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Protein

Butyrophilin subfamily 2 member A1

Gene

BTN2A1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GO - Biological processi

  • lipid metabolic process Source: ProtInc
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Butyrophilin subfamily 2 member A1
Gene namesi
Name:BTN2A1
Synonyms:BT2.1, BTF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:1136. BTN2A1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini29 – 248ExtracellularSequence analysisAdd BLAST220
Transmembranei249 – 269HelicalSequence analysisAdd BLAST21
Topological domaini270 – 527CytoplasmicSequence analysisAdd BLAST258

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • integral component of plasma membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi11120.
OpenTargetsiENSG00000112763.
PharmGKBiPA25456.

Polymorphism and mutation databases

BioMutaiBTN2A1.
DMDMi215274180.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 28Sequence analysisAdd BLAST28
ChainiPRO_000001452929 – 527Butyrophilin subfamily 2 member A1Add BLAST499

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi46N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi51 ↔ 125PROSITE-ProRule annotation
Glycosylationi114N-linked (GlcNAc...)1 Publication1
Glycosylationi120N-linked (GlcNAc...)1 Publication1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

EPDiQ7KYR7.
PaxDbiQ7KYR7.
PeptideAtlasiQ7KYR7.
PRIDEiQ7KYR7.

PTM databases

iPTMnetiQ7KYR7.
PhosphoSitePlusiQ7KYR7.

Expressioni

Tissue specificityi

Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate expression was seen in lung, liver and kidney.1 Publication

Gene expression databases

BgeeiENSG00000112763.
CleanExiHS_BTN2A1.
ExpressionAtlasiQ7KYR7. baseline and differential.
GenevisibleiQ7KYR7. HS.

Organism-specific databases

HPAiHPA019208.

Interactioni

Protein-protein interaction databases

BioGridi116295. 35 interactors.
IntActiQ7KYR7. 2 interactors.
STRINGi9606.ENSP00000312158.

Structurei

3D structure databases

ProteinModelPortaliQ7KYR7.
SMRiQ7KYR7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini29 – 141Ig-like V-typeAdd BLAST113
Domaini310 – 506B30.2/SPRYPROSITE-ProRule annotationAdd BLAST197

Sequence similaritiesi

Contains 1 B30.2/SPRY domain.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil, Immunoglobulin domain, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IJI4. Eukaryota.
ENOG410YA6W. LUCA.
GeneTreeiENSGT00760000118933.
HOGENOMiHOG000230860.
HOVERGENiHBG050747.
InParanoidiQ7KYR7.
KOiK06712.
OMAiEMRGHED.
OrthoDBiEOG091G07OP.
PhylomeDBiQ7KYR7.
TreeFamiTF331083.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR013320. ConA-like_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
IPR006574. PRY.
IPR003877. SPRY_dom.
[Graphical view]
PfamiPF13765. PRY. 1 hit.
PF00622. SPRY. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSiPR01407. BUTYPHLNCDUF.
SMARTiSM00409. IG. 1 hit.
SM00406. IGv. 1 hit.
SM00589. PRY. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view]

Sequences (6)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q7KYR7-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MESAAALHFS RPASLLLLLL SLCALVSAQF IVVGPTDPIL ATVGENTTLR
60 70 80 90 100
CHLSPEKNAE DMEVRWFRSQ FSPAVFVYKG GRERTEEQME EYRGRTTFVS
110 120 130 140 150
KDISRGSVAL VIHNITAQEN GTYRCYFQEG RSYDEAILHL VVAGLGSKPL
160 170 180 190 200
ISMRGHEDGG IRLECISRGW YPKPLTVWRD PYGGVAPALK EVSMPDADGL
210 220 230 240 250
FMVTTAVIIR DKSVRNMSCS INNTLLGQKK ESVIFIPESF MPSVSPCAVA
260 270 280 290 300
LPIIVVILMI PIAVCIYWIN KLQKEKKILS GEKEFERETR EIALKELEKE
310 320 330 340 350
RVQKEEELQV KEKLQEELRW RRTFLHAVDV VLDPDTAHPD LFLSEDRRSV
360 370 380 390 400
RRCPFRHLGE SVPDNPERFD SQPCVLGRES FASGKHYWEV EVENVIEWTV
410 420 430 440 450
GVCRDSVERK GEVLLIPQNG FWTLEMHKGQ YRAVSSPDRI LPLKESLCRV
460 470 480 490 500
GVFLDYEAGD VSFYNMRDRS HIYTCPRSAF SVPVRPFFRL GCEDSPIFIC
510 520
PALTGANGVT VPEEGLTLHR VGTHQSL
Length:527
Mass (Da):59,633
Last modified:November 25, 2008 - v3
Checksum:i0EB0731062E02F6C
GO
Isoform 2 (identifier: Q7KYR7-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     247-262: CAVALPIIVVILMIPI → L
     482-527: VPVRPFFRLG...LHRVGTHQSL → GPDTSQSGDP...SFLLLTRLCF

Show »
Length:528
Mass (Da):60,004
Checksum:i22EAF9F31FA2343B
GO
Isoform 3 (identifier: Q7KYR7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-152: Missing.

