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Gene: DIAPH1 (diaphanous related formin 1) Homo sapiens
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Symbol: DIAPH1
Name: diaphanous related formin 1
Description: Exhibits ion channel binding activity. Involved in several processes, including cellular response to histamine; protein localization to microtubule; and regulation of release of sequestered calcium ion into cytosol. Localizes to the mitotic spindle. Implicated in autosomal dominant nonsyndromic deafness 1 and sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DFNA1; DIA1; diaphanous homolog 1; diaphanous-related formin 1; diaphanous-related formin-1; DRF1; FLJ25265; hDIA1; LFHL1; SCBMS
Orthologs:
Mus musculus (house mouse) : Diaph1 (diaphanous related formin 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Diaph1 (diaphanous-related formin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Diaph1 (diaphanous related formin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : DIAPH1 (diaphanous related formin 1)
Canis lupus familiaris (dog) : DIAPH1 (diaphanous related formin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Diaph1 (diaphanous related formin 1)
Sus scrofa (pig) : DIAPH1 (diaphanous related formin 1)
Chlorocebus sabaeus (green monkey) : DIAPH1 (diaphanous related formin 1)
Heterocephalus glaber (naked mole-rat) : Diaph1 (diaphanous related formin 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl5141,515,016 - 141,619,055 (-)Ensembl
GRCh385141,515,016 - 141,619,055 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375140,894,588 - 140,998,622 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,874,772 - 140,978,747 (-)NCBINCBI36hg18NCBI36
Build 345140,874,772 - 140,978,691NCBI
Celera5136,971,324 - 137,075,350 (-)NCBI
Cytogenetic Map5q31.3NCBI
HuRef5136,039,428 - 136,143,262 (-)NCBIHuRef
CHM1_15140,327,865 - 140,431,904 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on DIAPH1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1321771
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.