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CFAP161 cilia and flagella associated protein 161 [ Homo sapiens (human) ]

Gene ID: 161502, updated on 2-Nov-2024

Summary

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Official Symbol
CFAP161provided by HGNC
Official Full Name
cilia and flagella associated protein 161provided by HGNC
Primary source
HGNC:HGNC:26782
See related
Ensembl:ENSG00000156206 AllianceGenome:HGNC:26782
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
C15orf26
Summary
Predicted to be involved in cilium assembly and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 2.9), lung (RPKM 0.8) and 2 other tissues See more
Orthologs
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Genomic context

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See CFAP161 in Genome Data Viewer
Location:
15q25.1
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (81099408..81149179)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (78962932..79013182)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (81426611..81441520)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6741 Neighboring gene uncharacterized LOC128071545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:81295055-81295939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9947 Neighboring gene Sharpr-MPRA regulatory region 4802 Neighboring gene talin rod domain containing 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:81353064-81353253 Neighboring gene uncharacterized LOC124903540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9948 Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81481874-81483073 Neighboring gene interleukin 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9949 Neighboring gene Sharpr-MPRA regulatory regions 3481 and 15421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9951 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81585795-81586313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9952 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81588972-81589538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81589539-81590103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9956 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:81595578-81596777 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:81600895-81601072 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81605226-81606425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6743 Neighboring gene StAR related lipid transfer domain containing 5 Neighboring gene TMC3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81648807-81649306 Neighboring gene transmembrane channel like 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Austin-Tse C, et al. Am J Hum Genet, 2013 Oct 3. PMID 24094744, Free PMC Article
  2. SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules. Gui M, et al. Proc Natl Acad Sci U S A, 2022 Oct 11. PMID 36191189, Free PMC Article
  3. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. Boldt K, et al. Nat Commun, 2016 May 13. PMID 27173435, Free PMC Article
  4. Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer. Vichas A, et al. Nat Commun, 2021 Aug 9. PMID 34373451, Free PMC Article
  5. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Clone Names

  • FLJ38615

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in axonemal A tubule inner sheath ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in axonemal microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axonemal microtubule ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in motile cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
cilia- and flagella-associated protein 161

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_001353365.2 → NP_001340294.1  cilia- and flagella-associated protein 161 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
    Source sequence(s)
    BC062471, BU688866, DC398841

  2. NM_173528.4 → NP_775799.2  cilia- and flagella-associated protein 161 isoform 1

    See identical proteins and their annotated locations for NP_775799.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC036196, BC062471, DC398841
    Consensus CDS
    CCDS42068.1
    UniProtKB/Swiss-Prot
    Q6P656, Q8N906
    UniProtKB/TrEMBL
    B4DXT6
    Related
    ENSP00000286732.4, ENST00000286732.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    81099408..81149179
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720408.3 → XP_006720471.1  cilia- and flagella-associated protein 161 isoform X1

    UniProtKB/TrEMBL
    B4DXT6

  2. XM_017021963.2 → XP_016877452.1  cilia- and flagella-associated protein 161 isoform X1

    UniProtKB/TrEMBL
    B4DXT6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    78962932..79013182
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054377372.1 → XP_054233347.1  cilia- and flagella-associated protein 161 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6P656.1 GenPept UniProtKB/Swiss-Prot:Q6P656

Gene LinkOut

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