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FAM20A FAM20A golgi associated secretory pathway pseudokinase [ Homo sapiens (human) ]

Gene ID: 54757, updated on 11-Jun-2021

Summary

Official Symbol
FAM20Aprovided by HGNC
Official Full Name
FAM20A golgi associated secretory pathway pseudokinaseprovided by HGNC
Primary source
HGNC:HGNC:23015
See related
Ensembl:ENSG00000108950 MIM:611062
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
AI1G; AIGFS; FP2747
Summary
This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
Expression
Broad expression in salivary gland (RPKM 7.2), liver (RPKM 6.1) and 23 other tissues See more
Orthologs
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Genomic context

See FAM20A in Genome Data Viewer
Location:
17q24.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (68530276..68601367, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (66531257..66597508, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene arylsulfatase G Neighboring gene tRNA-undetermined (NNN) 5-1 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha Neighboring gene microRNA 635 Neighboring gene WD repeat domain, phosphoinositide interacting 1 Neighboring gene uncharacterized LOC105371873 Neighboring gene long intergenic non-protein coding RNA 1482 Neighboring gene uncharacterized LOC105371877

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?

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • DKFZp434F2322

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in biomineral tissue development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in enamel mineralization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in enamel mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of protein phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
NOT involved_in protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in tooth eruption IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
colocalizes_with Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
colocalizes_with Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in extracellular exosome HDA PubMed 
located_in extracellular space IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
pseudokinase FAM20A
Names
family with sequence similarity 20, member A
protein FAM20A

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_029809.1 RefSeqGene

    Range
    4588..70839
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243746.2NP_001230675.1  pseudokinase FAM20A isoform b

    See identical proteins and their annotated locations for NP_001230675.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains an alternate exon at its 5' end and uses a downstream start codon, compared to variant 1. The encoded protein (isoform b) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AC079210, AK298071, AL133105, AY358197, BC036222
    UniProtKB/Swiss-Prot
    Q96MK3
    UniProtKB/TrEMBL
    B7Z4Y3, Q8IYA5
    Conserved Domains (1) summary
    cd10469
    Location:168384
    FAM20A_C; C-terminal putative kinase domain of FAM20A
  2. NM_017565.4NP_060035.2  pseudokinase FAM20A isoform a precursor

    See identical proteins and their annotated locations for NP_060035.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AC079210, AL133105, AY358197, BC036222, BC136686, CB530015, N64017
    Consensus CDS
    CCDS11679.1
    UniProtKB/Swiss-Prot
    Q96MK3
    UniProtKB/TrEMBL
    L8B8N7, Q8IYA5
    Related
    ENSP00000468308.1, ENST00000592554.2
    Conserved Domains (1) summary
    cd10469
    Location:306522
    FAM20A_C; C-terminal putative kinase domain of FAM20A

RNA

  1. NR_027751.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because there is uncertainty about the protein-coding capacity of the transcript.
    Source sequence(s)
    AC079210, AL133105, BC036222, CB530015, DB057818, N64017
    Related
    ENST00000226094.9

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    68530276..68601367 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721959.3XP_006722022.1  pseudokinase FAM20A isoform X1

    See identical proteins and their annotated locations for XP_006722022.1

    Conserved Domains (1) summary
    cd10469
    Location:168384
    FAM20A_C; C-terminal putative kinase domain of FAM20A
  2. XM_017024781.2XP_016880270.1  pseudokinase FAM20A isoform X2

  3. XM_011524918.3XP_011523220.1  pseudokinase FAM20A isoform X3

    Conserved Domains (1) summary
    cl05973
    Location:306370
    FAM20_C_like; C-terminal putative kinase domain of FAM20 (family with sequence similarity 20), Drosophila Four-jointed (Fj), and related proteins

RNA

  1. XR_002958041.1 RNA Sequence

  2. XR_001752544.2 RNA Sequence

  3. XR_934487.3 RNA Sequence

  4. XR_001752543.2 RNA Sequence

  5. XR_429905.2 RNA Sequence

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