Online Mendelian Inheritance in Man (OMIM) (original) (raw)

* 604989

SPONDIN 1; SPON1

Alternative titles; symbols

F-SPONDIN, RAT, HOMOLOG OF

KIAA0762

HGNC Approved Gene Symbol: SPON1

Cytogenetic location: 11p15.2 Genomic coordinates (GRCh38) : 11:13,962,723-14,268,133 (from NCBI)

TEXT

Cloning and Expression

By screening human brain cDNAs for the potential to encode proteins that are at least 50 kD, Nagase et al. (1998) isolated a partial SPON1 cDNA, which they called KIAA0762. The deduced 624-amino acid partial SPON1 protein shares 96.8% amino acid sequence identity with the rat F-spondin precursor across 624 residues. Analysis of SPON1 expression in 10 human tissues by RT-PCR followed by ELISA detected highest SPON1 expression in lung, lower expression in brain, heart, kidney, liver, and testis, and lowest expression in pancreas, skeletal muscle, and ovary; no expression was found in spleen.

Gene Function

Ho and Sudhof (2004) found that rat brain Spon1 immunoprecipitated with a critical central sequence of APP (104760). In vitro binding assays using mutated human proteins confirmed that SPON1 specifically bound to the central APP domain (CAPPD). SPON1 inhibited APP cleavage by BACE1 (604252), the primary beta-secretase involved in APP processing. Binding also impaired APP- and FE65 (602709)-dependent transactivation of the chromosome remodeling factor TIP60 (601409). Ho and Sudhof (2004) concluded that, by binding to the extracellular CAPPD of APP, SPON1 inhibits APP processing and thereby impairs APP-dependent transcriptional transactivation.

Mapping

By analysis of a radiation hybrid mapping panel, Nagase et al. (1998) mapped the SPON1 gene to chromosome 11.

REFERENCES

  1. Ho, A., Sudhof, T. C.Binding of F-spondin to amyloid-beta precursor protein: a candidate amyloid-beta precursor protein ligand that modulates amyloid-beta precursor protein cleavage. Proc. Nat. Acad. Sci. 101: 2548-2553, 2004. [PubMed: 14983046] [Full Text: https://doi.org/10.1073/pnas.0308655100\]
  2. Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O.Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. DNA Res. 5: 277-286, 1998. [PubMed: 9872452] [Full Text: https://doi.org/10.1093/dnares/5.5.277\]

Contributors:

Patricia A. Hartz - updated : 3/16/2004

Creation Date:

Patti M. Sherman : 5/23/2000

Edit History:

mgross : 03/23/2004
terry : 3/16/2004
mcapotos : 6/2/2000
psherman : 5/23/2000