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    CFAP70 cilia and flagella associated protein 70 [ Homo sapiens (human) ]

    Gene ID: 118491, updated on 3-Nov-2024

    Summary

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    Official Symbol
    CFAP70provided by HGNC
    Official Full Name
    cilia and flagella associated protein 70provided by HGNC
    Primary source
    HGNC:HGNC:30726
    See related
    Ensembl:ENSG00000156042 MIM:618661; AllianceGenome:HGNC:30726
    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
    TTC18; SPGF41
    Summary
    Predicted to be involved in cilium assembly and cilium movement. Predicted to act upstream of or within several processes, including homeostasis of number of cells; single fertilization; and spermatid development. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 8.3), thyroid (RPKM 2.0) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CFAP70 in Genome Data Viewer
    Location:
    10q22.2
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73253762..73362979, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74125143..74236682, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (75013520..75118622, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 149 member B1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:75006455-75007654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:75012121-75012688 Neighboring gene DnaJ heat shock protein family (Hsp40) member C9 Neighboring gene DNAJC9 and MRPS16 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75015484-75015659 Neighboring gene mitochondrial ribosomal protein S16 Neighboring gene RNA, U6 small nuclear 833, pseudogene Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 9775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:75117765-75118290 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:75118291-75118816 Neighboring gene annexin A7 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:75165474-75165974 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:75170289-75170496 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3561 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3562 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2483 Neighboring gene ribosomal protein L26 pseudogene 6

    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. Chlamydomonas FAP70 is a component of the previously uncharacterized ciliary central apparatus projection C2a. Hou Y, et al. J Cell Sci, 2021 Jun 15. PMID 33988244, Free PMC Article
    2. CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report. Beurois J, et al. Hum Reprod, 2019 Oct 2. PMID 31621862
    3. CFAP70 Is a Novel Axoneme-Binding Protein That Localizes at the Base of the Outer Dynein Arm and Regulates Ciliary Motility. Shamoto N, et al. Cells, 2018 Aug 29. PMID 30158508, Free PMC Article
    4. Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. Dacheux D, et al. Elife, 2023 Nov 7. PMID 37934199, Free PMC Article
    5. TRIM21 ameliorates hepatic glucose and lipid metabolic disorders in type 2 diabetes mellitus by ubiquitination of PEPCK1 and FASN. Zhang K, et al. Cell Mol Life Sci, 2023 May 30. PMID 37249651, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
      Title: CFAP70 mutations lead to male infertility due to severe astheno-teratozoospermia. A case report.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
    Submit: New GeneRIF Correction

    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

    Associated conditions

    Description Tests
    Spermatogenic failure 41
    MedGen: C5231455 OMIM: 618670 GeneReviews: Not available
    		Compare labs

    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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    Markers

    Homology

    Clone Names

    • FLJ12173, FLJ25765

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium movement ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular exosome HDA PubMed 
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of outer dynein arm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cilia- and flagella-associated protein 70
    Names
    TPR repeat protein 18
    tetratricopeptide repeat domain 18
    tetratricopeptide repeat protein 18
    tetratricopeptide repeat-containing protein (LOC118491)

    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_001350933.2 → NP_001337862.1  cilia- and flagella-associated protein 70 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL833537, BC032856, DB046355, HY008219
      Consensus CDS
      CCDS91263.1
      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8J8YUN0
      Related
      ENSP00000310829.4, ENST00000310715.8
      Conserved Domains (2) summary
      COG0457
      Location:837 → 1027
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:602 → 627
      TPR; TPR repeat [structural motif]

    2. NM_001350934.2 → NP_001337863.1  cilia- and flagella-associated protein 70 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL833537, BC032856, DB046355, HY008219
      Consensus CDS
      CCDS91262.1
      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8I5KZ08
      Related
      ENSP00000510588.1, ENST00000686590.1
      Conserved Domains (3) summary
      COG0457
      Location:715 → 905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480 → 505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480 → 537
      TPR_12; Tetratricopeptide repeat

    3. NM_001367801.1 → NP_001354730.1  cilia- and flagella-associated protein 70 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC016394, AL512656
      Consensus CDS
      CCDS91264.1
      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A087WSW1
      Related
      ENSP00000347781.4, ENST00000355577.9

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      73253762..73362979 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047424551.1 → XP_047280507.1  cilia- and flagella-associated protein 70 isoform X1

    2. XM_017015627.2 → XP_016871116.1  cilia- and flagella-associated protein 70 isoform X9

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    3. XM_017015621.2 → XP_016871110.1  cilia- and flagella-associated protein 70 isoform X2

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    4. XM_017015624.2 → XP_016871113.1  cilia- and flagella-associated protein 70 isoform X6

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      Conserved Domains (3) summary
      COG0457
      Location:902 → 1092
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      TIGR02917
      Location:682 → 1091
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:667 → 692
      TPR; TPR repeat [structural motif]

    5. XM_017015622.2 → XP_016871111.1  cilia- and flagella-associated protein 70 isoform X3

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    6. XM_017015629.2 → XP_016871118.1  cilia- and flagella-associated protein 70 isoform X10

