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Q7KYR7 (BT2A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Butyrophilin subfamily 2 member A1
Gene names
Name:BTN2A1
Synonyms:BT2.1, BTF1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length527 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Membrane; Single-pass type I membrane protein By similarity.

Tissue specificity

Highly expressed in brain, bone marrow, small intestine, muscle, spleen and pancreas. Moderate expression was seen in lung, liver and kidney. Ref.2

Sequence similarities

Belongs to the immunoglobulin superfamily. BTN/MOG family.

Contains 1 B30.2/SPRY domain.

Contains 1 Ig-like V-type (immunoglobulin-like) domain.

Sequence caution

The sequence BAD93014.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

The sequence CAB71221.2 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Alternative products

This entry describes 6 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q7KYR7-2)

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.
Isoform 2 (identifier: Q7KYR7-1)

The sequence of this isoform differs from the canonical sequence as follows:
     247-262: CAVALPIIVVILMIPI → L
     482-527: VPVRPFFRLG...LHRVGTHQSL → GPDTSQSGDP...SFLLLTRLCF
Isoform 3 (identifier: Q7KYR7-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-152: Missing.
Note: No experimental confirmation available.
Isoform 4 (identifier: Q7KYR7-4)

The sequence of this isoform differs from the canonical sequence as follows:
     328-334: VDVVLDP → ELQFFSN
     335-527: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q7KYR7-5)

The sequence of this isoform differs from the canonical sequence as follows:
     1-61: Missing.
Isoform 6 (identifier: Q7KYR7-6)

The sequence of this isoform differs from the canonical sequence as follows:
     328-330: VDV → GPV
     331-527: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2828 Potential
Chain29 – 527499Butyrophilin subfamily 2 member A1
PRO_0000014529

Regions

Topological domain29 – 248220Extracellular Potential
Transmembrane249 – 26921Helical; Potential
Topological domain270 – 527258Cytoplasmic Potential
Domain29 – 141113Ig-like V-type
Domain310 – 506197B30.2/SPRY

Amino acid modifications

Glycosylation461N-linked (GlcNAc...) Potential
Glycosylation1141N-linked (GlcNAc...) Ref.8
Glycosylation1201N-linked (GlcNAc...) Ref.8
Disulfide bond51 ↔ 125 By similarity

Natural variations

Alternative sequence1 – 152152Missing in isoform 3.
VSP_012708
Alternative sequence1 – 6161Missing in isoform 5.
VSP_044249
Alternative sequence247 – 26216CAVAL…LMIPI → L in isoform 2.
VSP_035843
Alternative sequence328 – 3347VDVVLDP → ELQFFSN in isoform 4.
VSP_043165
Alternative sequence328 – 3303VDV → GPV in isoform 6.
VSP_045005
Alternative sequence331 – 527197Missing in isoform 6.
VSP_045006
Alternative sequence335 – 527193Missing in isoform 4.
VSP_043166
Alternative sequence482 – 52746VPVRP…THQSL → GPDTSQSGDPPEPIESIPWS HSHVDKPWSFQQPPHNTHLP AASFTPTTDLSPSFLLLTRL CF in isoform 2.
VSP_035844
Natural variant1241R → C.
Corresponds to variant rs3734539 [ dbSNP | Ensembl ].
VAR_049825
Natural variant1781W → C.
Corresponds to variant rs13195402 [ dbSNP | Ensembl ].
VAR_061303
Natural variant1781W → L.
Corresponds to variant rs13195401 [ dbSNP | Ensembl ].
VAR_061304
Natural variant2071V → M.
Corresponds to variant rs13195509 [ dbSNP | Ensembl ].
VAR_049826
Natural variant3781R → Q.
Corresponds to variant rs3734542 [ dbSNP | Ensembl ].
VAR_049827
Natural variant4511G → A.
Corresponds to variant rs3734543 [ dbSNP | Ensembl ].
VAR_049828

Experimental info

Sequence conflict291Q → H in AAC02650. Ref.1
Sequence conflict291Q → H in AAC02653. Ref.1
Sequence conflict1191E → G in AAC02650. Ref.1
Sequence conflict1191E → G in AAC02653. Ref.1
Sequence conflict1441G → ER in AAC02650. Ref.1
Sequence conflict1441G → ER in AAC02653. Ref.1
Sequence conflict2081I → V in CAD97989. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 3.
Checksum: 0EB0731062E02F6C

FASTA52759,633
        10         20         30         40         50         60 
MESAAALHFS RPASLLLLLL SLCALVSAQF IVVGPTDPIL ATVGENTTLR CHLSPEKNAE 

        70         80         90        100        110        120 
DMEVRWFRSQ FSPAVFVYKG GRERTEEQME EYRGRTTFVS KDISRGSVAL VIHNITAQEN 

       130        140        150        160        170        180 
GTYRCYFQEG RSYDEAILHL VVAGLGSKPL ISMRGHEDGG IRLECISRGW YPKPLTVWRD 

       190        200        210        220        230        240 
PYGGVAPALK EVSMPDADGL FMVTTAVIIR DKSVRNMSCS INNTLLGQKK ESVIFIPESF 

       250        260        270        280        290        300 
MPSVSPCAVA LPIIVVILMI PIAVCIYWIN KLQKEKKILS GEKEFERETR EIALKELEKE 

       310        320        330        340        350        360 
RVQKEEELQV KEKLQEELRW RRTFLHAVDV VLDPDTAHPD LFLSEDRRSV RRCPFRHLGE 

       370        380        390        400        410        420 
SVPDNPERFD SQPCVLGRES FASGKHYWEV EVENVIEWTV GVCRDSVERK GEVLLIPQNG 

       430        440        450        460        470        480 
FWTLEMHKGQ YRAVSSPDRI LPLKESLCRV GVFLDYEAGD VSFYNMRDRS HIYTCPRSAF 

       490        500        510        520 
SVPVRPFFRL GCEDSPIFIC PALTGANGVT VPEEGLTLHR VGTHQSL 

« Hide

Isoform 2 [UniParc].

