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FAM83H family with sequence similarity 83 member H [ Homo sapiens (human) ]

Gene ID: 286077, updated on 25-Jan-2022

Summary

Official Symbol
FAM83Hprovided by HGNC
Official Full Name
family with sequence similarity 83 member Hprovided by HGNC
Primary source
HGNC:HGNC:24797
See related
Ensembl:ENSG00000180921 MIM:611927; AllianceGenome:HGNC:24797
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
AI3; AI3A
Summary
The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010]
Expression
Broad expression in skin (RPKM 7.7), esophagus (RPKM 6.0) and 20 other tissues See more
Orthologs
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Genomic context

See FAM83H in Genome Data Viewer
Location:
8q24.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (143723933..143733779, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144806103..144815949, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928160 Neighboring gene coiled-coil domain containing 166 Neighboring gene mitogen-activated protein kinase 15 Neighboring gene Sharpr-MPRA regulatory region 4007 Neighboring gene microRNA 4664 Neighboring gene IQ motif and ankyrin repeat containing 1 Neighboring gene SREBF pathway regulator in golgi 1 pseudogene Neighboring gene scribble planar cell polarity protein Neighboring gene microRNA 937

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46072

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables keratin filament binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables keratin filament 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 IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in intermediate filament cytoskeleton organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in intermediate filament cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein localization to cytoskeleton IMP
Inferred from Mutant Phenotype
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
 
colocalizes_with keratin filament IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with keratin filament IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein FAM83H
Names
FAM83H variant 1
FAM83H variant 2
truncated FAM83H

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

  1. NG_016652.1 RefSeqGene

    Range
    5001..14802
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_198488.5NP_940890.4  protein FAM83H

    Status: REVIEWED

    Source sequence(s)
    AC105219
    Consensus CDS
    CCDS6410.2
    Related
    ENSP00000373565.3, ENST00000388913.4
    Conserved Domains (2) summary
    cd09188
    Location:17281
    PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
    pfam15251
    Location:8951034
    DUF4588; Domain of unknown function (DUF4588)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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
    143723933..143733779 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    200980..210826 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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