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    FAM184A family with sequence similarity 184 member A [ Homo sapiens (human) ]

    Gene ID: 79632, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM184Aprovided by HGNC
    Official Full Name
    family with sequence similarity 184 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:20991
    See related
    Ensembl:ENSG00000111879 AllianceGenome:HGNC:20991
    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
    Also known as
    C6orf60
    Summary
    Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in testis (RPKM 10.2), placenta (RPKM 7.8) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM184A in Genome Data Viewer
    Location:
    6q22.31
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (118959763..119149128, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (120145951..120335327, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (119280928..119470293, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene selenoprotein K pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25014 Neighboring gene minichromosome maintenance 9 homologous recombination repair factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17504 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25015 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17505 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17506 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17507 Neighboring gene uncharacterized LOC124901389 Neighboring gene anti-silencing function 1A histone chaperone Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:119361669-119362560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17508 Neighboring gene MPRA-validated peak6067 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr6:119411357-119411858 Neighboring gene microRNA 548b Neighboring gene Sharpr-MPRA regulatory region 12550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17509 Neighboring gene mannosidase alpha class 1A member 1 Neighboring gene ribosomal protein L13a pseudogene 15 Neighboring gene Sharpr-MPRA regulatory region 13895 Neighboring gene RNA, U6 small nuclear 194, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Proteomic profiling of the TRAF3 interactome network reveals a new role for the ER-to-Golgi transport compartments in innate immunity. van Zuylen WJ, et al. PLoS Pathog, 2012. PMID 22792062, Free PMC Article
    2. Promyelocytic leukemia protein interacts with the apoptosis-associated speck-like protein to limit inflammasome activation. Dowling JK, et al. J Biol Chem, 2014 Mar 7. PMID 24407287, Free PMC Article
    3. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. Fatima S, et al. Sci Rep, 2015 Mar 30. PMID 25820252, Free PMC Article
    4. The MEKK1 PHD ubiquitinates TAB1 to activate MAPKs in response to cytokines. Charlaftis N, et al. EMBO J, 2014 Nov 3. PMID 25260751, Free PMC Article
    5. Systematic screening reveals a role for BRCA1 in the response to transcription-associated DNA damage. Hill SJ, et al. Genes Dev, 2014 Sep 1. PMID 25184681, Free PMC Article

    See all (33) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13942

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    located_in P-body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular space HDA PubMed 

    General protein information

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    Preferred Names
    protein FAM184A

    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_001100411.3 → NP_001093881.1  protein FAM184A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding regions, initiates translation at a downstream start codon and lacks an alternate in-frame exon in the 3' coding region, compared to isoform 1. It encodes isoform 2, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091682, AL132874, AU160036, BX538186, DA717412
      Consensus CDS
      CCDS43500.1
      UniProtKB/TrEMBL
      H0YBA5
      Related
      ENSP00000326608.6, ENST00000352896.9
      Conserved Domains (4) summary
      TIGR02168
      Location:105 → 822
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam01496
      Location:38 → 126
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam15665
      Location:1 → 144
      FAM184; Family with sequence similarity 184, A and B
      cl19219
      Location:399 → 516
      DUF342; Protein of unknown function (DUF342)

    2. NM_001288576.2 → NP_001275505.1  protein FAM184A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and 5' coding regions, initiates translation at a downstream start codon and lacks two alternate in-frame exons in the 3' coding region, compared to isoform 1. It encodes isoform 3, which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AK091682, AL132874, AU160036, BC060769
      Consensus CDS
      CCDS75508.1
      UniProtKB/TrEMBL
      H0YBA5, H7BY63
      Related
      ENSP00000357460.4, ENST00000368475.8
      Conserved Domains (4) summary
      TIGR02168
      Location:105 → 822
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type
      pfam01496
      Location:38 → 126
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam15665
      Location:1 → 144
      FAM184; Family with sequence similarity 184, A and B
      cl19219
      Location:399 → 516
      DUF342; Protein of unknown function (DUF342)

    3. NM_024581.6 → NP_078857.5  protein FAM184A isoform 1

      See identical proteins and their annotated locations for NP_078857.5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AI457286, AL132874, AL137009, AU160036, BC060769, DB237883
      Consensus CDS
      CCDS43499.1
      UniProtKB/Swiss-Prot
      B9DI75, F8W8D6, Q5TBS9, Q7Z323, Q8NB25, Q96GY8, Q9H0J8, Q9H851
      UniProtKB/TrEMBL
      Q6P9G8
      Related
      ENSP00000342604.7, ENST00000338891.12
      Conserved Domains (3) summary
      COG0419
      Location:512 → 1023
      SbcC; DNA repair exonuclease SbcCD ATPase subunit [Replication, recombination and repair]
      COG1196
      Location:43 → 701
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam15665
      Location:54 → 264
      FAM184; Family with sequence similarity 184, A and B

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      118959763..119149128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      120145951..120335327 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NB25.3 GenPept UniProtKB/Swiss-Prot:Q8NB25

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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