Aliases for HOXA1 Gene
Aliases for HOXA1 Gene
External Ids for HOXA1 Gene
- HGNC: 5099
- Entrez Gene: 3198
- Ensembl: ENSG00000105991
- OMIM: 142955
- UniProtKB: P49639
Previous HGNC Symbols for HOXA1 Gene
- HOX1F
- HOX1
Previous GeneCards Identifiers for HOXA1 Gene
- GC07M026776
- GC07M026874
- GC07M026905
- GC07M027099
- GC07M027013
Summaries for HOXA1 Gene
-
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. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. Two transcript variants encoding two different isoforms have been found for this gene, with only one of the isoforms containing the homeodomain region. [provided by RefSeq, Jul 2008]
GeneCards Summary for HOXA1 Gene
HOXA1 (Homeobox A1) is a Protein Coding gene. Diseases associated with HOXA1 include Athabaskan Brainstem Dysgenesis Syndrome and Hoxa1-Related Disorders. Among its related pathways are Neural Crest Differentiation and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXB1.
UniProtKB/Swiss-Prot for HOXA1 Gene
-
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXA1 Gene
Genomics for HOXA1 Gene
Regulatory Elements for HOXA1 Gene
Enhancers for HOXA1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HOXA1 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the HOXA1 gene promoter:
Regulatory Element Products
Genomic Location for HOXA1 Gene
- Chromosome:
- 7
- Start:
- 27,092,993 bp from pter
- End:
- 27,096,006 bp from pter
- Size:
- 3,014 bases
- Orientation:
- Minus strand
Genomic View for HOXA1 Gene
Genes around HOXA1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p15.2 by Ensembl
- 7p15.2 by Entrez Gene
- 7p15.2 by HGNC
HOXA1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HOXA1 Gene
Proteins for HOXA1 Gene
-
Protein details for HOXA1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P49639-HXA1_HUMAN
- Recommended name:
- Homeobox protein Hox-A1
- Protein Accession:
- P49639
- A4D184
- B2R8U7
- O43363
Protein attributes for HOXA1 Gene
- Size:
- 335 amino acids
- Molecular mass:
- 36641 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for HOXA1 Gene
Other Protein References for HOXA1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for HOXA1 (HOXA1)
-
Custom Antibody ServicesOriGene Antibodies for HOXA1
- Novus Biologicals Antibodies for HOXA1
- Invitrogen Antibodies for HOXA1
- antibodies-online Antibodies for HOXA1: See all 102
- GeneTex HOXA1 antibody for HOXA1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HOXA1
Protein Products
-
OriGene Purified Proteins for HOXA1
- Search Origene for MassSpec and Protein Over-expression Lysates for HOXA1
- Origene Custom Protein Services for HOXA1
- Sino Biological Recombinant Proteins for HOXA1
- Browse Sino Biological Cell Lysates
- antibodies-online Proteins for HOXA1: See all 10
- Search antibodies-online for peptides
- GeneTex Proteins for HOXA1
Assay Products
- antibodies-online Kits for HOXA1: See all 2
No data available for DME Specific Peptides for HOXA1 Gene
Domains & Families for HOXA1 Gene
Gene Families for HOXA1 Gene
Protein Domains for HOXA1 Gene
Suggested Antigen Peptide Sequences for HOXA1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P49639- Family:
-
- Belongs to the Antp homeobox family. Labial subfamily.
