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

Gene ID: 137392, updated on 3-Feb-2021

Summary

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
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
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

See CIBAR1 in Genome Data Viewer
Location:
8q22.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (93700550..93731527)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (94712778..94743755)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 535 Neighboring gene uncharacterized LOC105375641 Neighboring gene zinc finger protein 317 pseudogene 1 Neighboring gene uncharacterized LOC105375645 Neighboring gene RBM12B antisense RNA 1 Neighboring gene RNA binding motif protein 12B

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

Associated conditions

Description Tests
A genome-wide meta-analysis of association studies of Cloninger's Temperament Scales.
GeneReviews: Not available
Polydactyly, postaxial, type A9
MedGen: C4748721 OMIM: 618219 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ38979

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
inner mitochondrial membrane organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
membrane organization IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of smoothened signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
centriole IDA
Inferred from Direct Assay
more info
PubMed 
ciliary basal body IEA
Inferred from Electronic Annotation
more info
 
ciliary base IDA
Inferred from Direct Assay
more info
PubMed 
ciliary transition zone ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein FAM92A
Names
family with sequence similarity 92 member A
family with sequence similarity 92 member A1
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_001283034.2NP_001269963.1  protein FAM92A 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:8181
    BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)
  2. NM_145269.5NP_660312.2  protein FAM92A 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
    A1XBS5
    Related
    ENSP00000429367.1, ENST00000518322.6
    Conserved Domains (1) summary
    cd07598
    Location:8218
    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: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

RNA

  1. XR_001745470.1 RNA Sequence

  2. XR_001745468.1 RNA Sequence

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