C1QL1 complement C1q like 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1QL1provided by HGNC
Official Full Name: complement C1q like 1provided by HGNC
Primary source: HGNC:HGNC:24182
See related: Ensembl:ENSG00000131094 MIM:611586; AllianceGenome:HGNC:24182
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CRF; C1QRF; CTRP14; C1QTNF14
Summary: Predicted to enable signaling receptor binding activity. Predicted to be involved in regulation of synapse pruning. Predicted to act upstream of or within maintenance of synapse structure; motor learning; and neuron remodeling. Predicted to be located in several cellular components, including climbing fiber; extracellular region; and presynapse. Predicted to be part of collagen trimer. Predicted to be active in cerebellar climbing fiber to Purkinje cell synapse and synaptic cleft. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in brain (RPKM 10.8), kidney (RPKM 1.7) and 4 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q21.31

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (44959693..44968303, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (45813611..45822225, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (43037061..43045671, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

We conclude that the underexpression of CRABP1 and the overexpression of LCN2 may be useful diagnostic biomarkers in thyroid tumours with questionable malignity, and the overexpression of LCN2 and C1QL1 may be useful for prognostic purposes.
Title: CRABP1, C1QL1 and LCN2 are biomarkers of differentiated thyroid carcinoma, and predict extrathyroidal extension.
Observational study of gene-disease association. (HuGE Navigator)
Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Conserved recoding RNA editing of vertebrate C1q-related factor C1QL1.
Title: Conserved recoding RNA editing of vertebrate C1q-related factor C1QL1.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in locomotory behavior	NAS Non-traceable Author Statement more info	PubMed
involved_in maintenance of synapse structure	IEA Inferred from Electronic Annotation more info
involved_in motor learning	IEA Inferred from Electronic Annotation more info
involved_in neuron remodeling	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse pruning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cerebellar climbing fiber to Purkinje cell synapse	IEA Inferred from Electronic Annotation more info
located_in climbing fiber	IEA Inferred from Electronic Annotation more info
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in presynapse	IEA Inferred from Electronic Annotation more info
located_in synaptic cleft	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: C1q-related factor

Names: C1q and tumor necrosis factor-related protein 14; C1q/TNF-related protein 14; complement component 1, q subcomponent-like 1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.