CCDC34
entrez
91057
canonical
uniprot
Q96HJ3
canonical
ensembl
ENSG00000109881
resolver
ensp
ENSP00000321563
resolver
ensp
ENSP00000330240
resolver
genesymbol
CCDC34
resolver
genesymbol_syn
RAMA3
resolver
hgnc
HGNC:25079
resolver
uniprot
B2R8G2
resolver
uniprot
Q8IX69
resolver
uniprot
Q9H2A6
resolver
uniprot
Q9Y599
resolver
uniprot_entry
CCD34_HUMAN
resolver
uniprot_sec
B2R8G2
resolver
uniprot_sec
Q8IX69
resolver
uniprot_sec
Q9H2A6
resolver
uniprot_sec
Q9Y599
resolver
amino_acid_sequence
MWAAGRWGPTFPSSYAGFSADCRPRSRPSSDSCSVPMTGARGQGLEVVRSPSPPLPLSCSNSTRSLLSPLGHQSFQFDEDDGDGEDEEDVDDEEDVDEDAHDSEAKVASLRGMELQGCASTQVESENNQEEQKQVRLPESRLTPWEVWFIGKEKEERDRLQLKALEELNQQLEKRKEMEEREKRKIIAEEKHKEWVQKKNEQKRKEREQKINKEMEEKAAKELEKEYLQEKAKEKYQEWLKKKNAEECERKKKEKEKEKQQQAEIQEKKEIAEKKFQEWLENAKHKPRPAAKSYGYANGKLTGFYSGNSYPEPAFYNPIPWKPIHMPPPKEAKDLSGRKSKRPVISQPHKSSSLVIHKARSNLCLGTLCRIQR
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 76 (SPGF76) [MIM:620084]: An autosomal recessive male infertility disorder characterized by oligoasthenoteratozoospermia, and abnormally shaped spermatozoa in the semen of affected individuals. Sperm flagella have multiple morphological abnormalities, including short, absent, and irregular caliber flagella. {ECO:0000269|PubMed:34348960}. Note=The disease may be caused by variants affecting the gene represented in this entry.; DISEASE: Note=A chromosomal aberration involving CCDC34 is found in a patient with hamartoma of the retinal pigment epithelium and retina. Translocation t(11;18) (p13;p11.2). {ECO:0000269|PubMed:11173847}.
uniprot
proteins
function
FUNCTION: Involved in spermatogenesis. Has a probable role in anterograde intraflagellar transport which is essential for the formation of sperm flagella. {ECO:0000269|PubMed:34348960}.
uniprot
proteins
mass_dalton
43225
uniprot
proteins
pubmed
10508479
uniprot
proteins
pubmed
11173847
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15334068
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
34348960
uniprot
proteins
sequence_length
373
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum {ECO:0000269|PubMed:34348960}. Note=Mainly located in the mid-piece of sperm flagella. {ECO:0000269|PubMed:34348960}.
uniprot
proteins