HAUS7 (HAUS augmin like complex subunit 7)

2014-11-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
UCHL5IP,UIP1
FUSION GENES

Other Information

Locus ID:

NCBI: 55559
MIM: 300540
HGNC: 32979
Ensembl: ENSG00000213397

Variants:

dbSNP: 55559
ClinVar: 55559
TCGA: ENSG00000213397
COSMIC: HAUS7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213397ENST00000370210A6NDA1
ENSG00000213397ENST00000370211Q99871
ENSG00000213397ENST00000435662H7BZF8
ENSG00000213397ENST00000626181A6NDA1

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Cilium AssemblyREACTOMER-HSA-5617833
Anchoring of the basal body to the plasma membraneREACTOMER-HSA-5620912
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
Mitotic G2-G2/M phasesREACTOMER-HSA-453274
G2/M TransitionREACTOMER-HSA-69275
Regulation of PLK1 Activity at G2/M TransitionREACTOMER-HSA-2565942
Centrosome maturationREACTOMER-HSA-380287
Recruitment of mitotic centrosome proteins and complexesREACTOMER-HSA-380270
Loss of proteins required for interphase microtubule organization from the centrosomeREACTOMER-HSA-380284
Loss of Nlp from mitotic centrosomesREACTOMER-HSA-380259
AURKA Activation by TPX2REACTOMER-HSA-8854518

References

Pubmed IDYearTitleCitations
290179652018A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.6
290179652018A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.6
112786052001Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes.42
112786052001Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes.42

Citation

Dessen P

HAUS7 (HAUS augmin like complex subunit 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64179/haus7-(haus-augmin-like-complex-subunit-7)