Note: No experimental confirmation available.
Show »
Length:375
Mass (Da):42,770
Checksum:iFB6932C0E209A02B
GO
Isoform 4 (identifier: Q7KYR7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-334: VDVVLDP → ELQFFSN
     335-527: Missing.

Note: No experimental confirmation available.
Show »
Length:334
Mass (Da):37,853
Checksum:i3BF0FE990D1F8095
GO
Isoform 5 (identifier: Q7KYR7-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.

Show »
Length:466
Mass (Da):53,204
Checksum:i854139B0C8D0E3F4
GO
Isoform 6 (identifier: Q7KYR7-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     328-330: VDV → GPV
     331-527: Missing.

Note: No experimental confirmation available.
Show »
Length:330
Mass (Da):37,240
Checksum:iC91FC3F56606AF92
GO

Sequence cautioni

The sequence BAD93014 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAB71221 differs from that shown. Reason: Erroneous gene model prediction.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29Q → H in AAC02650 (PubMed:9382921).Curated1
Sequence conflicti29Q → H in AAC02653 (PubMed:9382921).Curated1
Sequence conflicti119E → G in AAC02650 (PubMed:9382921).Curated1
Sequence conflicti119E → G in AAC02653 (PubMed:9382921).Curated1
Sequence conflicti144G → ER in AAC02650 (PubMed:9382921).Curated1
Sequence conflicti144G → ER in AAC02653 (PubMed:9382921).Curated1
Sequence conflicti208I → V in CAD97989 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_049825124R → C.Corresponds to variant rs3734539dbSNPEnsembl.1
Natural variantiVAR_061303178W → C.Corresponds to variant rs13195402dbSNPEnsembl.1
Natural variantiVAR_061304178W → L.Corresponds to variant rs13195401dbSNPEnsembl.1
Natural variantiVAR_049826207V → M.Corresponds to variant rs13195509dbSNPEnsembl.1
Natural variantiVAR_049827378R → Q.Corresponds to variant rs3734542dbSNPEnsembl.1
Natural variantiVAR_049828451G → A.Corresponds to variant rs3734543dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0127081 – 152Missing in isoform 3. 1 PublicationAdd BLAST152
Alternative sequenceiVSP_0442491 – 61Missing in isoform 5. 1 PublicationAdd BLAST61
Alternative sequenceiVSP_035843247 – 262CAVAL…LMIPI → L in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_043165328 – 334VDVVLDP → ELQFFSN in isoform 4. 1 Publication7
Alternative sequenceiVSP_045005328 – 330VDV → GPV in isoform 6. 1 Publication3
Alternative sequenceiVSP_045006331 – 527Missing in isoform 6. 1 PublicationAdd BLAST197
Alternative sequenceiVSP_043166335 – 527Missing in isoform 4. 1 PublicationAdd BLAST193
Alternative sequenceiVSP_035844482 – 527VPVRP…THQSL → GPDTSQSGDPPEPIESIPWS HSHVDKPWSFQQPPHNTHLP AASFTPTTDLSPSFLLLTRL CF in isoform 2. 1 PublicationAdd BLAST46

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U90142 mRNA. Translation: AAC02650.1.
U97496, U97495 Genomic DNA. Translation: AAC02653.1.
U97497 Genomic DNA. Translation: AAC02654.1.
U90543 mRNA. Translation: AAB53421.1.
BX538050 mRNA. Translation: CAD97989.1.
AK297098 mRNA. Translation: BAG59611.1.
AB209777 mRNA. Translation: BAD93014.1. Different initiation.
AL050330, AL121936 Genomic DNA. Translation: CAB71221.2. Sequence problems.
BC016661 mRNA. Translation: AAH16661.1.
CCDSiCCDS4613.1. [Q7KYR7-2]
CCDS47390.1. [Q7KYR7-4]
CCDS56404.1. [Q7KYR7-6]
CCDS56405.1. [Q7KYR7-5]
RefSeqiNP_001184162.1. NM_001197233.2. [Q7KYR7-5]
NP_001184163.1. NM_001197234.2. [Q7KYR7-6]
NP_008980.1. NM_007049.4. [Q7KYR7-2]
NP_510961.1. NM_078476.3. [Q7KYR7-4]
UniGeneiHs.159028.

