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  2. RAB3IP - RAB3A interacting protein Gene

RAB3IP - RAB3A interacting protein Gene

中文名称:RAB3A 相互作用蛋白

种属: Homo sapiens

同用名: RABIN3; RABIN8

基因 ID: 117177 | 基因类型: protein coding

关于 RAB3IP

Cytogenetic location: 12q15 Genomic coordinates (GRCh38): 12:69,738,242-69,823,204 (from NCBI)

This gene has 18 transcripts (splice variants), 209 orthologues and 1 paralogue. Broad expression in brain (RPKM 6.7), kidney (RPKM 6.6) and 24 other tissues.

功能概要

启用胍基核苷酸交换因子活性和相同的蛋白质结合活性。参与纤毛组装;蛋白质定位于细胞器;和蛋白质靶向膜。位于中心体;胞质溶胶;和核。 [由基因组资源联盟提供,2022 年 4 月]

Enables guanyl-nucleotide exchange factor activity and identical protein binding activity. Involved in cilium assembly; protein localization to organelle; and protein targeting to membrane. Located in centrosome; cytosol; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]

RAB3IP 基因产物(6)

mRNA Protein Name
NM_001024647.3 NP_001019818.1 rab-3A-interacting protein isoform A
NM_001278402.1 NP_001265331.1 rab-3A-interacting protein isoform A
NM_022456.5 NP_071901.2 rab-3A-interacting protein isoform alpha 1
NM_175623.4 NP_783322.1 rab-3A-interacting protein isoform alpha 2
NM_175624.4 NP_783323.1 rab-3A-interacting protein isoform beta 1
NM_175625.4 NP_783324.1 rab-3A-interacting protein isoform beta 2

RAB3IP 蛋白结构

Sec2p

Sec2p: GDP/GTP exchange factor Sec2p (187 - 267)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
蛋白主名 其他名称

rab-3A-interacting protein

SSX2 interacting protein

关联疾病

疾病名称 别名
Joubert Syndrome 30

JBTS30

Joubert Syndrome, Type 30

Orofaciodigital Syndrome I

OFD1

Orofaciodigital Syndrome 1

Oral-Facial-Digital Syndrome, Type I

Oral-Facial-Digital Syndrome 1

Ofds I

Papillon-Leage And Psaume Syndrome

Papillon-Leage-Psaume Syndrome

Oral-Facial-Digital Syndrome Type 1

Orofaciodigital Syndrome Type 1

Orofaciodigital Syndromes

Orofaciodigital Syndrome Type I

Oral-Facial-Digital Syndrome Type I

Ofd Syndrome 1

Ofds 1

Oral Facial Digital Syndrome 1

Oral Facial Digital Syndrome Type 1

Papillon-League-Psaume Syndrome

Ofdi

Ofdsi

Orofaciodigital Syndrome, Type I

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Nephronophthisis 15

NPHP15

Nephronophthisis, Type 15

Carpenter Syndrome 1

Carpenter Syndrome

Acrocephalopolysyndactyly Type Ii

Acps Ii

CRPT1

Acrocephalopolysyndactyly Type 2

Acrocephalosyndactyly, Type Ii

Acrocephalopolysyndactyly 2

Acps2

Acps 2

Type Ii Acrocephalosyndactyly

Carpenter Syndrome, Type 1

Apert-Crouzon Disease

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy

CORD2

Cone-Rod Retinal Dystrophy

Rcrd2

Cone-Rod Retinal Dystrophy 2

Crd2

Cord

Crd

Retinal Cone-Rod Dystrophy

Cone-Rod Retinal Dystrophy-2

Retinal Cone-Rod Dystrophy 2

Tapetoretinal Degeneration

Cone-Rod Degeneration

Cone Rod Dystrophy

Dystrophy, Cone-Rod

Dystrophy, Cone-Rod, Type 2

Retinitis Pigmentosa

Retinitis Pigmentosa 2

Progressive Cone-Rod Dystrophy

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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
Bos taurus RAB3IP VGNC VGNC:56227
Rattus norvegicus RAB3IP RGD RGD:620650
Mus musculus RAB3IP MGD MGI:105933
Canis familiaris RAB3IP VGNC VGNC:54536