1. Gene
  2. SMC3 - structural maintenance of chromosomes 3 Gene

SMC3 - structural maintenance of chromosomes 3 Gene

中文名称:3 号染色体的结构维护

种属: Homo sapiens

同用名: BAM; BMH; HCAP; CDLS3; CSPG6; SMC3L1

基因 ID: 9126 | 基因类型: protein coding

关于 SMC3

Cytogenetic location: 10q25.2 Genomic coordinates (GRCh38): 10:110,567,695-110,606,048 (from NCBI)

This gene has 13 transcripts (splice variants), 213 orthologues, 7 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 37.2), bone marrow (RPKM 22.4) and 25 other tissues.

功能概要

该基因属于 SMC 蛋白的 SMC3 亚家族。编码的蛋白质出现在某些细胞类型中,作为细胞内、核蛋白或分泌蛋白。核形式,称为 3 号染色体的结构维持,是多聚黏附蛋白复合物的一个组成部分,它在有丝分裂期间将姐妹染色单体结合在一起,从而实现适当的染色体分离。通过添加硫酸软骨素链对编码蛋白质进行翻译后修饰,产生分泌型蛋白多糖 bamacan,这是一种丰富的基底膜蛋白。[RefSeq 提供,2008 年 7 月]

This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as structural maintenance of chromosomes 3, is a component of the multimeric cohesin complex that holds together sister chromatids during mitosis, enabling proper chromosome segregation. Post-translational modification of the encoded protein by the addition of chondroitin sulfate chains gives rise to the secreted proteoglycan bamacan, an abundant basement membrane protein. [provided by RefSeq, Jul 2008]

SMC3 基因产物(1)

mRNA Protein Name
NM_005445.4 NP_005436.1 structural maintenance of chromosomes protein 3
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 beta-tubulin binding IDA
IDA: 通过直接分析推断
11590136 GOA
enables dynein complex binding IDA
IDA: 通过直接分析推断
11590136 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9506951 GOA
enables protein heterodimerization activity IPI
IPI: 通过物理相互作用推断
11590136 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitotic spindle assembly IMP
IMP: 通过突变表型推断
11590136 GOA
involved in regulation of DNA replication IMP
IMP: 通过突变表型推断
19907496 GOA
involved in sister chromatid cohesion IMP
IMP: 通过突变表型推断
15917200 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromatin IDA
IDA: 通过直接分析推断
16682347 GOA
part of cohesin complex IDA
IDA: 通过直接分析推断
9789013 GOA
part of meiotic cohesin complex IDA
IDA: 通过直接分析推断
21242291 GOA
part of mitotic cohesin complex IPI
IPI: 通过物理相互作用推断
23242214 GOA
located in mitotic spindle pole IDA
IDA: 通过直接分析推断
11590136 GOA
located in nuclear matrix IDA
IDA: 通过直接分析推断
11590136 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

SMC3 蛋白结构

SMC_N

SMC_N: RecF/RecN/SMC N terminal domain (2 - 1196)

SMC_hinge

SMC_hinge: SMC proteins Flexible Hinge Domain (530 - 642)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1217 a.a.
蛋白主名 其他名称

structural maintenance of chromosomes protein 3

SMC protein 3

SMC3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SMC3 Q9UQE7 STAG2 Homo sapiens Q8N3U4 17962804
种属内
SMC3 Q9UQE7 STAG2 Homo sapiens Q8N3U4 18235444
种属内
SMC3 Q9UQE7 STAG2 Homo sapiens Q8N3U4 17113138
种属内
SMC3 Q9UQE7 STAG2 Homo sapiens Q8N3U4 17349791
种属内
SMC3 Q9UQE7 STAG2 Homo sapiens Q8N3U4 26496610
种属内
SMC3 Q9UQE7 STAG2 Homo sapiens Q8N3U4 15737063
种属内
SMC3 Q9UQE7 STAG1 Homo sapiens Q8WVM7 17113138
种属内
SMC3 Q9UQE7 STAG1 Homo sapiens Q8WVM7 17962804
种属内
SMC3 Q9UQE7 STAG1 Homo sapiens Q8WVM7 17349791
种属内
SMC3 Q9UQE7 STAG1 Homo sapiens Q8WVM7 26496610
种属内
SMC3 Q9UQE7 STAG1 Homo sapiens Q8WVM7 17112726
种属内
SMC3 Q9UQE7 PDS5A Homo sapiens Q29RF7 17113138
种属内
SMC3 Q9UQE7 PDS5A Homo sapiens Q29RF7 17349791
种属内
SMC3 Q9UQE7 PDS5B Homo sapiens Q9NTI5 17113138
种属内
SMC3 Q9UQE7 PDS5B Homo sapiens Q9NTI5 17349791
种属内
SMC3 Q9UQE7 SMC1A Homo sapiens Q14683 17113138
种属内
SMC3 Q9UQE7 SMC1A Homo sapiens Q14683 17112726
种属内
SMC3 Q9UQE7 SMC1A Homo sapiens Q14683 17349791
种属内
SMC3 Q9UQE7 SMC1A Homo sapiens Q14683 21111234
种属内
SMC3 Q9UQE7 SMC1A Homo sapiens Q14683 26496610
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 17113138
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 17349791
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 22885700
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 26496610
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 18235444
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 17112726
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 15855230
种属内
SMC3 Q9UQE7 RAD21 Homo sapiens O60216 16802858
种属间: 跨种属相互作用 种属内: 同种属相互作用

