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    FAM90A1 family with sequence similarity 90 member A1 [ Homo sapiens (human) ]

    Gene ID: 55138, updated on 7-Apr-2024

    Summary

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    Official Symbol
    FAM90A1provided by HGNC
    Official Full Name
    family with sequence similarity 90 member A1provided by HGNC
    Primary source
    HGNC:HGNC:25526
    See related
    Ensembl:ENSG00000171847 MIM:613041; AllianceGenome:HGNC:25526
    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
    FAM90A1 belongs to subfamily I of the primate-specific FAM90A gene family, which originated from multiple duplications and rearrangements (Bosch et al., 2007 [PubMed 17684299]).[supplied by OMIM, Oct 2009]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    Location:
    12p13.31
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (8221260..8227618, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (8235339..8241697, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (8373856..8380214, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene zinc finger protein 705A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8333169-8333668 Neighboring gene family with sequence similarity 66 member C Neighboring gene defensin beta 109F (pseudogene) Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:8375857-8377056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5931 Neighboring gene ALG1 like 10, pseudogene Neighboring gene family with sequence similarity 86, member A pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:8390159-8390659 Neighboring gene long intergenic non-protein coding RNA 2449

    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. Integrated analysis of DNA methylation and mRNA expression profiles to identify key genes involved in the regrowth of clinically non-functioning pituitary adenoma. Cheng S, et al. Aging (Albany NY), 2020 Feb 3. PMID 32015217, Free PMC Article
    2. Identification and functional characterization of transcriptional activators in human cells. Alerasool N, et al. Mol Cell, 2022 Feb 3. PMID 35016035
    3. Characterization and evolution of the novel gene family FAM90A in primates originated by multiple duplication and rearrangement events. Bosch N, et al. Hum Mol Genet, 2007 Nov 1. PMID 17684299
    4. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article
    5. DCAF8, a novel MuRF1 interaction partner, promotes muscle atrophy. Nowak M, et al. J Cell Sci, 2019 Sep 6. PMID 31391242

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Integrated analysis of DNA methylation and mRNA expression profiles to identify key genes involved in the regrowth of clinically non-functioning pituitary adenoma.
      Title: Integrated analysis of DNA methylation and mRNA expression profiles to identify key genes involved in the regrowth of clinically non-functioning pituitary adenoma.
    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

    • FLJ10408

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    protein FAM90A1

    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_001319982.2 → NP_001306911.1  protein FAM90A1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC092111, AK001270, DA088850
      Consensus CDS
      CCDS31738.1
      UniProtKB/Swiss-Prot
      D3DUU9, Q86YD7, Q9NVZ6
      Related
      ENSP00000307798.6, ENST00000307435.10
      Conserved Domains (2) summary
      pfam15288
      Location:41 → 76
      zf-CCHC_6; Zinc knuckle
      cl26464
      Location:25 → 371
      Atrophin-1; Atrophin-1 family

    2. NM_018088.3 → NP_060558.3  protein FAM90A1

      See identical proteins and their annotated locations for NP_060558.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC092111, BC042608, DA088850
      Consensus CDS
      CCDS31738.1
      UniProtKB/Swiss-Prot
      D3DUU9, Q86YD7, Q9NVZ6
      Related
      ENSP00000445418.1, ENST00000538603.6
      Conserved Domains (2) summary
      pfam15288
      Location:41 → 76
      zf-CCHC_6; Zinc knuckle
      cl26464
      Location:25 → 371
      Atrophin-1; Atrophin-1 family

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      8221260..8227618 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449030.2 → XP_024304798.1  protein FAM90A1 isoform X1

      UniProtKB/Swiss-Prot
      D3DUU9, Q86YD7, Q9NVZ6
      Conserved Domains (2) summary
      pfam15288
      Location:41 → 76
      zf-CCHC_6; Zinc knuckle
      cl26464
      Location:25 → 371
      Atrophin-1; Atrophin-1 family

    2. XM_047429059.1 → XP_047285015.1  protein FAM90A1 isoform X1

      UniProtKB/Swiss-Prot
      D3DUU9, Q86YD7, Q9NVZ6

    3. XM_017019547.2 → XP_016875036.1  protein FAM90A1 isoform X1

      UniProtKB/Swiss-Prot
      D3DUU9, Q86YD7, Q9NVZ6
      Conserved Domains (2) summary
      pfam15288
      Location:41 → 76
      zf-CCHC_6; Zinc knuckle
      cl26464
      Location:25 → 371
      Atrophin-1; Atrophin-1 family

    4. XM_011520719.2 → XP_011519021.1  protein FAM90A1 isoform X1

      See identical proteins and their annotated locations for XP_011519021.1

      UniProtKB/Swiss-Prot
      D3DUU9, Q86YD7, Q9NVZ6
      Conserved Domains (2) summary
      pfam15288
      Location:41 → 76
      zf-CCHC_6; Zinc knuckle
      cl26464
      Location:25 → 371
      Atrophin-1; Atrophin-1 family

    5. XM_024449029.2 → XP_024304797.1  protein FAM90A1 isoform X1

      UniProtKB/Swiss-Prot
      D3DUU9, Q86YD7, Q9NVZ6
      Conserved Domains (2) summary
      pfam15288
      Location:41 → 76
      zf-CCHC_6; Zinc knuckle
      cl26464
      Location:25 → 371
      Atrophin-1; Atrophin-1 family

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      8235339..8241697 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372389.1 → XP_054228364.1  protein FAM90A1 isoform X1

    2. XM_054372388.1 → XP_054228363.1  protein FAM90A1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YD7.3 GenPept UniProtKB/Swiss-Prot:Q86YD7

    Gene LinkOut

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

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