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

Summary

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; axoneme; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis (RPKM 17.3), lung (RPKM 4.0) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.2

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (159872364..159900165, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (159009376..159037231, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (159842154..159869955, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
Decreased NESG1 expression is an unfavorable prognostic factor for nasopharyngeal carcinoma.
Title: Potential tumor suppressor NESG1 as an unfavorable prognosis factor in nasopharyngeal carcinoma.
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.

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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
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AL009554 (e-PCR)
- UniSTS:39504

NoName (e-PCR)
- UniSTS:489832

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 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
located_in axonemal B tubule inner sheath	IEA Inferred from Electronic Annotation 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

General protein information

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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)

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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)

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