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Gene id 126859
Gene Summary    Protein Summary    Diseases    PubMed    

Gene Summary
Gene Symbol AXDND1   Gene   UCSC   Ensembl
Aliases C1orf125
Gene name axonemal dynein light chain domain containing 1
Alternate names axonemal dynein light chain domain-containing protein 1,
Gene location 1q25.2 (48719897: 48712440)     Exons: 10     NC_000019.10

Protein Summary
Protein general information Q5T1B0  

Name: Axonemal dynein light chain domain containing protein 1

Length: 1012  Mass: 118027

Sequence MSLPKTPSTPLNSTSTSESKKLKVSVAKEGTRGLPELKEKKNMVDRSKLLPTSLQNEFIPKEVLLSLTYAANAGP
CPENLLPPKKIKTPKGTLPRLVDHVWHHPVRRNKFKYLIDHPVSLTGAGRDISFLYDVTYAKGQTREKAVCPPHL
ARSLQSHDGVIVPHKPKTLTDTLIPEEFHIVSSTGVSGLECYDDKYTTLLTDSENRLLLFPSMKPNKRVEVAQLN
DVMDTMLERAGVENQEYTGPTKMHKLLHILKKEQTIYNMIFHELIRQVSVDCADRGELLSKVRERYVQMLDQIAR
QMIDFYKDLVTQRVMDQRILEELYNFKHVIEELTRELCLVRAHDVKLTKETEKAHKDLAQALLNAEKNAKIVEEY
HDLYTLQRERMENDMKKLVAERDIWSSATYELALKVIERNRVILARRLYLNEKGWNKYTKHFIILLSNKDTEDLA
LLQKLTQKWRNLVNKLKQEVEQMEESTSETLKIVKDGLIKWQEFFNEKDILSPNKGNIFNSVLLDFKQWQKILNE
KKEEFTGDVLLSKYDTLKIIKHLQENWADIGLGIFNRHKSLEGEMPSERQYMEEIIKNIQKLYKEYEIRINGDNG
YSKILPSLISSLDFCSFKLENLEFPDTPLEEWQEIDEKINEMKSHLDILLNLTGIVPQHIDVDSVSVLQAYIFNM
IQQWLLKIGNEINNGNIELQHHMDELHISMIQWMVNLLILMIPNFTDQDCLLKLEEESAEKHDIGVARLELDAIE
LTRKLYQYSSYLSSCCKGMVTAMALSKSTNSHKNATEDLYEVDKLKKECYEWINTCSCLLSNIKGRKITLLTYEE
IERLLEEEAVKEFIEPEIDESFKEDEEESKEDRKLQEENKERAEEQPSTSTEKEKLIRFIGEDENVHSKPLFETD
VLSSWRESAKQGTLAQKYLEAMAVIEHMQEKLLEVENRARQAEEKFEDAYEKLHHTLIKNKDLEELVMTSRKESK
EEKENQDEREVKEEEEQQEEEEVRSAENSSKSPKKGH
Structural information
Interpro:  IPR019347  
STRING:   ENSP00000356590
Other Databases GeneCards:  AXDND1  Malacards:  AXDND1

Diseases

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Associated diseases References
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract