2. Gene
  3. AMMECR1 - AMMECR nuclear protein 1 Gene

AMMECR1 - AMMECR nuclear protein 1 Gene

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

中文名称：AMMECR 核蛋白 1

种属: Homo sapiens

同用名: MFHIEN; AMMERC1

基因 ID: 9949 | 基因类型: protein coding

关于 AMMECR1

Cytogenetic location: Xq23 Genomic coordinates (GRCh38): X:110,194,186-110,440,233 (from NCBI)

This gene has 8 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.1), esophagus (RPKM 4.2) and 24 other tissues.

功能概要

该基因的确切功能尚不清楚，但是，包括该基因、COL4A5 和 FACL4 基因在内的 X 染色体的亚显微缺失会导致连续基因缺失综合征、AMME 综合征 (Alport 综合征、智力低下、中面部发育不全和椭圆形红细胞增多症) 。已发现该基因编码不同亚型的可变剪接转录物变体。[RefSeq 提供，2010 年 1 月]

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

AMMECR1 基因产物(3)

mRNA Protein Name
NM_001025580.2 NP_001020751.1 nuclear protein AMMECR1 isoform 2
NM_001171689.2 NP_001165160.1 nuclear protein AMMECR1 isoform 3
NM_015365.3 NP_056180.1 nuclear protein AMMECR1 isoform 1
基因本体论
  • 分子功能
  • 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
21304492 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
27811305 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

AMMECR1 蛋白结构

AMMECR1

AMMECR1: AMMECR1 (131 - 302)

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

nuclear protein AMMECR1

AMME syndrome candidate gene 1 protein

AMMECR1 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 AMMECR1 Q9Y4X0 KRTAP10-8 Homo sapiens P60410
Y2H Prey Pooling
26871637
Intra AMMECR1 Q9Y4X0 KRTAP10-8 Homo sapiens P60410
Validated Y2H
26871637
Intra AMMECR1 Q9Y4X0 KRTAP10-8 Homo sapiens P60410
Y2H Array
26871637
Intra AMMECR1 Q9Y4X0 ADAMTSL4 Homo sapiens Q6UY14-3
Y2H Prey Pooling
25416956
Intra AMMECR1 Q9Y4X0 ADAMTSL4 Homo sapiens Q6UY14-3
Validated Y2H
25416956
Intra AMMECR1 Q9Y4X0 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
26871637
Intra AMMECR1 Q9Y4X0 TRIM27 Homo sapiens P14373
Validated Y2H
26871637
Intra AMMECR1 Q9Y4X0 TRIM27 Homo sapiens P14373
Y2H Array
26871637
Intra AMMECR1 Q9Y4X0 CALCOCO2 Homo sapiens Q13137
Validated Y2H
25416956
Intra AMMECR1 Q9Y4X0 CALCOCO2 Homo sapiens Q13137
Y2H Array
25416956
Intra AMMECR1 Q9Y4X0 CALCOCO2 Homo sapiens Q13137
Y2H Prey Pooling
25416956
Intra AMMECR1 Q9Y4X0 EFEMP2 Homo sapiens O95967
Y2H Prey Pooling
26871637
Intra AMMECR1 Q9Y4X0 EFEMP2 Homo sapiens O95967
Validated Y2H
26871637
Intra AMMECR1 Q9Y4X0 EFEMP2 Homo sapiens O95967
Y2H Array
26871637
Intra AMMECR1 Q9Y4X0 LRP6 Homo sapiens O75581
Anti Bait CoIP
21304492
Intra AMMECR1 Q9Y4X0 LRP6 Homo sapiens O75581
Anti Tag CoIP
21304492
Cross AMMECR1 Q9Y4X0 Axin1 Rattus norvegicus O70239
Anti Tag CoIP
21304492
Cross AMMECR1 Q9Y4X0 csnk1g1 Crosspus laevis Q6NRT0
Anti Tag CoIP
21304492
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
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis

MFHIEN
Amme Complex

Alport Syndrome, Mental Retardation, Midface Hypoplasia, And Elliptocytosis

ATS-MR

Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome

Chromosome Xq22.3 Telomeric Deletion Syndrome

Amme Syndrome

Alport Syndrome With Intellectual Disability, Midface Hypoplasia And Elliptocytosis
Alport Syndrome

Hereditary Nephritis

Alport Syndrome, X-Linked

Hemorrhagic Hereditary Nephritis

Congenital Hereditary Hematuria

Hemorrhagic Familial Nephritis

Familial Nephritis

Thin Basement Membrane Disease

Thin Basement Membrane Nephropathy

Hematuria-Nephropathy-Deafness Syndrome

Hematuric Hereditary Nephritis

Hereditary Familial Congenital Hemorrhagic Nephritis

Hereditary Hematuria Syndrome

Hereditary Interstitial Pyelonephritis

Alport Deafness-Nephropathy

Alport Hearing Loss-Nephropathy

Alports Syndrome

Nephritis, Hereditary
Capillary Malformations, Congenital

Familial Multiple Nevi Flammei

Nevi Flammei, Familial Multiple

CMC

Port-Wine Stain

Capillary Malformations

Cmal

Familial Multiple Port-Wine Stains

Capillary Malformation

Capillary Malformations, Congenital, 1, Somatic, Mosaic

Congenital Capillary Malformations

Port-Wine Stain Familial Multiple

Hereditary Capillary Malformations

Capillary Malformations, Hereditary

Capillary Malformations, Congenital, Type 1, Somatic, Mosaic

Strawberry Nevus Of Skin

Naevus Flammeus
Cleft Soft Palate

Cleft Velum

Cleft Velum Palatinum

Soft Cleft Palate

Soft Palate Perforation
Opitz-Kaveggia Syndrome

Fg Syndrome

Fgs1

Fgs

Keller Syndrome

OKS

Fg Syndrome 1

Fg Syndrome Type 1

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum

Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency
Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability

Non-Specific X-Linked Mental Retardation

X-Linked Non-Specific Intellectual Disability
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome

Wagr Syndrome

11p Partial Monosomy Syndrome

Chromosome 11p13 Deletion Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies And Mental Retardation Syndrome

11p Deletion Syndrome

Chromosome 11p Deletion Syndrome

Wagr Complex

Wilms Tumor-Aniridia-Genitourinary Anomalies-Intellectual Disability Syndrome

Deletion 11p13

WAGR

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome

Chromosome 11p Deletion

11p Deletion

11p Monosomy

Deletion 11p

Monosomy 11p

Partial Monosomy 11p

Agr Triad

Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation Syndrome

Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome

Wagr Contiguous Gene Syndrome

Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome

Wilms Tumor-Aniridia-Genitourinary Anomalies-Mr Syndrome

Del(11)(P13)

Monosomy 11p13

Chromosome 11, Deletion 11p
Rasopathy

Ras/Mitogen-Activated Protein Kinase 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-RS00660 AMMECR1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus AMMECR1 RGD RGD:1561004
Mus musculus AMMECR1 MGD MGI:1860206
Macaca mulatta AMMECR1 VGNC VGNC:96555
Bos taurus AMMECR1 VGNC VGNC:96541
Canis familiaris AMMECR1 VGNC VGNC:81778
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