1. Gene
  2. SMARCAL1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 Gene

SMARCAL1 - SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 Gene

中文名称:SWI/SNF 相关、基质相关、肌动蛋白依赖性染色质调节因子,亚科 a 类似 1

种属: Homo sapiens

同用名: HARP; HHARP

基因 ID: 50485 | 基因类型: protein coding

关于 SMARCAL1

Cytogenetic location: 2q35 Genomic coordinates (GRCh38): 2:216,412,484-216,483,053 (from NCBI)

This gene has 27 transcripts (splice variants), 194 orthologues, 30 paralogues and is associated with 3 phenotypes. Ubiquitous expression in ovary (RPKM 7.5), testis (RPKM 7.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质是 SWI/SNF 蛋白质家族的成员。该家族的成员具有解旋酶和 ATP 酶活性,被认为通过改变这些基因周围的染色质结构来调节某些基因的转录。编码的蛋白质显示出与大肠杆菌 RNA 聚合酶结合蛋白 HepA 的序列相似性。该基因的突变是 Schimke 免疫骨发育不良 (SIOD) 的原因,SIOD 是一种常染色体隐性遗传病,具有脊柱骨骺发育不良、肾功能障碍和 T 细胞免疫缺陷的诊断特征。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]

SMARCAL1 基因产物(2)

mRNA Protein Name
NM_001127207.2 NP_001120679.1 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1
NM_014140.4 NP_054859.2 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like 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 ATP-dependent DNA/DNA annealing activity IDA
IDA: 通过直接分析推断
22705370 GOA
enables ATP-dependent DNA/DNA annealing activity IMP
IMP: 通过突变表型推断
18974355 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19793862 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IMP
IMP: 通过突变表型推断
19793862 GOA
involved in double-strand break repair via nonhomologous end joining IMP
IMP: 通过突变表型推断
26089390 GOA
involved in regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
18974355 GOA
involved in replication fork processing IMP
IMP: 通过突变表型推断
19793862 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of DNA replication factor A complex IDA
IDA: 通过直接分析推断
19793862 GOA
located in nucleus IDA
IDA: 通过直接分析推断
18974355 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
19793862 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

SMARCAL1 蛋白结构

HARP

HARP: HepA-related protein (HARP) (248 - 302)

HARP

HARP: HepA-related protein (HARP) (343 - 397)

SNF2_N

SNF2_N: SNF2 family N-terminal domain (452 - 666)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (744 - 822)

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

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1

ATP-driven annealing helicase

SMARCAL1 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 SMARCAL1 Q9NZC9 RPA2 Homo sapiens P15927
NMR
24910198
Intra SMARCAL1 Q9NZC9 RPA2 Homo sapiens P15927
ITC
24910198
Intra SMARCAL1 Q9NZC9 RPA2 Homo sapiens P15927
TAP
24981860
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
Schimke Immunoosseous Dysplasia

Schimke Immuno-Osseous Dysplasia

SIOD

Immunoosseous Dysplasia, Schimke Type

Schimke Syndrome

Immunoosseous Dysplasia Schimke Type

Spondyloepiphyseal Dysplasia - Nephrotic Syndrome

Spondyloepiphyseal Dysplasia Nephrotic Syndrome

Spondyloepiphyseal Dysplasia-Nephrotic Syndrome

Atrioventricular Septal Defect

AVSD

Atrioventricular Canal Defect

Avcd

Endocardial Cushion Defect

Ecd

Avc Defect

Atrioventricular Septal Defect, Susceptibility To, 1

Atrioventricular Septal Defect 1

Endocardial Cushion Defects

Septal Defect, Atrioventricular

Atrioventricular Defect With Atrial Shunting Only

Incomplete Atrioventricular Septal Defect With Isolated Atrial Component

Incomplete Atrioventricular Canal Defect With Isolated Atrial Component

Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect With Isolated Atrial Component

Partial Atrioventricular Septal Defect, Ostium Primum Type

Ostium Primum Atrial Septal Defect

Partial Atrioventricular Canal Defect

Partial Atrioventricular Septal Defect

Atrial Septum Primum Defect

Atrioventricular Canal Defect With Isolated Ventricular Component

Atrioventricular Canal Defect With Isolated Ventricular Communication

Atrioventricular Septal Defect With Isolated Ventricular Component

Atrioventricular Septal Defect With Atrial Shunting And Restrictive Ventricular Shunting

Intermediate Atrioventricular Canal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valve

Transitional Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valves

Atrioventricular Canal Defect Associated With A Restrictive Ventricular Septal Defect

Intermediate Atrioventricular Canal Defect

Intermediate Atrioventricular Septal Defect With Atrial And Ventricular Components And Separate Atrioventricular Valvar Orifices

Intermediate Atrioventricular Septal Defect

Transitional Atrioventricular Canal Defect

Transitional Atrioventricular Septal Defect

Complete Atrioventricular Canal With Atrial And Ventricular Components

Complete Atrioventricular Canal Defect

Complete Atrioventricular Septal Defect

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Focal Segmental Glomerulosclerosis

