CFAP126 cilia and flagella associated protein 126 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CFAP126provided by HGNC
Official Full Name: cilia and flagella associated protein 126provided by HGNC
Primary source: HGNC:HGNC:32325
See related: Ensembl:ENSG00000188931 MIM:616119; AllianceGenome:HGNC:32325
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: Fltp; Flattop; C1orf192
Summary: Predicted to be involved in cilium organization and flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in liver (RPKM 108.4), fat (RPKM 105.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q23.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (161364733..161367876, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (160502177..160505320, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (161334523..161337666, 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 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?

Diabetes and CFAP126 gene mutation; are they really linked together?
Title: Diabetes and CFAP126 gene mutation; are they really linked together?

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

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

A009J11 (e-PCR)
- UniSTS:53509

RH68877 (e-PCR)
- UniSTS:67607

G32575 (e-PCR)
- UniSTS:117158

RH104510 (e-PCR)
- UniSTS:98810

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cilium organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in flagellated sperm motility	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
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
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	ISS Inferred from Sequence or Structural Similarity more info
located_in cilium	ISS Inferred from Sequence or Structural Similarity more info
is_active_in sperm flagellum	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: protein Flattop

Names: UPF0740 protein C1orf192

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.