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    CIBAR1 CBY1 interacting BAR domain containing 1 [ Homo sapiens (human) ]

    Gene ID: 137392, updated on 2-Nov-2024

    Summary

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    Official Symbol
    CIBAR1provided by HGNC
    Official Full Name
    CBY1 interacting BAR domain containing 1provided by HGNC
    Primary source
    HGNC:HGNC:30452
    See related
    Ensembl:ENSG00000188343 MIM:617273; AllianceGenome:HGNC:30452
    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
    PAPA9; BARMR1; FAM92A; FAM92A1
    Summary
    Enables phospholipid binding activity. Involved in several processes, including inner mitochondrial membrane organization; limb morphogenesis; and membrane tubulation. Located in several cellular components, including centriole; ciliary base; and mitochondrial crista. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 13.2), ovary (RPKM 4.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CIBAR1 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (93700550..93731527)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (94825618..94856535)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (94712778..94743755)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene CIBAR1 divergent transcript Neighboring gene uncharacterized LOC105375641 Neighboring gene zinc finger protein 317 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27618 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:94712406-94713030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27619 Neighboring gene RBM12B antisense RNA 1 Neighboring gene RBM12B divergent transcript Neighboring gene RNA binding motif protein 12B

    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. The Tumor-promoting Effects of FAM92A1-289 in Cervical Carcinoma Cells. Gui H, et al. Anticancer Res, 2016 Oct. PMID 27798880
    2. Optimizing purification of the peripheral membrane protein FAM92A1 fused to a modified spidroin tag. Wang Z, et al. Protein Expr Purif, 2022 Jan. PMID 34648955
    3. Prokaryotic expression, purification of a new tumor-relative protein FAM92A1-289 and its characterization in renal cell carcinoma. Liang S, et al. Cancer Lett, 2009 Apr 8. PMID 19059705
    4. BARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions. Zhi Ruan X, et al. Gene, 2021 Jan 10. PMID 32891772
    5. BARMR1-mediated sorafenib resistance is derived through stem-like property acquisition by activating integrin-FAK signaling pathways. Guo XR, et al. Signal Transduct Target Ther, 2020 Jun 12. PMID 32532973, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Optimizing purification of the peripheral membrane protein FAM92A1 fused to a modified spidroin tag.
      Title: Optimizing purification of the peripheral membrane protein FAM92A1 fused to a modified spidroin tag.
    2. BARMR1-mediated sorafenib resistance is derived through stem-like property acquisition by activating integrin-FAK signaling pathways.
      Title: BARMR1-mediated sorafenib resistance is derived through stem-like property acquisition by activating integrin-FAK signaling pathways.
    3. BARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions.
      Title: BARMR1/FAM92A1, a novel gene encoding BAR domain protein with multi-functions.
    4. a new nonsyndromic autosomal recessive nonsyndromic postaxial polydactyly type A ciliopathy due to a loss-of-function variant in FAM92A.
      Title: FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice.
    5. The findings uncover a role for a BAR domain FAM92A1 protein as a critical organizer of the mitochondrial ultrastructure that is indispensable for mitochondrial function.
      Title: FAM92A1 is a BAR domain protein required for mitochondrial ultrastructure and function.
    6. FAM92 proteins interact with Cby1 to promote ciliogenesis via regulation of membrane-remodeling processes.
      Title: BAR Domain-Containing FAM92 Proteins Interact with Chibby1 To Facilitate Ciliogenesis.
    7. FAM92A1-289 retains many oncogenic properties evidenced by facilitating cell migration, boosting cell proliferation and promoting colony formation in vitro and tumor growth in vivo, providing evidence for use as as a therapeutic target for cancer treatment.
      Title: The Tumor-promoting Effects of FAM92A1-289 in Cervical Carcinoma Cells.
    8. FAM92A1-289 is a new tumor-related gene with oncogenic potentials to probably play roles in renal carcinogenesis.
      Title: Prokaryotic expression, purification of a new tumor-relative protein FAM92A1-289 and its characterization in renal cell carcinoma.
    9. FAM92A1 has different splicing variants, and that it may take part in regulating cell proliferation and apoptosis.
      Title: Identification and characterization of two novel variants of the DUF1208 protein FAM92A1.
    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

    Associated conditions

    Description Tests
    Polydactyly, postaxial, type A9
    MedGen: C4748721 OMIM: 618219 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
    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

    • FLJ38979

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in inner mitochondrial membrane organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in limb morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in membrane organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in membrane tubulation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary base IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial crista IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    CBY1-interacting BAR domain-containing protein 1
    Names
    family with sequence similarity 92 member A
    family with sequence similarity 92 member A1
    protein FAM92A
    protein FAM92A1

    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_001283034.2 → NP_001269963.1  CBY1-interacting BAR domain-containing protein 1 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC010834, AC120053, CR627475, DQ327715
      Consensus CDS
      CCDS64933.1
      UniProtKB/Swiss-Prot
      A1XBS5
      Related
      ENSP00000401774.2, ENST00000423990.6
      Conserved Domains (1) summary
      cd07598
      Location:8 → 181
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    2. NM_145269.5 → NP_660312.2  CBY1-interacting BAR domain-containing protein 1 isoform 1

      See identical proteins and their annotated locations for NP_660312.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC010834, BC108707, CR627475
      Consensus CDS
      CCDS47892.1
      UniProtKB/Swiss-Prot
      A1XBS4, A1XBS5, Q32ND3, Q6AHW7, Q8N8R1, Q96L09
      Related
      ENSP00000429367.1, ENST00000518322.6
      Conserved Domains (1) summary
      cd07598
      Location:8 → 218
      BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

    RNA

    1. NR_104267.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC010834, BC014598, CR627475

    2. NR_104268.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC010834, AK096298, BC108707, CR627475

    3. NR_156451.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010834, AC120053, BC108707, CR627475, DA378289

    4. NR_156452.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010834, AC120053, BC108707, CR627475, DA378289

    5. NR_156453.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010834, BC108707, BX377341, CR627475, DA378289

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      93700550..93731527
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421350.1 → XP_047277306.1  CBY1-interacting BAR domain-containing protein 1 isoform X1

      Related
      ENSP00000430069.1, ENST00000522324.5

    2. XM_047421352.1 → XP_047277308.1  CBY1-interacting BAR domain-containing protein 1 isoform X2

    RNA

    1. XR_007060694.1 RNA Sequence

    2. XR_001745468.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      94825618..94856535
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359744.1 → XP_054215719.1  CBY1-interacting BAR domain-containing protein 1 isoform X1

    2. XM_054359746.1 → XP_054215721.1  CBY1-interacting BAR domain-containing protein 1 isoform X3

    3. XM_054359745.1 → XP_054215720.1  CBY1-interacting BAR domain-containing protein 1 isoform X2

    RNA

    1. XR_008487801.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1XBS5.2 GenPept UniProtKB/Swiss-Prot:A1XBS5

    Gene LinkOut

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