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    CYRIA CYFIP related Rac1 interactor A [ Homo sapiens (human) ]

    Gene ID: 81553, updated on 5-Mar-2024

    Summary

    Official Symbol
    CYRIAprovided by HGNC
    Official Full Name
    CYFIP related Rac1 interactor Aprovided by HGNC
    Primary source
    HGNC:HGNC:25373
    See related
    Ensembl:ENSG00000197872 AllianceGenome:HGNC:25373
    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
    CYRI-A; FAM49A
    Summary
    Predicted to enable small GTPase binding activity. Predicted to be involved in regulation of actin filament polymerization. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in brain (RPKM 30.2), thyroid (RPKM 23.9) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYRIA in Genome Data Viewer
    Location:
    2p24.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (16549459..16665834, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (16581160..16697534, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (16730727..16847102, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985855 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:16618830-16619015 Neighboring gene uncharacterized LOC105373444 Neighboring gene NANOG hESC enhancer GRCh37_chr2:16676974-16677534 Neighboring gene Sharpr-MPRA regulatory region 232 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:16789747-16790248 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:16790249-16790748 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15350 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15349 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11186 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11187 Neighboring gene NANOG hESC enhancer GRCh37_chr2:16965833-16966386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:17036591-17037091 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:17112808-17113014 Neighboring gene long intergenic non-protein coding RNA 1866 Neighboring gene NANOG hESC enhancer GRCh37_chr2:17240233-17240935 Neighboring gene NANOG hESC enhancer GRCh37_chr2:17264922-17265523 Neighboring gene RN7SK pseudogene 168

    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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of family with sequence similarity 49, member A (FAM49A) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ11080, FLJ33961, DKFZp566A1524

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
     
    enables small GTPase binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in regulation of actin filament polymerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    CYFIP-related Rac1 interactor A
    Names
    family with sequence similarity 49 member A
    protein FAM49A

    NCBI Reference Sequences (RefSeq)

    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_030797.4NP_110424.1  CYFIP-related Rac1 interactor A

      See identical proteins and their annotated locations for NP_110424.1

      Status: VALIDATED

      Source sequence(s)
      AC104623, BC038971, DA188616
      Consensus CDS
      CCDS1688.1
      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
      Related
      ENSP00000370724.3, ENST00000381323.7
      Conserved Domains (1) summary
      pfam07159
      Location:17319
      DUF1394; Protein of unknown function (DUF1394)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      16549459..16665834 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453163.2XP_024308931.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
      Conserved Domains (1) summary
      pfam07159
      Location:17319
      DUF1394; Protein of unknown function (DUF1394)
    2. XM_047445942.1XP_047301898.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    3. XM_024453166.2XP_024308934.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
      Conserved Domains (1) summary
      pfam07159
      Location:17319
      DUF1394; Protein of unknown function (DUF1394)
    4. XM_047445943.1XP_047301899.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    5. XM_047445941.1XP_047301897.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
      Related
      ENSP00000384771.1, ENST00000406434.5
    6. XM_047445940.1XP_047301896.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    7. XM_047445939.1XP_047301895.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    8. XM_047445945.1XP_047301901.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    9. XM_047445944.1XP_047301900.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      16581160..16697534 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344088.1XP_054200063.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    2. XM_054344097.1XP_054200072.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    3. XM_054344090.1XP_054200065.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    4. XM_054344096.1XP_054200071.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    5. XM_054344093.1XP_054200068.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    6. XM_054344089.1XP_054200064.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    7. XM_054344091.1XP_054200066.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    8. XM_054344095.1XP_054200070.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    9. XM_054344094.1XP_054200069.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    10. XM_054344092.1XP_054200067.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0