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CREBRF CREB3 regulatory factor [ Homo sapiens (human) ]

Gene ID: 153222, updated on 13-Dec-2020

Summary

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Official Symbol
CREBRFprovided by HGNC
Official Full Name
CREB3 regulatory factorprovided by HGNC
Primary source
HGNC:HGNC:24050
See related
Ensembl:ENSG00000164463 MIM:617109
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
LRF; C5orf41
Expression
Ubiquitous expression in thyroid (RPKM 12.2), bone marrow (RPKM 8.3) and 25 other tissues See more
Orthologs
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Genomic context

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See CREBRF in Genome Data Viewer
Location:
5q35.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (173056349..173139284)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (172483355..172566291)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5956 Neighboring gene ATPase H+ transporting V0 subunit e1 Neighboring gene small nucleolar RNA, H/ACA box 74B Neighboring gene cell division cycle 42 pseudogene 5 Neighboring gene BCL2 interacting protein 1 Neighboring gene ribosomal protein L7a pseudogene 33

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan. Hanson RL, et al. Diabetologia, 2019 Sep. PMID 31280340, Free PMC Article
  2. Association study of CREBRF missense variant (rs373863828:G > A; p.Arg457Gln) with levels of serum lipid profile in the Pacific populations. Ohashi J, et al. Ann Hum Biol, 2018 May. PMID 29877158
  3. Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand. Krishnan M, et al. Diabetologia, 2018 Jul. PMID 29721634, Free PMC Article
  4. Widespread prevalence of a CREBRF variant amongst Māori and Pacific children is associated with weight and height in early childhood. Berry SD, et al. Int J Obes (Lond), 2018 Apr. PMID 28928463
  5. A missense variant, rs373863828-A (p.Arg457Gln), of CREBRF and body mass index in Oceanic populations. Naka I, et al. J Hum Genet, 2017 Sep. PMID 28405013

See all (22) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CREBRF G allele (rs12513649) and A allele (rs373863828)are associated with higher BMI and lower risk of diabetes in Pacific Islander (Guam and Saipan) populations.
    Title: Association of CREBRF variants with obesity and diabetes in Pacific Islanders from Guam and Saipan.
  2. Studied CREBRF genetic variants in association to height and weight in young children; found that the rs373863828 variant was significantly associated with growth at 4 years of age; also found the variants to be prevalent in other Pacific populations, including Maori.
    Title: Widespread prevalence of a CREBRF variant amongst Māori and Pacific children is associated with weight and height in early childhood.
  3. The presence of each additional CREBRF rs373863828 A allele is associated with increased BMI yet reduced odds of type 2 diabetes in adults of Maori and Pacific (Polynesian) ancestry living in Aotearoa/New Zealand.
    Title: Discordant association of the CREBRF rs373863828 A allele with increased BMI and protection from type 2 diabetes in Māori and Pacific (Polynesian) people living in Aotearoa/New Zealand.
  4. We found that CREBRF and TRIM2 mRNA were significantly upregulated by rHDL, particularly in response to its phospholipid component 1-palmitoyl-2-linoleoyl-phosphatidylcholine, however, protein expression was not significantly altered.
    Title: Exploring the Roles of <i>CREBRF</i> and <i>TRIM2</i> in the Regulation of Angiogenesis by High-Density Lipoproteins.
  5. The rs373863828-A allele (a missense variant of the CREBRF gene) may not directly affect the level of serum HDL-cholesterol independent of BMI.
    Title: Association study of CREBRF missense variant (rs373863828:G &gt; A; p.Arg457Gln) with levels of serum lipid profile in the Pacific populations.
  6. CREBRF promotes the proliferation of human gastric cancer cells via the AKT signaling pathway.
    Title: CREBRF promotes the proliferation of human gastric cancer cells via the AKT signaling pathway.
  7. The rs373863828-A allele was not found in both AN-speaking and non-AN-speaking Melanesians living in Papua New Guinea. Our results suggest that rs373863828-A of CREBRF, a promising thrifty variant, arose in recent ancestors of AN-speaking Polynesians.
    Title: A missense variant, rs373863828-A (p.Arg457Gln), of CREBRF and body mass index in Oceanic populations.
  8. Missense Mutation in CREBRF gene is associated with obesity.
    Title: A thrifty variant in CREBRF strongly influences body mass index in Samoans.
  9. Findings provide new insight into the molecular mechanisms underlying hypoxia-induced glioblastoma cell autophagy and indicate that the hypoxia/CREBRF/CREB3/ATG5 pathway plays a central role in malignant glioma progression.
    Title: CREBRF is a potent tumor suppressor of glioblastoma by blocking hypoxia-induced autophagy via the CREB3/ATG5 pathway.
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)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp313F2319, DKFZp686G2059

