CCDC146
entrez
57639
canonical
uniprot
Q8IYE0
canonical
ensembl
ENSG00000135205
resolver
ensp
ENSP00000285871
resolver
genesymbol
CCDC146
resolver
genesymbol_syn
KIAA1505
resolver
hgnc
HGNC:29296
resolver
uniprot
A8K8X6
resolver
uniprot
Q96MS1
resolver
uniprot
Q9P223
resolver
uniprot_entry
CC146_HUMAN
resolver
uniprot_entry
Q96MS1_HUMAN
resolver
uniprot_sec
A8K8X6
resolver
uniprot_sec
Q9P223
resolver
amino_acid_sequence
MEDSSTDTEKEEEEEKDEKDQEPIYAIVPTINIQDERFVDLSETPAFIFLHELHAMGKLPGTRMAALKAKYTLLHDAVMSTQESEVQLLQNAKRFTEQIQQQQFHLQQADNFPEAFSTEVSKMREQLLKYQNEYNAVKEREFHNQYRLNSLKEEKIIIVKEFEKITKPGEMEKKMKILRESTEELRKEIMQKKLEIKNLREDLASKQKQLLKEQKELEELLGHQVVLKDEVAHHQTIPVQIGKEIEKITRKKVEMEKKKIVLEQEVKTLNDSLKKVENKVSAIVDEKENVIKEVEGKRALLEIKEREHNQLVKLLELARENEATSLTERGILDLNLRNSLIDKQNYHDELSRKQREKERDFRNLRKMELLLKVSWDALRQTQALHQRLLLEMEAIPKDDSTLSERRRELHKEVEVAKRNLAQQKIISEMESKLVEQQLAEENKLLKEQENMKELVVNLLRMTQIKIDEKEQKSKDFLKAQQKYTNIVKEMKAKDLEIRIHKKKKCEIYRRLREFAKLYDTIRNERNKFVNLLHKAHQKVNEIKERHKMSLNELEILRNSAVSQERKLQNSMLKHANNVTIRESMQNDVRKIVSKLQEMKEKKEAQLNNIDRLANTITMIEEEMVQLRKRYEKAVQHRNESGVQLIEREEEICIFYEKINIQEKMKLNGEIEIHLLEEKIQFLKMKIAEKQRQICVTQKLLPAKRSLDADLAVLQIQFSQCTDRIKDLEKQFVKPDGENRARFLPGKDLTEKEMIQKLDKLELQLAKKEEKLLEKDFIYEQVSRLTDRLCSKTQGCKQDTLLLAKKMNGYQRRIKNATEKMMALVAELSMKQALTIELQKEVREKEDFIFTCNSRIEKGLPLNKEIEKEWLKVLRDEEMHALAIAEKSQEFLEADNRQLPNGVYTTAEQRPNAYIPEADATLPLPKPYGALAPFKPSEPGANMRHIRKPVIKPVEI
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 94 (SPGF94) [MIM:620850]: An autosomal recessive, male infertility disorder characterized by reduced progressive sperm motility and multiple morphologic abnormalities of the flagella, including irregularly shaped, short, absent, coiled, and multiple tails. {ECO:0000269|PubMed:38441556}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Essential for sperm flagellum biogenesis and male fertility. {ECO:0000250|UniProtKB:E9Q9F7}.
uniprot
proteins
mass_dalton
112806
uniprot
proteins
pubmed
10819331
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19139490
uniprot
proteins
pubmed
25074808
uniprot
proteins
pubmed
30094225
uniprot
proteins
pubmed
38441556
uniprot
proteins
sequence_length
955
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:25074808, ECO:0000269|PubMed:30094225, ECO:0000269|PubMed:38441556}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:38441556}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:38441556}. Midbody {ECO:0000269|PubMed:38441556}. Note=In sperm cells, was seen localized to only one centriole identified as the mother centriole by co-staining with CEP164 (PubMed:25074808). In other experiments, localization to centrioles in sperm cells was not observed (PubMed:38441556). Localizes to the sperm connecting piece and flagellum during spermiogenesis and to the flagellum in spermatozoa from cauda of the epididymis (By similarity). In sperm cell flagellum, may be associated with tubulin doublets (PubMed:38441556). {ECO:0000250|UniProtKB:E9Q9F7, ECO:0000269|PubMed:25074808, ECO:0000269|PubMed:38441556}.; SUBCELLULAR LOCATION: Note=(Microbial infection) In cells infected with C.trachomatis incM, recruited to the periphery of the pathogen-containing vacuole but recruitment is not dependent on incM. {ECO:0000269|PubMed:30094225}.
uniprot
proteins