FAM149B1 Gene Summary [Human]

Involved in cilium assembly and protein localization to cilium. Predicted to be located in cilium. Implicated in Joubert syndrome. [provided by Alliance of Genome Resources, Apr 2022]

Details

Type
Protein Coding
Official Symbol
FAM149B1
Official Name
family with sequence similarity 149 member B1 [Source:HGNC Symbol;Acc:HGNC:29162]
Ensembl ID
ENSG00000138286
Bio databases IDs NCBI: 317662 Ensembl: ENSG00000138286
Aliases family with sequence similarity 149 member B1
Synonyms AA536717, AI428773, Fam149b, family with sequence similarity 149, member B, family with sequence similarity 149 member B1, family with sequence similarity 149, member B1, JBTS36, KIAA0974, mKIAA0974, RGD1359592
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FAM149B1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • protein binding
  • Protein of unknown function (DUF3719)

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Joubert syndrome type 36
  • Joubert syndrome type 1
regulated by
regulates
role in cell
  • accumulation in
  • assembly
  • length

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Unknown

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human FAM149B1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • cilium morphogenesis

Cellular Component

Where in the cell the gene product is active
  • cilium

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

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