Function for HOXA1 Gene
Molecular function for HOXA1 Gene
- GENATLAS Biochemistry:
- homeo box A1(1F),homologous to mouse Hox-1.6,Drosophila 1ab
- UniProtKB/Swiss-Prot Function:
- Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis. Acts on the anterior body structures. Seems to act in the maintenance and/or generation of hindbrain segments.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0042802 | identical protein binding | IPI | 21516116 |
| GO:0043565 | sequence-specific DNA binding | IEA | -- |
Phenotypes for HOXA1 Gene
- MGI mutant phenotypes for HOXA1:
-
inferred from 13 alleles
- mortality/aging
- cellular phenotype
- behavior/neurological phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- hearing/vestibular/ear phenotype
- skeleton phenotype
- embryo phenotype
- hematopoietic system phenotype
- craniofacial phenotype
- no phenotypic analysis
- GenomeRNAi human phenotypes for HOXA1:
-
- Increased viability
- Decreased viability in esophageal squamous lineage
- Dynamic nuclei (hole, folded or small irregular)
- Decreased human papilloma virus 16 (HPV16) pseudovirus infection
- Decreased NF-kappaB reporter expression
- Resistant to vaccinia virus (VACV-A4L) infection
- Synthetic lethal with c-Myc after tamoxifen stimulation
- Decreased IL-8 secretion
Animal Models for HOXA1 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXA1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXA1 gene
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CRISPR Products
-
OriGene CRISPR knockouts for HOXA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXA1
- GenScript: Design CRISPR guide RNA sequences for HOXA1
miRNA for HOXA1 Gene
- miRTarBase miRNAs that target HOXA1
-
- hsa-mir-210-3p (MIRT000152)
- hsa-mir-10a-5p (MIRT001140)
- hsa-mir-100-5p (MIRT054544)
- hsa-mir-99a-5p (MIRT054708)
- hsa-mir-6826-3p (MIRT443412)
- hsa-mir-1227-3p (MIRT443413)
- hsa-mir-7154-5p (MIRT443414)
- hsa-mir-5189-3p (MIRT443415)
- hsa-mir-203a-3p (MIRT443416)
- hsa-mir-6795-3p (MIRT443417)
- hsa-mir-6887-3p (MIRT443418)
- hsa-mir-8060 (MIRT443419)
- hsa-mir-455-5p (MIRT443420)
- hsa-mir-498 (MIRT529274)
- hsa-mir-561-5p (MIRT529275)
- hsa-mir-6830-5p (MIRT529276)
- hsa-mir-8080 (MIRT529277)
miRNA Products
- Search ViGene Biosciences for HOXA1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HOXA1
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-
ViGene Biosciences ready-to-package AAV shRNAs for HOXA1 gene
Clone Products
- Sino Biological Human cDNA Clone for HOXA1
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Cell Line Products
-
Horizon Cell Lines for HOXA1
-
ViGene Biosciences adenoviral particle packaged cDNA for HOXA1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HOXA1 gene
-
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Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA6-11540) for HOXA1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HOXA1 Gene
Localization for HOXA1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HOXA1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for HOXA1 Gene
Pathways by source for HOXA1 Gene
2 BioSystems pathways for HOXA1 Gene
Interacting Proteins for HOXA1 Gene
Selected Interacting proteins:
P49639-HXA1_HUMAN
ENSP00000343246
for HOXA1 Gene via
MINT
STRING
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
| GO:0007275 | multicellular organism development | TAS | 7622051 |
| GO:0007605 | sensory perception of sound | IDA | 16155570 |
| GO:0007634 | optokinetic behavior | IDA | 16155570 |
No data available for SIGNOR curated interactions for HOXA1 Gene
Transcripts for HOXA1 Gene
mRNA/cDNA for HOXA1 Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (38) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HOXA1
-
Santa Cruz Biotechnology (SCBT) CRISPR for HOXA1
- GenScript: Design CRISPR guide RNA sequences for HOXA1
miRNA Products
- Search ViGene Biosciences for HOXA1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HOXA1
- Browse OriGene Inhibitory RNA Products For HOXA1
-
ViGene Biosciences ready-to-package AAV shRNAs for HOXA1 gene
Clone Products
- Sino Biological Human cDNA Clone for HOXA1
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for HOXA1
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA6-11540) for HOXA1
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b |
|---|---|---|---|---|---|---|---|
| SP1: | |||||||
| SP2: |
Expression for HOXA1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Adipose (Muscoskeletal System)
- Lumbar Brown Adipocyte Cells Lumbar Brown Adipose Depot
- Cervical Brown Adipocyte Cells Cervical Brown Adipose Depot
- Thoracic Brown Adipocyte Cells Thoracic Brown Adipose Depot
- Sacral Brown Adipocyte Cells Sacral Brown Adipose Depot
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Occipital Somite
- Inner Cell Mass (Early Embryonic Tissues)
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for HOXA1 Gene
This gene is overexpressed in Bladder (x7.2) and Esophagus - Mucosa (x5.4).
