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    FAM124A family with sequence similarity 124 member A [ Homo sapiens (human) ]

    Gene ID: 220108, updated on 13-Feb-2019

    Summary

    Official Symbol
    FAM124Aprovided by HGNC
    Official Full Name
    family with sequence similarity 124 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:26413
    See related
    Ensembl:ENSG00000150510
    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
    Expression
    Broad expression in brain (RPKM 3.5), spleen (RPKM 3.2) and 19 other tissues See more
    Orthologs

    Genomic context

    See FAM124A in Genome Data Viewer
    Location:
    13q14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (51222334..51284241)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51796470..51858377)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene chromosome 13 open reading frame 42 Neighboring gene ribosomal protein L5 pseudogene 31 Neighboring gene uncharacterized LOC107984554 Neighboring gene PRELI domain containing 3B pseudogene 2 Neighboring gene serpin family E member 3 Neighboring gene microRNA 5693 Neighboring gene integrator complex subunit 6

    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

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ30707, FLJ32081

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 

    General protein information

    Preferred Names
    protein FAM124A
    Names
    family with sequence similarity 124A

    NCBI Reference Sequences (RefSeq)

    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_001242312.1NP_001229241.1  protein FAM124A isoform 2

      See identical proteins and their annotated locations for NP_001229241.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the coding sequence, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1.
      Source sequence(s)
      BC051771, BG771560, BM931534, BX109426, DB549067
      Consensus CDS
      CCDS55900.1
      UniProtKB/Swiss-Prot
      Q86V42
      Related
      ENSP00000324625.7, ENST00000322475.12
      Conserved Domains (1) summary
      pfam15067
      Location:47278
      FAM124; FAM124 family
    2. NM_001330522.1NP_001317451.1  protein FAM124A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL157817, BC034497, R44193
      Consensus CDS
      CCDS81767.1
      UniProtKB/Swiss-Prot
      Q86V42
      Related
      ENSP00000481212.1, ENST00000615498.4
      Conserved Domains (1) summary
      pfam15067
      Location:47278
      FAM124; FAM124 family
    3. NM_145019.3NP_659456.3  protein FAM124A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK096364, BC051771, BG771560, BM931534, BX109426, DB549067
      Consensus CDS
      CCDS9427.1
      UniProtKB/Swiss-Prot
      Q86V42
      Related
      ENSP00000280057.6, ENST00000280057.6
      Conserved Domains (1) summary
      pfam15067
      Location:83314
      FAM124; FAM124 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p12 Primary Assembly

      Range
      51222334..51284241
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017020419.2XP_016875908.1  protein FAM124A isoform X2

    2. XM_011534978.2XP_011533280.1  protein FAM124A isoform X1

      Conserved Domains (1) summary
      pfam15067
      Location:83314
      FAM124; FAM124 family
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