CRLF1 cytokine receptor like factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CRLF1provided by HGNC
Official Full Name: cytokine receptor like factor 1provided by HGNC
Primary source: HGNC:HGNC:2364
See related: Ensembl:ENSG00000006016 MIM:604237; AllianceGenome:HGNC:2364
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: CLF; NR6; CISS; CISS1; CLF-1; zcytor5
Summary: This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]
Expression: Broad expression in placenta (RPKM 4.8), brain (RPKM 3.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.11

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (18593237..18606799, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (18728303..18741874, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (18704047..18717609, complement)

Chromosome 19 - NC_000019.10 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?

Identification and validation of CRLF1 and NRG1 as immune-related signatures in hypertrophic scar.
Title: Identification and validation of CRLF1 and NRG1 as immune-related signatures in hypertrophic scar.
Long non-coding RNA MIR22HG suppresses the chondrogenic differentiation of human adipose-derived stem cells by interacting with CTCF to upregulate CRLF1.
Title: Long non-coding RNA MIR22HG suppresses the chondrogenic differentiation of human adipose-derived stem cells by interacting with CTCF to upregulate CRLF1.
Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.
Title: Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
Title: Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.
CRLF1 and CLCF1 in Development, Health and Disease.
Title: CRLF1 and CLCF1 in Development, Health and Disease.
Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.
Title: Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.
CRLF1-MYH9 Interaction Regulates Proliferation and Metastasis of Papillary Thyroid Carcinoma Through the ERK/ETV4 Axis.
Title: CRLF1-MYH9 Interaction Regulates Proliferation and Metastasis of Papillary Thyroid Carcinoma Through the ERK/ETV4 Axis.
Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
Title: Crisponi/cold-induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts.
These results suggest that CRLF1 enhances cell proliferation and metastasis in PTC and thus may therefore be a potential therapeutic target for papillary thyroid carcinoma .
Title: CRLF1 promotes malignant phenotypes of papillary thyroid carcinoma by activating the MAPK/ERK and PI3K/AKT pathways.
From these results we conclude that one should consider a CRLF1-related disorder in early onset achalasia even if other Crisponi or cold-induced sweating syndrome type 1 (CS/CISS1) related symptoms are missing.
Title: Mutations in CRLF1 cause familial achalasia.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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
Cold-induced sweating syndrome 1 MedGen: C1848947 OMIM: 272430 GeneReviews: Cold-Induced Sweating Syndrome including Crisponi Syndrome	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
Tat	tat	Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of cytokine receptor-like factor 1 (CRLF1) in U-937 macrophages	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

STS-R40163 (e-PCR)
- UniSTS:40710

CRLF1_2978 (e-PCR)
- UniSTS:462122

A002Y03 (e-PCR)
- UniSTS:77153

D19S650E (e-PCR)
- UniSTS:28295

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to ciliary neurotrophic factor receptor binding	IDA Inferred from Direct Assay more info	PubMed
contributes_to cytokine activity	IDA Inferred from Direct Assay more info	PubMed
enables cytokine binding	IBA Inferred from Biological aspect of Ancestor more info
enables cytokine binding	IPI Inferred from Physical Interaction more info	PubMed
enables cytokine receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cytokine-mediated signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of tyrosine phosphorylation of STAT protein	IDA Inferred from Direct Assay more info	PubMed
involved_in ureteric bud development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of CRLF-CLCF1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of CRLF-CLCF1 complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
is_active_in external side of plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	TAS Traceable Author Statement more info	PubMed
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytokine receptor-like factor 1

Names: class I cytokine receptor; cytokine type 1 receptor CRLP-1; cytokine-like factor 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.

Genomic

NG_013370.1 RefSeqGene

Range

5052..18614

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004750.5 → NP_004741.1 cytokine receptor-like factor 1 precursor

See identical proteins and their annotated locations for NP_004741.1

Status: REVIEWED

Source sequence(s)

AF073515, AY358291

Consensus CDS

CCDS32962.1

UniProtKB/Swiss-Prot

O75462, Q9UHH5

UniProtKB/TrEMBL

A0A804HI12

Related

ENSP00000376188.2, ENST00000392386.8

Conserved Domains (3) summary

cd00063
Location:236 → 338

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam06328
Location:41 → 104

Lep_receptor_Ig; Ig-like C2-type domain

cl21522
Location:133 → 228

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...