RAB23 - RAB23, member RAS oncogene family Gene

中文名称：RAB23，RAS 致癌基因家族成员

种属: Homo sapiens

同用名: HSPC137

基因 ID: 51715 | 基因类型: protein coding

关于 RAB23

Cytogenetic location: 6p12.1-p11.2 Genomic coordinates (GRCh38): 6:57,186,992-57,222,307 (from NCBI)

This gene has 2 transcripts (splice variants), 218 orthologues, 68 paralogues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 23.9), urinary bladder (RPKM 18.7) and 20 other tissues.

功能概要

该基因编码 Ras 超家族的一个小 GTPase。 Rab 蛋白参与调节与细胞内膜运输相关的多种细胞功能，包括自噬和对细菌感染的免疫反应。编码的蛋白质可能通过拮抗 sonic Hedgehog 信号传导在中枢神经系统发育中发挥作用。该基因的破坏与 Carpenter 综合征和癌症有关。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a small GTPase of the Ras superfamily. Rab proteins are involved in the regulation of diverse cellular functions associated with intracellular membrane trafficking, including Autophagy and immune response to Bacterial infection. The encoded protein may play a role in central nervous system development by antagonizing sonic Hedgehog signaling. Disruption of this gene has been implicated in Carpenter syndrome as well as Cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

RAB23 基因产物(5)

mRNA	Protein	Name
NM_001278666.2	NP_001265595.1	ras-related protein Rab-23
NM_001278667.2	NP_001265596.1	ras-related protein Rab-23
NM_001278668.2	NP_001265597.1	ras-related protein Rab-23
NM_016277.5	NP_057361.3	ras-related protein Rab-23
NM_183227.3	NP_899050.1	ras-related protein Rab-23

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables GTPase activity	IDA IDA: 通过直接分析推断	17646400	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17646400	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in GTP metabolic process	IDA IDA: 通过直接分析推断	22365972	GOA
involved in autophagosome assembly	IMP IMP: 通过突变表型推断	22452336	GOA
involved in cellular defense response	IMP IMP: 通过突变表型推断	22452336	GOA
involved in cilium assembly	IMP IMP: 通过突变表型推断	17646400	GOA
involved in craniofacial suture morphogenesis	IMP IMP: 通过突变表型推断	17503333	GOA
involved in negative regulation of protein import into nucleus	IMP IMP: 通过突变表型推断	22365972	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in autophagosome	IDA IDA: 通过直接分析推断	22452336	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	22365972	GOA
located in phagocytic vesicle	IDA IDA: 通过直接分析推断	21255211	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	17646400	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RAB23 蛋白结构

Ras

0
100
200
237 a.a.

蛋白主名

其他名称

ras-related protein Rab-23

RAB family small GTP binding protein RAB 23

关联疾病

疾病名称

别名

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

Synostosis

Uveoparotid Fever

Heerfordt'S Syndrome

Chromosome 2q35 Duplication Syndrome

Syndactyly	Syndactyly Type 1
Sdty1	Zygodactyly
Syndactyly, Type I	Sd1
Syndactyly, Type 1, With Or Without Craniosynostosis	Symphalangism
Non-Syndromic Syndactyly	Symphalangy
Webbing Of Digits	Syndactyly, Type 1

Syndactyly, Type Iii

Syndactyly Type 3	SDTY3
Ring And Little Finger Syndactyly	Syndactyly Of Fingers Iv And V
Syndactyly Of Fingers 4 And 5	Ringand Little Finger Syndactyly
Syndactyly Of Fingers Four And Five	Syndactyly Of The Ring And Little Finger
Sd3	Syndactyly 3
Syndactyly Type Iii	4-5 Finger Syndactyly
Syndactyly, Type 3

Apert Syndrome

Acrocephalosyndactyly Type I	Acs1
Acrocephalosyndactylia	Acrocephalosyndactyly
Acs I	Apert-Crouzon Disease
Acrocephalosyndactyly Type 1	Acrocephalosyndactyly, Type I
Acs 1	Acrocephalo-Syndactyly Type 1
Syndactylic Oxycephaly	Apert'S Syndrome
Type I Acrocephalosyndactyly	APRS

Brachydactyly

Muenke Syndrome

Muenke Nonsyndromic Coronal Craniosynostosis	Fgfr3-Related Craniosynostosis
Fgfr3-Associated Coronal Synostosis	Coronal Craniosynostosis
MNKES	Syndrome Of Coronal Craniosynostosis
MNKS	Fgfr3-Related Isolated Coronal Synostosis
Muenke Non-Syndromic Coronal Craniosynostosis

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Polydactyly

Non-Syndromic Polydactyly	Polydactyly, Postaxial
Postaxial Polydactyly	Supernumerary Digit
Extra Digits	Hyperdactyly
Polydactylia	Polydactylism
Supernumerary Digits

Holoprosencephaly 5

HPE5	Holoprosencephaly-5
Holoprosencephaly, Type 5

Hydronephrosis

Stricture Of Ureteropelvic Junction With Hydronephrosis

Hydronephrosis With Ureteral Stricture, Not Elsewhere Classified

Saethre-Chotzen Syndrome

SCS	Acs3
Acs Iii	Chotzen Syndrome
Acrocephaly, Skull Asymmetry, And Mild Syndactyly	Acrocephalosyndactyly Type 3
Acrocephalosyndactyly, Type Iii	Acrocephalosyndactyly Type Iii
Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies	Auralcephalosyndactyly
Acs 3	Acrocephalo-Syndactyly, Type 3
Blepharophimosis,Epicanthus Inversus, And Ptosis 3	Aural Cephalosyndactyly
Kurczynski-Casperson Syndrome	Acrocephalosyndactyly Iii
Dysostosis Craniofacialis With Hypertelorism	Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies
Sakati Syndrome

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Craniosynostosis

Premature Closure Of Cranial Sutures	Craniostenosis
Craniosynostosis Syndrome	Cso
Craniosynostoses	Congenital Ossification Of Cranial Sutures
Congenital Ossification Of Sutures Of Skull	Craniostosis
Imperfect Fusion Of Skull	Congenital Imperfect Closure Skull
Imperfect Closure Skull	Premature Closure Cranium Sutures
Deficiency Of Craniofacial Axis

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11533	RAB23 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	RAB23	VGNC	VGNC:45263
Bos taurus	RAB23	VGNC	VGNC:33630
Macaca mulatta	RAB23	VGNC	VGNC:81523
Mus musculus	RAB23	MGD	MGI:99833
Rattus norvegicus	RAB23	RGD	RGD:1306867

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