Movatterモバイル変換

[0]ホーム

Jump to content

DNAH1

Edit links

From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

DNAH1

Identifiers

Aliases

DNAH1, DNAHC1, HDHC7, HL-11, HL11, HSRF-1, XLHSRF-1, dynein axonemal heavy chain 1, SPGF18, CILD37

External IDs

OMIM:603332;MGI:107721;HomoloGene:67131;GeneCards:DNAH1;OMA:DNAH1 - orthologs

Gene location (Human)

Chr.	Chromosome 3 (human)^[1]

Band	3p21.1	Start	52,316,319bp^[1]
Band	3p21.1	End	52,400,492bp^[1]

Gene location (Mouse)

Chr.	Chromosome 14 (mouse)^[2]

Band	14 B\|14 19.1 cM	Start	30,982,332bp^[2]
Band	14 B\|14 19.1 cM	End	31,045,853bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

right uterine tube

bronchial epithelial cell

granulocyte

left testis

right testis

olfactory zone of nasal mucosa

right lobe of liver

right frontal lobe

bone marrow cell

tendon of biceps brachii

Top expressed in

spermatocyte

arcuate nucleus

seminiferous tubule

spermatid

supraoptic nucleus

median eminence

paraventricular nucleus of hypothalamus

ventromedial nucleus

vas deferens

dorsomedial hypothalamic nucleus

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	microtubule motor activity nucleotide binding ATPase activity cytoskeletal motor activity ATP binding minus-end-directed microtubule motor activity dynein light chain binding dynein intermediate chain binding dynein light intermediate chain binding
Cellular component	cytoplasm inner dynein arm cell projection cilium axonemal dynein complex microtubule cytoskeleton dynein complex axoneme motile cilium sperm flagellum extracellular region
Biological process	microtubule-based movement inner dynein arm assembly cilium-dependent cell motility cilium movement sperm axoneme assembly epithelial cilium movement involved in extracellular fluid movement flagellated sperm motility cilium movement involved in cell motility
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


25981


110084

Ensembl


ENSG00000114841


ENSMUSG00000019027

UniProt


Q9P2D7


E9Q8T7

RefSeq (mRNA)


NM_015512


NM_001033668

RefSeq (protein)


NP_056327


NP_001028840

Location (UCSC)

Chr 3: 52.32 – 52.4 Mb

Chr 14: 30.98 – 31.05 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Dynein axonemal heavy chain 1 is aprotein that in humans is encoded by the DNAH1gene.^[5]

Function

[edit]

This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017].

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000114841 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000019027 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Entrez Gene: Dynein axonemal heavy chain 1". Retrieved2017-11-06.

Zuccarello D, Ferlin A, Cazzadore C, Pepe A, Garolla A, Moretti A, Cordeschi G, Francavilla S, Foresta C (2008)."Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia".Hum. Reprod.23 (8):1957–62.doi:10.1093/humrep/den193.PMID 18492703.
Lehmann M, Milev MP, Abrahamyan L, Yao XJ, Pante N, Mouland AJ (2009)."Intracellular transport of human immunodeficiency virus type 1 genomic RNA and viral production are dependent on dynein motor function and late endosome positioning".J. Biol. Chem.284 (21):14572–85.doi:10.1074/jbc.M808531200.PMC 2682905.PMID 19286658.
Skånland SS, Wälchli S, Brech A, Sandvig K (2009)."SNX4 in complex with clathrin and dynein: implications for endosome movement".PLOS ONE.4 (6) e5935.Bibcode:2009PLoSO...4.5935S.doi:10.1371/journal.pone.0005935.PMC 2691479.PMID 19529763.
Ben Khelifa M, Coutton C, Zouari R, Karaouzène T, Rendu J, Bidart M, Yassine S, Pierre V, Delaroche J, Hennebicq S, Grunwald D, Escalier D, Pernet-Gallay K, Jouk PS, Thierry-Mieg N, Touré A, Arnoult C, Ray PF (2014)."Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella".Am. J. Hum. Genet.94 (1):95–104.doi:10.1016/j.ajhg.2013.11.017.PMC 3882734.PMID 24360805.
Imtiaz F, Allam R, Ramzan K, Al-Sayed M (2015)."Variation in DNAH1 may contribute to primary ciliary dyskinesia".BMC Med. Genet.16: 14.doi:10.1186/s12881-015-0162-5.PMC 4422061.PMID 25927852.
Wang X, Jin H, Han F, Cui Y, Chen J, Yang C, Zhu P, Wang W, Jiao G, Wang W, Hao C, Gao Z (2017)."Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese".Clin. Genet.91 (2):313–321.doi:10.1111/cge.12857.PMID 27573432.

This article on agene on humanchromosome 3 is astub. You can help Wikipedia byexpanding it.

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

Retrieved from "https://en.wikipedia.org/w/index.php?title=DNAH1&oldid=1313784300"

Categories:

Hidden categories:

[8]ページ先頭

Movatterモバイル変換

Function

References

Further reading