FAM83F family with sequence similarity 83 member F [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM83Fprovided by HGNC
Official Full Name: family with sequence similarity 83 member Fprovided by HGNC
Primary source: HGNC:HGNC:25148
See related: Ensembl:ENSG00000133477 AllianceGenome:HGNC:25148
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
Summary: Predicted to enable protein kinase binding activity. Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 11.4), skin (RPKM 5.5) and 12 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (39994954..40043534)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (40465916..40515097)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (40390958..40439538)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Circ_0000735 enhances the proliferation, metastasis and glycolysis of non-small cell lung cancer by regulating the miR-635/FAM83F axis.
Title: Circ_0000735 enhances the proliferation, metastasis and glycolysis of non-small cell lung cancer by regulating the miR-635/FAM83F axis.
FAM83F regulates canonical Wnt signalling through an interaction with CK1alpha.
Title: FAM83F regulates canonical Wnt signalling through an interaction with CK1α.
MiR-1827 functions as a tumor suppressor in lung adenocarcinoma by targeting MYC and FAM83F.
Title: MiR-1827 functions as a tumor suppressor in lung adenocarcinoma by targeting MYC and FAM83F.
Fam83F induces p53 stabilisation and promotes its activity.
Title: Fam83F induces p53 stabilisation and promotes its activity.
Results show that FAM83F expression was distinctly upregulated in non-small cell lung cancer (NSCLC) tissues. MiR-940 inhibited the proliferation of cancer cells by targeting FAM83F and further restrained the progression of NSCLC.
Title: MiR-940 inhibits the progression of NSCLC by targeting FAM83F.
Low MiR-650 expression in glioma cells promotes tumor cell proliferation by up-regulating the expression of FAM83F.
Title: MiR-650 inhibits the progression of glioma by targeting FAM83F.
Observational study of gene-disease association. (HuGE Navigator)
Title: Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D22S630 (e-PCR)
- UniSTS:26440

AL021673 (e-PCR)
- UniSTS:70520

D22S1197 (e-PCR)
- UniSTS:5556

D22S299 (e-PCR)
- UniSTS:69846

D22S302 (e-PCR)
- UniSTS:57059

Homology

Homologs of the FAM83F gene: The FAM83F gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 325 organisms have orthologs with human gene FAM83F
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Process	Evidence Code	Pubs
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: protein FAM83F

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_138435.4 → NP_612444.2 protein FAM83F

See identical proteins and their annotated locations for NP_612444.2

Status: VALIDATED

Source sequence(s)

KF457465, Z82206, Z83847

Consensus CDS

CCDS14000.2

UniProtKB/Swiss-Prot

Q8NEG4, Q96FD6

Related

ENSP00000330432.5, ENST00000333407.11

Conserved Domains (2) summary

cd09186
Location:20 → 295

PLDc_FAM83F_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83F

pfam13091
Location:154 → 291

PLDc_2; PLD-like domain