DIAPH1 (Q17913996)

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protein-coding gene in the species Homo sapiens

DFNA1
DIA1
DRF1
LFHL1
hDIA1
SCBMS
diaphanous related formin 1
mDia1

Language	Label	Description	Also known as
English	DIAPH1	protein-coding gene in the species Homo sapiens	DFNA1 DIA1 DRF1 LFHL1 hDIA1 SCBMS diaphanous related formin 1 mDia1

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

protein-coding gene

1 reference

Ensembl Release 87

Ensembl gene ID

ENSG00000131504

Protein DIAPH1 PDB 1v9d.png
863 × 777; 587 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

Diaphanous related formin 1

1 reference

6 July 2017

UniProt protein ID

Protein diaphanous homolog 1

1 reference

UniProt protein ID

22 March 2016

language of work or name

genetic association

1 reference

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000131504/MONDO_0014714

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 5

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

141515016

human chromosome 5

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

140894583

human chromosome 5

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

141619055

human chromosome 5

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

140998622

human chromosome 5

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

cytogenetic location

5q31.3

1 reference

10 April 2022

gene deletion association with

1 reference

Homozygous loss of DIAPH1 is a novel cause of microcephaly in humans

129567

1 reference

10 April 2022

Gene Atlas image

PBB GE DIAPH1 215541 s at fs.png
732 × 530; 12 KB

0 references

PBB GE DIAPH1 209190 s at fs.png
732 × 530; 11 KB

0 references

PBB GE DIAPH1 213514 s at fs.png
732 × 530; 11 KB

0 references

1 reference

HomoloGene build68

129567

1 reference

HomoloGene build68

129567

Drosophila melanogaster

1 reference

HomoloGene build68

129567

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

Achilles tendon

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

right lobe of liver

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

gastrocnemius muscle

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

upper lobe of left lung

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

body of pancreas

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

islet of Langerhans

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000131504

http://identifiers.org/ncbigene/1729

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

Ensembl gene ID

ENSG00000131504

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

Ensembl transcript ID

ENST00000524301

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000389054

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000448451

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000468119

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000472516

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000476339

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000491754

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000494967

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000518047

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000518484

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000523100

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000643312

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000647433

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000643718

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

ENST00000647330

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000131504

0 references

HGNC gene symbol

1 reference

10 April 2022

1 reference

10 April 2022

Microsoft Academic ID

0 references

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(6 entries)

arwiki DIAPH1
arzwiki DIAPH1
cywiki DIAPH1
enwiki DIAPH1
ttwiki DIAPH1
ukwiki DIAPH1

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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