Familial Idiopathic Steroid-Resistant Nephrotic Syndrome

Focal Glomerulosclerosis

Fsgs

Segmental Glomerulosclerosis

Glomerulosclerosis, Focal Segmental

Fgs

Focal Glomerular Sclerosis

Familial Idiopathic Nephrotic Syndrome

Focal Sclerosis With Hyalinosis

Glomerulosclerosis, Focal

Glomerulosclerosis Focal

Glomerulosclerosis, Segmental, Focal

Focal Segmental Glomerulosclerosis, Not Otherwise Specified

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Immuno-Osseous Dysplasia
Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

D-Minus Hemolytic Uremic Syndrome

Atypical Hus

Atypical Hemolytic Uremic Syndrome

Hus, Atypical

Ahus

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia

Chst3-Related Skeletal Dysplasia

Humerospinal Dysostosis

Spondyloepiphyseal Dysplasia, Omani Type

Chondrodysplasia With Multiple Dislocations

SEDCJD

Hsd

Cdmd

Humero-Spinal Dysostosis

Kozlowski Celermajer Tink Syndrome

Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type

Larsen Syndrome, Recessive Type

Humero-Spinal Dysostosis With Congenital Heart Disease

Omani Type

Sed

Chst3 Deficiency

Chst3-Related Dysplasia

Recessive Larsen Syndrome

Autosomal Recessive Larsen Syndrome

Sed With Luxations, Chst3 Type

Sed, Omani Type

Sdcd, Chst3 Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type

Sed Omani Type

Spondyloepiphyseal Dysplasia Omani Type

Larsen Syndrome, Autosomal Recessive

Mucopolysaccharidosis Iv

Spondyloepiphyseal Dysplasia, Congenita

Hemolytic Uremic Syndrome, Atypical 1

Atypical Hemolytic-Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1

Atypical Hemolytic Uremic Syndrome

Hemolytic Uremic Syndrome, Atypical, Susceptibility To

Ahus

AHUS1

Hemolytic-Uremic Syndrome

Ahus 1

Ahus, Susceptibility To, 1

Hemolytic Uremic Syndrome, Atypical

Non-Shiga-Like Toxin-Associated Hus

Non-Stx-Hus

Nonenteropathic Hus

Atypical Hus

Shiga Toxin-Associated Hemolytic Uremic Syndrome

D+ Hus

Ehec-Hus

Hemolytic Uremic Syndrome Associated With Shiga Toxin-Producing Escherichia Coli

Hemolytic Uremic Syndrome With Diarrhea

Stec-Hus

Shiga-Like Toxin-Associated Hus

Stx-Hus

Typical Hus

Typical Hemolytic Uremic Syndrome

Atypical Hemolytic Uremic Syndrome With Anti-Factor H Antibodies

Atypical Hus With Anti-Factor H Antibodies

Ahus With Anti-Factor H Antibodies

Ahus With Neutralizing Autoantibodies Against Factor H

Hemolytic Uremic Syndrome Atypical 1

Atypical Hemolytic Uremic Syndrome With H Factor Anomaly

D Hus

Hemolytic-Uremic Syndrome Without Diarrhea

Hemolytic-Uremic Syndrome, Atypical, Type 1

Hemolytic Uremic Syndrome, Typical

T Cell Deficiency

T Cell Immunodeficiency

T Lymphocyte Deficiency

T Lymphocyte Immunodeficiency

T-Lymphocyte Deficiency

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Frasier Syndrome

FS

Bone Development Disease
Galloway-Mowat Syndrome

Galloway Mowat Syndrome

Galloway Syndrome

Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type

Microcephaly Nephrosis Syndrome

Microcephaly, Hiatal Hernia, And Nephrotic Syndrome

Nephrosis Neuronal Dysmigration Syndrome

Microcephaly-Hiatus Hernia-Nephrotic Syndrome

Nephrosis-Neuronal Dysmigration Syndrome

Denys-Drash Syndrome

Drash Syndrome

DDS

Nephropathy, Wilms Tumor, And Genital Anomalies

Wilms Tumor And Pseudohermaphroditism

Wilms Tumor And Pseudo- Or True Hermaphroditism

Nephropathy Associated With Male Pseudohermaphroditism And Wilms' Tumor

Pseudohermaphroditism, Nephron Disorder And Wilms' Tumor

Wilms Tumor-Dsd Syndrome

Wilms Tumor-Disorder Of Sex Development Syndrome

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

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

Seckel Syndrome

Microcephalic Primordial Dwarfism

Bird-Headed Dwarfism

Harper'S Syndrome

Virchow-Seckel Dwarfism

Nanocephalic Dwarfism

Sckl

Seckel-Type Dwarfism

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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 SMARCAL1 VGNC VGNC:34990
Macaca mulatta SMARCAL1 VGNC VGNC:77650
Mus musculus SMARCAL1 MGD MGI:1859183
Felis catus SMARCAL1 VGNC VGNC:65467
Rattus norvegicus SMARCAL1 RGD RGD:1306134
Canis familiaris SMARCAL1 VGNC VGNC:46533