U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CFAP45 cilia and flagella associated protein 45 [ Homo sapiens (human) ]

Gene ID: 25790, updated on 27-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
CFAP45provided by HGNC
Official Full Name
cilia and flagella associated protein 45provided by HGNC
Primary source
HGNC:HGNC:17229
See related
Ensembl:ENSG00000213085 MIM:605152; AllianceGenome:HGNC:17229
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
HTX11; NESG1; CCDC19
Summary
Enables AMP binding activity. Involved in establishment of left/right asymmetry and flagellated sperm motility. Located in 9+2 motile cilium; axonemal microtubule; and nucleoplasm. Implicated in visceral heterotaxy. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CFAP45 in Genome Data Viewer
Location:
1q23.2
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (159872364..159900165, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (159009376..159037231, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (159842154..159869955, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 28 Neighboring gene small nucleolar RNA SNORD64 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1455 Neighboring gene uncharacterized LOC107985216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159830948-159831862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159831863-159832775 Neighboring gene V-set and immunoglobulin domain containing 8 Neighboring gene Sharpr-MPRA regulatory region 5062 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:159859176-159860375 Neighboring gene uncharacterized LOC124904434 Neighboring gene uncharacterized LOC124904435 Neighboring gene microRNA 4259 Neighboring gene Sharpr-MPRA regulatory regions 3039 and 8536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:159882219-159882720 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:159887707-159888596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1905 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1906 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1907 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1908 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1910 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1911 Neighboring gene uncharacterized LOC124904437 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:159893727-159894926 Neighboring gene transgelin 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Decreased expression of updated NESG1 in nasopharyngeal carcinoma: its potential role and preliminarily functional mechanism. Liu Z, et al. Int J Cancer, 2011 Jun 1. PMID 20715168
  2. Potential tumor suppressor NESG1 as an unfavorable prognosis factor in nasopharyngeal carcinoma. Liu Z, et al. PLoS One, 2011. PMID 22140479, Free PMC Article
  3. Proteomic features of potential tumor suppressor NESG1 in nasopharyngeal carcinoma. Liu Z, et al. Proteomics, 2012 Nov. PMID 22997098
  4. Molecular cloning of a novel tissue-specific gene from human nasopharyngeal epithelium. Li Z, et al. Gene, 1999 Sep 3. PMID 10524255
  5. VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer. Ning Y, et al. Cancer Sci, 2021 May. PMID 33788346, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
    Title: The cilia and flagella associated protein CFAP52 orchestrated with CFAP45 is required for sperm motility in mice.
  2. VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer.
    Title: VPS33B interacts with NESG1 to suppress cell growth and cisplatin chemoresistance in ovarian cancer.
  3. CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
    Title: CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
  4. this study identified a novel mechanism that MAGI2-AS3/miR-15b-5p/CCDC19 signaling pathway regulates bladder cancer progression.
    Title: Long noncoding RNA MAGI2-AS3 regulates CCDC19 expression by sponging miR-15b-5p and suppresses bladder cancer progression.
  5. Down-regulated CCDC19 expression was observed in non-small cell lung cancers.
    Title: Candidate tumour suppressor CCDC19 regulates miR-184 direct targeting of C-Myc thereby suppressing cell growth in non-small cell lung cancers.
  6. Used proteomics technology to globally examine NESG1-controlled proteins in nasopharyngeal carcinoma(NPC) cells. Interestingly, a-enolase (ENO1), an overexpressed gene in NPC, was confirmed as a NESG1-regulated protein in NPC cells.
    Title: Proteomic features of potential tumor suppressor NESG1 in nasopharyngeal carcinoma.
  7. Decreased NESG1 expression is an unfavorable prognostic factor for nasopharyngeal carcinoma.
    Title: Potential tumor suppressor NESG1 as an unfavorable prognosis factor in nasopharyngeal carcinoma.
  8. Decreased expression of NESG1 is associated with nasopharyngeal carcinoma.
    Title: Decreased expression of updated NESG1 in nasopharyngeal carcinoma: its potential role and preliminarily functional mechanism.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Heterotaxy, visceral, 11, autosomal, with male infertility
MedGen: C5562019 OMIM: 619608 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association of serum bilirubin levels in Korean population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables AMP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cerebrospinal fluid circulation IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cilium movement involved in determination of left/right asymmetry IEA
Inferred from Electronic Annotation
more info
  
involved_in establishment of left/right asymmetry IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cilium beat frequency involved in ciliary motility IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in 9+0 motile cilium IEA
Inferred from Electronic Annotation
more info
  
located_in 9+2 motile cilium IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in axonemal B 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
  
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

Go to the top of the page Help
Preferred Names
cilia- and flagella-associated protein 45
Names
coiled-coil domain containing 19
coiled-coil domain-containing protein 19, mitochondrial
nasopharyngeal epithelium specific protein 1 (NESG1)
nasopharyngeal epithelium-specific protein 1
protein CFAP45, mitochondrial

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_012337.3 → NP_036469.2  cilia- and flagella-associated protein 45

    See identical proteins and their annotated locations for NP_036469.2

    Status: VALIDATED

    Source sequence(s)
    AL590560, BC027874
    Consensus CDS
    CCDS30914.1
    UniProtKB/Swiss-Prot
    C9JH28, Q05BA3, Q5VU18, Q9UL16
    UniProtKB/TrEMBL
    A8K884
    Related
    ENSP00000357079.4, ENST00000368099.9
    Conserved Domains (2) summary
    pfam13868
    Location:187 → 532
    TPH; Trichohyalin-plectin-homology domain
    cl19818
    Location:330 → 385
    DUF106; Integral membrane protein DUF106

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    159872364..159900165 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    159009376..159037231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UL16.2 GenPept UniProtKB/Swiss-Prot:Q9UL16

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools