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FHDC1 - FH2 domain containing 1 Gene

Also Known as INF1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 85462

About FHDC1

This gene has 1 transcript (splice variant), 221 orthologues and 18 paralogues. Ubiquitous expression in thyroid (RPKM 7.7), prostate (RPKM 5.1) and 24 other tissues.

Summary

Predicted to enable actin binding activity and microtubule binding activity. Involved in Golgi ribbon formation; cilium assembly; and stress fiber assembly. Located in cilium and microtubule. [provided by Alliance of Genome Resources, Apr 2022]

FHDC1 Products (2)

mRNA	Protein	Name
NM_001371116.1	NP_001358045.1	FH2 domain-containing protein 1
NM_033393.3	NP_203751.2	FH2 domain-containing protein 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi ribbon formation	IMP IMP: Inferred from mutant phenotype	26564798	GOA
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	29742020	GOA
involved in stress fiber assembly	IDA IDA: Inferred from direct assay	18815276	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cilium	IDA IDA: Inferred from direct assay	29742020	GOA
located in microtubule	IDA IDA: Inferred from direct assay	18815276	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FHDC1 Protein Structure

FH2

0
200
400
600
800
1000
1143 a.a.

Protein Preferred Names	Protein Names
FH2 domain-containing protein 1	inverted formin-1

Related Diseases

Diseases	Alias
Cerebral Amyloid Angiopathy, Itm2b-Related, 2	Dementia, Familial Danish Fdd Familial Danish Dementia Heredopathia Ophthalmootoencephalica Hooe Cerebellar Ataxia, Cataract, Deafness, And Dementia Or Psychosis Adan Amyloidosis Itm2b-Related Cerebral Amyloid Angiopathy 2 Itm2b Amyloidosis Familial Cerebral Amyloid Angiopathy Itm2b-Related Amyloidosis Itm2b-Related Cerebral Amyloid Angiopathy Familial Dementia, Danish Type Cerebral Amyloid Angiopathy, Itm2b-Related 2 CAA-ITM2B2 Cerebellar Ataxia Cataract Deafness And Dementia Or Psychosis Dementia, Familial, Danish
Developmental And Epileptic Encephalopathy 4	DEE4 Epileptic Encephalopathy, Early Infantile, 4 Eiee4 Early Infantile Epileptic Encephalopathy 4 Stxbp1-Related Early-Onset Encephalopathy Early Myoclonic Encephalopathy Developmental And Epileptic Encephalopathy, 4 Stxbp1 Disorders Stxbp1 Encephalopathy Developmental And Epileptic Encephalopathy, Type 4 Early-Infantile Epileptic Encephalopathy 4 Stxbp1 Encephalopathy With Epilepsy Stxbp1 Epileptic Encephalopathy Stxbp1-Related Developmental And Epileptic Encephalopathy Stxbp1-Related Epileptic Encephalopathy Eme Neonatal Epilepsy With Suppression-Burst Pattern Encephalopathy, Epileptic, Early Infantile, Type 4

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04932	FHDC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	FHDC1	VGNC	VGNC:72598
Canis familiaris	FHDC1	VGNC	VGNC:40869
Felis catus	FHDC1	VGNC	VGNC:107335
Bos taurus	FHDC1	VGNC	VGNC:28997
Rattus norvegicus	FHDC1	RGD	RGD:1311955
Mus musculus	FHDC1	MGD	MGI:2684972
Others	FHDC1	NCBI