CEP112
entrez
201134
canonical
uniprot
Q8N8E3
canonical
ensembl
ENSG00000154240
resolver
ensp
ENSP00000320592
resolver
ensp
ENSP00000376522
resolver
ensp
ENSP00000440775
resolver
ensp
ENSP00000442784
resolver
ensp
ENSP00000529282
resolver
ensp
ENSP00000529283
resolver
ensp
ENSP00000529284
resolver
ensp
ENSP00000783460
resolver
enst
ENST00000537949
resolver
enst
ENST00000859223
resolver
genesymbol
CEP112
resolver
genesymbol_syn
CCDC46
resolver
hgnc
HGNC:28514
resolver
uniprot
F5GYE8
resolver
uniprot
Q6PIB5
resolver
uniprot
Q8NCR4
resolver
uniprot
Q8NFR4
resolver
uniprot_entry
CE112_HUMAN
resolver
uniprot_entry
F5GYE8_HUMAN
resolver
uniprot_sec
Q6PIB5
resolver
uniprot_sec
Q8NCR4
resolver
uniprot_sec
Q8NFR4
resolver
amino_acid_sequence
MEVGSEEEKWEKLDAEFDHFVVDMKPFVLKLPHRTERQRCALWIRKLCEPSGTGAGIMGRKNRNLYAKLLLHMLKRGALEGPFTHRPEPGTLKILPSYMSIYFDEPNPARAKGSSPEGLPAWVLGELETSEHKLNESWKLSSGEDNTLVQSPTDVYSREQYTGKLRVRSHSLSPTHREDGQNITPKICEVYSKKSPVSLDDSDIEARLNSWNLGIENPRYLRQKPIPVSLMTPKFSLRKSSSFHDDHFLSRIREKELDMKTKMMEAKFHEEKLKLQQKHDADVQKILERKNNEIEELKTLYRSKQHETEETIRKLEKKVQTLIRDCQVIRETKEDQIAELKKICEQSTESLNNDWEKKLHNAVAEMEQEKFDLQKQHTENIQELLEDTNVRLNKMESEYMAQTQSTNHMIKELEARVQQLTGEAENSNLQRQKLIQEKAELERCYQITCSELQEVKARRNTLHKEKDHLVNDYEQNMKLLQTKYDADINLLKQEHALSASKASSMIEELEQNVCQLKQQLQESELQRKQQLRDQENKFQMEKSHLKHIYEKKAHDLQSELDKGKEDTQKKIHKFEEALKEKEEQLTRVTEVQRLQAQQADAALEEFKRQVELNSEKVYAEMKEQMEKVEADLTRSKSLREKQSKEFLWQLEDIRQRYEQQIVELKLEHEQEKTHLLQQHNAEKDSLVRDHEREIENLEKQLRAANMEHENQIQEFKKRDAQVIADMEAQVHKLREELINVNSQRKQQLVELGLLREEEKQRATREHEIVVNKLKAESEKMKIELKKTHAAETEMTLEKANSKLKQIEKEYTQKLAKSSQIIAELQTTISSLKEENSQQQLAAERRLQDVRQKFEDEKKQLIRDNDQAIKVLQDELENRSNQVRCAEKKLQHKELESQEQITYIRQEYETKLKGLMPASLRQELEDTISSLKSQVNFLQKRASILQEELTTYQGRR
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 44 (SPGF44) [MIM:619044]: An autosomal recessive infertility disorder caused by spermatogenesis defects and characterized by the presence of acephalic spermatozoa in the semen of affected individuals. {ECO:0000269|PubMed:31654588, ECO:0000269|PubMed:39349455}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Recruits mRNAs essential for sperm development, such as CFAP61 and FSIP2 mRNAs, into phase-separated condensates, thereby regulating their translation through a mechanism of liquid-liquid phase separation. {ECO:0000269|PubMed:39349455}.
uniprot
proteins
mass_dalton
112749
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
21399614
uniprot
proteins
pubmed
31654588
uniprot
proteins
pubmed
39349455
uniprot
proteins
sequence_length
955
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:21399614}. Nucleus {ECO:0000269|PubMed:39349455}. Cytoplasm {ECO:0000269|PubMed:39349455}. Cytoplasm, Cytoplasmic ribonucleoprotein granule {ECO:0000269|PubMed:39349455}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:39349455}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:39349455}. Note=In spermatogonia and early spermatocytes, CEP112 has diffuse localization in both the cytoplasm and nucleus. As cells progress to the round spermatid stage, it begins to concentrate in distinct cytoplasmic foci. In elongating spermatids, these foci become more pronounced and localized primarily to the cytoplasm, often in close proximity to the developing acrosome and manchette. In mature spermatozoa, is localized to the neck region, atypical centrioles and the base of the axoneme. {ECO:0000269|PubMed:39349455}.
uniprot
proteins