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UniProtKB - Q5T655 (CFA58_HUMAN)
Protein
Cilia- and flagella-associated protein 58
Gene
CFAP58
Organism
Homo sapiens (Human)
Status
Functioni
Has an essential role in the assembly and organization of the sperm flagellar axoneme (PubMed:32791035).
Required for the elongation of the primary cilium and sperm flagellar midpiece via modulation of the Notch signaling pathway (By similarity).
By similarity1 PublicationGO - Biological processi
- cilium assembly Source: UniProtKB
- flagellated sperm motility Source: GO_Central
- Notch signaling pathway Source: UniProtKB
- protein localization to motile cilium Source: GO_Central
- sperm axoneme assembly Source: GO_Central
- sperm flagellum assembly Source: UniProtKB
- sperm mitochondrial sheath assembly Source: GO_Central
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | Q5T655 |
SignaLinki | Q5T655 |
Names & Taxonomyi
Protein namesi | Recommended name: Cilia- and flagella-associated protein 58ImportedAlternative name(s): Coiled-coil domain-containing protein 147Curated |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:26676, CFAP58 |
MIMi | 619129, gene |
neXtProti | NX_Q5T655 |
VEuPathDBi | HostDB:ENSG00000120051 |
Subcellular locationi
Cytoskeleton
- centrosome By similarity
Other locations
Note: Localized to the entire flagellum and predominantly concentrated in the midpiece. Co-localizes with ODFP2 at the centrosome (By similarity).By similarity1 Publication
Cytoskeleton
- centrosome Source: UniProtKB
- cytoskeleton Source: GO_Central
Extracellular region or secreted
- extracellular space Source: UniProtKB
Other locations
- sperm flagellum Source: UniProtKB
- sperm midpiece Source: GO_Central
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, Cytoskeleton, FlagellumPathology & Biotechi
Involvement in diseasei
Spermatogenic failure 49 (SPGF49)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive infertility disorder characterized by asthenoteratozoospermia and multiple morphologic abnormalities of the sperm flagella, primarily coiled and short flagella, with markedly reduced or absent motility.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085546 | 108 | S → L in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085209 | 566 – 872 | Missing in SPGF49. 1 PublicationAdd BLAST | 307 | |
Natural variantiVAR_085547 | 619 | R → W in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085548 | 628 | Y → C in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085549 | 674 | A → S in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085210 | 698 – 872 | Missing in SPGF49; results in loss of mutant protein; results in axonemal abnormalities. 1 PublicationAdd BLAST | 175 | |
Natural variantiVAR_085211 | 758 – 872 | Missing in SPGF49; results in loss of mutant protein; results in axonemal abnormalities. 1 PublicationAdd BLAST | 115 |
Keywords - Diseasei
Disease variantOrganism-specific databases
MalaCardsi | CFAP58 |
MIMi | 619144, phenotype |
OpenTargetsi | ENSG00000120051 |
PharmGKBi | PA162381518 |
Miscellaneous databases
Pharosi | Q5T655, Tdark |
Genetic variation databases
BioMutai | CFAP58 |
DMDMi | 74745166 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000274317 | 1 – 872 | Cilia- and flagella-associated protein 58Add BLAST | 872 |
Proteomic databases
EPDi | Q5T655 |
jPOSTi | Q5T655 |
MassIVEi | Q5T655 |
MaxQBi | Q5T655 |
PaxDbi | Q5T655 |
PeptideAtlasi | Q5T655 |
PRIDEi | Q5T655 |
ProteomicsDBi | 64567 |
PTM databases
iPTMneti | Q5T655 |
PhosphoSitePlusi | Q5T655 |
Expressioni
Gene expression databases
Bgeei | ENSG00000120051, Expressed in oocyte and 116 other tissues |
ExpressionAtlasi | Q5T655, baseline and differential |
Genevisiblei | Q5T655, HS |
Organism-specific databases
HPAi | ENSG00000120051, Group enriched (fallopian tube, testis) |
Interactioni
Subunit structurei
Interacts with ODFP2.
