U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

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

Summary

Go to the top of the page Help
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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

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

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

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

Go to the top of the page Help
Preferred Names
protein FAM184A

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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.

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
Molecular Biology Databases
Research Materials
Tools
Miscellaneous