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

Gene ID: 73873, updated on 21-Apr-2024

Summary

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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, Apr 2022]
Expression
Biased expression in testis adult (RPKM 9.3), bladder adult (RPKM 2.2) and 6 other tissues See more
Orthologs
human all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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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 (23) 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

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Alleles

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

General gene information

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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
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly ISO
Inferred from Sequence Orthology
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 cell projection IEA
Inferred from Electronic Annotation
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 
colocalizes_with ciliary basal body ISO
Inferred from Sequence Orthology
more info
  
located_in ciliary basal body ISO
Inferred from Sequence Orthology
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 cytoskeleton 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

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Preferred Names
protein FAM161A

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_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

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