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

    Gene ID: 54757, updated on 6-Jun-2024

    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; AllianceGenome:HGNC:23015
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FAM20A in Genome Data Viewer
    Location:
    17q24.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (68535116..68601367, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (69411970..69478232, complement)
    105.20220307 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 ATAC-STARR-seq lymphoblastoid active region 12648 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409262-66409920 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:66409921-66410577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:66432181-66432681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8900 Neighboring gene protein kinase cAMP-dependent type I regulatory subunit alpha Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66453793-66454079 Neighboring gene microRNA 635 Neighboring gene WD repeat domain, phosphoinositide interacting 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8902 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:66494688-66494871 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66508045-66508618 Neighboring gene Sharpr-MPRA regulatory region 15560 Neighboring gene Sharpr-MPRA regulatory region 13674 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66627729-66628228 Neighboring gene long intergenic non-protein coding RNA 1482 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66682485-66682986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:66682987-66683486 Neighboring gene uncharacterized LOC124904049

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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
     
    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
     
    NOT involved_in protein phosphorylation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    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)

    NEW Try the new Transcript table

    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/TrEMBL
      B7Z4Y3
      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
      B2RN47, B2RN49, Q96MK3, Q9UF95
      UniProtKB/TrEMBL
      L8B8N7
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      68535116..68601367 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006721959.4XP_006722022.1  pseudokinase FAM20A isoform X1

      See identical proteins and their annotated locations for XP_006722022.1

      UniProtKB/TrEMBL
      B7Z4Y3
      Conserved Domains (1) summary
      cd10469
      Location:168384
      FAM20A_C; C-terminal putative kinase domain of FAM20A
    2. XM_047436319.1XP_047292275.1  pseudokinase FAM20A isoform X3

    3. XM_017024781.3XP_016880270.1  pseudokinase FAM20A isoform X2

      Conserved Domains (1) summary
      cl05973
      Location:306373
      FAM20_C_like; C-terminal putative kinase domain of FAM20 (family with sequence similarity 20), Drosophila Four-jointed (Fj), and related proteins
    4. XM_011524918.4XP_011523220.1  pseudokinase FAM20A isoform X4

      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_002958041.2 RNA Sequence

    2. XR_934487.4 RNA Sequence

    3. XR_001752543.3 RNA Sequence

    4. XR_429905.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      69411970..69478232 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054316546.1XP_054172521.1  pseudokinase FAM20A isoform X1

      UniProtKB/TrEMBL
      B7Z4Y3
    2. XM_054316548.1XP_054172523.1  pseudokinase FAM20A isoform X3

    3. XM_054316547.1XP_054172522.1  pseudokinase FAM20A isoform X2

    4. XM_054316549.1XP_054172524.1  pseudokinase FAM20A isoform X4

    RNA

    1. XR_008484843.1 RNA Sequence

    2. XR_008484844.1 RNA Sequence

    3. XR_008484845.1 RNA Sequence

    4. XR_008484846.1 RNA Sequence