SMC3 抗体

目录号 产品名 应用 反应物种
HY-P82806 SMC3 Antibody (YA2551) WB, IHC-P, ICC/IF, FC Human, Mouse, Rat

关联疾病

疾病名称 别名
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 3

CDLS3

Cornelia De Lange Syndrome, Type 3

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Wiedemann-Steiner Syndrome

WDSTS

Hairy Elbows, Short Stature, Facial Dysmorphism, And Developmental Delay

Hypertrichosis-Short Stature-Facial Dysmorphism-Developmental Delay Syndrome

Wiedemann Grosse Dibbern Syndrome

Kmt2a-Related Neurodevelopmental Disorder

Hairy Elbows Short Stature Facial Dysmorphism And Developmental Delay

Hypertrichosis Cubiti Facial Dysmorphism And Developmental Delay

Wss

Growth Deficiency And Mental Retardation With Facial Dysmorphism

Cornelia De Lange Syndrome 1

De Lange Syndrome

CDLS1

Cdl

Cdls

Typus Degenerativus Amstelodamensis

Brachmann-De Lange Syndrome

Bdls

Amstelodamensis Typus Degenerativus

Cornelia De Lange Syndrome, Type 1

Roberts-Sc Phocomelia Syndrome

Roberts Syndrome

Sc Phocomelia Syndrome

RBS

Long Bone Deficiencies Associated With Cleft Lip-Palate

Sc Pseudothalidomide Syndrome

Appelt-Gerken-Lenz Syndrome

Pseudothalidomide Syndrome

Tetraphocomelia-Cleft Palate Syndrome

Hypomelia Hypotrichosis Facial Hemangioma Syndrome

Roberts Syndrome/Sc Phocomelia

Roberts Tetraphocomelia Syndrome

Sc Syndrome

Sc Phocomelia

Sc Disease

Sc

Hemoglobin Sc Disease

Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Syndromic Intellectual Disability
Chronic Atrial And Intestinal Dysrhythmia

CAID

Caid Syndrome

Cohesinopathy Affecting Heart And Gut Rhythm

Chronic Atrial Intestinal Dysrhythmia Syndrome

Chronic Atrial And Intestinal Dysrhythmia Syndrome

Chronic Atrial Dysrhythmia-Intestinal Motility Disorder

Dysrhythmia, Atrial And Intestinal, Chronic

Warsaw Breakage Syndrome

WABS

WBRS

Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects

Cornelia De Lange Syndrome 4

CDLS4

Cornelia De Lange Syndrome, Type 4

Kbg Syndrome

KBGS

Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies

Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies

Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome

Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome

Uterine Corpus Endometrial Carcinoma
Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Myeloproliferative Syndrome, Transient

Transient Abnormal Myelopoiesis

Transient Myeloproliferative Syndrome

Transient Myeloproliferative Disease

Mst

Tam

Leukemia, Transient, Of Down Syndrome

Tmd

Leukemia, Transient

Transient Leukemia

Transient Leukemia Of Down Syndrome

Joubert Syndrome 7

JBTS7

Cerebello-Oculo-Renal Syndrome 3

Cors3

Joubert Syndrome, Type 7

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome

Lgs

Trichorhinophalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome Type 2

TRPS2

Monosomy 8q24.1

Chromosome 8q24.1 Deletion Syndrome

Deletion 8q24.1

Giedion-Langer Syndrome

Trichorhinophalangeal Dysplasia Type Ii

Langer Giedion Syndrome

Trps 2

Tricho-Rhino-Phalangeal Syndrome Type Ii

Trichorhinophalangeal Syndrome With Exostosis

Trps Ii

Tricho-Rhino-Phalangeal Syndrome 2

8q24.1 Microdeletion Syndrome

8q24.1 Deletion Syndrome

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

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Hypertrichosis
Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

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 SMC3 VGNC VGNC:35000
Rattus norvegicus SMC3 RGD RGD:62006
Felis catus SMC3 VGNC VGNC:65477
Canis familiaris SMC3 VGNC VGNC:46544
Mus musculus SMC3 MGD MGI:1339795
Macaca mulatta SMC3 VGNC VGNC:77769