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

Gene ID: 84985, updated on 16-Oct-2021

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
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
Expression
Biased expression in esophagus (RPKM 21.0), skin (RPKM 1.8) and 1 other tissue See more
Orthologs
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Genomic context

See FAM83A in Genome Data Viewer
Location:
8q24.13
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (123179047..123210079)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (124191287..124222319)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 31 Neighboring gene tRNA-Met (anticodon CAT) 1-1 Neighboring gene Sharpr-MPRA regulatory region 4427 Neighboring gene FAM83A antisense RNA 1 Neighboring gene ZHX1-C8orf76 readthrough Neighboring gene microRNA 4663 Neighboring gene chromosome 8 open reading frame 76 Neighboring gene ubiquitin A-52 residue ribosomal protein fusion product 1 pseudogene 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC14128

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
PubMed 
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
PubMed 
involved_in epidermal growth factor receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

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)

  1. NM_001288587.3NP_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:24242
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
  2. NM_001321630.2NP_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:24257
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
  3. NM_001394396.1NP_001381325.1  protein FAM83A isoform a

    Status: VALIDATED

    Source sequence(s)
    AC068228
    Conserved Domains (1) summary
    cd09181
    Location:24298
    PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A
  4. NM_032899.6NP_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
    Q86UY5
    Related
    ENSP00000428876.1, ENST00000518448.5
    Conserved Domains (1) summary
    cd09181
    Location:24298
    PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A
  5. NM_207006.3NP_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:24298
    PLDc_FAM83A_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83A

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    123179047..123210079
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005251087.3XP_005251144.1  protein FAM83A isoform X1

    Conserved Domains (1) summary
    cl15239
    Location:24242
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
  2. XM_011517338.2XP_011515640.1  protein FAM83A isoform X2

    Conserved Domains (1) summary
    cl15239
    Location:24257
    PLDc_SF; Catalytic domain of phospholipase D superfamily proteins
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