FAM83A family with sequence similarity 83 member A [Homo sapiens (human)] - Gene

Summary

Official Symbol: FAM83Aprovided by HGNC
Official Full Name: family with sequence similarity 83 member Aprovided by HGNC
Primary source: HGNC:HGNC:28210
See related: Ensembl:ENSG00000147689 MIM:621022; AllianceGenome:HGNC:28210
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: BJ-TSA-9
Summary: Enables identical protein binding activity; phosphatidylinositol 3-kinase regulatory subunit binding activity; and protein kinase binding activity. Involved in cell population proliferation and epidermal growth factor receptor signaling pathway. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in esophagus (RPKM 21.0), skin (RPKM 1.8) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.13

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (123179047..123210079)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (124310090..124341215)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (124191287..124222319)

Chromosome 8 - NC_000008.11 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
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?

Promotion of stem cell-like phenotype of lung adenocarcinoma by FAM83A via stabilization of ErbB2.
Title: Promotion of stem cell-like phenotype of lung adenocarcinoma by FAM83A via stabilization of ErbB2.
Sense and anti-sense: Role of FAM83A and FAM83A-AS1 in Wnt, EGFR, PI3K, EMT pathways and tumor progression.
Title: Sense and anti-sense: Role of FAM83A and FAM83A-AS1 in Wnt, EGFR, PI3K, EMT pathways and tumor progression.
High-risk histological subtype-related FAM83A hijacked FOXM1 transcriptional regulation to promote malignant progression in lung adenocarcinoma.
Title: High-risk histological subtype-related FAM83A hijacked FOXM1 transcriptional regulation to promote malignant progression in lung adenocarcinoma.
ncRNA-mediated upregulation of FAM83A is associated with poor prognosis and immune infiltration in pancreatic cancer.
Title: ncRNA-mediated upregulation of FAM83A is associated with poor prognosis and immune infiltration in pancreatic cancer.
B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with beta-catenin.
Title: B-lymphoid tyrosine kinase-mediated FAM83A phosphorylation elevates pancreatic tumorigenesis through interacting with β-catenin.
Long non-coding RNA FEZF1-AS1 promotes rectal cancer progression by competitively binding miR-632 with FAM83A.
Title: Long non-coding RNA FEZF1-AS1 promotes rectal cancer progression by competitively binding miR-632 with FAM83A.
LncRNA FAM83A-AS1 facilitates tumor proliferation and the migration via the HIF-1alpha/ glycolysis axis in lung adenocarcinoma.
Title: LncRNA FAM83A-AS1 facilitates tumor proliferation and the migration via the HIF-1α/ glycolysis axis in lung adenocarcinoma.
FAM83A has a pro-tumor function in ovarian cancer by affecting the Akt/Wnt/beta-catenin pathway.
Title: FAM83A has a pro-tumor function in ovarian cancer by affecting the Akt/Wnt/β-catenin pathway.
Signatures of Multi-Omics Reveal Distinct Tumor Immune Microenvironment Contributing to Immunotherapy in Lung Adenocarcinoma.
Title: Signatures of Multi-Omics Reveal Distinct Tumor Immune Microenvironment Contributing to Immunotherapy in Lung Adenocarcinoma.
LncRNA FAM83A-AS1 promotes lung adenocarcinoma progression by enhancing the pre-mRNA stability of FAM83A.
Title: LncRNA FAM83A-AS1 promotes lung adenocarcinoma progression by enhancing the pre-mRNA stability of FAM83A.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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

EBI GWAS Catalog

Description
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH65348 (e-PCR)
- UniSTS:55809

D8S1160 (e-PCR)
- UniSTS:42036

D8S2282 (e-PCR)
- UniSTS:473910

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-149155 (e-PCR)
- UniSTS:176835

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylinositol 3-kinase regulatory subunit binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein kinase binding	IDA Inferred from Direct Assay more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: protein FAM83A

Names: tumor antigen BJ-TSA-9; tumor-specific gene expressed in prostate protein

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_001288587.3 → NP_001275516.1 protein FAM83A isoform c

See identical proteins and their annotated locations for NP_001275516.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR, lacks an alternate in-frame exon in the 5' coding region and uses an alternate 3' exon structure, compared to variant 1. It encodes isoform c, which is shorter and has a distinct C-terminus, compared to isoform a.

Source sequence(s)

AK095301, BC007828, BC052300, BX101053

Consensus CDS

CCDS75784.1

UniProtKB/Swiss-Prot

Q86UY5

Related

ENSP00000427979.1, ENST00000522648.5

Conserved Domains (1) summary

cl15239
Location:24 → 242

PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
NM_001321630.2 → NP_001308559.1 protein FAM83A isoform d

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and contains an alternate 3' terminal exon, thereby differing in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (d) has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AA838226, AC068228, AK095301

Conserved Domains (1) summary

cl15239
Location:24 → 257

PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
NM_001394396.1 → NP_001381325.1 protein FAM83A isoform a

Status: VALIDATED

Source sequence(s)

AC068228

Consensus CDS

CCDS6340.1

UniProtKB/Swiss-Prot

Q71HL2, Q86UY5, Q8N7I1, Q96I47

Related

ENSP00000509471.1, ENST00000690554.1

Conserved Domains (1) summary

cd09181
Location:24 → 298

PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A
NM_032899.6 → NP_116288.2 protein FAM83A isoform a

See identical proteins and their annotated locations for NP_116288.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).

Source sequence(s)

AC068228, BX101053, DA454025, DA764899, DQ280323

Consensus CDS

CCDS6340.1

UniProtKB/Swiss-Prot

Q71HL2, Q86UY5, Q8N7I1, Q96I47

Related

ENSP00000428876.1, ENST00000518448.5

Conserved Domains (1) summary

cd09181
Location:24 → 298

PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A
NM_207006.3 → NP_996889.1 protein FAM83A isoform b

See identical proteins and their annotated locations for NP_996889.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate 3' exon structure resulting in different 3' UTR and 3' coding regions, compared to variant 1. It encodes isoform b, which has a shorter and distinct C-terminus, compared to isoform a.

Source sequence(s)

AC068228, AF497803, AI677966, AK095301, DA764899

Consensus CDS

CCDS6339.1

UniProtKB/Swiss-Prot

Q86UY5

Related

ENSP00000445218.1, ENST00000536633.2

Conserved Domains (1) summary

cd09181
Location:24 → 298

PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

123179047..123210079

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005251087.4 → XP_005251144.1 protein FAM83A isoform X1

Conserved Domains (1) summary

cl15239
Location:24 → 242

PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
XM_011517338.3 → XP_011515640.1 protein FAM83A isoform X2

Conserved Domains (1) summary

cl15239
Location:24 → 257

PLDc_SF; Catalytic domain of phospholipase D superfamily proteins