ADIPOQ adiponectin, C1Q and collagen domain containing [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADIPOQprovided by HGNC
Official Full Name: adiponectin, C1Q and collagen domain containingprovided by HGNC
Primary source: HGNC:HGNC:13633
See related: Ensembl:ENSG00000181092 MIM:605441; AllianceGenome:HGNC:13633
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ACDC; ADPN; APM1; APM-1; GBP28; ACRP30; ADIPQTL1
Summary: This gene is expressed in adipose tissue exclusively. It encodes a protein with similarity to collagens X and VIII and complement factor C1q. The encoded protein circulates in the plasma and is involved with metabolic and hormonal processes. Mutations in this gene are associated with adiponectin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Apr 2010]
Expression: Restricted expression toward fat (RPKM 648.8) See more
Orthologs: mouse all
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Genomic context

Location:: 3q27.3

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (186842710..186858463)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (189664780..189680531)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (186560499..186576252)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

Association of adiponectin gene single nucleotide polymorphisms with environmental risk factors in type 2 diabetes mellitus: An updated evidence of haplotype-based analysis study.
Title: Association of adiponectin gene single nucleotide polymorphisms with environmental risk factors in type 2 diabetes mellitus: An updated evidence of haplotype-based analysis study.
Regulation and molecular mechanism of adiponectin on the proliferation, apoptosis, autophagy, and chemosensitivity of LN18 Glioma cell line.
Title: Regulation and molecular mechanism of adiponectin on the proliferation, apoptosis, autophagy, and chemosensitivity of LN18 Glioma cell line.
Association of rs2241766 and rs1501299 polymorphisms in the adiponectin gene with metabolic syndrome.
Title: Association of rs2241766 and rs1501299 polymorphisms in the adiponectin gene with metabolic syndrome.
Associations Between Adiponectin and the Development of Diabetes in Rheumatoid Arthritis.
Title: Associations Between Adiponectin and the Development of Diabetes in Rheumatoid Arthritis.
Role of leptin and adiponectin in the pathogenesis of post-transplant diabetes mellitus.
Title: Role of leptin and adiponectin in the pathogenesis of post-transplant diabetes mellitus.
A Systematic Narrative Review on ADIPOQ Gene Variants and its Association with T2DM in the Indian Population.
Title: A Systematic Narrative Review on ADIPOQ Gene Variants and its Association with T2DM in the Indian Population.
Inflammatory markers and body mass index amoung hispanic children.
Title: Inflammatory markers and body mass index amoung hispanic children.
Weight-loss maintenance is accompanied by interconnected alterations in circulating FGF21-adiponectin-leptin and bioactive sphingolipids.
Title: Weight-loss maintenance is accompanied by interconnected alterations in circulating FGF21-adiponectin-leptin and bioactive sphingolipids.
The Association of Plasma Leptin, Soluble Leptin Receptor and Total and High-Molecular Weight Adiponectin With the Risk of Perioperative Neurocognitive Disorders.
Title: The Association of Plasma Leptin, Soluble Leptin Receptor and Total and High-Molecular Weight Adiponectin With the Risk of Perioperative Neurocognitive Disorders.
Hypertension and diabetes, but not leptin and adiponectin, mediate the relationship between body fat and chronic kidney disease.
Title: Hypertension and diabetes, but not leptin and adiponectin, mediate the relationship between body fat and chronic kidney disease.

Submit: New GeneRIF Correction See all GeneRIFs (2326)

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

Associated conditions

Description	Tests
Adiponectin deficiency MedGen: C2675517 OMIM: 612556 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
A meta-analysis of genome-wide association studies for adiponectin levels in East Asians identifies a novel locus near WDR11-FGFR2. EBI GWAS Catalog EBI GWAS CatalogPubMed
Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1-ADIPOQ. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel locus FER is associated with serum HMW adiponectin levels. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infected clinical samples have plasma extracellular vesicles that contain elevated CCL1 (I309), IGFBP1, CCL5 (RANTES), GMCSF, ANG, ADIPOQ (ACRP30), CSF3 (GCSF), CXCL1 (GRO), ICAM1, IL2RA, IL6R, TNFRSF1A, and TIMP1 when compared to healthy donors	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat downregulates the expression of adiponectin protein and upregulates the expression of IL-6, IL-8, and MCP-1 proteins in human SGBS preadipocytes	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

