Summary: Sine oculis-binding protein
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Sine oculis-binding protein Provide feedback
SOBP is associated with syndromic and nonsyndromic intellectual disability. It carries a zinc-finger of the zf-C2H2 type at the N-terminus, and a highly characteristic C-terminal PhPhPhPhPhPh motif. The deduced 873-amino acid protein contains an N-terminal nuclear localisation signal (NLS), followed by 2 FCS-type zinc finger motifs, a proline-rich region (PR1), a putative RNA-binding motif region, and a C-terminal NLS embedded in a second proline-rich motif. SOBP is expressed in various human tissues, including developing mouse brain at embryonic day 14. In postnatal and adult mouse brain SOBP is expressed in all neurons, with intense staining in the limbic system. Highest expression is in layer V cortical neurons, hippocampus, pyriform cortex, dorsomedial nucleus of thalamus, amygdala, and hypothalamus. Postnatal expression of SOBP in the limbic system corresponds to a time of active synaptogenesis . the family is also referred to as Jackson circler, JXC1. In seven affected siblings from a consanguineous Israeli Arab family with mental retardation, anterior maxillary protrusion, and strabismus mutations were found in this protein [1,2].
Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R;, Am J Med Genet A. 2007;143:1687-1691.: Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. PUBMED:17618476 EPMC:17618476
Birk E, Har-Zahav A, Manzini CM, Pasmanik-Chor M, Kornreich L, Walsh CA, Noben-Trauth K, Albin A, Simon AJ, Colleaux L, Morad Y, Rainshtein L, Tischfield DJ, Wang P, Magal N, Maya I, Shoshani N, Rechavi G, Gothelf D, Maydan G, Shohat M, Basel-Vanagaite L;, Am J Hum Genet. 2010;87:694-700.: SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system. PUBMED:21035105 EPMC:21035105
External database links
This tab holds annotation information from the InterPro database.
InterPro entry IPR026092
Retinoic acid (RA) has been shown to modulate the expression of a number of proteins implicated in the control of early embryonic development. One of these is retinoic acid-induced protein 2 (RAI2), which has been isolated in mouse [PUBMED:8314004] and humans [PUBMED:10049581].
Sine oculis-binding protein homologue (Jxc1, SOBP) is implicated in the development of the cochlea in the inner ear [PUBMED:16962269]. Mutations in this gene also cause intellectual disability (ID) [PUBMED:21035105].
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|Author:||Eberhardt RY, Coggill P, Hetherington K|
|Number in seed:||17|
|Number in full:||205|
|Average length of the domain:||252.20 aa|
|Average identity of full alignment:||33 %|
|Average coverage of the sequence by the domain:||42.45 %|
|HMM build commands:||
build method: hmmbuild -o /dev/null HMM SEED
search method: hmmsearch -Z 80369284 -E 1000 --cpu 4 HMM pfamseq
|Family (HMM) version:||2|
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