1. Gene
  2. SALL3 - spalt like transcription factor 3 Gene

SALL3 - spalt like transcription factor 3 Gene

中文名称:spalt 样转录因子 3

种属: Homo sapiens

同用名: ZNF796

基因 ID: 27164 | 基因类型: protein coding

关于 SALL3

Cytogenetic location: 18q23 Genomic coordinates (GRCh38): 18:78,979,818-78,998,969 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 196 orthologues and 14 paralogues. Biased expression in brain (RPKM 1.5), prostate (RPKM 0.7) and 2 other tissues.

功能概要

该基因编码一种类似 sal 的 C2H2 型锌指蛋白,属于在果蝇、秀丽隐杆线虫和脊椎动物等多种物种中发现的进化保守基因家族。其中一些基因的突变与人类先天性疾病有关,表明它们在胚胎发育中的重要性。该蛋白与 DNA 甲基转移酶 3 α (DNMT3A) 结合,并减少 DNMT3A 介导的 CpG 岛甲基化。这表明该基因的沉默导致 DNA 甲基化加速,可能在肿瘤发生中起作用。[RefSeq 提供,2011 年 10 月]

This gene encodes a sal-like C2H2-type zinc-finger protein, and belongs to a family of evolutionarily conserved genes found in species as diverse as Drosophila, C. elegans, and vertebrates. Mutations in some of these genes are associated with congenital disorders in human, suggesting their importance in embryonic development. This protein binds to DNA Methyltransferase 3 alpha (DNMT3A), and reduces DNMT3A-mediated CpG island methylation. It is suggested that silencing of this gene, resulting in acceleration of DNA methylation, may have a role in oncogenesis. [provided by RefSeq, Oct 2011]

SALL3 基因产物(1)

mRNA Protein Name
NM_171999.4 NP_741996.2 sal-like protein 3

SALL3 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (434 - 459)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (693 - 718)

zf-C2H2_4

zf-C2H2_4: C2H2-type zinc finger (739 - 761)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (991 - 1015)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (1127 - 1152)

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蛋白主名 其他名称

sal-like protein 3

C2H2 zinc finger protein SALL3

关联疾病

疾病名称 别名
Ivic Syndrome

Oculootoradial Syndrome

Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, And Thrombocytopenia

IVIC

Instituto Venezolano De Investigaciones Cientificas Syndrome

Oculo-Oto-Radial Syndrome

Oors

Duane-Radial Ray Syndrome

Okihiro Syndrome

DRRS

Dr Syndrome

Duane Anomaly With Radial Ray Abnormalities And Deafness

Acrorenoocular Syndrome

Acrorenocular Syndrome

Duane Anomaly With Radial Abnormalities And Deafness

Acro-Renal-Ocular Syndrome

Ureteral Benign Neoplasm

Neoplasm Of Ureter

Ureteral Tumor

Cancer Of The Ureter

Malignant Tumour Of Ureter

Ureteric Cancer

Primary Malignant Neoplasm Of Ureter

Townes-Brocks Syndrome

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Anus, Imperforate, With Hand, Foot And Ear Anomalies

Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

Rear Syndrome

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Tbs

Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

Imperforate Anus With Hand, Foot And Ear Anomalies

Anal-Ear-Renal-Radial Malformation Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand And Foot Anomalies Syndrome

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Chromosome 18q Deletion Syndrome

18q- Syndrome

Monosomy 18q

Deletion Of Long Arm Of Chromosome 18

Chromosome 18q- Syndrome

Deletion 18q

18q Deletion Syndrome

Distal 18q Deletion Syndrome

Chromosome 18 Long Arm Deletion Syndrome

Chromosome 18q Monosomy

Del Syndrome

Chromosome 18 Deletion 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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus SALL3 RGD RGD:1310232
Macaca mulatta SALL3 VGNC VGNC:76967
Mus musculus SALL3 MGD MGI:109295
Felis catus SALL3 VGNC VGNC:64858
Bos taurus SALL3 VGNC VGNC:106912
Canis familiaris SALL3 VGNC VGNC:49643