1. Gene
  2. DLK1 - delta like non-canonical Notch ligand 1 Gene

DLK1 - delta like non-canonical Notch ligand 1 Gene

中文名称:三角洲样非典型 Notch 配体 1

种属: Homo sapiens

同用名: DLK; FA1; ZOG; pG2; DLK-1; PREF1; Delta1; Pref-1

基因 ID: 8788 | 基因类型: protein coding

关于 DLK1

Cytogenetic location: 14q32.2 Genomic coordinates (GRCh38): 14:100,726,892-100,738,224 (from NCBI)

This gene has 5 transcripts (splice variants), 197 orthologues, 1 paralogue and is associated with 7 phenotypes. Biased expression in placenta (RPKM 382.3) and adrenal (RPKM 208.0).

功能概要

该基因编码一种跨膜蛋白,该蛋白包含多个表皮生长因子重复序列,可作为细胞生长的调节剂。编码的蛋白质参与包括脂肪细胞在内的几种细胞类型的分化。该基因位于 14 号染色体上经常显示出非亲本二体性的区域,并由父本等位基因印记和表达。该基因中的一个单核苷酸变异与儿童和青少年肥胖有关,并表现出极地优势,其中携带活跃父系等位基因的杂合子表达表型,而突变纯合子是正常的。[RefSeq 提供,2015 年 11 月]

This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]

DLK1 基因产物(2)

mRNA Protein Name
NM_001317172.2 NP_001304101.2 protein delta homolog 1 isoform 2 preproprotein
NM_003836.7 NP_003827.4 protein delta homolog 1 isoform 1 preproprotein
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 protein binding IPI
IPI: 通过物理相互作用推断
32814053 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of Notch signaling pathway IDA
IDA: 通过直接分析推断
25093684 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in extracellular space IDA
IDA: 通过直接分析推断
7925474 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

DLK1 蛋白结构

hEGF

hEGF: Human growth factor-like EGF (42 - 54)

EGF

EGF: EGF-like domain (92 - 122)

EGF

EGF: EGF-like domain (131 - 164)

EGF

EGF: EGF-like domain (174 - 203)

EGF

EGF: EGF-like domain (212 - 242)

  • 0
  • 100
  • 200
  • 300
  • 383 a.a.
蛋白主名 其他名称

protein delta homolog 1

delta-like 1 homolog

DLK1 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
DLK1 P80370 GRN Homo sapiens P28799-2
Y2H Pooling
32814053
种属内
DLK1 P80370 SPRED1 Homo sapiens Q7Z699
Validated Y2H
32814053
种属内
DLK1 P80370 SPRED1 Homo sapiens Q7Z699
Y2H Pooling
32814053
种属内
DLK1 P80370 SPRED1 Homo sapiens Q7Z699
Y2H Array
32814053
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 DLK1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70138 DLK-1 Protein, Human (S260N, HEK293, His) AAH13197.1 (A24-P297, S260N) ≥95%
HY-P77914 DLK-1 Protein, Human (HEK293, His) P80370-1 (A24-Q303) ≥95%
HY-P700856 DLK-1 Protein, Human (HEK293, hFc) P80370-1 (A24-Q303) ≥95%

关联疾病

疾病名称 别名
Temple Syndrome

Uniparental Disomy, Maternal, Chromosome 14

Temple Syndrome Due To Paternal 14q32.2 Microdeletion

Paternal Del(14)(Q32.2)

Temple Syndrome Due To Paternal 14q32.2 Hypomethylation

Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14

Upd(14)Mat

Idiopathic Central Precocious Puberty
Kagami-Ogata Syndrome

Paternal Uniparental Disomy Of Chromosome 14

Uniparental Disomy, Paternal, Chromosome 14

Kos

Mca Due To 14q32.2 Maternally Expressed Gene Defect

Paternal Uniparental Disomy 14

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Microdeletion

Maternal Del(14)(Q32.2)

Maternal Monosomy 14q32.2

Kagami-Ogata Syndrome Due To Maternal 14q32.2 Hypermethylation

Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14

Upd(14)Pat

Central Precocious Puberty

Cpp

Gonadotropin-Dependant Precocious Puberty

Gonadotropin-Dependent Precocious Puberty

Precocious Puberty, Central

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat

Angelman Syndrome

AS

Happy Puppet Syndrome

Happy Puppet Syndrome, Formerly

Puppetlike Syndrome

Myelodysplastic Syndrome

Myelodysplastic Syndromes

Myelodysplasia

MDS

Myelodysplastic Syndrome Included

Myelodysplastic Syndrome, Susceptibility To, Included

Myelodysplastic Syndrome, Somatic

Myelodysplastic Syndrome, Susceptibility To

Ganglioneuroblastoma
Neuroendocrine Tumor

Neuroendocrine Neoplasm

Neuroendocrine Tumors

Carcinoma, Neuroendocrine

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Silver-Russell Syndrome 1

Silver-Russell Syndrome

Russell-Silver Syndrome

Silver-Russell Dwarfism

Rss

SRS1

Srs

Silver Russell Dwarfism

Russell Silver Syndrome

Silver Russell Syndrome

Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Susceptibility To

Lung Cancer, Protection Against

Adenocarcinoma Of Lung, Somatic

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Developmental And Epileptic Encephalopathy 66

DEE66

Epileptic Encephalopathy, Early Infantile, 66

Eiee66

Developmental And Epileptic Encephalopathy, 66

Early Infantile Epileptic Encephalopathy 66

Encephalopathy, Epileptic, Early Infantile, Type 66

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

Diabetes Mellitus

Diabetes

Body Mass Index Quantitative Trait Locus 11

OBESITY

Obesity, Susceptibility To

Leanness, Inherited

Obesity, Susceptibility To, Bmiq11

Obesity, Mild, Early-Onset

Obesity, Association With

Obesity, Early-Onset, Susceptibility To

Obesity, Severe

Obesity, Severe, And Type Ii Diabetes

Obesity, Late-Onset

Obesity , Susceptibility To

BMIQ11

Obesity Bmiq11

Obesity, Early-Onset

Simple Obesity Nos

Excess Fat

Obesity, Not Elsewhere Classified, Body Mass Index Not Elsewhere Classified

Adiposis

Wilms Tumor 1

Nephroblastoma

Wilms Tumor

WT1

Wilms' Tumor

Bilateral Wilms Tumor

Wilms Tumor, Type 1

Wilms Tumor, Somatic

Adult Nephroblastoma

Wt1 Disorder

Renal Embryonic Tumor

Adult Kidney Wilms Tumor

Childhood Kidney Wilms Tumor

Nonanaplastic Kidney Wilms Tumor

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
Felis catus DLK1 VGNC VGNC:80986
Macaca mulatta DLK1 VGNC VGNC:71923
Mus musculus DLK1 MGD MGI:94900
Bos taurus DLK1 VGNC VGNC:28092
Rattus norvegicus DLK1 RGD RGD:619931
Canis familiaris DLK1 VGNC VGNC:39984
Macaca fascicularis DLK1 NCBI NCBI:102120804
Others DLK1 NCBI