotated locations for NP_001723.2

    Status: VALIDATED

    Source sequence(s)
    AL121936, AW977526, BC096312, U39576
    Consensus CDS
    CCDS4614.1
    UniProtKB/Swiss-Prot
    Q13410, Q4VAN3, Q4VAN4, Q9H458
    UniProtKB/TrEMBL
    Q4VAN2
    Related
    ENSP00000507193.1, ENST00000684113.1
    Conserved Domains (4) summary
    cd05713
    Location:43 → 142
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:35 → 141
    IG_like; Immunoglobulin like
    cd15819
    Location:302 → 473
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
    cl11960
    Location:162 → 223
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    26500303..26510425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_025791780.1 Reference GRCh38.p14 PATCHES

    Range
    46483..56605
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    26368710..26378831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13410.3 GenPept UniProtKB/Swiss-Prot:Q13410

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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