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
  
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
  
nucleoplasm TAS
Traceable Author Statement
more info
  
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

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Preferred Names
CREB3 regulatory factor
Names
UPF0474 protein C5orf41
adult retina protein
luman recruitment factor
luman-recruiting factor
luman/CREB3 recruitment factor

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)

  1. NM_001168393.2 → NP_001161865.1  CREB3 regulatory factor isoform 2

    See identical proteins and their annotated locations for NP_001161865.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Both variant 2 and variant 3 encode the same isoform (2).
    Source sequence(s)
    BX647768
    Consensus CDS
    CCDS54948.1
    UniProtKB/Swiss-Prot
    Q8IUR6
    Related
    ENSP00000431107.1, ENST00000522692.5

  2. NM_001168394.2 → NP_001161866.1  CREB3 regulatory factor isoform 2

    See identical proteins and their annotated locations for NP_001161866.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and coding region, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 1. Both variant 2 and variant 3 encode the same isoform (2).
    Source sequence(s)
    AY174896, BX647768
    Consensus CDS
    CCDS54948.1
    UniProtKB/Swiss-Prot
    Q8IUR6
    Related
    ENSP00000428290.1, ENST00000520420.5

  3. NM_153607.3 → NP_705835.2  CREB3 regulatory factor isoform 1

    See identical proteins and their annotated locations for NP_705835.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008378, AY139008, BX647768
    Consensus CDS
    CCDS34293.1
    UniProtKB/Swiss-Prot
    Q8IUR6
    Related
    ENSP00000296953.2, ENST00000296953.6
    Conserved Domains (1) summary
    cd14809
    Location:525 → 563
    bZIP_AUREO-like; Basic leucine zipper (bZIP) domain of blue light (BL) receptor aureochrome (AUREO) and similar bZIP domains

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    173056349..173139284
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005265821.3 → XP_005265878.1  CREB3 regulatory factor isoform X2

    See identical proteins and their annotated locations for XP_005265878.1

    Conserved Domains (1) summary
    cd14809
    Location:517 → 555
    bZIP_AUREO-like; Basic leucine zipper (bZIP) domain of blue light (BL) receptor aureochrome (AUREO) and similar bZIP domains

  2. XM_011534442.1 → XP_011532744.1  CREB3 regulatory factor isoform X2

    See identical proteins and their annotated locations for XP_011532744.1

    Conserved Domains (1) summary
    cd14809
    Location:517 → 555
    bZIP_AUREO-like; Basic leucine zipper (bZIP) domain of blue light (BL) receptor aureochrome (AUREO) and similar bZIP domains

  3. XM_006714822.4 → XP_006714885.1  CREB3 regulatory factor isoform X1

    See identical proteins and their annotated locations for XP_006714885.1

    UniProtKB/Swiss-Prot
    Q8IUR6
    Conserved Domains (1) summary
    cd14809
    Location:525 → 563
    bZIP_AUREO-like; Basic leucine zipper (bZIP) domain of blue light (BL) receptor aureochrome (AUREO) and similar bZIP domains
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUR6.2 GenPept UniProtKB/Swiss-Prot:Q8IUR6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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