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

Gene ID: 286077, updated on 13-Jan-2015
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; HPRD:13521; MIM:611927; Vega:OTTHUMG00000133559
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
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]
Orthologs
See FAM83H in MapViewer
Location:
8q24.3
Exon count:
7
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (143723933..143740547, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (144806103..144822710, 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 FAM83H antisense RNA 1 (head to head) Neighboring gene microRNA 4664 Neighboring gene UPF0454 protein C12orf49-like Neighboring gene putative IQ motif and ankyrin repeat domain-containing protein LOC642574-like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ46072

Gene Ontology Provided by GOA

Process Evidence Code Pubs
biomineral tissue development IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
protein FAM83H
Names
protein FAM83H
FAM83H variant 1

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 

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

mRNA and Protein(s)

  1. NM_198488.3NP_940890.3  protein FAM83H

    Status: REVIEWED

    Source sequence(s)
    AC105219, AF370424, BC033256, CN272849
    Consensus CDS
    CCDS6410.2
    UniProtKB/Swiss-Prot
    Q6ZRV2
    UniProtKB/TrEMBL
    Q71RB4
    Related
    ENSP00000373565, OTTHUMP00000164909, ENST00000388913, OTTHUMT00000257632
    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
    pfam13091
    Location:141278
    PLDc_2; PLD-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    143723933..143740547
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250890.2XP_005250947.1  

    See proteins identical to XP_005250947.1

    UniProtKB/Swiss-Prot
    Q6ZRV2
    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
    pfam13091
    Location:141278
    PLDc_2; PLD-like domain
  2. XM_005250887.1XP_005250944.1  

    See proteins identical to XP_005250944.1

    Conserved Domains (2) summary
    cd09188
    Location:36300
    PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
    pfam13091
    Location:160297
    PLDc_2; PLD-like domain
  3. XM_005250888.1XP_005250945.1  

    See proteins identical to XP_005250945.1

    Conserved Domains (2) summary
    cd09188
    Location:23287
    PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
    pfam13091
    Location:147284
    PLDc_2; PLD-like domain
  4. XM_005250889.1XP_005250946.1  

    See proteins identical to XP_005250946.1

    UniProtKB/Swiss-Prot
    Q6ZRV2
    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
    pfam13091
    Location:141278
    PLDc_2; PLD-like domain

Reference GRCh38 ALT_REF_LOCI_1

Genomic

  1. NT_187571.1 

    Range
    200980..217594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725090.1XP_006725153.1  

    See proteins identical to XP_006725153.1

    UniProtKB/Swiss-Prot
    Q6ZRV2
    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
    pfam13091
    Location:141278
    PLDc_2; PLD-like domain
  2. XM_006725087.1XP_006725150.1  

    See proteins identical to XP_006725150.1

    Conserved Domains (2) summary
    cd09188
    Location:36300
    PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
    pfam13091
    Location:160297
    PLDc_2; PLD-like domain
  3. XM_006725088.1XP_006725151.1  

    See proteins identical to XP_006725151.1

    Conserved Domains (2) summary
    cd09188
    Location:23287
    PLDc_FAM83H_N; N-terminal phospholipase D-like domain of the uncharacterized protein, Family with sequence similarity 83H
    pfam13091
    Location:147284
    PLDc_2; PLD-like domain
  4. XM_006725089.1XP_006725152.1  

    See proteins identical to XP_006725152.1

    UniProtKB/Swiss-Prot
    Q6ZRV2
    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
    pfam13091
    Location:141278
    PLDc_2; PLD-like domain

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    144846146..144855947
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    140058912..140068831
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)