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    HHATL hedgehog acyltransferase like [ Homo sapiens (human) ]

    Gene ID: 57467, updated on 10-Dec-2024

    Summary

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    Official Symbol
    HHATLprovided by HGNC
    Official Full Name
    hedgehog acyltransferase likeprovided by HGNC
    Primary source
    HGNC:HGNC:13242
    See related
    Ensembl:ENSG00000010282 MIM:608116; AllianceGenome:HGNC:13242
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GUP1; OACT3; C3orf3; MBOAT3; MSTP002
    Summary
    Predicted to enable acyltransferase activity. Predicted to be involved in negative regulation of N-terminal protein palmitoylation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward heart (RPKM 165.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See HHATL in Genome Data Viewer
    Location:
    3p22.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (42692663..42702798, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (42710674..42720816, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42734155..42744290, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906232 Neighboring gene RNA, 7SL, cytoplasmic 567, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42724685-42725186 Neighboring gene Sharpr-MPRA regulatory region 14812 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:42729552-42729776 Neighboring gene kelch like family member 40 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:42737916-42738518 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14249 Neighboring gene HHATL antisense RNA 1 Neighboring gene coiled-coil domain containing 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42771937-42772436 Neighboring gene Sharpr-MPRA regulatory region 2509 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:42774613-42775298 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:42775299-42775982 Neighboring gene CCDC13 antisense RNA 1 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:42777355-42778040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42788170-42788670 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:42788671-42789171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14250 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19750 Neighboring gene CCDC13 antisense RNA 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. [Expression, clinical and pathological significance of KIAA1173 gene in skin squamous cell carcinoma]. Zhang SQ, et al. Zhonghua Yi Xue Za Zhi, 2010 May 11. PMID 20646595
    2. Isolation of novel heart-specific genes using the BodyMap database. Soejima H, et al. Genomics, 2001 May 15. PMID 11374908
    3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. Hirosawa M, et al. DNA Res, 1999 Oct 29. PMID 10574461
    4. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Kahle JJ, et al. Hum Mol Genet, 2011 Feb 1. PMID 21078624, Free PMC Article
    5. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. KIAA1173 gene is highly expressed in normal skin, but it becomes down-regulated in skin squamous cell carcinoma.
      Title: [Expression, clinical and pathological significance of KIAA1173 gene in skin squamous cell carcinoma].
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1173

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in negative regulation of N-terminal protein palmitoylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein-cysteine N-palmitoyltransferase HHAT-like protein
    Names
    GUP1 glycerol uptake/transporter homolog
    glycerol uptake/transporter homolog
    hedgehog acyltransferase-like protein
    membrane bound O-acyltransferase domain containing 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020707.4 → NP_065758.3  protein-cysteine N-palmitoyltransferase HHAT-like protein

      See identical proteins and their annotated locations for NP_065758.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AB042554, AF109356, BI544867
      Consensus CDS
      CCDS2704.1
      UniProtKB/Swiss-Prot
      Q8TBG3, Q9HCP6, Q9ULP7
      Related
      ENSP00000405423.1, ENST00000441594.6
      Conserved Domains (1) summary
      cl00738
      Location:136 → 450
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    RNA

    1. NR_027753.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains alternate 5' exons, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB042554, AF109356, BC022529, BI596471

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      42692663..42702798 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006938.2 → XP_016862427.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X4

      Conserved Domains (1) summary
      cl00738
      Location:102 → 385
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    2. XM_006713274.3 → XP_006713337.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X2

      See identical proteins and their annotated locations for XP_006713337.1

      UniProtKB/Swiss-Prot
      Q8TBG3, Q9HCP6, Q9ULP7
      Conserved Domains (1) summary
      cl00738
      Location:136 → 450
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    3. XM_006713275.3 → XP_006713338.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X4

      Conserved Domains (1) summary
      cl00738
      Location:102 → 385
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    4. XM_011533970.3 → XP_011532272.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X3

      Conserved Domains (1) summary
      cl00738
      Location:125 → 408
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    5. XM_011533969.3 → XP_011532271.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X1

      Conserved Domains (1) summary
      cl00738
      Location:159 → 473
      MBOAT; membrane-bound O-acyltransferase family

    6. XM_017006936.2 → XP_016862425.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X2

      UniProtKB/Swiss-Prot
      Q8TBG3, Q9HCP6, Q9ULP7
      Related
      ENSP00000310621.5, ENST00000310417.9
      Conserved Domains (1) summary
      cl00738
      Location:136 → 450
      MBOAT; MBOAT, membrane-bound O-acyltransferase family

    7. XM_017006935.2 → XP_016862424.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X1

      Conserved Domains (1) summary
      cl00738
      Location:159 → 473
      MBOAT; membrane-bound O-acyltransferase family

    8. XM_047448635.1 → XP_047304591.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X6

    9. XM_047448634.1 → XP_047304590.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X5

    10. XM_047448636.1 → XP_047304592.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      42710674..42720816 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347385.1 → XP_054203360.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X4

    2. XM_054347381.1 → XP_054203356.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X2

    3. XM_054347384.1 → XP_054203359.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X4

    4. XM_054347383.1 → XP_054203358.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X3

    5. XM_054347380.1 → XP_054203355.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X1

    6. XM_054347382.1 → XP_054203357.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X2

    7. XM_054347379.1 → XP_054203354.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X1

    8. XM_054347387.1 → XP_054203362.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X6

    9. XM_054347386.1 → XP_054203361.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X5

    10. XM_054347388.1 → XP_054203363.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HCP6.1 GenPept UniProtKB/Swiss-Prot:Q9HCP6

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