Cibar1 CBY1 interacting BAR domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cibar1provided by MGI
Official Full Name: CBY1 interacting BAR domain containing 1provided by MGI
Primary source: MGI:MGI:1915349
See related: Ensembl:ENSMUSG00000028218 AllianceGenome:MGI:1915349
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fam92a; Fam92a1; 6720467C03Rik
Summary: Predicted to enable phospholipid binding activity. Involved in cilium assembly; limb morphogenesis; and positive regulation of smoothened signaling pathway. Located in ciliary basal body; ciliary transition zone; and mitochondrion. Is expressed in apical ectodermal ridge; limb bud; and limb mesenchyme. Used to study polydactyly. Orthologous to human CIBAR1 (CBY1 interacting BAR domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in CNS E18 (RPKM 13.6), CNS E11.5 (RPKM 11.7) and 21 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 A1; 4 5.58 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (12153142..12172047, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (12153142..12172023, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis.
Title: The Cby3/ciBAR1 complex positions the annulus along the sperm flagellum during spermiogenesis.
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.
Protein expression, expressing profile and subcellular localization of AK078438 gene set the basis for further exploration of its functions.[AK078438]
Title: [Cloning, expression, distribution and subcellular localization of AK078438 gene].

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
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	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in inner mitochondrial membrane organization	ISO Inferred from Sequence Orthology more info
involved_in inner mitochondrial membrane organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in limb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in membrane organization	ISO Inferred from Sequence Orthology more info
involved_in membrane tubulation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in centriole	IEA Inferred from Electronic Annotation more info
located_in centriole	ISO Inferred from Sequence Orthology more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	IDA Inferred from Direct Assay more info	PubMed
located_in ciliary base	ISO Inferred from Sequence Orthology more info
is_active_in ciliary transition zone	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrial crista	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: CBY1-interacting BAR domain-containing protein 1

Names: family with sequence similarity 92, member A; 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)

NM_001310743.1 → NP_001297672.1 CBY1-interacting BAR domain-containing protein 1 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is four amino acids shorter than isoform 1.

Source sequence(s)

AK013129, AK019574, AL929413, BE953978, CJ064072

Consensus CDS

CCDS80077.1

UniProtKB/TrEMBL

J3KMP6, Z4YJZ2

Related

ENSMUSP00000084284.5, ENSMUST00000087052.11

Conserved Domains (1) summary

cd07598
Location:77 → 283

BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)
NM_026558.5 → NP_080834.3 CBY1-interacting BAR domain-containing protein 1 isoform 1

See identical proteins and their annotated locations for NP_080834.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK078438, AL929413, BC055848, BE953978, CJ064072

Consensus CDS

CCDS51123.1

UniProtKB/TrEMBL

A0A8Q0KEJ4, J3KMP6

Related

ENSMUSP00000103920.3, ENSMUST00000108285.9

Conserved Domains (1) summary

cd07598
Location:77 → 287

BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

12153142..12172047 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006538210.5 → XP_006538273.1 CBY1-interacting BAR domain-containing protein 1 isoform X2

UniProtKB/TrEMBL

J3KMP6

Related

ENSMUSP00000135961.2, ENSMUST00000177837.8

Conserved Domains (1) summary

cd07598
Location:77 → 290

BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)
XM_006538209.5 → XP_006538272.1 CBY1-interacting BAR domain-containing protein 1 isoform X1

UniProtKB/TrEMBL

J3KMP6

Conserved Domains (1) summary

cd07598
Location:77 → 294

BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)
XM_006538212.5 → XP_006538275.1 CBY1-interacting BAR domain-containing protein 1 isoform X3

Conserved Domains (1) summary

cd07598
Location:77 → 257

BAR_FAM92; The Bin/Amphiphysin/Rvs (BAR) domain of Family with sequence similarity 92 (FAM92)