NURSA nuclear receptor signaling pathways regulating expression of HOXA1 Gene:
HOXA1SOURCE GeneReport for Unigene cluster for HOXA1 Gene:
Hs.67397Evidence on tissue expression from TISSUES for HOXA1 Gene
- Skin(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXA1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- cerebellum
- eye
- head
Primer Products
-
OriGene qPCR primer pairs for HOXA1
-
OriGene qPCR primer pairs and template standards for HOXA1
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HOXA1 Gene
Orthologs for HOXA1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HOXA1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | HOXA1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HOXA1 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HOXA1 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Hoxa1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | LOC100911406 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | HOXA1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HOXA1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HOXA1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | hoxa1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hoxa1a 34 35 |
|
||
| -- 34 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | zen2 35 |
|
ManyToMany |
- Species where no ortholog for HOXA1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HOXA1 Gene
Variants for HOXA1 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs104894017 | Pathogenic | 27,095,829(-) | GCCTA(C/G)CCCTC | upstream-variant-2KB, reference, stop-gained | |
| rs104894018 | Pathogenic | 27,095,837(-) | CAGCC(C/G/T)GAGCC | upstream-variant-2KB, reference, missense | |
| rs2074398 | Likely benign | 27,095,700(+) | tgatg(A/G)tggtg | upstream-variant-2KB, reference, synonymous-codon | |
| rs368428758 | Likely benign | 27,095,695(+) | GGTGG(-/CGA)TGGTG | upstream-variant-2KB, cds-indel | |
| rs45571645 | Likely benign | 27,095,477(+) | CTGGT(G/T)GTGGT | intron-variant, upstream-variant-2KB, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1094n67 | CNV | gain | 20364138 |
| dgv11244n54 | CNV | loss | 21841781 |
| nsv7393 | OTHER | inversion | 18451855 |
Residual Variation Intolerance Score:
33.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.56;
44.59% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HOXA1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXA1 Gene
Disorders for HOXA1 Gene
(9) MalaCards diseases for HOXA1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| athabaskan brainstem dysgenesis syndrome |
|
|
| hoxa1-related disorders |
|
|
| duane retraction syndrome |
|
|
| pneumonic plague |
|
|
| tethered spinal cord syndrome |
|
|
Search HOXA1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HXA1_HUMAN- Athabaskan brainstem dysgenesis syndrome (ABDS) [MIM:601536]: Characterized by horizontal gaze palsy, sensorineural deafness, central hypoventilation, and developmental delay. Some patients had swallowing dysfunction, vocal cord paralysis, facial paresis, seizures, and cardiac outflow tract anomalies. {ECO:0000269 PubMed:16155570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Bosley-Salih-Alorainy syndrome (BSAS) [MIM:601536]: A disease characterized by horizontal gaze abnormalities, deafness, facial weakness, vascular malformations of the internal carotid arteries and cardiac outflow trac. Some patients manifest mental retardation and autism spectrum disorder. Affected individuals do not suffer from central hypoventilation. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for HOXA1
No data available for Genatlas for HOXA1 Gene
Publications for HOXA1 Gene
- HOXA1 A218G polymorphism is associated with smaller cerebellar volume in healthy humans. (PMID: 19018953) Canu E. … Frisoni G.B. (J Neuroimaging 2009) 3 22 46 64
- Polymorphisms of coding trinucleotide repeats of homeogenes in neurodevelopmental psychiatric disorders. (PMID: 19018235) Laroche F. … Robel L. (Psychiatr. Genet. 2008) 3 22 46 64
- HOXA1 gene variants influence head growth rates in humans. (PMID: 17171652) Muscarella L.A. … Persico A.M. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2007) 3 22 46 64
- Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development. (PMID: 16155570) Tischfield M.A. … Engle E.C. (Nat. Genet. 2005) 3 4 22 64
- Association between the HOXA1 A218G polymorphism and increased head circumference in patients with autism. (PMID: 14960295) Conciatori M. … Persico A.M. (Biol. Psychiatry 2004) 3 22 46 64
Products for HOXA1 Gene
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- antibodies-online Antibodies for HOXA1: See all 102
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- VectorBuilder custom plasmid, inducible vectors for HOXA1
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HOXA1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
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