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Aliases for HHATL Gene

Aliases for HHATL Gene

  • Hedgehog Acyltransferase Like 2 3 5
  • Membrane Bound O-Acyltransferase Domain Containing 3 2 3
  • Hedgehog Acyltransferase-Like Protein 3 4
  • Glycerol Uptake/Transporter Homolog 3 4
  • C3orf3 3 4
  • GUP1 3 4
  • Protein-Cysteine N-Palmitoyltransferase HHAT-Like Protein 3
  • GUP1, Glycerol Uptake/Transporter Homolog (Yeast) 2
  • GUP1 Glycerol Uptake/Transporter Homolog 3
  • Chromosome 3 Open Reading Frame 3 2
  • KIAA1173 4
  • MSTP002 3
  • MBOAT3 3
  • OACT3 3

External Ids for HHATL Gene

Previous HGNC Symbols for HHATL Gene

  • C3orf3
  • GUP1

Previous GeneCards Identifiers for HHATL Gene

  • GC03M042714
  • GC03M042715

Summaries for HHATL Gene

GeneCards Summary for HHATL Gene

HHATL (Hedgehog Acyltransferase Like) is a Protein Coding gene. Diseases associated with HHATL include Skin Squamous Cell Carcinoma. An important paralog of this gene is HHAT.

UniProtKB/Swiss-Prot for HHATL Gene

  • Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN.

Additional gene information for HHATL Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHATL Gene

Genomics for HHATL Gene

Regulatory Elements for HHATL Gene

Enhancers for HHATL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H042700 1.4 Ensembl ENCODE dbSUPER 9.4 +0.6 637 2 ELF3 RB1 ARID4B KLF17 RAD21 DNMT3B ZSCAN9 RARA CHAMP1 SLC30A9 NKTR ZNF662 SNRK-AS1 HHATL HHATL-AS1 KLHL40
GH03H042682 1.7 FANTOM5 Ensembl ENCODE dbSUPER 7 +17.7 17710 4 FOXA2 ATF1 ARNT INSM2 EGR1 FOS CREM SMARCA5 ZNF362 CEBPB SEC22C HHATL LYZL4 NKTR CCDC13 CCK KRBOX1 KLHL40 RN7SL567P
GH03H042695 0.6 FANTOM5 dbSUPER 19.4 +7.3 7281 0 HHATL CCDC13-AS1 CCDC13 FAM198A ZNF662 KLHL40 HHATL-AS1
GH03H042739 1.4 FANTOM5 Ensembl ENCODE dbSUPER 7.6 -37.2 -37188 1 SCRT1 TFE3 SCRT2 ZNF623 ATF2 ZKSCAN1 CCDC13-AS1 HHATL LINC02158
GH03H042744 1.3 Ensembl ENCODE dbSUPER 7.7 -41.7 -41653 0 TBP CTCF PKNOX1 RB1 SAP130 SIN3A CEBPG ZNF2 RAD21 CC2D1A LINC02158 CCDC13 HHATL CCDC13-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HHATL on UCSC Golden Path with GeneCards custom track

Genomic Location for HHATL Gene

Chromosome:
3
Start:
42,692,663 bp from pter
End:
42,702,848 bp from pter
Size:
10,186 bases
Orientation:
Minus strand

Genomic View for HHATL Gene

Genes around HHATL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HHATL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HHATL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HHATL Gene

Proteins for HHATL Gene

  • Protein details for HHATL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCP6-HHATL_HUMAN
    Recommended name:
    Protein-cysteine N-palmitoyltransferase HHAT-like protein
    Protein Accession:
    Q9HCP6
    Secondary Accessions:
    • Q8TBG3
    • Q9ULP7

    Protein attributes for HHATL Gene

    Size:
    504 amino acids
    Molecular mass:
    56703 Da
    Quaternary structure:
    • Interacts with SHH.

neXtProt entry for HHATL Gene

Post-translational modifications for HHATL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for HHATL Gene

Domains & Families for HHATL Gene

Gene Families for HHATL Gene

Protein Domains for HHATL Gene

Suggested Antigen Peptide Sequences for HHATL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9HCP6

UniProtKB/Swiss-Prot:

HHATL_HUMAN :
  • Belongs to the membrane-bound acyltransferase family. HHAT subfamily.
Family:
  • Belongs to the membrane-bound acyltransferase family. HHAT subfamily.
genes like me logo Genes that share domains with HHATL: view

Function for HHATL Gene

Molecular function for HHATL Gene

UniProtKB/Swiss-Prot Function:
Negatively regulates N-terminal palmitoylation of SHH by HHAT/SKN.

