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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
  • 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.

No data available for Entrez Gene 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

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

Proteomics data for HHATL Gene at MOPED

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.
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

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
Jensen Localization Image for HHATL Gene 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: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

Pathways & Interactions for HHATL Gene

SuperPathways for HHATL Gene

No Data Available

Interacting Proteins for HHATL Gene

Gene Ontology (GO) - Biological Process for HHATL Gene

None

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:

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 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



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.
genes like me logo Genes that share expression patterns with HHATL: view

Protein tissue co-expression partners for HHATL Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.26 (n)
  • 99.26 (a)
HHATL 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HHATL 36
  • 83 (a)
OneToOne
HHATL 35
  • 89.68 (n)
  • 92.86 (a)
dog
(Canis familiaris)
Mammalia HHATL 35
  • 92.06 (n)
  • 94.05 (a)
HHATL 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hhatl 36
  • 91 (a)
OneToOne
Hhatl 16
Hhatl 35
  • 87.48 (n)
  • 91.05 (a)
oppossum
(Monodelphis domestica)
Mammalia HHATL 36
  • 75 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHATL 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hhatl 35
  • 87.34 (n)
  • 91.25 (a)
chicken
(Gallus gallus)
Aves HHATL 36
  • 68 (a)
OneToOne
HHATL 35
  • 70.38 (n)
  • 67.99 (a)
lizard
(Anolis carolinensis)
Reptilia HHATL 36
  • 65 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC53261 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hhatl 35
  • 64.67 (n)
  • 65.27 (a)
zebrafish
(Danio rerio)
Actinopterygii hhatla 36
  • 63 (a)
OneToMany
hhatlb 36
  • 53 (a)
OneToMany
hhatla 35
  • 65.46 (n)
  • 64.39 (a)
zgc77750 35
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GUP1 36
  • 17 (a)
ManyToMany
GUP2 36
  • 15 (a)
ManyToMany
Species with no ortholog for HHATL:
  • 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
rs11079 - 42,693,658(-) TCTGG(A/G)TGCAA nc-transcript-variant, reference, missense
rs443859 -- 42,701,605(-) GCCCT(C/G)CCTGG intron-variant, upstream-variant-2KB
rs339687 -- 42,700,020(-) ACACA(C/G)ACACA intron-variant
rs11541711 -- 42,700,831(+) TAGCC(C/T)GGACA nc-transcript-variant, reference, missense, utr-variant-5-prime
rs13086709 -- 42,700,785(+) GAGTA(C/G/T)AGGCC nc-transcript-variant, reference, synonymous-codon

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

HapMap Linkage Disequilibrium report
HHATL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) 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 67
  2. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. (PMID: 21078624) Kahle J.J. … Zoghbi H.Y. (Hum. Mol. Genet. 2011) 3
  3. [Expression, clinical and pathological significance of KIAA1173 gene in skin squamous cell carcinoma]. (PMID: 20646595) Zhang S.Q. … Zhang X.B. (Zhonghua Yi Xue Za Zhi 2010) 3
  4. The zebrafish genome encodes the largest vertebrate repertoire of functional aquaporins with dual paralogy and substrate specificities similar to mammals. (PMID: 20149227) Tingaud-Sequeira A. … CerdA J. (BMC Evol. Biol. 2010) 23
  5. Skin aquaporins: function in hydration, wound healing, and skin epidermis homeostasis. (PMID: 19096779) Boury-Jamot M. … Verbavatz J.M. (Handb Exp Pharmacol 2009) 23

Products for HHATL Gene

Sources for HHATL Gene

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