Gene Symbol |
HORMAD1
|
Entrez Gene |
84072
|
Alt Symbol |
CT46, NOHMA
|
Species |
Human
|
Gene Type |
protein-coding
|
Description |
HORMA domain containing 1
|
Other Description |
HORMA domain-containing protein 1|cancer/testis antigen 46|newborn ovary HORMA protein
|
Swissprots |
Q5T5I3 Q86X24 Q4G114 Q6FIC1 Q5T5I5 Q5T5I4 B3KUK1 A6NMK2 Q9H0K8
|
Accessions |
CBH30631 EAW53520 EAW53521 EAW53522 EAW53523 EAW53524 EAW53525 Q86X24 AA991355 AK097390 BAG53463 AK098633 AL136755 CAB66689 AM392561 CAL37439 AM392979 CAL37857 AY626344 AAT45740 BC033014 AAH33014 BC047406 AAH47406 BU570274 CR533505 CAG38536 XM_006711569 XP_006711632 XM_006711570 XP_006711633 XM_006711571 XP_006711634 XM_011510053 XP_011508355 XM_011510054 XP_011508356 XM_011510055 XP_011508357 XM_011510056 XP_011508358 NM_001199829 NP_001186758 NM_032132 NP_115508
|
Function |
Plays a key role in meiotic progression. Regulates 3 different functions during meiosis: ensures that sufficient numbers of processed DNA double-strand breaks (DSBs) are available for successful homology search by increasing the steady-state numbers of single-stranded DSB ends. Promotes synaptonemal-complex formation independently of its role in homology search. Plays a key role in the male mid-pachytene checkpoint and the female meiotic prophase checkpoint: required for efficient build-up of ATR activity on unsynapsed chromosome regions, a process believed to form the basis of meiotic silencing of unsynapsed chromatin (MSUC) and meiotic prophase quality control in both sexes (By similarity). {ECO:0000250}.
|
Subcellular Location |
Nucleus {ECO:0000250}. Chromosome {ECO:0000250}. Note=Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes. The expression of the phosphorylated form at Ser-377 is restricted to unsynapsed chromosomal regions (By similarity). {ECO:0000250}.
|
Tissue Specificity |
Testis-specific. Over-expressed in carcinomas. {ECO:0000269|PubMed:15999985}.
|