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

Gene ID: 696, updated on 21-Dec-2019

Summary

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
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

Genomic context

See BTN1A1 in Genome Data Viewer
Location:
6p22.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (26499290..26510425)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26500577..26510653)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 2 member A1 Neighboring gene uncharacterized LOC285819 Neighboring gene CRISPRi-validated cis-regulatory element chr6.1165 Neighboring gene butyrophilin subfamily 1 member A1 pseudogene 1 Neighboring gene uncharacterized LOC107986583 Neighboring gene RNA, U6 small nuclear 502, pseudogene Neighboring gene tRNA-Leu (anticodon CAG) 1-7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
signaling receptor activity TAS
Traceable Author Statement
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001732.3NP_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
    UniProtKB/TrEMBL
    Q4VAN2
    Related
    ENSP00000244513.6, ENST00000244513.10
    Conserved Domains (4) summary
    cd05713
    Location:43142
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:35141
    IG_like; Immunoglobulin like
    cd15819
    Location:302473
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
    cl11960
    Location:162223
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    26499290..26510425
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249340.3XP_005249397.2  butyrophilin subfamily 1 member A1 isoform X1

    Conserved Domains (4) summary
    cd05713
    Location:143242
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:135241
    IG_like; Immunoglobulin like
    cd15819
    Location:402573
    SPRY_PRY_BTN1_2; butyrophilin subfamily member A1 and A2 (BTN1A and BTN2A)
    cl11960
    Location:262323
    Ig; Immunoglobulin domain
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