Genome annotation databases

EnsembliENST00000312541; ENSP00000312158; ENSG00000112763. [Q7KYR7-2]
ENST00000429381; ENSP00000416945; ENSG00000112763. [Q7KYR7-4]
ENST00000469185; ENSP00000419043; ENSG00000112763. [Q7KYR7-6]
ENST00000541522; ENSP00000443909; ENSG00000112763. [Q7KYR7-5]
GeneIDi11120.
KEGGihsa:11120.
UCSCiuc003nib.4. human. [Q7KYR7-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U90142 mRNA. Translation: AAC02650.1.
U97496, U97495 Genomic DNA. Translation: AAC02653.1.
U97497 Genomic DNA. Translation: AAC02654.1.
U90543 mRNA. Translation: AAB53421.1.
BX538050 mRNA. Translation: CAD97989.1.
AK297098 mRNA. Translation: BAG59611.1.
AB209777 mRNA. Translation: BAD93014.1. Different initiation.
AL050330, AL121936 Genomic DNA. Translation: CAB71221.2. Sequence problems.
BC016661 mRNA. Translation: AAH16661.1.
CCDSiCCDS4613.1. [Q7KYR7-2]
CCDS47390.1. [Q7KYR7-4]
CCDS56404.1. [Q7KYR7-6]
CCDS56405.1. [Q7KYR7-5]
RefSeqiNP_001184162.1. NM_001197233.2. [Q7KYR7-5]
NP_001184163.1. NM_001197234.2. [Q7KYR7-6]
NP_008980.1. NM_007049.4. [Q7KYR7-2]
NP_510961.1. NM_078476.3. [Q7KYR7-4]
UniGeneiHs.159028.

3D structure databases

ProteinModelPortaliQ7KYR7.
SMRiQ7KYR7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116295. 35 interactors.
IntActiQ7KYR7. 2 interactors.
STRINGi9606.ENSP00000312158.

PTM databases

iPTMnetiQ7KYR7.
PhosphoSitePlusiQ7KYR7.

Polymorphism and mutation databases

BioMutaiBTN2A1.
DMDMi215274180.

Proteomic databases

EPDiQ7KYR7.
PaxDbiQ7KYR7.
PeptideAtlasiQ7KYR7.
PRIDEiQ7KYR7.

Protocols and materials databases

DNASUi11120.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312541; ENSP00000312158; ENSG00000112763. [Q7KYR7-2]
ENST00000429381; ENSP00000416945; ENSG00000112763. [Q7KYR7-4]
ENST00000469185; ENSP00000419043; ENSG00000112763. [Q7KYR7-6]
ENST00000541522; ENSP00000443909; ENSG00000112763. [Q7KYR7-5]
GeneIDi11120.
KEGGihsa:11120.
UCSCiuc003nib.4. human. [Q7KYR7-2]

Organism-specific databases

CTDi11120.
DisGeNETi11120.
GeneCardsiBTN2A1.
H-InvDBHIX0005650.
HGNCiHGNC:1136. BTN2A1.
HPAiHPA019208.
MIMi613590. gene.
neXtProtiNX_Q7KYR7.
OpenTargetsiENSG00000112763.
PharmGKBiPA25456.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IJI4. Eukaryota.
ENOG410YA6W. LUCA.
GeneTreeiENSGT00760000118933.
HOGENOMiHOG000230860.
HOVERGENiHBG050747.
InParanoidiQ7KYR7.
KOiK06712.
OMAiEMRGHED.
OrthoDBiEOG091G07OP.
PhylomeDBiQ7KYR7.
TreeFamiTF331083.

Miscellaneous databases

ChiTaRSiBTN2A1. human.
GenomeRNAii11120.
PROiQ7KYR7.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112763.
CleanExiHS_BTN2A1.
ExpressionAtlasiQ7KYR7. baseline and differential.
GenevisibleiQ7KYR7. HS.

Family and domain databases

Gene3Di2.60.40.10. 2 hits.
InterProiIPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR013320. ConA-like_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
IPR006574. PRY.
IPR003877. SPRY_dom.
[Graphical view]
PfamiPF13765. PRY. 1 hit.
PF00622. SPRY. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSiPR01407. BUTYPHLNCDUF.
SMARTiSM00409. IG. 1 hit.
SM00406. IGv. 1 hit.
SM00589. PRY. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 2 hits.
SSF49899. SSF49899. 1 hit.
PROSITEiPS50188. B302_SPRY. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBT2A1_HUMAN
AccessioniPrimary (citable) accession number: Q7KYR7
Secondary accession number(s): B4DLP9
, E9PGR4, O00475, P78408, Q59EN4, Q7KYQ7, Q7Z386, Q96AV7, Q9NU62
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: November 25, 2008
Last modified: November 2, 2016
This is version 124 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.