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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
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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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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
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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)

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

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