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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
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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)

Genotypes

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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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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