DYNC1I1 - dynein cytoplasmic 1 intermediate chain 1 Gene

Homo sapiens

Also known as DNCI1; DNCIC1

Gene ID: 1780 | Gene type: protein coding

About DYNC1I1

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:95,772,554-96,110,322 (from NCBI)

This gene has 12 transcripts (splice variants), 257 orthologues and 7 paralogues. Biased expression in brain (RPKM 14.7), adrenal (RPKM 3.3) and 4 other tissues.

Summary

Enables spectrin binding activity. Involved in vesicle transport along microtubule. Located in several cellular components, including kinetochore; recycling endosome; and spindle pole. [provided by Alliance of Genome Resources, Apr 2022]

DYNC1I1 Products(5)

mRNA	Protein	Name
NM_001135556.2	NP_001129028.1	cytoplasmic dynein 1 intermediate chain 1 isoform b
NM_001135557.2	NP_001129029.1	cytoplasmic dynein 1 intermediate chain 1 isoform c
NM_001278421.2	NP_001265350.1	cytoplasmic dynein 1 intermediate chain 1 isoform d
NM_001278422.2	NP_001265351.1	cytoplasmic dynein 1 intermediate chain 1 isoform e
NM_004411.5	NP_004402.1	cytoplasmic dynein 1 intermediate chain 1 isoform a

DYNC1I1 Protein Structure

Dynein_IC2

WD40

0
100
200
300
400
500
600
645 a.a.

Protein Preferred Names

Protein Names

cytoplasmic dynein 1 intermediate chain 1

DH IC-1

Related Diseases

Diseases

Alias

Joubert Syndrome 31

JBTS31

Brugada Syndrome 9

BRGDA9

Brugada Syndrome, Type 9

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive

Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss	SHFM1D
Deafness, Congenital, With Split Hands And Feet	Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss
Congenital Deafness With Split Hands And Feet	Split Hand-Split Foot-Deafness Syndrome
Split Hand-Split Foot-Hearing Loss Syndrome	Congenital Deafness And Split Hands And Feet
Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss	Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Paranoid Personality Disorder

Immunodeficiency 50

Combined Immunodeficiency Due To Moesin Deficiency	IMD50
Immunodeficiency 50, X-Linked Recessive	Cid Due To Moesin Deficiency
Msn-Related Combined Immunodeficiency	X-Linked Moesin-Associated Immunodeficiency
Immunodeficiency 50 X Linked Recessive

Split-Hand/Foot Malformation 4

SHFM4	Split Hand-Foot Malformation 4
Split-Hand/Foot Malformation, Type 4

Citrullinemia, Type Ii, Neonatal-Onset

NICCD	Citrin Deficiency
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Citrullinemia, Type Ii, Neonatal-Onset, With Or Without Failure To Thrive And Dyslipidemia
Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency	Neonatal-Onset Type Ii Citrullinemia
Neonatal Intrahepatic Cholestasis Caused By Citrin Deficiency	Neonatal-Onset Citrullinemia Type 2
Neonatal-Onset Citrullinemia Type Ii	Neonatal-Onset Type 2 Citrullinemia
Adult-Onset Citrullinemia Type 2

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3	EEC3
Eec Syndrome 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3

Split Hand-Foot Malformation

Ectrodactyly	Split-Hand/Foot Malformation
Lobster-Claw Deformity	Split-Hand Deformity
Split Hand Foot Malformation	Shfm
Split Hand Foot Deformity	Split Hand Foot Deformity 1

Lipoid Proteinosis Of Urbach And Wiethe

Lipoid Proteinosis	Urbach-Wiethe Disease
Hyalinosis Cutis Et Mucosae	Lipid Proteinosis
Lipoproteinosis	Urbach Wiethe Disease
Lipoglycoproteinosis	Lipoidosis Cutis Et Mucosae
Lipoidproteinosis	Urbach-Wiethe Lipoid Proteinosis
Urbach-Wiethe Syndrome	LIP
Proteinosis Lipoid

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04083	DYNC1I1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	DYNC1I1	VGNC	VGNC:71952
Rattus norvegicus	DYNC1I1	RGD	RGD:2512
Bos taurus	DYNC1I1	VGNC	VGNC:28270
Canis familiaris	DYNC1I1	VGNC	VGNC:40144
Felis catus	DYNC1I1	VGNC	VGNC:61676
Mus musculus	DYNC1I1	MGD	MGI:107743

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