HOXA11 - homeobox A11 Gene

Also Known as HOX1; HOX1I; RUSAT1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3207

About 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.

Summary

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 Products (1)

mRNA Protein Name
NM_005523.6 NP_005514.1 homeobox protein Hox-A11
Molecular Function GO Annotation Evidence References Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HOXA11 Protein Structure

DUF3528

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

Homeobox

Homeobox: Homeobox domain (242 - 298)

  • 0
  • 100
  • 200
  • 313 a.a.
Protein Preferred Names Protein Names

homeobox protein Hox-A11

  • homeo box 1I

Related Diseases

Diseases Alias
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

Diseases Alias
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

Orthologs Information

Species Symbol Source 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
Others HOXA11 NCBI