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

    Gene ID: 81553, updated on 2-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Broad expression in brain (RPKM 30.2), thyroid (RPKM 23.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CYRIA in Genome Data Viewer
    Location:
    2p24.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (16549459..16665834, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (16581160..16697534, complement)
    RS_2024_09 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

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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. CYRI/ Fam49 Proteins Represent a New Class of Rac1 Interactors. Whitelaw JA, et al. Commun Integr Biol, 2019. PMID 31413787, Free PMC Article
    2. CYRI-A limits invasive migration through macropinosome formation and integrin uptake regulation. Le AH, et al. J Cell Biol, 2021 Sep 6. PMID 34165494, Free PMC Article
    3. Genetic variants of MGMT, RHPN2, and FAM49A contributed to susceptibility of nonsyndromic orofacial clefts in a Chinese population. Chen C, et al. J Oral Pathol Med, 2018 Sep. PMID 29949196
    4. Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. Leger PD, et al. J Neurovirol, 2014 Jun. PMID 24554482, Free PMC Article
    5. CBFβ stabilizes HIV Vif to counteract APOBEC3 at the expense of RUNX1 target gene expression. Kim DY, et al. Mol Cell, 2013 Feb 21. PMID 23333304, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CYRI-A limits invasive migration through macropinosome formation and integrin uptake regulation.
      Title: CYRI-A limits invasive migration through macropinosome formation and integrin uptake regulation.
    2. confirmed that three genes (rs7922405 of MGMT, rs73039426 of RHPN2, and rs7552 of FAM49A) may contribute to nonsyndromic orofacial clefts in Chinese populations
      Title: Genetic variants of MGMT, RHPN2, and FAM49A contributed to susceptibility of nonsyndromic orofacial clefts in a Chinese population.
    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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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

    NCBI Reference Sequences (RefSeq)

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    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_030797.4 → NP_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:17 → 319
      DUF1394; Protein of unknown function (DUF1394)

    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_000002.12 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
      Conserved Domains (1) summary
      pfam07159
      Location:17 → 319
      DUF1394; Protein of unknown function (DUF1394)

    2. XM_047445942.1 → XP_047301898.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    3. XM_024453166.2 → XP_024308934.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
      Conserved Domains (1) summary
      pfam07159
      Location:17 → 319
      DUF1394; Protein of unknown function (DUF1394)

    4. XM_047445943.1 → XP_047301899.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    5. XM_047445941.1 → XP_047301897.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
      Related
      ENSP00000384771.1, ENST00000406434.5

    6. XM_047445940.1 → XP_047301896.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    7. XM_047445939.1 → XP_047301895.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    8. XM_047445945.1 → XP_047301901.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    9. XM_047445944.1 → XP_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_054344088.1 → XP_054200063.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    2. XM_054344097.1 → XP_054200072.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    3. XM_054344090.1 → XP_054200065.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    4. XM_054344096.1 → XP_054200071.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    5. XM_054344093.1 → XP_054200068.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    6. XM_054344089.1 → XP_054200064.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    7. XM_054344091.1 → XP_054200066.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    8. XM_054344095.1 → XP_054200070.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    9. XM_054344094.1 → XP_054200069.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0

    10. XM_054344092.1 → XP_054200067.1  CYFIP-related Rac1 interactor A isoform X1

      UniProtKB/Swiss-Prot
      B3KNZ1, Q53QW2, Q9H0Q0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H0Q0.1 GenPept UniProtKB/Swiss-Prot:Q9H0Q0

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

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