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

    Gene ID: 118491, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in testis (RPKM 8.3), thyroid (RPKM 2.0) and 13 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ12173, FLJ25765

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    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

    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)

    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_001350933.2NP_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:8371027
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:602627
      TPR; TPR repeat [structural motif]
    2. NM_001350934.2NP_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:715905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480537
      TPR_12; Tetratricopeptide repeat
    3. NM_001367801.1NP_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_047424551.1XP_047280507.1  cilia- and flagella-associated protein 70 isoform X1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    2. XM_017015627.2XP_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_017015621.2XP_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_017015624.2XP_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:9021092
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      TIGR02917
      Location:6821091
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:667692
      TPR; TPR repeat [structural motif]
    5. XM_017015622.2XP_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_017015629.2XP_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_017015623.2XP_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_017015626.2XP_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_017015625.2XP_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_017015620.2XP_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_006717610.3XP_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:715905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480537
      TPR_12; Tetratricopeptide repeat
    12. XM_006717604.3XP_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:672697
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:10341096
      TPR_11; TPR repeat
    13. XM_006717611.5XP_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:715905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480537
      TPR_12; Tetratricopeptide repeat
    14. XM_006717605.3XP_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:672697
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:10341096
      TPR_11; TPR repeat
    15. XM_047424552.1XP_047280508.1  cilia- and flagella-associated protein 70 isoform X4

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A087WSW1
    16. XM_011539212.3XP_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:715905
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:480505
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:480537
      TPR_12; Tetratricopeptide repeat
    17. XM_047424553.1XP_047280509.1  cilia- and flagella-associated protein 70 isoform X12

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

    19. XM_047424555.1XP_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_054364684.1XP_054220659.1  cilia- and flagella-associated protein 70 isoform X9

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    2. XM_054364676.1XP_054220651.1  cilia- and flagella-associated protein 70 isoform X2

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    3. XM_054364681.1XP_054220656.1  cilia- and flagella-associated protein 70 isoform X6

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    4. XM_054364677.1XP_054220652.1  cilia- and flagella-associated protein 70 isoform X3

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    5. XM_054364685.1XP_054220660.1  cilia- and flagella-associated protein 70 isoform X10

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    6. XM_054364680.1XP_054220655.1  cilia- and flagella-associated protein 70 isoform X5

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    7. XM_054364683.1XP_054220658.1  cilia- and flagella-associated protein 70 isoform X8

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    8. XM_054364682.1XP_054220657.1  cilia- and flagella-associated protein 70 isoform X7

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    9. XM_054364675.1XP_054220650.1  cilia- and flagella-associated protein 70 isoform X1

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
    10. XM_054364686.1XP_054220661.1  cilia- and flagella-associated protein 70 isoform X11

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8I5KZ08
    11. XM_054364678.1XP_054220653.1  cilia- and flagella-associated protein 70 isoform X4

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A087WSW1
    12. XM_054364688.1XP_054220663.1  cilia- and flagella-associated protein 70 isoform X11

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8I5KZ08
    13. XM_054364679.1XP_054220654.1  cilia- and flagella-associated protein 70 isoform X4

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A087WSW1
    14. XM_054364687.1XP_054220662.1  cilia- and flagella-associated protein 70 isoform X11

      UniProtKB/Swiss-Prot
      C9JIZ9, Q5T0M4, Q5T0M9, Q5T0N0, Q5T0N1, Q69YH9, Q8IYZ8, Q8N7D5, Q8NI30, Q8NI31
      UniProtKB/TrEMBL
      A0A8I5KZ08
    15. XM_054364689.1XP_054220664.1  cilia- and flagella-associated protein 70 isoform X12

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

    17. XM_054364691.1XP_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.