C1RL complement C1r subcomponent like [Homo sapiens (human)] - Gene

Summary

Official Symbol: C1RLprovided by HGNC
Official Full Name: complement C1r subcomponent likeprovided by HGNC
Primary source: HGNC:HGNC:21265
See related: Ensembl:ENSG00000139178 MIM:608974; AllianceGenome:HGNC:21265
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: C1RL1; C1RLP; CLSPa; C1r-LP
Summary: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in zymogen activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver (RPKM 37.4), adrenal (RPKM 16.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (7094554..7109214, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (7107640..7122399, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (7247150..7261810, complement)

Chromosome 12 - NC_000012.12 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?

Immunological and clinicopathological characteristics of C1RL in 2120 glioma patients.
Title: Immunological and clinicopathological characteristics of C1RL in 2120 glioma patients.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.
CLSPa itself possesses little protease activity, but it plays an inhibitory role in other active protease catalytic processes
Title: A novel human dendritic cell-derived C1r-like serine protease analog inhibits complement-mediated cytotoxicity.
coexpression of the proform of Hp (proHp) and C1r-LP effected cleavage of proHp in the endoplasmic reticulum
Title: Prohaptoglobin is proteolytically cleaved in the endoplasmic reticulum by the complement C1r-like protein.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Microarray analysis indicates HIV-1 Tat-induced upregulation of complement component 1, r subcomponent-like (C1RL) in primary human brain microvascular endothelial cells	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

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D1S1423 (e-PCR)
- UniSTS:149619

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables serine-type endopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in complement activation, classical pathway	IEA Inferred from Electronic Annotation more info
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in zymogen activation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in blood microparticle	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: complement C1r subcomponent-like protein

Names: C1r-like protein; C1r-like serine protease analog protein; complement C1r-like proteinase; complement component 1, r subcomponent-like

NP_001284569.1

EC 3.4.21.41

NP_001284571.1

EC 3.4.21.41

NP_001284572.1

EC 3.4.21.41

NP_057630.2

EC 3.4.21.41

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_001297640.2 → NP_001284569.1 complement C1r subcomponent-like protein isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC233309, AK222802, DR004214, HY062376

UniProtKB/TrEMBL

Q9H804

Conserved Domains (3) summary

smart00020
Location:205 → 437

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:40 → 162

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00190
Location:205 → 438

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
NM_001297642.2 → NP_001284571.1 complement C1r subcomponent-like protein isoform 3 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 3' UTR, and uses an alternate splice site in the 5' coding region resulting in a frameshift, compared to variant 1. The encoded isoform (3) is shorter, and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AC233309, AK314299

Consensus CDS

CCDS73431.1

UniProtKB/TrEMBL

F5GWF3

Related

ENSP00000441885.1, ENST00000544702.5

Conserved Domains (1) summary

cd00041
Location:40 → 162

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
NM_001297643.2 → NP_001284572.1 complement C1r subcomponent-like protein isoform 4 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (4) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (4) is shorter, and has a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AW450562, BC062428, HY062376

Consensus CDS

CCDS76517.1

UniProtKB/TrEMBL

F5H7C8, Q6P672

Related

ENSP00000442611.1, ENST00000545337.1

Conserved Domains (1) summary

cd00041
Location:40 → 162

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.
NM_016546.4 → NP_057630.2 complement C1r subcomponent-like protein isoform 1 precursor

See identical proteins and their annotated locations for NP_057630.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC233309, AK222802, HY062376

Consensus CDS

CCDS8573.1

UniProtKB/Swiss-Prot

Q53GX9, Q9NZP8

UniProtKB/TrEMBL

Q9H804

Related

ENSP00000266542.4, ENST00000266542.9

Conserved Domains (3) summary

smart00020
Location:247 → 479

Tryp_SPc; Trypsin-like serine protease

cd00041
Location:40 → 162

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00190
Location:247 → 480

Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...