Checksum: 22EAF9F31FA2343B
Show »

FASTA52860,004
Isoform 3 [UniParc].

Checksum: FB6932C0E209A02B
Show »

FASTA37542,770
Isoform 4 [UniParc].

Checksum: 3BF0FE990D1F8095
Show »

FASTA33437,853
Isoform 5 [UniParc].

Checksum: 854139B0C8D0E3F4
Show »

FASTA46653,204
Isoform 6 [UniParc].

Checksum: C91FC3F56606AF92
Show »

FASTA33037,240

References

« Hide 'large scale' references
[1]"Cloning, localization, and structure of new members of the butyrophilin gene family in the juxta-telomeric region of the major histocompatibility complex."
Tazi-Ahnini R., Henry J., Offer C., Bouissou-Bouchouata C., Mather I.H., Pontarotti P.
Immunogenetics 47:55-63(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2).
[2]"A 1.1-Mb transcript map of the hereditary hemochromatosis locus."
Ruddy D.A., Kronmal G.S., Lee V.K., Mintier G.A., Quintana L., Domingo R. Jr., Meyer N.C., Irrinki A., McClelland E.E., Fullan A., Mapa F.A., Moore T., Thomas W., Loeb D.B., Harmon C., Tsuchihashi Z., Wolff R.K., Schatzman R.C., Feder J.N.
Genome Res. 7:441-456(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Colon endothelium.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
Tissue: Placenta.
[5]"Homo sapiens protein coding cDNA."
Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S., Ohara O., Nagase T., Kikuno R.F.
Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6).
Tissue: Brain.
[6]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
Tissue: Lymph.
[8]"Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M., Schiess R., Aebersold R., Watts J.D.
Nat. Biotechnol. 27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-114 AND ASN-120.
Tissue: Leukemic T-cell.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS4613.1. [Q7KYR7-2]
CCDS47390.1. [Q7KYR7-4]
CCDS56404.1. [Q7KYR7-6]
CCDS56405.1. [Q7KYR7-5]
RefSeqNP_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]
UniGeneHs.159028.

3D structure databases

ProteinModelPortalQ7KYR7.
SMRQ7KYR7. Positions 28-237, 287-501.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116295. 1 interaction.
IntActQ7KYR7. 2 interactions.
STRING9606.ENSP00000312158.

Protein family/group databases

MEROPSI43.001.

PTM databases

PhosphoSiteQ7KYR7.

Polymorphism databases

DMDM215274180.

Proteomic databases

MaxQBQ7KYR7.
PaxDbQ7KYR7.
PRIDEQ7KYR7.

Protocols and materials databases

DNASU11120.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000312541; ENSP00000312158; ENSG00000112763. [Q7KYR7-2]
ENST00000429381; ENSP00000416945; ENSG00000112763. [Q7KYR7-4]
ENST00000469185; ENSP00000419043; ENSG00000112763. [Q7KYR7-6]
ENST00000541522; ENSP00000443909; ENSG00000112763. [Q7KYR7-5]
GeneID11120.
KEGGhsa:11120.
UCSCuc003nib.2. human. [Q7KYR7-2]
uc003nic.2. human. [Q7KYR7-4]

Organism-specific databases

CTD11120.
GeneCardsGC06P026458.
H-InvDBHIX0005650.
HGNCHGNC:1136. BTN2A1.
HPAHPA019208.
MIM613590. gene.
neXtProtNX_Q7KYR7.
PharmGKBPA25456.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253704.
HOGENOMHOG000230860.
HOVERGENHBG050747.
InParanoidQ7KYR7.
KOK06712.
OMAEMRGHED.
PhylomeDBQ7KYR7.
TreeFamTF331083.

Gene expression databases

ArrayExpressQ7KYR7.
BgeeQ7KYR7.
CleanExHS_BTN2A1.
GenevestigatorQ7KYR7.

Family and domain databases

Gene3D2.60.40.10. 2 hits.
InterProIPR001870. B30.2/SPRY.
IPR003879. Butyrophylin.
IPR013162. CD80_C2-set.
IPR008985. ConA-like_lec_gl_sf.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR003599. Ig_sub.
IPR013106. Ig_V-set.
IPR006574. PRY.
IPR018355. SPla/RYanodine_receptor_subgr.
IPR003877. SPRY_rcpt.
[Graphical view]
PfamPF08205. C2-set_2. 1 hit.
PF13765. PRY. 1 hit.
PF00622. SPRY. 1 hit.
PF07686. V-set. 1 hit.
[Graphical view]
PRINTSPR01407. BUTYPHLNCDUF.
SMARTSM00409. IG. 1 hit.
SM00589. PRY. 1 hit.
SM00449. SPRY. 1 hit.
[Graphical view]
SUPFAMSSF49899. SSF49899. 1 hit.
PROSITEPS50188. B302_SPRY. 1 hit.
PS50835. IG_LIKE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBTN2A1. human.
GenomeRNAi11120.
NextBio42264.
PROQ7KYR7.
SOURCESearch...

Entry information

Entry nameBT2A1_HUMAN
AccessionPrimary (citable) accession number: Q7KYR7
Secondary accession number(s): B4DLP9 expand/collapse secondary AC list , E9PGR4, O00475, P78408, Q59EN4, Q7KYQ7, Q7Z386, Q96AV7, Q9NU62
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 105 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM