DNHD1 (dynein heavy chain domain 1)

2014-11-01  

Identity

HGNC
DNHD1
LOCATION
11p15.4
LOCUSID
144132
ALIAS
C11orf47,CCDC35,DHCD1,DNHD1L
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 144132
MIM: 617277
HGNC: 26532
Ensembl: ENSG00000179532

Variants:

dbSNP: 144132
ClinVar: 144132
TCGA: ENSG00000179532
COSMIC: DNHD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179532ENST00000254579Q96M86
ENSG00000179532ENST00000354685Q96M86
ENSG00000179532ENST00000524401E9PM64
ENSG00000179532ENST00000525080J3KTE2
ENSG00000179532ENST00000527143J3QRE5
ENSG00000179532ENST00000532027E9PJT4

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
367688832023New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.2
367688832023New Mutations in DNHD1 Cause Multiple Morphological Abnormalities of the Sperm Flagella.2
349329392022Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.14
349329392022Bi-allelic variants in DNHD1 cause flagellar axoneme defects and asthenoteratozoospermia in humans and mice.14
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

DNHD1 (dynein heavy chain domain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62577/css/humanGenome