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Pfam summary | |||||||||||||||||||||||||||||||||||||
| Description | CD20/IgE Fc receptor beta subunit family | This family includes the CD20 protein and the beta subunit of the high affinity receptor for IgE Fc. The high affinity receptor for IgE is a tetrameric structure consisting of a single IgE-binding alpha subunit, a single beta subunit, and two disulfide-linked gamma subunits. The alpha subunit of Fc epsilon RI and most Fc receptors are homologous members of the Ig superfamily. By contrast, the beta and gamma subunits from Fc epsilon RI are not homologous to the Ig superfamily. Both molecules have four putative transmembrane segments and a probably topology where both amino- and carboxy termini protrude into the cytoplasm [1]. This family also includes LR8 like proteins from humans, mice and rats. The function of the human LR8 protein is unknown although it is known to be strongly expressed in the lung fibroblasts [2]. This family also includes sarcospan is a transmembrane component of dystrophin-associated glycoprotein. Loss of the sarcoglycan complex and sarcospan alone is sufficient to cause muscular dystrophy. The role of the sarcoglycan complex and sarcospan is thought to be to strengthen the dystrophin axis connecting the basement membrane with the cytoskeleton [3]. | |||||||||||||||||||||||||||||||||||
| Literature | 1. Hupp K, Siwarski D, Mock BA, Kinet JP; J Immunol 1989;143:3787-3791.Gene mapping of the three subunits of the high affinity FcR for IgE to mouse chromosomes 1 and 19. PUBMED:2531187 2. Lurton J, Rose TM, Raghu G, Narayanan AS; Am J Respir Cell Mol Biol 1999;20:327-331.Isolation of a gene product expressed by a subpopulation of human lung fibroblasts by differential display. PUBMED:9922225 3. Araishi K, Sasaoka T, Imamura M, Noguchi S, Hama H, Wakabayashi E, Yoshida M, Hori T, Ozawa E; Hum Mol Genet. 1999;8:1589-1598.Loss of the sarcoglycan complex and sarcospan leads to muscular dystrophy in beta-sarcoglycan-deficient mice. PUBMED:10441321 | ||||||||||||||||||||||||||||||||||||
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| Clan | CL0347 (Tetraspannin) | ||||||||||||||||||||||||||||||||||||
| The clan contains the following members: PF04103(CD20); PF00335(Tetraspannin); | |||||||||||||||||||||||||||||||||||||
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| InterPro entry | IPR007237 | ||||||||||||||||||||||||||||||||||||
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Alignment |
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The seed alignment for this family in the PANDIT database contains 16 aligned sequences: | |||||||||||||||||||||||||||||||||||||
|   | CD20_HUMAN/58-224 CD20_MOUSE/51-218 FCEB_HUMAN/67-212 FCEB_MOUSE/59-203 M4A12_HUMAN/97-232 M4A4A_HUMAN/72-215 M4A6A_HUMAN/54-216 M4A6C_MOUSE/54-215 M4A6D_MOUSE/54-215 M4A7_HUMAN/54-215 M4A8A_MOUSE/113-252 M4A8B_HUMAN/78-215 MS4A5_HUMAN/56-197 Q9D2W6_MOUSE/54-193 Q9D3F6_MOUSE/50-179 Q9ES61_MOUSE/50-179 | ||||||||||||||||||||||||||||||||||||
The full alignment for this family in the Pfam database contains 299 aligned sequences
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Species in the seed alignment | |||||||||||||||||||||||||||||||||||||
List of species covered in the seed alignment. The number in brackets denotes the number of sequences taken from each organism. | |||||||||||||||||||||||||||||||||||||
|   | Homo sapiens (8); Mus musculus (8); | ||||||||||||||||||||||||||||||||||||
The full alignment covers 51 species. | |||||||||||||||||||||||||||||||||||||
Pre-computed estimates from Markov codon substitution models (explanation) | |||||||||||||||||||||||||||||||||||||
Following are maximum-likelihood estimates and log-likelihood scores from codon models M0, M1, M2, M7 and M8, implemented in PAML v.4.1 | |||||||||||||||||||||||||||||||||||||
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Positively selected sites - the underlined numbers denote the position in the AA sequence, while the number in brackets denote the estimated probability for having positive selection at that position. Only positions where the estimated probability for positive selection is ≥0.95 are shown. | |||||||||||||||||||||||||||||||||||||
| Model M8: | |||||||||||||||||||||||||||||||||||||
| Naive Empirical Bayes (NEB) analysis: 16 (0.974); 61 (0.978); | |||||||||||||||||||||||||||||||||||||
| Bayes Empirical Bayes (BEB) analysis: 16 (0.955); 61 (0.957); | |||||||||||||||||||||||||||||||||||||
Maximum-likelihood estimates and log-likelihood scores from codon models Nonsynonymous and Dual implemented in HYPHY | |||||||||||||||||||||||||||||||||||||
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Annotations | |||||||||||||||||||||||||||||||||||||
| Interactions | This family has 0 known interactions: | ||||||||||||||||||||||||||||||||||||
| Structures | This family has 3 structures: | ||||||||||||||||||||||||||||||||||||
| Notation: PDB_ID (PDB chain, PDB residues) | |||||||||||||||||||||||||||||||||||||
| Gene Ontologies | |||||||||||||||||||||||||||||||||||||
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| KEGG Pathways - for genes coding for sequences from full alignment | |||||||||||||||||||||||||||||||||||||
Expression data (explanation) | |||||||||||||||||||||||||||||||||||||
| Bgee expression data - for genes coding for sequences from seed alignment Click here for overview of Bgee data | |||||||||||||||||||||||||||||||||||||
The numbers in brackets correspond to the number of genes that are associated with the selected family and are expressed in the corresponding tissue. Click on the tissue to see all the families that possibly have function in that tissue and click on the genes to see the corresponding genes. | |||||||||||||||||||||||||||||||||||||
| Homo sapiens | |||||||||||||||||||||||||||||||||||||
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| Mus musculus | |||||||||||||||||||||||||||||||||||||
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| HumanProteinpedia expression data - for human genes coding for sequences from full alignment Click here for overview of Human Proteinpedia data | |||||||||||||||||||||||||||||||||||||
The numbers in brackets correspond to the number of human genes that are associated with the selected family and are expressed in the corresponding tissue. Click on the tissue to see all the families that possibly have function in that tissue and click on the genes to see the corresponding genes. | |||||||||||||||||||||||||||||||||||||
| Healthy tissues | |||||||||||||||||||||||||||||||||||||
| Disease tissues | |||||||||||||||||||||||||||||||||||||
Human disease association | |||||||||||||||||||||||||||||||||||||
| Genetic Association Database - data for human genes coding for sequences from full alignment | |||||||||||||||||||||||||||||||||||||
The numbers in brackets correspond to the number of genes that are associated with the selected family and are associated with the corresponding disease. Click on the disease name to see all the families possibly associated with that disease and click on the genes to see the corresponding genes. | |||||||||||||||||||||||||||||||||||||
| Associated diseases and disorders | |||||||||||||||||||||||||||||||||||||
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| Links to OMIM - for human genes coding for sequences from full alignment | |||||||||||||||||||||||||||||||||||||
602983
(1) 608403
(1) 608402
(1) 606498
(1) 601267
(1) 606549
(1) 606502
(1) 606547
(1) 602982
(1) 606921
(1) 147138
(1) 603733
(1) 606548
(1) 606550
(1) 605879
(1) 610385
(1) 605908
(1) 112210
(1) 606499
(1) 610334
(1) | |||||||||||||||||||||||||||||||||||||