2. Gene
  3. MACF1 - microtubule actin crosslinking factor 1 Gene

MACF1 - microtubule actin crosslinking factor 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：微管肌动蛋白交联因子 1

种属: Homo sapiens

同用名: ACF7; LIS9; MACF; OFC4; ABP620; KIAA0754; Lnc-PMIF

基因 ID: 23499 | 基因类型: protein coding

关于 MACF1

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:39,084,167-39,487,138 (from NCBI)

This gene has 58 transcripts (splice variants), 234 orthologues, 36 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 17.3), ovary (RPKM 13.9) and 25 other tissues.

功能概要

该基因编码一种含有大量血影蛋白和富含亮氨酸重复序列 (LRR) 结构域的大蛋白。编码的蛋白质是在不同细胞骨架元件之间形成桥梁的蛋白质家族的成员。这种蛋白质促进细胞外围的肌动蛋白-微管相互作用，并将微管网络耦合到细胞连接处。可变剪接导致多个转录变体，但其中一些变体的全长性质尚未确定。[RefSeq 提供，2013 年 5 月]

This gene encodes a large protein containing numerous spectrin and leucine-rich repeat (LRR) domains. The encoded protein is a member of a family of proteins that form bridges between different cytoskeletal elements. This protein facilitates actin-microtubule interactions at the cell periphery and couples the microtubule network to cellular junctions. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, May 2013]

MACF1 基因产物(3)

mRNA Protein Name
NM_001394062.1 NP_001380991.1 microtubule-actin cross-linking factor 1 isoform 2
NM_001397473.1 NP_001384402.1 microtubule-actin cross-linking factor 1 isoform 3
NM_012090.5 NP_036222.3 microtubule-actin cross-linking factor 1 isoform 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 actin binding IDA
IDA: 通过直接分析推断
10559237 GOA
enables actin filament binding IDA
IDA: 通过直接分析推断
27693509 GOA
enables microtubule minus-end binding IDA
IDA: 通过直接分析推断
27693509 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15265687 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in Golgi to plasma membrane protein transport IDA
IDA: 通过直接分析推断
15265687 GOA
involved in positive regulation of axon extension IDA
IDA: 通过直接分析推断
22705394 GOA
involved in regulation of cell migration IDA
IDA: 通过直接分析推断
27693509 GOA
involved in regulation of focal adhesion assembly IDA
IDA: 通过直接分析推断
27693509 GOA
involved in regulation of microtubule-based process IMP
IMP: 通过突变表型推断
20937854 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
15265687 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
10559237 GOA
located in microtubule IDA
IDA: 通过直接分析推断
16076900 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
20937854 GOA
located in ruffle membrane IDA
IDA: 通过直接分析推断
20937854 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

MACF1 蛋白结构

CH

CH: Calponin homology (CH) domain (81 - 181)

CH

CH: Calponin homology (CH) domain (197 - 297)

Plectin

Plectin: Plectin repeat (1577 - 1621)

Plectin

Plectin: Plectin repeat (1654 - 1696)

Plectin

Plectin: Plectin repeat (1769 - 1809)

Plectin

Plectin: Plectin repeat (1811 - 1848)

Plectin

Plectin: Plectin repeat (1855 - 1886)

Plectin

Plectin: Plectin repeat (2290 - 2333)

Plectin

Plectin: Plectin repeat (2367 - 2410)

Plectin

Plectin: Plectin repeat (2405 - 2437)

Plectin

Plectin: Plectin repeat (2501 - 2543)

Plectin

Plectin: Plectin repeat (2581 - 2612)

Plectin

Plectin: Plectin repeat (2686 - 2730)

Spectrin

Spectrin: Spectrin repeat (3883 - 3957)

Spectrin

Spectrin: Spectrin repeat (4000 - 4108)

Spectrin

Spectrin: Spectrin repeat (4466 - 4574)

Spectrin

Spectrin: Spectrin repeat (4800 - 4904)

Spectrin

Spectrin: Spectrin repeat (4909 - 5012)

Spectrin

Spectrin: Spectrin repeat (5236 - 5341)

Spectrin

Spectrin: Spectrin repeat (5348 - 5450)

Spectrin

Spectrin: Spectrin repeat (5455 - 5557)

Spectrin

Spectrin: Spectrin repeat (5783 - 5885)

Spectrin

Spectrin: Spectrin repeat (6005 - 6110)

Spectrin

Spectrin: Spectrin repeat (6115 - 6219)

Spectrin

Spectrin: Spectrin repeat (6225 - 6328)

Spectrin

Spectrin: Spectrin repeat (6333 - 6439)

Spectrin

Spectrin: Spectrin repeat (6443 - 6547)

Spectrin

Spectrin: Spectrin repeat (6552 - 6658)

Spectrin

Spectrin: Spectrin repeat (6665 - 6766)

Spectrin

Spectrin: Spectrin repeat (6771 - 6874)

EF-hand_7

EF-hand_7: EF-hand domain pair (7046 - 7105)

GAS2

GAS2: Growth-Arrest-Specific Protein 2 Domain (7120 - 7191)

  • 0
  • 1200
  • 2400
  • 3600
  • 4800
  • 6000
  • 7200
  • 7388 a.a.
蛋白主名 其他名称

microtubule-actin cross-linking factor 1

620 kDa actin binding protein

MACF1 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
MACF1 Q9UPN3 DISC1 Homo sapiens Q9NRI5-1
Y2H
17043677
种属内
MACF1 Q9UPN3 DISC1 Homo sapiens Q9NRI5
Y2H
17043677
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
Lissencephaly 9 With Complex Brainstem Malformation

LIS9

Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Lissencephaly

Pachygyria

Broad Gyri Of Cerebrum

Large Gyri Of Cerebrum

Macrogyria
Ovarian Endometrioid Adenofibroma
Paraneoplastic Pemphigus
Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6

HSAN6

Hsan Vi

Hereditary Sensory And Autonomic Neuropathy Type Vi

Familial Dysautonomia With Contractures

Neuropathy, Hereditary Sensory And Autonomic, 6

Hereditary Sensory Neuropathy Type Vi

Hsn Vi

Neuropathy, Sensory And Autonomic, Hereditary, Type Vi
Epidermolysis Bullosa Simplex 5b, With Muscular Dystrophy

Epidermolysis Bullosa Simplex With Muscular Dystrophy

Md-Ebs

Epidermolysis Bullosa Simplex And Limb-Girdle Muscular Dystrophy

EBS5B

Ebsmd

Mdebs

Limb-Girdle Muscular Dystrophy With Epidermolysis Bullosa Simplex

Ebs-Md

Epidermolysa Bullosa Simplex And Limb Girdle Muscular Dystrophy

Epidermolysa Bullosa Simplex With Muscular Dystrophy

Epidermolysis Bullosa Simplex - Limb Girdle Muscular Dystrophy

Ebs With Muscular Dystrophy

Muscular Dystrophy With Epidermolysis Bullosa Simplex

Epidermolysa Bullosa Simplex, With Muscular Dystrophy
Cerebellar Ataxia Type 9

Sca9
Pilomyxoid Astrocytoma
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS07942 MACF1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus MACF1 VGNC VGNC:55610
Mus musculus MACF1 MGD MGI:108559
Macaca mulatta MACF1 VGNC VGNC:100006
Rattus norvegicus MACF1 RGD RGD:1306057
Felis catus MACF1 VGNC VGNC:107579
Canis familiaris MACF1 VGNC VGNC:54215
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