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HHATL hedgehog acyltransferase like [ Homo sapiens (human) ]

Gene ID: 57467, updated on 27-Nov-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, Nov 2024]
Expression
Restricted expression toward heart (RPKM 165.4) See more
Orthologs
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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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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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