HAUS7 (HAUS augmin like complex subunit 7)

2014-11-01  

Identity

HGNC
HAUS7
LOCATION
Xq28
LOCUSID
55559
ALIAS
UCHL5IP,UIP1
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
112786052001Structure and expression of the TREX1 and TREX2 3' --> 5' exonuclease genes.35
290179652018A novel mutation in HAUS7 results in severe oligozoospermia in two brothers.1

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