Phenotypes From GWAS Catalog for HHATL Gene

genes like me logo Genes that share phenotypes with HHATL: view

Animal Model Products

CRISPR Products

miRNA for HHATL Gene

miRTarBase miRNAs that target HHATL

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HHATL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HHATL Gene

Localization for HHATL Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHATL Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HHATL gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for HHATL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0048471 perinuclear region of cytoplasm IDA 11374908
genes like me logo Genes that share ontologies with HHATL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HHATL Gene

Pathways & Interactions for HHATL Gene

SuperPathways for HHATL Gene

No Data Available

Gene Ontology (GO) - Biological Process for HHATL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0060262 negative regulation of N-terminal protein palmitoylation IEA,ISS --
genes like me logo Genes that share ontologies with HHATL: view

No data available for Pathways by source and SIGNOR curated interactions for HHATL Gene

Drugs & Compounds for HHATL Gene

(1) Drugs for HHATL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HHATL: view

Transcripts for HHATL Gene

Unigene Clusters for HHATL Gene

Hedgehog acyltransferase-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HHATL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HHATL Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14
SP1: - -
SP2: - - - - -
SP3: - - - -
SP4: - - - -
SP5: -
SP6:
SP7: -
SP8:

Relevant External Links for HHATL Gene

GeneLoc Exon Structure for
HHATL
ECgene alternative splicing isoforms for
HHATL

Expression for HHATL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HHATL Gene

mRNA differential expression in normal tissues according to GTEx for HHATL Gene

This gene is overexpressed in Heart - Left Ventricle (x12.7), Heart - Atrial Appendage (x9.7), Brain - Spinal cord (cervical c-1) (x6.8), and Muscle - Skeletal (x6.0).

Protein differential expression in normal tissues from HIPED for HHATL Gene

This gene is overexpressed in Heart (55.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HHATL Gene



Protein tissue co-expression partners for HHATL Gene

NURSA nuclear receptor signaling pathways regulating expression of HHATL Gene:

HHATL

SOURCE GeneReport for Unigene cluster for HHATL Gene:

Hs.476041

mRNA Expression by UniProt/SwissProt for HHATL Gene:

Q9HCP6-HHATL_HUMAN
Tissue specificity: Heart-specific.

Evidence on tissue expression from TISSUES for HHATL Gene

  • Nervous system(4.8)
  • Heart(4.5)
  • Muscle(4.5)
genes like me logo Genes that share expression patterns with HHATL: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HHATL Gene

Orthologs for HHATL Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HHATL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIAA1173 33
  • 99.26 (n)
HHATL 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HHATL 33 34
  • 92.06 (n)
cow
(Bos Taurus)
Mammalia HHATL 33 34
  • 89.68 (n)
mouse
(Mus musculus)
Mammalia Hhatl 33 16 34
  • 87.48 (n)
rat
(Rattus norvegicus)
Mammalia Hhatl 33
  • 87.34 (n)
oppossum
(Monodelphis domestica)
Mammalia HHATL 34
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHATL 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHATL 33 34
  • 70.38 (n)
lizard
(Anolis carolinensis)
Reptilia HHATL 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hhatl 33
  • 64.67 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53261 33
zebrafish
(Danio rerio)
Actinopterygii hhatla 33 34
  • 65.46 (n)
hhatlb 34
  • 53 (a)
OneToMany
zgc77750 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUP1 34
  • 17 (a)
ManyToMany
GUP2 34
  • 15 (a)
ManyToMany
Species where no ortholog for HHATL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)

Evolution for HHATL Gene

ENSEMBL:
Gene Tree for HHATL (if available)
TreeFam:
Gene Tree for HHATL (if available)

Paralogs for HHATL Gene

Paralogs for HHATL Gene

genes like me logo Genes that share paralogs with HHATL: view

Variants for HHATL Gene

Sequence variations from dbSNP and Humsavar for HHATL Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000334203 -- 42,695,433(+) CCCCA(C/T)GGGGG intron-variant
rs1000407742 -- 42,695,738(+) TACTT(A/G)TCTAC intron-variant
rs1000455196 -- 42,703,610(+) TCTGT(A/G)CTATC upstream-variant-2KB
rs1000654399 -- 42,698,386(+) CACTA(C/G)GGTGC intron-variant
rs1000728499 -- 42,692,695(+) GGTCA(A/G)GCCCC nc-transcript-variant, downstream-variant-500B, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HHATL Gene

Variant ID Type Subtype PubMed ID
nsv954472 CNV deletion 24416366

Variation tolerance for HHATL Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.46; 43.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HHATL Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HHATL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHATL Gene

Disorders for HHATL Gene

MalaCards: The human disease database

(1) MalaCards diseases for HHATL Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
skin squamous cell carcinoma
  • epidermoid skin carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search HHATL in MalaCards View complete list of genes associated with diseases

Relevant External Links for HHATL

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HHATL
genes like me logo Genes that share disorders with HHATL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HHATL Gene

Publications for HHATL Gene

  1. Isolation of novel heart-specific genes using the BodyMap database. (PMID: 11374908) Soejima H … Mukai T (Genomics 2001) 2 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 60
  4. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PMID: 21078624) Kahle JJ … Zoghbi HY (Human molecular genetics 2011) 3 60
  5. [Expression, clinical and pathological significance of KIAA1173 gene in skin squamous cell carcinoma]. (PMID: 20646595) Zhang SQ … Zhang XB (Zhonghua yi xue za zhi 2010) 3 60

Products for HHATL Gene

Sources for HHATL Gene

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