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  2. MDFIC - MyoD family inhibitor domain containing Gene

MDFIC - MyoD family inhibitor domain containing Gene

中文名称:含 MyoD 家族抑制剂结构域

种属: Homo sapiens

同用名: HIC; MDFIC1; LMPHM12

基因 ID: 29969 | 基因类型: protein coding

关于 MDFIC

Cytogenetic location: 7q31.1-q31.2 Genomic coordinates (GRCh38): 7:114,922,094-115,019,917 (from NCBI)

This gene has 6 transcripts (splice variants), 200 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 25.2), spleen (RPKM 14.3) and 23 other tissues.

功能概要

该基因产物是一个蛋白质家族的成员,其特征是具有特定的富含半胱氨酸的 C 末端结构域,该结构域参与病毒基因组表达的转录调控。来自上游非 AUG (GUG) 和框内下游 AUG 密码子的替代翻译起始,导致产生两种亚型,分别是 p40 和 p32,它们具有不同的亚细胞定位; p32 主要存在于细胞质中,而 p40 靶向核仁。两种亚型都具有转录调节活性,这归因于富含半胱氨酸的 C 末端结构域。可变剪接导致多个转录本变体。[RefSeq 提供,2009 年 10 月]

This gene product is a member of a family of proteins characterized by a specific cysteine-rich C-terminal domain, which is involved in transcriptional regulation of viral genome expression. Alternative translation initiation from an upstream non-AUG (GUG), and an in-frame, downstream AUG codon, results in the production of two isoforms, p40 and p32, respectively, which have different subcellular localization; p32 is mainly found in the cytoplasm, whereas p40 is targeted to the nucleolus. Both isoforms have transcriptional regulatory activity that is attributable to the cysteine-rich C-terminal domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

MDFIC 基因产物(3)

mRNA Protein Name
NM_001166345.3 NP_001159817.1 myoD family inhibitor domain-containing protein isoform p32
NM_001166346.1 NP_001159818.3 myoD family inhibitor domain-containing protein isoform c
NM_199072.5 NP_951038.1 myoD family inhibitor domain-containing protein isoform p40
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 DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
12192039 GOA
enables Tat protein binding IDA
IDA: 通过直接分析推断
12944466 GOA
enables cyclin binding IPI
IPI: 通过物理相互作用推断
12944466 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12192039 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
12944466 GOA
involved in positive regulation of viral transcription IDA
IDA: 通过直接分析推断
10671520 GOA
involved in regulation of JNK cascade IDA
IDA: 通过直接分析推断
12192039 GOA
involved in regulation of Wnt signaling pathway IDA
IDA: 通过直接分析推断
12192039 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
10671520 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
10671520 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10671520 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

MDFIC 蛋白结构

MDFI

MDFI: MyoD family inhibitor (74 - 246)

  • 0
  • 100
  • 200
  • 246 a.a.
蛋白主名 其他名称

myoD family inhibitor domain-containing protein

I-mfa domain-containing protein

关联疾病

疾病名称 别名
Lymphatic Malformation 12

Central Conducting Lymphatic Anomaly

LMPHM12

Ccla

Lymphatic Malformation-7

Doid:0081030

Hypogonadotropic Hypogonadism 16 With Or Without Anosmia

HH16

Hypogonadism, Hypogonadotropic, Type 16 With/Without Anosmia

Epiglottitis

Acute Epiglottitis

Acute Epiglottitis And Supraglottitis

Acute Epiglottiditis

Epiglottiditis

Epiglottitis Nos

Cleft Palate, Cardiac Defects, And Mental Retardation

Cardiac Malformation, Cleft Lip/Palate, Microcephaly, And Digital Anomalies

CPCMR

Cleft Palate, Cardiac Defects, And Intellectual Disabillity

Cleft Palate, Cardiac Defects, And Intellectual Disability

Cardiac Malformation, Cleft Lip-Palate, Microcephaly And Digital Anomalies

Leukodystrophy, Hypomyelinating, 5

Hypomyelination And Congenital Cataract

HLD5

Hypomyelination-Congenital Cataract Syndrome

Hypomyelinating Leukodystrophy 5

Hcc

Hypomyelination And Congenital Cataract: Hcc

Hypomyelination - Congenital Cataract

Hypomyelination With Congenital Cataract

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia

Acute T Cell Leukemia

Precursor T Lymphoblastic Leukemia

Precursor T-Lymphoblastic Lymphoma/Leukemia

T Acute Lymphoblastic Leukemia

T-Cell Acute Lymphocytic Leukaemia

T-Cell Lymphoblastic Leukemia/Lymphoma

Leukemia T-Cell

Leukemia, T-Cell

Leukemia, Acute, Lymphoblastic, T-Cell

Leukemia, T-Cell Acute Lymphoblastic

Leukemia, Acute T-Cell

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Precursor T-Cell Lymphoblastic Lymphoma

Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Immune Deficiency Disease

Immunodeficiency

Primary Immunodeficiency

Primary Immunodeficiency Disease

Immunologic Deficiency Syndromes

Hypoimmunity

Immune Deficiency Disorder

Immunodeficiency Syndrome

Immune Disorder

Primary Immune Deficiency Disorder

Immune System Diseases

Human Immunodeficiency Virus Infection

Hiv - [Human Immunodeficiency Virus Infection]

Hiv Positive Nos

Hiv Disease

Acquired Immune Deficiency Syndrome-Related Complex

Aids-Like Syndrome

Aids-Related Complex Nos

Arc - [Aids-Related Complex]

Immunodeficiency Due To Human Immunodeficiency Virus Infection

Unspecified Human Immunodeficiency Virus Disease

Hiv Disease Nos

Human Immunodeficiency Virus Positive Nos

Hiv Nos

Deficiency Of Complement Initial Pathway

Deficiency Of Complement Terminal Pathway

Cfdd - [Complement Factor D Deficiency]

Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency

Nonfamilial Hypogammaglobulinaemia

Common Variable Immune Deficiency

Nonfamilial Agammaglobulinaemia

Common Variable Agammaglobulinaemia

Agammaglobulinaemia Nos

Agammaglobulinaemia Antibody Deficiency Syndrome

Hypogammaglobulinaemia Antibody Deficiency Syndrome

Acquired Agammaglobulinaemia Nos

Hypogammaglobulinaemia Nos

Hyper Igm

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 MDFIC VGNC VGNC:31330
Canis familiaris MDFIC VGNC VGNC:43100
Mus musculus MDFIC MGD MGI:104611
Felis catus MDFIC VGNC VGNC:102635
Macaca mulatta MDFIC VGNC VGNC:74608
Rattus norvegicus MDFIC RGD RGD:1309532