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    FAM185A family with sequence similarity 185 member A [ Homo sapiens (human) ]

    Gene ID: 222234, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FAM185Aprovided by HGNC
    Official Full Name
    family with sequence similarity 185 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:22412
    See related
    Ensembl:ENSG00000222011 AllianceGenome:HGNC:22412
    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
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See FAM185A in Genome Data Viewer
    Location:
    7q22.1
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (102748999..102850723)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (104063664..104165101)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (102389446..102491170)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene POLR2J2-UPK3BL1 readthrough Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:102321101-102321878 Neighboring gene uncharacterized LOC124901713 Neighboring gene RNA polymerase II subunit J2 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:102348051-102348175 Neighboring gene RAS p21 protein activator 4D, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2028 Neighboring gene ribosomal protein L7a pseudogene 39 Neighboring gene SNF2 related chromatin remodeling ATPase 5 pseudogene Neighboring gene RNA, U6 small nuclear 1136, pseudogene Neighboring gene F-box and leucine rich repeat protein 13 Neighboring gene RN7SK pseudogene 198 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:102516003-102517202 Neighboring gene NANOG hESC enhancer GRCh37_chr7:102541113-102541614 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:102580673-102581173 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:102584236-102584801 Neighboring gene leucine rich repeat containing 17

    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 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. Systematic interactome mapping of acute lymphoblastic leukemia cancer gene products reveals EXT-1 tumor suppressor as a Notch1 and FBWX7 common interactor. Daakour S, et al. BMC Cancer, 2016 May 26. PMID 27229929, Free PMC Article
    2. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242
    3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article
    4. Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context. Morgenstern M, et al. Cell Metab, 2021 Dec 7. PMID 34800366, Free PMC Article
    5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    • MGC35361

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in mitochondrion HTP PubMed 

    General protein information

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    Preferred Names
    protein FAM185A

    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_001145268.2 → NP_001138740.2  protein FAM185A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC006477, AC105052
      Consensus CDS
      CCDS47676.1
      UniProtKB/Swiss-Prot
      A8MUR7, B4DQD3, C9IZ91, Q8N0U4
      Related
      ENSP00000395340.2, ENST00000413034.3
      Conserved Domains (1) summary
      pfam13349
      Location:185 → 336
      DUF4097; Putative adhesin

    2. NM_001145269.2 → NP_001138741.2  protein FAM185A isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate donor splice site at the first exon and is missing the next coding exon compared to transcript variant 1. However, it maintains the reading frame and results in a shorter isoform (2) lacking a 118 aa protein segment compared to isoform 1.
      Source sequence(s)
      AC006477, AC105052
      Consensus CDS
      CCDS47677.1
      Related
      ENSP00000387066.3, ENST00000409231.7
      Conserved Domains (1) summary
      cl23960
      Location:98 → 196
      DUF4097; Putative adhesin

    3. NM_001350987.2 → NP_001337916.2  protein FAM185A isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes isoform 3.
      Source sequence(s)
      AC006477, AC105052
      Conserved Domains (1) summary
      cl23960
      Location:152 → 282
      DUF4097; Putative adhesin

    RNA

    1. NR_026879.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate donor splice site at the 5' terminal exon compared to transcript variant 1. The use of the translational start codon as in variant 1, results in premature translation termination, and renders this transcript a candidate for nonsense-mediated mRNA decay (NMD). The transcript is sufficiently abundant to represent it as a non-coding RefSeq record.
      Source sequence(s)
      AC006477, AC105052
      Related
      ENST00000420217.1

    2. NR_146976.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052

    3. NR_146977.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052

    4. NR_146978.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052

    5. NR_146979.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005250, AC006477, AC105052

    6. NR_146980.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052

    7. NR_146981.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005250, AC006477, AC105052

    8. NR_146982.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005250, AC006477, AC105052

    9. NR_146983.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052

    10. NR_146984.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005250, AC006477, AC105052

    11. NR_146985.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052

    12. NR_146986.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005250, AC006477, AC105052

    13. NR_146987.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052

    14. NR_146989.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC006477, AC105052
      Related
      ENST00000442873.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      102748999..102850723
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      104063664..104165101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_147194.1: Suppressed sequence

      Description
      NM_147194.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0U4.3 GenPept UniProtKB/Swiss-Prot:Q8N0U4

    Gene LinkOut

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

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