C1QL4 complement C1q like 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1QL4provided by HGNC
Official Full Name: complement C1q like 4provided by HGNC
Primary source: HGNC:HGNC:31416
See related: Ensembl:ENSG00000186897 MIM:615229; AllianceGenome:HGNC:31416
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: CTRP11; C1QTNF11
Summary: Predicted to enable identical protein binding activity. Predicted to act upstream of or within negative regulation of ERK1 and ERK2 cascade; negative regulation of fat cell differentiation; and negative regulation of fibroblast proliferation. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (49332409..49337188, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (49294599..49299378, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (49726192..49730971, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: 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?

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

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 identical protein binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of ERK1 and ERK2 cascade	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in extracellular space	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: complement C1q-like protein 4

Names: C1q and tumor necrosis factor-related protein 11; C1q/TNF-related protein 11; complement component 1, q subcomponent like 4

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.

mRNA and Protein(s)

NM_001008223.2 → NP_001008224.1 complement C1q-like protein 4 precursor

See identical proteins and their annotated locations for NP_001008224.1

Status: VALIDATED

Source sequence(s)

AC125611, AF466366

Consensus CDS

CCDS31793.1

UniProtKB/Swiss-Prot

Q86Z23

UniProtKB/TrEMBL

A0A3B0INP7

Related

ENSP00000335285.3, ENST00000334221.5

Conserved Domains (1) summary

pfam00386
Location:111 → 235

C1q; C1q domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

49332409..49337188 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011538270.3 → XP_011536572.1 complement C1q-like protein 4 isoform X1

Conserved Domains (1) summary

pfam00386
Location:111 → 216

C1q; C1q domain