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FLASH GENE

Symbol

DNAH11

contributors: mct - updated : 24-01-2016

HGNC name	dynein, axonemal, heavy chain 11
HGNC id	2942

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ICS7 immotile cilia syndrome 7
Location	7p15.3      Physical location : 21.582.832 - 21.941.455
Synonym name	dynein, ciliary, heavy chain 11
	dynein, axonemal, heavy polypeptide 11
	dynein, heavy chain beta-like
Synonym symbol(s)	DNHBL, DNAHBL, DPL11, DNAHC11, FLJ37699, FLJ30095

DNA

TYPE	functioning gene
STRUCTURE	359.00 kb     82 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001277115 82 - 13876 NP_001264044 - 4516 - 1997 : 932506

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive male system testis       Respiratory lung       predominantly Homo sapiens   nose

cells

System Cell Pubmed Species Stage Rna symbol Reproductive germ cell Respiratory ciliari cell Respiratory epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal stem binding cargo
	a lead (motor) domain terminating in a microtubule binding site

HOMOLOGY

interspecies

ortholog to murine Dnahc11 (84 pc)

Homologene

FAMILY

dynein heavy chain family

CATEGORY

motor/contractile , transport

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule
text	cilia in respiratory tract
	flagella of spermatozoa
	localizes proximally in the cilia

basic FUNCTION	outer dynein arm heavy chain having ATPase activity
	involved in intracellular movement of organelles and vesicles or in the orientation of the mitotic spindle apparatus
	axonemal DNAH11 assembly is independent of other axonemal dynein heavy chains such as DNAH5 and DNAH9 and that the cytoplasmic preassembly of DNAH11 is not dependent on the function of DNAAFs, such as DNAAF1 and DNAAF2

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense , reproduction/sex , cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

tubulin

cell & other

microtubules

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ICS7

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

inversus viscerum mouse, mutated at the outer arm dynein heavy chain 11 locus (Dnahc11) is a known model of heterotaxy