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

Gene ID: 220108, updated on 23-Nov-2021

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
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Genomic context

See FAM124A in Genome Data Viewer
Location:
13q14.3
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (51222367..51284241)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (51796534..51858375)

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

Associated conditions

Description Tests
A genome-wide association study of rheumatoid arthritis without antibodies against citrullinated peptides.
GeneReviews: Not available

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
enables 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)

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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.

mRNA and Protein(s)

  1. NM_001242312.2NP_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
    ENSP00000324625.8, ENST00000322475.13
    Conserved Domains (1) summary
    pfam15067
    Location:47278
    FAM124; FAM124 family
  2. NM_001330522.2NP_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_145019.4NP_659456.3  protein FAM124A isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK096364, BC051771, 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 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_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    51222367..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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