1. Gene
  2. SFMBT1 - Scm like with four mbt domains 1 Gene

SFMBT1 - Scm like with four mbt domains 1 Gene

中文名称:SCM 就样有四个 mbt 域 1

种属: Homo sapiens

同用名: RU1; SFMBT; hSFMBT

基因 ID: 51460 | 基因类型: protein coding

关于 SFMBT1

Cytogenetic location: 3p21.1 Genomic coordinates (GRCh38): 3:52,903,572-53,046,073 (from NCBI)

This gene has 8 transcripts (splice variants), 229 orthologues and 18 paralogues. Broad expression in testis (RPKM 14.1), kidney (RPKM 2.6) and 24 other tissues.

功能概要

该基因与果蝇 Scm (中腿性梳) 基因具有高度相似性。它编码的蛋白质包含四个恶性脑肿瘤重复 (mbt) 结构域,可能参与抗原识别。[RefSeq 提供,2012 年 6 月]

This gene shares high similarity with the Drosophila Scm (sex comb on midleg) gene. It encodes a protein which contains four malignant brain tumor repeat (mbt) domains and may be involved in antigen recognition. [provided by RefSeq, Jun 2012]

SFMBT1 基因产物(1)

mRNA Protein Name
NM_016329.4 NP_057413.2 scm-like with four MBT domains protein 1
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 histone binding IDA
IDA: 通过直接分析推断
17599839 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
23592795 GOA
involved in negative regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
17599839 GOA
involved in negative regulation of muscle organ development IMP
IMP: 通过突变表型推断
23349461 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
17599839 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

SFMBT1 蛋白结构

MBT

MBT: mbt repeat (54 - 126)

MBT

MBT: mbt repeat (167 - 237)

MBT

MBT: mbt repeat (279 - 356)

MBT

MBT: mbt repeat (388 - 459)

SLED

SLED: SLED domain (501 - 618)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (795 - 857)

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

scm-like with four MBT domains protein 1

Scm-related gene containing four mbt domains

SFMBT1 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
Intra SFMBT1 Q9UHJ3 H3-4 Homo sapiens Q16695
Pull Down
17599839
Intra SFMBT1 Q9UHJ3 H3-4 Homo sapiens Q16695
Anti Tag CoIP
17599839
Intra SFMBT1 Q9UHJ3 ZCCHC10 Homo sapiens Q8TBK6
Validated Y2H
25416956
Intra SFMBT1 Q9UHJ3 ZCCHC10 Homo sapiens Q8TBK6
Y2H Array
25416956
Intra SFMBT1 Q9UHJ3 ZCCHC10 Homo sapiens Q8TBK6
Y2H Prey Pooling
25416956
Intra SFMBT1 Q9UHJ3 PHC2 Homo sapiens Q8IXK0
Y2H Array
25416956
Intra SFMBT1 Q9UHJ3 PHC2 Homo sapiens Q8IXK0
Y2H Pooling
16189514
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Scrotum Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Scrotum

Scrotal Squamous Cell Carcinoma

Chromosome 20q11-Q12 Deletion Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 11

Autosomal Dominant Non-Syndromic Intellectual Disability 11

MRD11

Intellectual Developmental Disorder, Autosomal Dominant 11, Included

Mrd11, Included

Mental Retardation, Autosomal Dominant 11, Included

Autosomal Dominant Intellectual Developmental Disorder 11

Autosomal Dominant Mental Retardation 11

Mental Retardation, Autosomal Dominant, Type 11

Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1

Hypophosphatemic Nephrolithiasis/Osteoporosis 1

NPHLOP1

Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1

Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1

Scrotal Carcinoma

Carcinoma Of Scrotum

Malignant Neoplasm Of Scrotum

Neoplasm Of Scrotum

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly

MARCH

Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly

Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome

Hydranencephaly With Renal Aplasia-Dysplasia

March Syndrome

Poland Syndrome

Poland Anomaly

Poland Sequence

Poland Syndactyly

Poland'S Syndrome

Poland'S Anomaly

Poland'S Syndactyly

Acro-Pectoro-Renal Field Defect

Brachydactyly, Absent Pectoral Muscles And Agenesis/Hypoplasia Of Kidneys

Unilateral Defect Of Pectoralis Muscle And Syndactyly Of The Hand

Unilateral Defect Of Pectoralis Major And Syndactyly Of The Hand

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Normal Pressure Hydrocephalus

Low Pressure Hydrocephalus

Hydrocephalus Normal Pressure

Hydrocephalus, Normal Pressure

Normal Pressure Hydrocephalus Nos

Nph - [Normal Pressure Hydrocephalus]

Normal Pressure Hydrocephaly

Communicating Hydrocephalus

Acquired Communicating Hydrocephalus

Brachydactyly, Type A2

Brachydactyly Type A2

BDA2

Mohr-Wriedt Type Brachydactyly

Brachymesophalangy Ii

Brachymesophalangy Type 2

Brachymesophalangy 2

Brachydactyly, Mohr-Wriedt Type

Brachydactyly A2

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
Mus musculus SFMBT1 MGD MGI:1859609
Felis catus SFMBT1 VGNC VGNC:65061
Canis familiaris SFMBT1 VGNC VGNC:46076
Bos taurus SFMBT1 VGNC VGNC:34515
Rattus norvegicus SFMBT1 RGD RGD:61999
Macaca mulatta SFMBT1 VGNC VGNC:77279