1. Gene
  2. DYNC1I1 - dynein cytoplasmic 1 intermediate chain 1 Gene

DYNC1I1 - dynein cytoplasmic 1 intermediate chain 1 Gene

中文名称:动力蛋白细胞质 1 中间链 1

种属: Homo sapiens

同用名: DNCI1; DNCIC1

基因 ID: 1780 | 基因类型: protein coding

关于 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.

功能概要

启用血影蛋白结合活动。参与沿微管的囊泡运输。位于多个细胞成分中,包括着丝粒;回收核内体;和主轴杆。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

Dynein_IC2

Dynein_IC2: Cytoplasmic dynein 1 intermediate chain 2 (142 - 173)

WD40

WD40: WD domain, G-beta repeat (479 - 517)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 645 a.a.
蛋白主名 其他名称

cytoplasmic dynein 1 intermediate chain 1

DH IC-1

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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