2. Gene
  3. SMARCAD1 - SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 Gene

SMARCAD1 - SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 Gene

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

中文名称：SWI/SNF 相关，染色质基质相关肌动蛋白依赖调节因子，亚家族 a，含 DEAD/H 盒 1

种属: Homo sapiens

同用名: HRZ; ETL1; HEL1; ADERM; BASNS

基因 ID: 56916 | 基因类型: protein coding

关于 SMARCAD1

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:94,207,608-94,291,292 (from NCBI)

This gene has 8 transcripts (splice variants), 229 orthologues, 30 paralogues and is associated with 6 phenotypes. Ubiquitous expression in thyroid (RPKM 8.6), testis (RPKM 7.8) and 25 other tissues.

功能概要

该基因编码解旋酶蛋白 SNF 亚家族的成员。编码的蛋白质通过介导组蛋白 H3/H4 去乙酰化，在 DNA 复制后异染色质组织的恢复和表观遗传模式的传播中起着关键作用。该基因的突变与皮纹病有关。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2011 年 12 月]

This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

SMARCAD1 基因产物(9)

mRNA Protein Name
NM_001128429.3 NP_001121901.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a
NM_001128430.2 NP_001121902.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform a
NM_001254949.2 NP_001241878.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform c
NM_001375855.1 NP_001362784.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform b
NM_001375856.1 NP_001362785.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform b
NM_001375857.1 NP_001362786.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform d
NM_001375858.1 NP_001362787.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform e
NM_001375859.1 NP_001362788.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform f
NM_020159.5 NP_064544.2 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 isoform b
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 ATP-dependent chromatin remodeler activity IMP
IMP: 通过突变表型推断
22960744 GOA
enables DNA binding IDA
IDA: 通过直接分析推断
18675275 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
18675275 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA double-strand break processing IMP
IMP: 通过突变表型推断
22960744 GOA
involved in chromatin remodeling IMP
IMP: 通过突变表型推断
22960744 GOA
involved in chromosome separation IMP
IMP: 通过突变表型推断
21549307 GOA
involved in regulation of DNA recombination IEP
IEP: 通过表达模式推断
11031099 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nuclear replication fork IDA
IDA: 通过直接分析推断
21549307 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
22960744 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

SMARCAD1 蛋白结构

SNF2_N

SNF2_N: SNF2 family N-terminal domain (500 - 787)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (889 - 967)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1026 a.a.
蛋白主名 其他名称

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1

ATP-dependent helicase 1

关联疾病

疾病名称 别名
Adermatoglyphia

ADERM

Immigration Delay Disease

Absence Of Fingerprints

Adg

Congenital Absence Of Fingerprints

Isolated Congenital Adermatoglyphia

Fingerprints, Absence Of

Skin Abnormalities
Basan Syndrome

Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities

Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease

Baird Syndrome

Absence Of Fingerprints-Congenital Milia Syndrome

Absence Of Fingerprints Congenital Milia

Absence Of Dermatoglyphics Congenital Milia

Absence Of Dermatoglyphics-Congenital Milia Syndrome

Basan-Baird Syndrome

BSNS

Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities
Huriez Syndrome

Sclerotylosis

Keratoderma With Scleroatrophy Of The Extremities

HRZ

Scleroatrophic And Keratotic Dermatosis Of Limbs

Palmoplantar Keratoderma-Sclerodactyly Syndrome

Atrophic Fibrosis Of The Skin Of The Limbs, Hypoplasia Of Nails, And Keratodermia Of The Palms And Soles

Palmoplantar Hyperkeratosis-Sclerodactyly Syndrome

Scleroatrophic Syndrome
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-RS13407 SMARCAD1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SMARCAD1 VGNC VGNC:65466
Mus musculus SMARCAD1 MGD MGI:95453
Rattus norvegicus SMARCAD1 RGD RGD:1309640
Canis familiaris SMARCAD1 VGNC VGNC:46532
Bos taurus SMARCAD1 VGNC VGNC:34989
Macaca mulatta SMARCAD1 VGNC VGNC:77734
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