Format

Send to:

Choose Destination

HHATL hedgehog acyltransferase like [ Homo sapiens (human) ]

Gene ID: 57467, updated on 7-Jun-2020

Summary

Official Symbol
HHATLprovided by HGNC
Official Full Name
hedgehog acyltransferase likeprovided by HGNC
Primary source
HGNC:HGNC:13242
See related
Ensembl:ENSG00000010282 MIM:608116
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
Expression
Restricted expression toward heart (RPKM 165.4) See more
Orthologs

Genomic context

See HHATL in Genome Data Viewer
Location:
3p22.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (42692663..42702849, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (42734155..42744319, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 567, pseudogene Neighboring gene kelch like family member 40 Neighboring gene HHATL antisense RNA 1 Neighboring gene coiled-coil domain containing 13 Neighboring gene Sharpr-MPRA regulatory region 2509 Neighboring gene CCDC13 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 2158

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1173

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transferase activity, transferring acyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
negative regulation of N-terminal protein palmitoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of N-terminal protein palmitoylation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_020707.4NP_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
    Q9HCP6
    UniProtKB/TrEMBL
    A0A024R2M3, Q5QTR4
    Related
    ENSP00000405423.1, ENST00000441594.6
    Conserved Domains (1) summary
    cl00738
    Location:136450
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    42692663..42702849 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713275.2XP_006713338.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X4

    Conserved Domains (1) summary
    cl00738
    Location:102385
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. XM_017006938.1XP_016862427.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X4

    Conserved Domains (1) summary
    cl00738
    Location:102385
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. XM_011533970.2XP_011532272.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X3

    Conserved Domains (1) summary
    cl00738
    Location:125408
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. XM_011533969.2XP_011532271.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X1

    Conserved Domains (1) summary
    cl00738
    Location:159473
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  5. XM_017006936.1XP_016862425.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X2

    UniProtKB/Swiss-Prot
    Q9HCP6
    UniProtKB/TrEMBL
    A0A024R2M3
    Related
    ENSP00000310621.5, ENST00000310417.9
    Conserved Domains (1) summary
    cl00738
    Location:136450
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  6. XM_006713274.3XP_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
    Q9HCP6
    UniProtKB/TrEMBL
    A0A024R2M3
    Conserved Domains (1) summary
    cl00738
    Location:136450
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  7. XM_017006935.1XP_016862424.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X1

    Conserved Domains (1) summary
    cl00738
    Location:159473
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  8. XM_017006937.1XP_016862426.1  protein-cysteine N-palmitoyltransferase HHAT-like protein isoform X4

    Conserved Domains (1) summary
    cl00738
    Location:102385
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RNA

  1. XR_001740220.1 RNA Sequence

  2. XR_940484.2 RNA Sequence

  3. XR_940483.2 RNA Sequence

  4. XR_940482.2 RNA Sequence

  5. XR_001740219.2 RNA Sequence

  6. XR_001740221.1 RNA Sequence

  7. XR_002959565.1 RNA Sequence

Support Center