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BTN3A1 butyrophilin subfamily 3 member A1 [ Homo sapiens (human) ]

Gene ID: 11119, updated on 1-Jun-2020

Summary

Official Symbol
BTN3A1provided by HGNC
Official Full Name
butyrophilin subfamily 3 member A1provided by HGNC
Primary source
HGNC:HGNC:1138
See related
Ensembl:ENSG00000026950 MIM:613593
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
BTF5; BT3.1; CD277; BTN3.1
Summary
The butyrophilin (BTN) genes are a group of major histocompatibility complex (MHC)-associated genes that encode type I membrane proteins with 2 extracellular immunoglobulin (Ig) domains and an intracellular B30.2 (PRYSPRY) domain. Three subfamilies of human BTN genes are located in the MHC class I region: the single-copy BTN1A1 gene (MIM 601610) and the BTN2 (e.g., BTN2A1; MIM 613590) and BTN3 (e.g., BNT3A1) genes, which have undergone tandem duplication, resulting in 3 copies of each (summary by Smith et al., 2010 [PubMed 20208008]).[supplied by OMIM, Nov 2010]
Expression
Ubiquitous expression in spleen (RPKM 25.4), lymph node (RPKM 18.1) and 24 other tissues See more
Orthologs

Genomic context

See BTN3A1 in Genome Data Viewer
Location:
6p22.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (26402269..26415216)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26402465..26415444)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 3 member A2 Neighboring gene butyrophilin subfamily 2 member A2 Neighboring gene butyrophilin subfamily 2 member A3, pseudogene Neighboring gene butyrophilin subfamily 3 member A3

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC141880

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
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 
T cell receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
activated T cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
cytokine secretion IDA
Inferred from Direct Assay
more info
PubMed 
interferon-gamma secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cytokine production 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 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
butyrophilin subfamily 3 member A1
Names
dJ45P21.3 (butyrophilin, subfamily 3, 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_001145008.2NP_001138480.1  butyrophilin subfamily 3 member A1 isoform c precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice site in the central coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.
    Source sequence(s)
    AA977088, AK299327, AL021917, BC118586, DC417480
    Consensus CDS
    CCDS47388.1
    UniProtKB/Swiss-Prot
    O00481
    Related
    ENSP00000406667.2, ENST00000414912.2
    Conserved Domains (3) summary
    cd05713
    Location:45144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37143
    IG_like; Immunoglobulin like
    cd15820
    Location:285460
    SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277
  2. NM_001145009.2NP_001138481.1  butyrophilin subfamily 3 member A1 isoform d precursor

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' coding region that results in a frameshift, compared to variant 1. The resulting isoform (d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AA977088, AK291162, AK295720, AL021917, BC118586, BC121800, DA044176, DC417480
    Consensus CDS
    CCDS47389.1
    UniProtKB/Swiss-Prot
    O00481
    UniProtKB/TrEMBL
    A8K547
    Related
    ENSP00000396684.2, ENST00000425234.6
    Conserved Domains (3) summary
    cd05713
    Location:45144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37143
    IG_like; Immunoglobulin like
    cl11960
    Location:155222
    Ig; Immunoglobulin domain
  3. NM_007048.6NP_008979.3  butyrophilin subfamily 3 member A1 isoform a precursor

    See identical proteins and their annotated locations for NP_008979.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AA977088, AL021917, BC118586, DC417480
    Consensus CDS
    CCDS4608.1
    UniProtKB/Swiss-Prot
    O00481
    Related
    ENSP00000289361.6, ENST00000289361.11
    Conserved Domains (3) summary
    cd05713
    Location:45144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37143
    IG_like; Immunoglobulin like
    cd15820
    Location:337512
    SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277
  4. NM_194441.3NP_919423.1  butyrophilin subfamily 3 member A1 isoform b precursor

    See identical proteins and their annotated locations for NP_919423.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' and 3' UTRs, and uses an alternate splice site in the 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AA977088, AK291162, AL021917, BC118586, DA044176
    Consensus CDS
    CCDS4609.1
    UniProtKB/Swiss-Prot
    O00481
    UniProtKB/TrEMBL
    A8K547
    Related
    ENSP00000420010.2, ENST00000476549.6
    Conserved Domains (3) summary
    cd05713
    Location:45144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37143
    IG_like; Immunoglobulin like
    cl11960
    Location:155222
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    26402269..26415216
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248834.4XP_005248891.1  butyrophilin subfamily 3 member A1 isoform X3

    See identical proteins and their annotated locations for XP_005248891.1

    UniProtKB/Swiss-Prot
    O00481
    Conserved Domains (3) summary
    cd05713
    Location:45144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37143
    IG_like; Immunoglobulin like
    cl11960
    Location:155222
    Ig; Immunoglobulin domain
  2. XM_005248833.2XP_005248890.1  butyrophilin subfamily 3 member A1 isoform X1

    Related
    ENST00000082468.11
    Conserved Domains (3) summary
    cd05713
    Location:45144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37143
    IG_like; Immunoglobulin like
    cd15820
    Location:330505
    SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277
  3. XM_006714983.3XP_006715046.1  butyrophilin subfamily 3 member A1 isoform X2

    Conserved Domains (3) summary
    cd05713
    Location:45144
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:37143
    IG_like; Immunoglobulin like
    cd15820
    Location:243418
    SPRY_PRY_BTN3; PRY/SPRY domain of butyrophilin 3 (BTN3), includes BTN3A1, BTN3A2, BTN3A3 as well as BTN-like 3 (BTNL3); BTN3A also known as CD277

RNA

  1. XR_926039.3 RNA Sequence

  2. XR_001743130.1 RNA Sequence

  3. XR_001743132.1 RNA Sequence

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