U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Fam161a family with sequence similarity 161, member A [ Mus musculus (house mouse) ]

    Gene ID: 73873, updated on 28-Oct-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Fam161aprovided by MGI
    Official Full Name
    family with sequence similarity 161, member Aprovided by MGI
    Primary source
    MGI:MGI:1921123
    See related
    Ensembl:ENSMUSG00000049811 AllianceGenome:MGI:1921123
    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
    4930430E16Rik
    Summary
    Predicted to enable identical protein binding activity and microtubule binding activity. Acts upstream of or within cilium organization. Located in microtubule organizing center; photoreceptor connecting cilium; and photoreceptor inner segment. Is expressed in several structures, including aorta; brain; eye; reproductive system; and respiratory system. Used to study retinitis pigmentosa 28. Human ortholog(s) of this gene implicated in retinitis pigmentosa 28. Orthologous to human FAM161A (FAM161 centrosomal protein A). [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Biased expression in testis adult (RPKM 9.3), bladder adult (RPKM 2.2) and 6 other tissues See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Fam161a in Genome Data Viewer
    Location:
    11 A3.2; 11 14.25 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (22956725..22995743)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (23006721..23045743)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene COMM domain containing 1 Neighboring gene zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2, pseudogene 1 Neighboring gene STARR-positive B cell enhancer ABC_E10666 Neighboring gene STARR-seq mESC enhancer starr_28896 Neighboring gene STARR-seq mESC enhancer starr_28897 Neighboring gene STARR-positive B cell enhancer ABC_E9817 Neighboring gene chaperonin containing TCP1 subunit 4 Neighboring gene STARR-seq mESC enhancer starr_28898 Neighboring gene STARR-seq mESC enhancer starr_28899 Neighboring gene STARR-seq mESC enhancer starr_28902 Neighboring gene predicted gene 12059 Neighboring gene STARR-seq mESC enhancer starr_28903 Neighboring gene predicted gene, 39610

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Mouse ENCODE transcriptome data 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

    Go to the top of the pageHelp

    Related articles in PubMed

    1. The connecting cilium inner scaffold provides a structural foundation that protects against retinal degeneration. Mercey O, et al. PLoS Biol, 2022 Jun. PMID 35709082, Free PMC Article
    2. Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa. Bandah-Rozenfeld D, et al. Am J Hum Genet, 2010 Sep 10. PMID 20705279, Free PMC Article
    3. Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Langmann T, et al. Am J Hum Genet, 2010 Sep 10. PMID 20705278, Free PMC Article
    4. The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association. Zach F, et al. Hum Mol Genet, 2012 Nov 1. PMID 22791751
    5. A new mouse model for retinal degeneration due to Fam161a deficiency. Beryozkin A, et al. Sci Rep, 2021 Jan 21. PMID 33479377, Free PMC Article

    See all (24) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A new mouse model for retinal degeneration due to Fam161a deficiency.
      Title: A new mouse model for retinal degeneration due to Fam161a deficiency.
    2. Fam161a is required for the molecular delivery into the outer segment cilium, a function which is essential for outer segment disk formation and ultimately visual function.
      Title: Disruption of the retinitis pigmentosa 28 gene Fam161a in mice affects photoreceptor ciliary structure and leads to progressive retinal degeneration.
    3. FAM161A-associated RP can be considered as a novel retinal ciliopathy and that its molecular pathogenesis may be related to other ciliopathies.
      Title: FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.
    4. These data suggest a pivotal role for FAM161A in photoreceptors and reveal that FAM161A loss-of-function mutations are a major cause of autosomal-recessive Retinitis pigmentosa.
      Title: Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.
    5. Null mutations in FAM161A are responsible for the RP28-associated autosomal-recessive retinitis pigmentosa.
      Title: Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.
    Submit: New GeneRIF Correction

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Gene trapped (1) 
    • Targeted (3) 

    General gene information

    Go to the top of the page Help

    Homology

    Clone Names

    • MGC31583

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables microtubule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    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 cilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cilium organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of protein acetylation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in astral microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    colocalizes_with 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 basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitotic spindle ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in mitotic spindle pole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor cell cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in photoreceptor connecting cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in photoreceptor connecting cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor connecting cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in photoreceptor inner segment IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in photoreceptor inner segment ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in spindle microtubule ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    protein FAM161A

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_001363282.2 → NP_001350211.1  protein FAM161A isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      UniProtKB/TrEMBL
      A0A991D8A3
      Conserved Domains (1) summary
      pfam10595
      Location:230 → 399
      UPF0564; Uncharacterized protein family UPF0564

    2. NM_001363283.2 → NP_001350212.1  protein FAM161A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      Consensus CDS
      CCDS48757.1
      UniProtKB/Swiss-Prot
      Q8QZV6
      UniProtKB/TrEMBL
      A0A991D8A3, B1AVK0
      Related
      ENSMUSP00000105184.4, ENSMUST00000109557.10
      Conserved Domains (1) summary
      pfam10595
      Location:150 → 319
      UPF0564; Uncharacterized protein family UPF0564

    3. NM_001363284.2 → NP_001350213.1  protein FAM161A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      Consensus CDS
      CCDS48757.1
      UniProtKB/Swiss-Prot
      Q8QZV6
      UniProtKB/TrEMBL
      A0A991D8A3, B1AVK0
      Related
      ENSMUSP00000134485.3, ENSMUST00000172602.9
      Conserved Domains (1) summary
      pfam10595
      Location:150 → 319
      UPF0564; Uncharacterized protein family UPF0564

    4. NM_001408343.1 → NP_001395272.1  protein FAM161A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      UniProtKB/Swiss-Prot
      Q8QZV6
      UniProtKB/TrEMBL
      B1AVK0