By similarityBinary interactionsi
Q5T655
Protein-protein interaction databases
BioGRIDi | 127743, 13 interactors |
IntActi | Q5T655, 7 interactors |
STRINGi | 9606.ENSP00000358718 |
Miscellaneous databases
RNActi | Q5T655, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 106 – 595 | Sequence analysisAdd BLAST | 490 | |
Coiled coili | 642 – 839 | Sequence analysisAdd BLAST | 198 |
Sequence similaritiesi
Belongs to the CFAP58 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QPV7, Eukaryota |
GeneTreei | ENSGT00530000063534 |
HOGENOMi | CLU_006364_0_0_1 |
InParanoidi | Q5T655 |
OMAi | CQDDMRL |
OrthoDBi | 1077673at2759 |
PhylomeDBi | Q5T655 |
TreeFami | TF328680 |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q5T655-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAEEKGGKQV LEESAFEEME RDFQGVLHEL SGDKSLEKFR IEYERLHAVM
60 70 80 90 100
KKSYDNEKRL MAKCRELNAE IVVNSAKVAT ALKLSQDDQT TIASLKKEIE
110 120 130 140 150
KAWKMVDSAY DKEQKAKETI LALKEEIVNL TKLVEQGSGL SMDQHSNIRD
160 170 180 190 200
LLRFKEEVTK ERDQLLSEVV KLRESLAQTT EQQQETERSK EEAEHAISQF
210 220 230 240 250
QQEIQQRQNE ASREFRKKEK LEKELKQIQA DMDSRQTEIK ALQQYVQKSK
260 270 280 290 300
EELQKLEQQL KEQKILNERA AKELEQFQMR NAKLQQENEQ HSLVCEQLSQ
310 320 330 340 350
ENQQKALELK AKEEEVHQMR LDIGKLNKIR EQIHKKLHHT EDQKAEVEQH
360 370 380 390 400
KETLKNQIVG LEREVEASKK QAELDRKAMD ELLRERDILN KNMLKAVNAT
410 420 430 440 450
QKQTDLVKLH EQAKRNLEGE IQNYKDEAQK QRKIIFHLEK ERDRYINQAS
460 470 480 490 500
DLTQKVLMNM EDIKVRETQI FDYRKKIAES EIKLKQQQNL YEAVRSDRNL
510 520 530 540 550
YSKNLVEAQD EITDMKRKLK IMIHQVDELK EDISAKESAL VKLHLEQQRI
560 570 580 590 600
EKEKETLKAE LQKLRQQALE TKHFIEKQEA EERKLLRIIA EADGERLRQK
610 620 630 640 650
KELDQVISER DILGSQLVRR NDELALLYEK IKIQQSVLNK GESQYNQRLE
660 670 680 690 700
DMRILRLEIK KLRREKGILA RSMANVEELR QEFFHMQREL LKERTRCRAL
710 720 730 740 750
EEELENPLNV HRWRKLEASD PNAYELIQKI HTLQKRLISK TEEVVEKELL
760 770 780 790 800
LQEKEKLYME LKHVLARQPG PEAAEQLKLY RRTLHDKKQQ LKVLSSELNM
810 820 830 840 850
YEVQSKEYKY EVEKLTNELQ NLKKKYLAQK RKEQLQKNKD TAPMDNTFLM
860 870
VKPNGPGFTG GGFPLRSTKM TF
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketQ9H4Y4 | Q9H4Y4_HUMAN | Cilia- and flagella-associated prot... | CFAP58 | 92 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_085546 | 108 | S → L in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_030255 | 496 | S → T. Corresponds to variant dbSNP:rs11192036Ensembl. | 1 | |
Natural variantiVAR_085209 | 566 – 872 | Missing in SPGF49. 1 PublicationAdd BLAST | 307 | |
Natural variantiVAR_085547 | 619 | R → W in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085548 | 628 | Y → C in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085549 | 674 | A → S in SPGF49; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_085210 | 698 – 872 | Missing in SPGF49; results in loss of mutant protein; results in axonemal abnormalities. 1 PublicationAdd BLAST | 175 | |
Natural variantiVAR_085211 | 758 – 872 | Missing in SPGF49; results in loss of mutant protein; results in axonemal abnormalities. 1 PublicationAdd BLAST | 115 | |
Natural variantiVAR_030256 | 804 | Q → H. Corresponds to variant dbSNP:rs7087328Ensembl. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL162742 Genomic DNA No translation available. AL355378 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49595.1 BC036225 mRNA Translation: AAH36225.1 BC109126 mRNA Translation: AAI09127.1 AK093227 mRNA Translation: BAC04102.1 |
