C1QB complement C1q B chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1QBprovided by HGNC
Official Full Name: complement C1q B chainprovided by HGNC
Primary source: HGNC:HGNC:1242
See related: Ensembl:ENSG00000173369 MIM:120570; AllianceGenome:HGNC:1242
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: C1QD2
Summary: This gene encodes the B-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
Expression: Broad expression in spleen (RPKM 482.2), lymph node (RPKM 181.6) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p36.12

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (22653236..22661637)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (22478246..22486577)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (22979729..22988130)

Chromosome 1 - NC_000001.11 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 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?

Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.
Title: Identifying C1QB, ITGAM, and ITGB2 as potential diagnostic candidate genes for diabetic nephropathy using bioinformatics analysis.
C1QA, C1QB, and GZMB are novel prognostic biomarkers of skin cutaneous melanoma relating tumor microenvironment.
Title: C1QA, C1QB, and GZMB are novel prognostic biomarkers of skin cutaneous melanoma relating tumor microenvironment.
Neuroinflammation and psychiatric disorders: Relevance of C1q, translocator protein (18 kDa) (TSPO), and neurosteroids.
Title: Neuroinflammation and psychiatric disorders: Relevance of C1q, translocator protein (18 kDa) (TSPO), and neurosteroids.
Activation of complement C1q and C3 in glomeruli might accelerate the progression of diabetic nephropathy: Evidence from transcriptomic data and renal histopathology.
Title: Activation of complement C1q and C3 in glomeruli might accelerate the progression of diabetic nephropathy: Evidence from transcriptomic data and renal histopathology.
C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.
Title: C1q-binding DSA and allograft outcomes in pediatric kidney transplant recipients.
Clinical and prognostic significance of C1q deposition in IgAN patients-a retrospective study.
Title: Clinical and prognostic significance of C1q deposition in IgAN patients-a retrospective study.
C1Q polymorphisms are associated with systemic lupus erythematosus.
Title: Investigation of C1-complex regions reveals new C1Q variants associated with protection from systemic lupus erythematosus, and affect its transcript abundance.
results suggested that four differentially expressed genes, Jun, Gal, Cd74, and C1qb, had the potential to serve as prognostic or predictive markers for neuropathic pain, suggesting a potential application in the improvement of prognostic tools and treatments.
Title: Jun, Gal, Cd74, and C1qb as potential indicator for neuropathic pain.
The C allele at the rs631090 locus of C1q, the G allele at 1525A/G site of TRAIL, and the G allele of Tim-1 at -1454G/A site are susceptibility variants associated with SLE. the frequency of the T allele at the rs631090 locus in the study group was lower than that in the controls, and the frequency of the C allele was higher in the study group than in the healthy donors.
Title: Association Between C1q, TRAIL, and Tim-1 Gene Polymorphisms and Systemic Lupus Erythematosus.
C1QB expression is significantly upregulated in human masticatory mucosa during wound healing
Title: Human gingiva transcriptome during wound healing.

Submit: New GeneRIF Correction See all GeneRIFs (31)

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
C1Q deficiency 2 MedGen: C5830422 OMIM: 620321 GeneReviews: Not available	Compare labs

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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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Fibronectin, which is present in submandibular saliva, binds to HIV-1 gp120/160 and enhances the interaction of C1q with gp120/160	PubMed
	env	Free C1q binds to HIV-1 gp120; digestion of the C1q stem portion with collagenase completely eliminates its binding to recombinant gp120, suggesting that the collagen-like stem region of C1q participates in the binding to gp120	PubMed
Envelope transmembrane glycoprotein gp41	env	The interaction between C1q and HIV-gp41 is dependent upon the presence of calcium; calcium can not be replaced by larger cations such as strontium, barium, lead or smaller ions such as magnesium and manganese	PubMed
	env	HIV-1 gp41 (amino acid residues 561-575, 591-605 and 601-620) binds to complement C1q and activates the C1 complex in a dose- and time-dependent manner	PubMed
	env	Three sites (amino acids 526-538, 590-613 and 625-655) of the cell-external part of HIV-1 gp41 bind both HIV-1 gp120 and C1q	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

RH70806 (e-PCR)
- UniSTS:15160

C1QB_68.2 (e-PCR)
- UniSTS:280468

RH78269 (e-PCR)
- UniSTS:12970

SHGC-74363 (e-PCR)
- UniSTS:29625

PMC115884P1 (e-PCR)
- UniSTS:270302

SHGC-74365 (e-PCR)
- UniSTS:35322

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in complement activation	TAS Traceable Author Statement more info	PubMed
involved_in complement activation, classical pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in complement activation, classical pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in synapse pruning	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
part_of collagen trimer	IEA Inferred from Electronic Annotation more info
located_in collagen-containing extracellular matrix	HDA more info	PubMed
part_of complement component C1 complex	NAS Non-traceable Author Statement more info	PubMed
part_of complement component C1q complex	IPI Inferred from Physical Interaction more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in postsynapse	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: complement C1q subcomponent subunit B

Names: complement C1q chain B; complement component 1, q subcomponent, B chain; complement component 1, q subcomponent, beta polypeptide; complement component C1q, B chain; complement subcomponent C1q chain B

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_007283.1 RefSeqGene

Range

5001..13348

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_23

mRNA and Protein(s)

NM_000491.5 → NP_000482.3 complement C1q subcomponent subunit B isoform 1 precursor

See identical proteins and their annotated locations for NP_000482.3

Status: REVIEWED

Description

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

Source sequence(s)

AL158086

UniProtKB/Swiss-Prot

P02746, Q5T959, Q96H17

UniProtKB/TrEMBL

A0A024RAB9, A0A3B0J0A0, A0A8Q3SI33

Conserved Domains (2) summary

smart00110
Location:115 → 250

C1Q; Complement component C1q domain

pfam01391
Location:33 → 86

Collagen; Collagen triple helix repeat (20 copies)
NM_001371184.3 → NP_001358113.2 complement C1q subcomponent subunit B isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes isoform 2

Source sequence(s)

AA838059, AI125081, BI489644, BQ711602, X03084

Consensus CDS

CCDS90878.1

UniProtKB/TrEMBL

A0A8Q3SI33, D6R934

Related

ENSP00000404606.2, ENST00000432749.6

Conserved Domains (2) summary

smart00110
Location:113 → 248

C1Q; Complement component C1q domain

pfam01391
Location:37 → 86

Collagen; Collagen triple helix repeat (20 copies)
NM_001378156.1 → NP_001365085.1 complement C1q subcomponent subunit B isoform 2 precursor

Status: REVIEWED

Source sequence(s)

AL158086

Consensus CDS

CCDS90878.1

UniProtKB/TrEMBL

A0A8Q3SI33, D6R934

Related

ENSP00000423689.1, ENST00000509305.6

Conserved Domains (2) summary

smart00110
Location:113 → 248

C1Q; Complement component C1q domain

pfam01391
Location:37 → 86

Collagen; Collagen triple helix repeat (20 copies)