GDB:313513 (e-PCR)
- UniSTS:46122

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:483895

L17709 (e-PCR)
- UniSTS:42599

G29832 (e-PCR)
- UniSTS:10094

L17971 (e-PCR)
- UniSTS:43966

GDB:631802 (e-PCR)
- UniSTS:158429

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytokine activity	NAS Non-traceable Author Statement more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables hormone activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activator activity	IEA Inferred from Electronic Annotation more info
enables sialic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables signaling receptor binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed

Process	Evidence Code	Pubs
involved_in brown fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to cAMP	IEA Inferred from Electronic Annotation more info
involved_in cellular response to epinephrine stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to insulin stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to xenobiotic stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in circadian rhythm	IEA Inferred from Electronic Annotation more info
involved_in detection of oxidative stress	ISS Inferred from Sequence or Structural Similarity more info
involved_in fatty acid beta-oxidation	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in fatty acid oxidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in gene expression	IEA Inferred from Electronic Annotation more info
involved_in generation of precursor metabolites and energy	TAS Traceable Author Statement more info	PubMed
involved_in glucose homeostasis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in glucose metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in low-density lipoprotein particle clearance	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of MAP kinase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of blood pressure	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of fat cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of gluconeogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of granulocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of hormone secretion	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of inflammatory response	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of inflammatory response	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of intracellular protein transport	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of negative regulation of low-density lipoprotein receptor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of macrophage derived foam cell differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of macrophage differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of metanephric mesenchymal cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of phagocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of platelet-derived growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of platelet-derived growth factor receptor-alpha signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein autophosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of receptor binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of synaptic transmission	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor production	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of tumor necrosis factor-mediated signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell migration	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of vascular associated smooth muscle cell proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of D-glucose import	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of cAMP-dependent protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cAMP/PKA signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of canonical NF-kappaB signal transduction	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cholesterol efflux	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of fatty acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of glycogen (starch) synthase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of interleukin-8 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of lipid transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of metanephric podocyte development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of monocyte chemotactic protein-1 production	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of myeloid cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptidyl-tyrosine phosphorylation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of renal albumin absorption	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of signal transduction	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in protein localization to plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of glucose metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in response to activity	IEA Inferred from Electronic Annotation more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in response to ethanol	IEA Inferred from Electronic Annotation more info
involved_in response to glucocorticoid	IEA Inferred from Electronic Annotation more info
involved_in response to glucose	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in response to hypoxia	IEA Inferred from Electronic Annotation more info
involved_in response to linoleic acid	IEA Inferred from Electronic Annotation more info
involved_in response to nutrient	IEA Inferred from Electronic Annotation more info
involved_in response to sucrose	IEA Inferred from Electronic Annotation more info
involved_in response to tumor necrosis factor	IDA Inferred from Direct Assay more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: adiponectin

Names: 30 kDa adipocyte complement-related protein; adipocyte complement-related 30 kDa protein; adipose most abundant gene transcript 1 protein; adipose specific collagen-like factor; gelatin-binding protein 28

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.

Genomic

NG_021140.1 RefSeqGene

Range

5037..20790

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001177800.2 → NP_001171271.1 adiponectin precursor

See identical proteins and their annotated locations for NP_001171271.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC072018, AK312868

Consensus CDS

CCDS3284.1

UniProtKB/Swiss-Prot

Q15848, Q58EX9

UniProtKB/TrEMBL

A8K660, B2R773

Related

ENSP00000389814.2, ENST00000444204.2

Conserved Domains (2) summary

smart00110
Location:106 → 242

C1Q; Complement component C1q domain

pfam01391
Location:42 → 106

Collagen; Collagen triple helix repeat (20 copies)
NM_004797.4 → NP_004788.1 adiponectin precursor

See identical proteins and their annotated locations for NP_004788.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.

Source sequence(s)

AC072018, AK291525, BC096308

Consensus CDS

CCDS3284.1

UniProtKB/Swiss-Prot

Q15848, Q58EX9

UniProtKB/TrEMBL

A8K660, B2R773

Related

ENSP00000320709.2, ENST00000320741.7

Conserved Domains (2) summary

smart00110
Location:106 → 242

C1Q; Complement component C1q domain

pfam01391
Location:42 → 106

Collagen; Collagen triple helix repeat (20 copies)