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

Gene ID: 118491, updated on 13-Apr-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. Located in ciliary basal body and sperm flagellum. Part of outer dynein arm. Implicated in spermatogenic failure 41. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 8.3), thyroid (RPKM 2.0) and 13 other tissues See more
Orthologs
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Genomic context

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Location:
10q22.2
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (73253762..73362979, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (74125143..74236682, complement)
105.20220307 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
  • 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. 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
  2. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Grupe A, et al. Am J Hum Genet, 2006 Jan. PMID 16385451, Free PMC Article
  3. Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development. Wang P, et al. J Clin Invest, 2019 Jul 25. PMID 31343991, 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. Large-scale proteomics and phosphoproteomics of urinary exosomes. Gonzales PA, et al. J Am Soc Nephrol, 2009 Feb. PMID 19056867, Free PMC Article

See all (9) 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_2023_10

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

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