1. Gene
  2. HOXA11 - homeobox A11 Gene

HOXA11 - homeobox A11 Gene

中文名称:同源框 A11

种属: Homo sapiens

同用名: HOX1; HOX1I; RUSAT1

基因 ID: 3207 | 基因类型: protein coding

关于 HOXA11

Cytogenetic location: 7p15.2 Genomic coordinates (GRCh38): 7:27,181,157-27,185,232 (from NCBI)

This gene has 2 transcripts (splice variants), 259 orthologues, 42 paralogues and is associated with 44 phenotypes. Biased expression in endometrium (RPKM 34.9), prostate (RPKM 6.8) and 4 other tissues.

功能概要

在脊椎动物中,编码称为同源盒基因的转录因子类的基因位于四个独立染色体上名为 A、B、C 和 D 的簇中。这些蛋白质的表达在胚胎发育过程中受到时空调控。该基因是 7 号染色体 A 簇的一部分,编码 DNA 结合转录因子,可调节基因表达、形态发生和分化。该基因参与子宫发育的调节,是女性生育能力所必需的。该基因的突变可引起伴有无巨核细胞性血小板减少症的桡尺骨骨性早闭。[RefSeq 提供,2008 年 7 月]

In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. This gene is involved in the regulation of uterine development and is required for female fertility. Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia. [provided by RefSeq, Jul 2008]

HOXA11 基因产物(1)

mRNA Protein Name
NM_005523.6 NP_005514.1 homeobox protein Hox-A11
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 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

HOXA11 蛋白结构

DUF3528

DUF3528: Protein of unknown function (DUF3528) (25 - 171)

Homeobox

Homeobox: Homeobox domain (242 - 298)

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

homeobox protein Hox-A11

homeo box 1I

关联疾病

疾病名称 别名
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1

RUSAT1

Rusat

Thrombocytopenia, Congenital, With Radioulnar Synostosis

Ctrus

Radio-Ulnar Synostosis With Amegakaryocytic Thrombocytopenia

Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia, Type 1

Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia

Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome

Atrus Syndrome

Synostosis
Glioma
Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos

Thrombocytopenia 1

Xlt

THC1

Thrombocytopenia, X-Linked

Thrombocytopenia, X-Linked, Intermittent

X-Linked Thrombocytopenia

X-Linked Thrombocytopenia With Normal Platelets

Thc

Thrombocytopenia, X-Linked, 1

Thrombocytopenia X-Linked

Thrombocytopenia X-Linked 1

Submucous Uterine Fibroid

Submucous Leiomyoma Of Uterus

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome

Hfgs

Hfg Syndrome

Hfu Syndrome

HFG

Hfu

Hand Foot Uterus Syndrome

Hand Foot Genital Syndrome

Athabaskan Brainstem Dysgenesis Syndrome

Bosley-Salih-Alorainy Syndrome

Navajo Brainstem Syndrome

ABDS

Human Hoxa1 Syndromes

BSAS

Athabaskan Brainstem Dysgenesis

Bosley Salih Alorainy Syndrome

Absd

Athabascan Brainstem Dysgenesis Syndrome

Narvajo Brainstem Syndrome

Myoma

Muscle Benign Neoplasm

Myomatous Neoplasm

Neoplasms, Muscle Tissue

Benign Neoplasm Of The Muscle

Muscle Neoplasm

Muscle Tissue Neoplasm

Myomatous Tumor

Neoplasm Of Muscle

Muscle Neoplasms

Myomas

Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Guttmacher Syndrome

Preaxial Deficiency, Postaxial Polydactyly And Hypospadias

Autosomal Dominant Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias

Preaxial Deficiency-Postaxial Polydactyly-Hypospadias Syndrome

GUTTS

Pelvic Organ Prolapse

Rectal Prolapse

Pelvic Organ Prolapse, Susceptibility To, 1

Pelvic Organ Prolapse, Susceptibility To

Prolapse Of Vagina And Rectum

Vaginal Prolapse

Pelvic Organ Prolapse 1

Procidentia, Rectum

Prolapse Of Rectal Mucosa

Procidentia Of Rectum

Rectal Mucosa Prolapse

Rectum Prolapse

Procidentia Rectum

Rp - [Rectal Prolapse]

Male Proctocele

Male Rectocele

Proctoptosis

Female Genital Prolapse

Female Prolapse

Incompetence Of Pelvic Fundus

Relaxation Of Perineum

Deficiency Of Perineum

Amegakaryocytic Thrombocytopenia, Congenital

Congenital Amegakaryocytic Thrombocytopenia

CAMT

Thrombocytopenia, Congenital Amegakaryocytic

Congenital Amegakaryocytic Thrombocytopenic Purpura

Thrombocytopenia Congenital Amegakaryocytic

Thrombocytopenia, Amegakaryocytic, Congenital

Synpolydactyly

Syndactyly Type 2

Syndactyly, Type 2

Spd

Clubfoot

Congenital Talipes Equinovarus

Congenital Clubfoot

Congenital Equinovarus

Equinovarus Deformity Of Foot

Club Foot

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

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 HOXA11 VGNC VGNC:29909
Mus musculus HOXA11 MGD MGI:96172
Canis familiaris HOXA11 VGNC VGNC:41746
Felis catus HOXA11 VGNC VGNC:67617
Rattus norvegicus HOXA11 RGD RGD:1564605
Macaca mulatta HOXA11 VGNC VGNC:108412