• THAT   AND
  • THAT   AND


Sequence in raw or FASTA format:

Database:

Blast Method:

 
 


USH1G Usher syndrome 1G (autosomal recessive) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001282489 Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $549.00 14
NM_173477 Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $509.00 $460.00 12

*Business Day

Related Services

Gene Symbol USH1G
Entrez Gene ID 124590
Full Name Usher syndrome 1G (autosomal recessive)
Synonyms ANKS4A, SANS
General protein information
Preferred Names
Usher syndrome type-1G protein
Names
Usher syndrome type-1G protein
scaffold protein containing ankyrin repeats and SAM domain
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

17

17q25.1

Summary This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013].
Disorder

MIM: 607696

Usher syndrome, type 1G, 606943 (3)

mRNA Protein Product Sequence Price Select
NM_001282489, 597709781 NP_001269418, 542133068 Usher syndrome type-1G protein isoform 2 ORF Sequence $400.00
NM_173477, 597709782 NP_775748, 34304383 Usher syndrome type-1G protein isoform 1 ORF Sequence $360.00
Homo sapiens (human)USH1GNP_775748.2
Pan troglodytes (chimpanzee)USH1GXP_523715.2
Canis lupus familiaris (dog)USH1GXP_852112.2
Bos taurus (cattle)USH1GNP_001179631.1
Mus musculus (house mouse)Ush1gNP_789817.1
Rattus norvegicus (Norway rat)Ush1gNP_001099320.1
Gallus gallus (chicken)USH1GXP_426242.2
Danio rerio (zebrafish)LOC100330314XP_002661315.1
Drosophila melanogaster (fruit fly)SansNP_788340.1
Xenopus (Silurana) tropicalis (western clawed frog)ush1gXP_002939606.1
Process
IDNameEvidence
GO:0007605sensory perception of soundIMP
GO:0042472inner ear morphogenesisIEA
GO:0045494photoreceptor cell maintenanceIMP
GO:0050953sensory perception of light stimulusIMP
GO:0050957equilibrioceptionIMP
GO:0060113inner ear receptor cell differentiationIEA
Component
IDNameEvidence
GO:0005829cytosolIEA
GO:0005886plasma membraneIEA
GO:0015629actin cytoskeletonISS
Function
IDNameEvidence
GO:0005515protein bindingIPI
GO:0030507spectrin bindingIDA
GO:0042803protein homodimerization activityIEA
GeneCards USH1G
PDB 3K1R, 3PVL, 2L7T
UniProt B4DL95, Q495M9
Vega OTTHUMG00000178864
MIM 607696
Ensembl ENSG00000182040
HGNC 16356
HPRD 09648

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the USH1G gene?

The USH1G gene provides instructions for making a protein called SANS. This protein is found in cells of the inner ear and the part of the eye that detects light and color (the retina). SANS interacts with other proteins, forming a larger protein complex that is critical for the development and function of the retina and inner ear.

In the inner ear, SANS promotes the proper development and maintenance of the hair bundles, tufts of hairlike projections on cells lining the inner ear. These hairlike projections, called stereocilia, bend in response to sound waves and transmit signals to the brain.

In the retina, SANS probably plays a role in the formation and maintenance of specialized retinal cells that detect light and color (photoreceptor cells).

Interactant

Our customer service representatives are available 24 hours a day, Monday through Friday; please contact us anytime for assistance.