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CFAP58 cilia and flagella associated protein 58 [ Homo sapiens (human) ]

Gene ID: 159686, updated on 7-Aug-2022

Summary

Official Symbol
CFAP58provided by HGNC
Official Full Name
cilia and flagella associated protein 58provided by HGNC
Primary source
HGNC:HGNC:26676
See related
Ensembl:ENSG00000120051 MIM:619129; AllianceGenome:HGNC:26676
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
SPGF49; CCDC147; C10orf80; bA127L20.4; bA127L20.5; bA554P13.1
Summary
Involved in protein localization to motile cilium; sperm axoneme assembly; and sperm mitochondrial sheath assembly. Located in sperm midpiece. Implicated in spermatogenic failure 49. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 3.8), endometrium (RPKM 0.6) and 2 other tissues See more
Orthologs
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Genomic context

See CFAP58 in Genome Data Viewer
Location:
10q25.1
Exon count:
20
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (104338520..104455102)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (105226654..105343247)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (106098278..106214860)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 8343 Neighboring gene ITPRIP antisense RNA 1 Neighboring gene inositol 1,4,5-trisphosphate receptor interacting protein Neighboring gene Sharpr-MPRA regulatory region 11867 Neighboring gene CFAP58 divergent transcript Neighboring gene small nucleolar RNA U13 Neighboring gene long intergenic non-protein coding RNA 2620 Neighboring gene uncharacterized LOC105378464

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ35908, MGC126475

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to motile cilium IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in sperm flagellum assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sperm mitochondrial sheath assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in centrosome ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in cytoskeleton IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in extracellular space HDA PubMed 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 
located_in sperm midpiece IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
cilia- and flagella-associated protein 58
Names
coiled-coil domain containing 147
coiled-coil domain-containing protein 147

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_001008723.2NP_001008723.1  cilia- and flagella-associated protein 58 isoform 1

    See identical proteins and their annotated locations for NP_001008723.1

    Status: VALIDATED

    Source sequence(s)
    AL355378, BC036225
    Consensus CDS
    CCDS31282.1
    UniProtKB/Swiss-Prot
    Q5T655, Q8NA27
    Related
    ENSP00000358718.3, ENST00000369704.8
    Conserved Domains (1) summary
    COG1196
    Location:33709
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
  2. NM_001400226.1NP_001387155.1  cilia- and flagella-associated protein 58 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162742, AL355378
  3. NM_001400227.1NP_001387156.1  cilia- and flagella-associated protein 58 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL162742, AL355378

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    104338520..104455102
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    105226654..105343247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)