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CFAP44 cilia and flagella associated protein 44 [ Homo sapiens (human) ]

Gene ID: 55779, updated on 6-Sep-2022

Summary

Official Symbol
CFAP44provided by HGNC
Official Full Name
cilia and flagella associated protein 44provided by HGNC
Primary source
HGNC:HGNC:25631
See related
Ensembl:ENSG00000206530 MIM:617559; AllianceGenome:HGNC:25631
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
WDR52; SPGF20
Summary
Enables peptidase activity. Involved in sperm axoneme assembly. Acts upstream of or within microtubule cytoskeleton organization. Predicted to be located in cytoplasm; cytoskeleton; and motile cilium. Implicated in spermatogenic failure 20. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 3.1), skin (RPKM 2.1) and 25 other tissues See more
Orthologs
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Genomic context

See CFAP44 in Genome Data Viewer
Location:
3q13.2
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (113286930..113441514, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (116007998..116162657, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (113005777..113160361, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909486 Neighboring gene uncharacterized LOC124909409 Neighboring gene BOC cell adhesion associated, oncogene regulated Neighboring gene Sharpr-MPRA regulatory region 3247 Neighboring gene RABGGTB pseudogene 1 Neighboring gene PHF5A pseudogene 2 Neighboring gene CFAP44 antisense RNA 1 Neighboring gene microRNA 8076 Neighboring gene spindle and centriole associated protein 1 Neighboring gene SID1 transmembrane family member 1 Neighboring gene microRNA 4446

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: SPICE1

Homology

Clone Names

  • FLJ11142, MGC126631, MGC142113, DKFZp781C082

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables peptidase activity 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 cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cilium-dependent cell motility IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acts_upstream_of_or_within microtubule cytoskeleton organization IDA
Inferred from Direct Assay
more info
PubMed 
involved_in sperm axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in motile cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 44
Names
WD repeat domain 52
WD repeat-containing protein 52

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_001164496.2NP_001157968.1  cilia- and flagella-associated protein 44 isoform 1

    See identical proteins and their annotated locations for NP_001157968.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC026329, AK002004, AL133606, BC113553, BM978031, DB050626
    Consensus CDS
    CCDS54624.1
    UniProtKB/Swiss-Prot
    Q96MT7
    UniProtKB/TrEMBL
    Q9NUU0, Q9UF55
    Related
    ENSP00000377428.2, ENST00000393845.9
    Conserved Domains (3) summary
    sd00039
    Location:371419
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:219599
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl25732
    Location:15571833
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_018338.3NP_060808.2  cilia- and flagella-associated protein 44 isoform 2

    See identical proteins and their annotated locations for NP_060808.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' splice pattern with a distinct 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a substantially shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC026348, AK056472, BC113553, DB050626
    Consensus CDS
    CCDS2972.1
    UniProtKB/Swiss-Prot
    Q96MT7
    Related
    ENSP00000295868.2, ENST00000295868.6
    Conserved Domains (3) summary
    COG2319
    Location:118605
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:371419
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:219599
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

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_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    113286930..113441514 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    116007998..116162657 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)