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BTN3A3 butyrophilin subfamily 3 member A3 [ Homo sapiens (human) ]

Gene ID: 10384, updated on 26-May-2016
Official Symbol
BTN3A3provided by HGNC
Official Full Name
butyrophilin subfamily 3 member A3provided by HGNC
Primary source
HGNC:HGNC:1140
See related
Ensembl:ENSG00000111801 HPRD:12548; MIM:613595; Vega:OTTHUMG00000014451
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
BTF3; BTN3.3
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., BNT3A3) 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]
Orthologs
Location:
6p21.3
Exon count:
11
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (26440472..26453415)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (26440700..26453643)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene butyrophilin subfamily 3 member A2 Neighboring gene butyrophilin subfamily 3 member A1 Neighboring gene butyrophilin subfamily 2 member A3, pseudogene Neighboring gene butyrophilin subfamily 2 member A1 Neighboring gene uncharacterized LOC285819 Neighboring gene butyrophilin subfamily 1 member A1 pseudogene 1

Products Interactant Other Gene Complex Source Pubs Description

Markers

Potential readthrough

Included gene: BTN2A1

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
T cell mediated immunity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
butyrophilin subfamily 3 member A3
Names
butyrophilin 3
butyrophilin subfamily 3 member A3 secreted isoform
butyrophilin, subfamily 3, member A3

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_001242803.1NP_001229732.1  butyrophilin subfamily 3 member A3 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks several exons in two regions, but the open reading frame is retained, compared to variant 1. The encoded isoform (c) has a shorter N-terminus and lacks an internal segment, compared to isoform a.
    Source sequence(s)
    BC015815, BX341863, DA445999
    UniProtKB/Swiss-Prot
    O00478
    Conserved Domains (3) summary
    cd05713
    Location:3102
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:1101
    IG_like; Immunoglobulin like
    cd12900
    Location:130302
    SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
  2. NM_006994.4NP_008925.1  butyrophilin subfamily 3 member A3 isoform a precursor

    See identical proteins and their annotated locations for NP_008925.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    BC015815, DC410234
    Consensus CDS
    CCDS4611.1
    UniProtKB/Swiss-Prot
    O00478
    UniProtKB/TrEMBL
    A0A024R042
    Related
    ENSP00000244519, OTTHUMP00000016166, ENST00000244519, OTTHUMT00000040116
    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
    cd12900
    Location:340512
    SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)
  3. NM_197974.2NP_932078.2  butyrophilin subfamily 3 member A3 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream translational start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AK301553, BC015815, DC410234
    Consensus CDS
    CCDS4612.2
    UniProtKB/Swiss-Prot
    O00478
    Related
    ENSP00000355238, OTTHUMP00000214539, ENST00000361232, OTTHUMT00000354136
    Conserved Domains (3) summary
    cd05713
    Location:3102
    Ig_MOG_like; Immunoglobulin (Ig)-like domain of myelin oligodendrocyte glycoprotein (MOG)
    smart00410
    Location:1101
    IG_like; Immunoglobulin like
    cd12900
    Location:291463
    SPRY_PRY_Btn_TRIMs; PRY/SPRY domain in butyrophilins and butyrophilins-like proteins, pyrin, as well as tripartite motif-containing proteins (TRIM4, 5, 6, 11, 21, 22, 27, 30, 34, 38, 58, 60, 68, 75)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

    Range
    26440472..26453415
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

    Range
    26442775..26455718
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)