Q7KYR7 (BT2A1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 94.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Butyrophilin subfamily 2 member A1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 527 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence 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
| Keywords | |
|---|---|
| Cellular component | Membrane |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Immunoglobulin domain Signal Transmembrane Transmembrane helix |
| PTM | Disulfide bond Glycoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | lipid metabolic process Traceable author statement Ref.1. Source: ProtInc |
| Cellular_component | integral to plasma membrane Traceable author statement Ref.1. Source: ProtInc |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 28 | 28 | Potential | ||||||||
| Chain | 29 – 527 | 499 | Butyrophilin subfamily 2 member A1 | PRO_0000014529 | |||||||
Regions | |||||||||||
| Topological domain | 29 – 248 | 220 | Extracellular Potential | ||||||||
| Transmembrane | 249 – 269 | 21 | Helical; Potential | ||||||||
| Topological domain | 270 – 527 | 258 | Cytoplasmic Potential | ||||||||
| Domain | 29 – 141 | 113 | Ig-like V-type | ||||||||
| Domain | 310 – 506 | 197 | B30.2/SPRY | ||||||||
Amino acid modifications | |||||||||||
| Glycosylation | 46 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 114 | 1 | N-linked (GlcNAc...) Ref.8 | ||||||||
| Glycosylation | 120 | 1 | N-linked (GlcNAc...) Ref.8 | ||||||||
| Disulfide bond | 51 ↔ 125 | By similarity | |||||||||
Natural variations | |||||||||||
| Alternative sequence | 1 – 152 | 152 | Missing in isoform 3. | VSP_012708 | |||||||
| Alternative sequence | 1 – 61 | 61 | Missing in isoform 5. | VSP_044249 | |||||||
| Alternative sequence | 247 – 262 | 16 | CAVAL…LMIPI → L in isoform 2. | VSP_035843 | |||||||
| Alternative sequence | 328 – 334 | 7 | VDVVLDP → ELQFFSN in isoform 4. | VSP_043165 | |||||||
| Alternative sequence | 328 – 330 | 3 | VDV → GPV in isoform 6. | VSP_045005 | |||||||
| Alternative sequence | 331 – 527 | 197 | Missing in isoform 6. | VSP_045006 | |||||||
| Alternative sequence | 335 – 527 | 193 | Missing in isoform 4. | VSP_043166 | |||||||
| Alternative sequence | 482 – 527 | 46 | VPVRP…THQSL → GPDTSQSGDPPEPIESIPWS HSHVDKPWSFQQPPHNTHLP AASFTPTTDLSPSFLLLTRL CF in isoform 2. | VSP_035844 | |||||||
| Natural variant | 124 | 1 | R → C. Corresponds to variant rs3734539 [ dbSNP | Ensembl ]. | VAR_049825 | |||||||
| Natural variant | 178 | 1 | W → C. Corresponds to variant rs13195402 [ dbSNP | Ensembl ]. | VAR_061303 | |||||||
| Natural variant | 178 | 1 | W → L. Corresponds to variant rs13195401 [ dbSNP | Ensembl ]. | VAR_061304 | |||||||
| Natural variant | 207 | 1 | V → M. Corresponds to variant rs13195509 [ dbSNP | Ensembl ]. | VAR_049826 | |||||||
| Natural variant | 378 | 1 | R → Q. Corresponds to variant rs3734542 [ dbSNP | Ensembl ]. | VAR_049827 | |||||||
| Natural variant | 451 | 1 | G → A. Corresponds to variant rs3734543 [ dbSNP | Ensembl ]. | VAR_049828 | |||||||
Experimental info | |||||||||||
| Sequence conflict | 29 | 1 | Q → H in AAC02650. Ref.1 | ||||||||
| Sequence conflict | 29 | 1 | Q → H in AAC02653. Ref.1 | ||||||||
| Sequence conflict | 119 | 1 | E → G in AAC02650. Ref.1 | ||||||||
| Sequence conflict | 119 | 1 | E → G in AAC02653. Ref.1 | ||||||||
| Sequence conflict | 144 | 1 | G → ER in AAC02650. Ref.1 | ||||||||
| Sequence conflict | 144 | 1 | G → ER in AAC02653. Ref.1 | ||||||||
| Sequence conflict | 208 | 1 | I → V in CAD97989. Ref.3 | ||||||||
Sequences
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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. 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. 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, MASS SPECTROMETRY. 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. |
| IPI | IPI00019862. IPI00215967. IPI00549701. IPI00641524. IPI00947432. |
| RefSeq | NP_001184162.1. NM_001197233.1. NP_001184163.1. NM_001197234.1. NP_008980.1. NM_007049.3. NP_510961.1. NM_078476.2. |
| UniGene | Hs.159028. |
3D structure databases | |
| ProteinModelPortal | Q7KYR7. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q7KYR7. 2 interactions. |
| STRING | 9606.ENSP00000312158. |
Protein family/group databases | |
| MEROPS | I43.001. |
PTM databases | |
| PhosphoSite | Q7KYR7. |
Polymorphism databases | |
| DMDM | 215274180. |
Proteomic databases | |
| PaxDb | Q7KYR7. |
| PRIDE | Q7KYR7. |
Protocols and materials databases | |
| DNASU | 11120. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000312541; ENSP00000312158; ENSG00000112763. ENST00000429381; ENSP00000416945; ENSG00000112763. ENST00000469185; ENSP00000419043; ENSG00000112763. ENST00000541522; ENSP00000443909; ENSG00000112763. |
| GeneID | 11120. |
| KEGG | hsa:11120. |
| UCSC | uc003nib.2. human. |
Organism-specific databases | |
| CTD | 11120. |
| GeneCards | GC06P026458. |
| H-InvDB | HIX0005650. |
| HGNC | HGNC:1136. BTN2A1. |
| HPA | HPA019208. |
| MIM | 613590. gene. |
| neXtProt | NX_Q7KYR7. |
| PharmGKB | PA25456. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG253704. |
| HOGENOM | HOG000230860. |
| HOVERGEN | HBG050747. |
| InParanoid | Q7KYR7. |
| KO | K06712. |
Gene expression databases | |
| ArrayExpress | Q7KYR7. |
| Bgee | Q7KYR7. |
| CleanEx | HS_BTN2A1. |
| Genevestigator | Q7KYR7. |
| GermOnline | ENSG00000112763. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.60.40.10. 2 hits. |
| InterPro | IPR001870. 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] |
| Pfam | PF08205. C2-set_2. 1 hit. PF00622. SPRY. 1 hit. PF07686. V-set. 1 hit. [Graphical view] |
| PRINTS | PR01407. BUTYPHLNCDUF. |
| SMART | SM00409. IG. 1 hit. SM00589. PRY. 1 hit. SM00449. SPRY. 1 hit. [Graphical view] |
| SUPFAM | SSF49899. ConA_like_lec_gl. 1 hit. |
| PROSITE | PS50188. B302_SPRY. 1 hit. PS50835. IG_LIKE. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | BTN2A1. human. |
| GenomeRNAi | 11120. |
| NextBio | 42264. |
| SOURCE | Search... |
Entry information
| Entry name | BT2A1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q7KYR7 Secondary accession number(s): B4DLP9 Q9NU62 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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
| Human chromosome 6 Human chromosome 6: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