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    7. XM_017015623.2 → XP_016871112.1  cilia- and flagella-associated protein 70 isoform X5

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    8. XM_017015626.2 → XP_016871115.1  cilia- and flagella-associated protein 70 isoform X8

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    9. XM_017015625.2 → XP_016871114.1  cilia- and flagella-associated protein 70 isoform X7

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    10. XM_017015620.2 → XP_016871109.1  cilia- and flagella-associated protein 70 isoform X1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31

    11. XM_006717610.3 → XP_006717673.1  cilia- and flagella-associated protein 70 isoform X11

      See identical proteins and their annotated locations for XP_006717673.1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8I5KZ08
      Conserved Domains (3) summary
      COG0457
      Location:715 → 905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480 → 505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480 → 537
      TPR_12; Tetratricopeptide repeat

    12. XM_006717604.3 → XP_006717667.1  cilia- and flagella-associated protein 70 isoform X4

      See identical proteins and their annotated locations for XP_006717667.1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A087WSW1
      Conserved Domains (2) summary
      sd00006
      Location:672 → 697
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:1034 → 1096
      TPR_11; TPR repeat

    13. XM_006717611.5 → XP_006717674.1  cilia- and flagella-associated protein 70 isoform X11

      See identical proteins and their annotated locations for XP_006717674.1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8I5KZ08
      Conserved Domains (3) summary
      COG0457
      Location:715 → 905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480 → 505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480 → 537
      TPR_12; Tetratricopeptide repeat

    14. XM_006717605.3 → XP_006717668.1  cilia- and flagella-associated protein 70 isoform X4

      See identical proteins and their annotated locations for XP_006717668.1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A087WSW1
      Conserved Domains (2) summary
      sd00006
      Location:672 → 697
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:1034 → 1096
      TPR_11; TPR repeat

    15. XM_047424552.1 → XP_047280508.1  cilia- and flagella-associated protein 70 isoform X4

      UniProtKB/TrEMBL
      A0A087WSW1

    16. XM_011539212.3 → XP_011537514.1  cilia- and flagella-associated protein 70 isoform X11

      See identical proteins and their annotated locations for XP_011537514.1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8I5KZ08
      Conserved Domains (3) summary
      COG0457
      Location:715 → 905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480 → 505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480 → 537
      TPR_12; Tetratricopeptide repeat

    17. XM_047424553.1 → XP_047280509.1  cilia- and flagella-associated protein 70 isoform X12

    18. XM_047424554.1 → XP_047280510.1  cilia- and flagella-associated protein 70 isoform X13

    19. XM_047424555.1 → XP_047280511.1  cilia- and flagella-associated protein 70 isoform X14

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      74125143..74236682 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364684.1 → XP_054220659.1  cilia- and flagella-associated protein 70 isoform X9

    2. XM_054364676.1 → XP_054220651.1  cilia- and flagella-associated protein 70 isoform X2

    3. XM_054364681.1 → XP_054220656.1  cilia- and flagella-associated protein 70 isoform X6

    4. XM_054364677.1 → XP_054220652.1  cilia- and flagella-associated protein 70 isoform X3

    5. XM_054364685.1 → XP_054220660.1  cilia- and flagella-associated protein 70 isoform X10

    6. XM_054364680.1 → XP_054220655.1  cilia- and flagella-associated protein 70 isoform X5

    7. XM_054364683.1 → XP_054220658.1  cilia- and flagella-associated protein 70 isoform X8

    8. XM_054364682.1 → XP_054220657.1  cilia- and flagella-associated protein 70 isoform X7

    9. XM_054364675.1 → XP_054220650.1  cilia- and flagella-associated protein 70 isoform X1

    10. XM_054364686.1 → XP_054220661.1  cilia- and flagella-associated protein 70 isoform X11

      UniProtKB/TrEMBL
      A0A8I5KZ08

    11. XM_054364678.1 → XP_054220653.1  cilia- and flagella-associated protein 70 isoform X4

      UniProtKB/TrEMBL
      A0A087WSW1

    12. XM_054364688.1 → XP_054220663.1  cilia- and flagella-associated protein 70 isoform X11

      UniProtKB/TrEMBL
      A0A8I5KZ08

    13. XM_054364679.1 → XP_054220654.1  cilia- and flagella-associated protein 70 isoform X4

      UniProtKB/TrEMBL
      A0A087WSW1

    14. XM_054364687.1 → XP_054220662.1  cilia- and flagella-associated protein 70 isoform X11

      UniProtKB/TrEMBL
      A0A8I5KZ08

    15. XM_054364689.1 → XP_054220664.1  cilia- and flagella-associated protein 70 isoform X12

    16. XM_054364690.1 → XP_054220665.1  cilia- and flagella-associated protein 70 isoform X13

    17. XM_054364691.1 → XP_054220666.1  cilia- and flagella-associated protein 70 isoform X14

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_145170.3: Suppressed sequence

      Description
      NM_145170.3: This RefSeq was removed because currently there is insufficient support for the transcript and protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T0N1.3 GenPept UniProtKB/Swiss-Prot:Q5T0N1

    Gene LinkOut

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

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    Molecular Biology Databases
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