CCDSi | CCDS31282.1 |
RefSeqi | NP_001008723.1, NM_001008723.1 |
Genome annotation databases
Ensembli | ENST00000369704; ENSP00000358718; ENSG00000120051 |
GeneIDi | 159686 |
KEGGi | hsa:159686 |
MANE-Selecti | ENST00000369704.8; ENSP00000358718.3; NM_001008723.2; NP_001008723.1 |
UCSCi | uc001kyh.3, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AL162742 Genomic DNA No translation available. AL355378 Genomic DNA No translation available. CH471066 Genomic DNA Translation: EAW49595.1 BC036225 mRNA Translation: AAH36225.1 BC109126 mRNA Translation: AAI09127.1 AK093227 mRNA Translation: BAC04102.1 |
CCDSi | CCDS31282.1 |
RefSeqi | NP_001008723.1, NM_001008723.1 |
3D structure databases
SMRi | Q5T655 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 127743, 13 interactors |
IntActi | Q5T655, 7 interactors |
STRINGi | 9606.ENSP00000358718 |
PTM databases
iPTMneti | Q5T655 |
PhosphoSitePlusi | Q5T655 |
Genetic variation databases
BioMutai | CFAP58 |
DMDMi | 74745166 |
Proteomic databases
EPDi | Q5T655 |
jPOSTi | Q5T655 |
MassIVEi | Q5T655 |
MaxQBi | Q5T655 |
PaxDbi | Q5T655 |
PeptideAtlasi | Q5T655 |
PRIDEi | Q5T655 |
ProteomicsDBi | 64567 |
Protocols and materials databases
Antibodypediai | 48984, 103 antibodies from 15 providers |
DNASUi | 159686 |
Genome annotation databases
Ensembli | ENST00000369704; ENSP00000358718; ENSG00000120051 |
GeneIDi | 159686 |
KEGGi | hsa:159686 |
MANE-Selecti | ENST00000369704.8; ENSP00000358718.3; NM_001008723.2; NP_001008723.1 |
UCSCi | uc001kyh.3, human |
Organism-specific databases
CTDi | 159686 |
GeneCardsi | CFAP58 |
HGNCi | HGNC:26676, CFAP58 |
HPAi | ENSG00000120051, Group enriched (fallopian tube, testis) |
MalaCardsi | CFAP58 |
MIMi | 619129, gene 619144, phenotype |
neXtProti | NX_Q5T655 |
OpenTargetsi | ENSG00000120051 |
PharmGKBi | PA162381518 |
VEuPathDBi | HostDB:ENSG00000120051 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QPV7, Eukaryota |
GeneTreei | ENSGT00530000063534 |
HOGENOMi | CLU_006364_0_0_1 |
InParanoidi | Q5T655 |
OMAi | CQDDMRL |
OrthoDBi | 1077673at2759 |
PhylomeDBi | Q5T655 |
TreeFami | TF328680 |
Enzyme and pathway databases
PathwayCommonsi | Q5T655 |
SignaLinki | Q5T655 |
Miscellaneous databases
BioGRID-ORCSi | 159686, 3 hits in 1038 CRISPR screens |
ChiTaRSi | CFAP58, human |
GenomeRNAii | 159686 |
Pharosi | Q5T655, Tdark |
PROi | PR:Q5T655 |
RNActi | Q5T655, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120051, Expressed in oocyte and 116 other tissues |
ExpressionAtlasi | Q5T655, baseline and differential |
Genevisiblei | Q5T655, HS |
Family and domain databases
MobiDBi | Search... |
Entry informationi
Entry namei | CFA58_HUMAN | |
Accessioni | Q5T655Primary (citable) accession number: Q5T655 Secondary accession number(s): D3DRA6, Q8NA27 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 6, 2007 |
Last sequence update: | December 21, 2004 | |
Last modified: | February 23, 2022 | |
This is version 126 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 10
Human chromosome 10: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families