    5. NM_001408344.1 → NP_001395273.1  protein FAM161A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      UniProtKB/Swiss-Prot
      Q8QZV6
      UniProtKB/TrEMBL
      B1AVK0

    6. NM_001408345.1 → NP_001395274.1  protein FAM161A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      UniProtKB/Swiss-Prot
      Q8QZV6
      UniProtKB/TrEMBL
      B1AVK0

    7. NM_001408346.1 → NP_001395275.1  protein FAM161A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      UniProtKB/Swiss-Prot
      Q8QZV6
      UniProtKB/TrEMBL
      B1AVK0

    8. NM_001408347.1 → NP_001395276.1  protein FAM161A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    9. NM_001408348.1 → NP_001395277.1  protein FAM161A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    10. NM_001408349.1 → NP_001395278.1  protein FAM161A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    11. NM_001408350.1 → NP_001395279.1  protein FAM161A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      Related
      ENSMUSP00000146368.2, ENSMUST00000208732.2

    12. NM_001408351.1 → NP_001395280.1  protein FAM161A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    13. NM_001408352.1 → NP_001395281.1  protein FAM161A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    14. NM_001408353.1 → NP_001395282.1  protein FAM161A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    15. NM_001408354.1 → NP_001395283.1  protein FAM161A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    16. NM_001408355.1 → NP_001395284.1  protein FAM161A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    17. NM_001408356.1 → NP_001395285.1  protein FAM161A isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    18. NM_001408357.1 → NP_001395286.1  protein FAM161A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    19. NM_001408358.1 → NP_001395287.1  protein FAM161A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    20. NM_001408359.1 → NP_001395288.1  protein FAM161A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    21. NM_001408360.1 → NP_001395289.1  protein FAM161A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    22. NM_001408361.1 → NP_001395290.1  protein FAM161A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    23. NM_001408362.1 → NP_001395291.1  protein FAM161A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    24. NM_001408363.1 → NP_001395292.1  protein FAM161A isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    25. NM_001408364.1 → NP_001395293.1  protein FAM161A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    26. NM_001408365.1 → NP_001395294.1  protein FAM161A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    27. NM_001408367.1 → NP_001395296.1  protein FAM161A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    28. NM_001408368.1 → NP_001395297.1  protein FAM161A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    29. NM_001408369.1 → NP_001395298.1  protein FAM161A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    30. NM_001408370.1 → NP_001395299.1  protein FAM161A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    31. NM_001408372.1 → NP_001395301.1  protein FAM161A isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    32. NM_001408373.1 → NP_001395302.1  protein FAM161A isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    33. NM_001408374.1 → NP_001395303.1  protein FAM161A isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    34. NM_001408375.1 → NP_001395304.1  protein FAM161A isoform 12

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    35. NM_001408376.1 → NP_001395305.1  protein FAM161A isoform 11

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    36. NM_028672.4 → NP_082948.2  protein FAM161A isoform 2

      See identical proteins and their annotated locations for NP_082948.2

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008
      Consensus CDS
      CCDS48757.1
      UniProtKB/Swiss-Prot
      Q8QZV6
      UniProtKB/TrEMBL
      A0A991D8A3, B1AVK0
      Related
      ENSMUSP00000158891.2, ENSMUST00000238880.2
      Conserved Domains (1) summary
      pfam10595
      Location:150 → 319
      UPF0564; Uncharacterized protein family UPF0564

    RNA

    1. NR_176657.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    2. NR_176658.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    3. NR_176659.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    4. NR_176660.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    5. NR_176661.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    6. NR_176662.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    7. NR_176663.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    8. NR_176664.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    9. NR_176665.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    10. NR_176666.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    11. NR_176667.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    12. NR_176668.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    13. NR_176669.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    14. NR_176670.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    15. NR_176671.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    16. NR_176672.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    17. NR_176673.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL691470, BX001008

    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

    1. NC_000077.7 Reference GRCm39 C57BL/6J

      Range
      22956725..22995743
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011243762.4 → XP_011242064.1  protein FAM161A isoform X5

      See identical proteins and their annotated locations for XP_011242064.1

      UniProtKB/TrEMBL
      A0A140LHD1
      Conserved Domains (1) summary
      pfam10595
      Location:150 → 503
      UPF0564; Uncharacterized protein family UPF0564

    2. XM_006514828.5 → XP_006514891.1  protein FAM161A isoform X1

      UniProtKB/TrEMBL
      A0A140LHD1
      Conserved Domains (1) summary
      pfam10595
      Location:230 → 583
      UPF0564; Uncharacterized protein family UPF0564

    3. XM_006514830.5 → XP_006514893.1  protein FAM161A isoform X3

      Conserved Domains (1) summary
      pfam10595
      Location:230 → 399
      UPF0564; Uncharacterized protein family UPF0564

    4. XM_011243760.4 → XP_011242062.1  protein FAM161A isoform X8

      Conserved Domains (1) summary
      pfam10595
      Location:230 → 399
      UPF0564; Uncharacterized protein family UPF0564

    5. XM_011243761.4 → XP_011242063.1  protein FAM161A isoform X9

      Conserved Domains (1) summary
      pfam10595
      Location:230 → 399
      UPF0564; Uncharacterized protein family UPF0564

    6. XM_017314799.3 → XP_017170288.1  protein FAM161A isoform X5

      UniProtKB/TrEMBL
      A0A140LHD1
      Conserved Domains (1) summary
      pfam10595
      Location:150 → 503
      UPF0564; Uncharacterized protein family UPF0564

    RNA

    1. XR_004937051.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8QZV6.2 GenPept UniProtKB/Swiss-Prot:Q8QZV6

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools