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Alternative titles; symbolsC1q-RELATED FACTOR; CRFC1QRFHGNC Approved Gene Symbol: C1QL1Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,959...

Alternative titles; symbols

  • C1QRF

HGNC Approved Gene Symbol: C1QL1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:44,959,692-44,968,302 (from NCBI)

▼ Cloning and Expression
Berube et al. (1999) isolated mouse and human C1QL1 cDNA, which they called CRF. The deduced 258-amino acid human protein has a predicted molecular mass of 28.4 kD and shares 97% homology with the mouse protein. C1QL1 has a C-terminal globular domain that shares homology with the C1q signature domain of C1q subunits (see C1QA; 120550) and an N-terminal collagenous domain and a hydrophobic sequence. Dot-blot analysis of human tissues detected C1QL1 in all specific brain regions examined as well as in adult kidney, lung, small intestine, appendix, heart, colon, bladder, uterus, prostate, stomach, and fetal brain, heart, and kidney. Immunofluorescence localized C1QL1 exclusively to clusters in the cytoplasm, likely to Golgi or endoplasmic reticulum. In situ hybridization of mouse brain detected highest expression in cerebellar Purkinje cells, the accessory and inferior olivary nucleus, the red nucleus, and the cortex.

Bolliger et al. (2011) stated that all 4 mammalian C1QL proteins have the same domain structure, consisting of an N-terminal signal peptide, followed by a short cysteine loop domain, a central collagen-like sequence, and a C-terminal globular C1q (gC1q) domain. Biochemical analyses showed that all 4 mouse C1ql proteins formed higher-order oligomers via interactions within their gC1q domains and/or their collagenous and cysteine loop domains.

Using quantitative RT-PCR, Martinelli et al. (2016) showed that C1ql3 (615227) was broadly expressed in mouse brain, including in all cortical areas tested. C1ql1 was detected at low levels in most mouse brain regions examined except hindbrain, whereas C1ql2 (614330) was only expressed at high levels in hippocampus.

▼ Gene Function
By coimmunoprecipitation analysis, Peterson et al. (2009) showed that human CRF formed secreted heterooligomeric complexes with human CTRP1 (C1QTNF1; 610365), CTRP8 (C1QTNF8; 614147), CTRP9 (C1QTNF9; 614285), and CTRP10 (C1QL2; 614330), but not with other C1q/TNF family members, in transfected HEK293T cells.

By immunoprecipitation analysis, Bolliger et al. (2011) showed that all mouse C1ql proteins interacted with human BAI3 (602684). The interactions required divalent cations, most likely Ca(2+). Binding was mediated by the gC1q domains of the C1ql proteins and the thrombospondin repeats of BAI3. Treatment of cultured mouse primary hippocampal neurons with recombinant gC1q domains of C1ql proteins decreased synapse density, but did not alter overall neuron size, dendrite length, or dendritic branching.

Martinelli et al. (2016) showed that expression of C1ql genes promoted excitatory synapse density in cultured mouse neurons, whereas knockdown decreased it and prevented increased synaptogenesis.

▼ Gene Structure
Berube et al. (1999) determined that the C1QL1 gene contains 2 exons.

▼ Mapping
By FISH analysis, Berube et al. (1999) mapped the C1QL1 gene to chromosome 17q21.

Tags: 17q21.31