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HHAT hedgehog acyltransferase [ Homo sapiens (human) ]

Gene ID: 55733, updated on 2-Nov-2024

Summary

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Official Symbol
HHATprovided by HGNC
Official Full Name
hedgehog acyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:18270
See related
Ensembl:ENSG00000054392 MIM:605743; AllianceGenome:HGNC:18270
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
Skn; NNMS; SKI1; MART2
Summary
'Skinny hedgehog' (SKI1) encodes an enzyme that acts within the secretory pathway to catalyze amino-terminal palmitoylation of 'hedgehog' (see MIM 600725).[supplied by OMIM, Jul 2002]
Expression
Ubiquitous expression in thyroid (RPKM 3.0), gall bladder (RPKM 1.6) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See HHAT in Genome Data Viewer
Location:
1q32.2
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (210327328..210676290)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (209566001..209918121)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (210501596..210849632)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:210484426-210485625 Neighboring gene uncharacterized LOC124904502 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3009 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1779 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2478 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3018 Neighboring gene ribonuclease H1 pseudogene 3 Neighboring gene uncharacterized LOC124904503 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:210546392-210547304 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:210547305-210548216 Neighboring gene Sharpr-MPRA regulatory region 10816 Neighboring gene RNA, U5A small nuclear 8, pseudogene Neighboring gene BPNT2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:210770524-210771385 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:210771386-210772246 Neighboring gene Sharpr-MPRA regulatory region 1701 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2479 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2480 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:210863521-210864021 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2481 Neighboring gene uncharacterized LOC105372901 Neighboring gene MPRA-validated peak678 silencer Neighboring gene MPRA-validated peak679 silencer Neighboring gene potassium voltage-gated channel subfamily H member 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3130 Neighboring gene importin 8 pseudogene 1

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 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. Isolation of a new melanoma antigen, MART-2, containing a mutated epitope recognized by autologous tumor-infiltrating T lymphocytes. Kawakami Y, et al. J Immunol, 2001 Feb 15. PMID 11160356
  2. Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates. Schonbrun AR, et al. J Biol Chem, 2022 Oct. PMID 36030053, Free PMC Article
  3. A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis. Mazen I, et al. Sex Dev, 2022. PMID 35045414
  4. Structure, mechanism, and inhibition of Hedgehog acyltransferase. Coupland CE, et al. Mol Cell, 2021 Dec 16. PMID 34890564, Free PMC Article
  5. Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. Pande S, et al. Am J Med Genet A, 2021 Sep. PMID 33749989, Free PMC Article

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
    Title: Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
  2. A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
    Title: A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
  3. Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates.
    Title: Hedgehog acyltransferase catalyzes a random sequential reaction and utilizes multiple fatty acyl-CoA substrates.
  4. Structure, mechanism, and inhibition of Hedgehog acyltransferase.
    Title: Structure, mechanism, and inhibition of Hedgehog acyltransferase.
  5. Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.
    Title: Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.
  6. Substrate and product complexes reveal mechanisms of Hedgehog acylation by HHAT.
    Title: Substrate and product complexes reveal mechanisms of Hedgehog acylation by HHAT.
  7. we confirm that biallelic loss of function HHAT variant ( likely deleterious) cause microcephaly, skeletal dysplasia and cerebellar vermis hypoplasia.
    Title: Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.
  8. HHAT is regulated in SSc in a TGFbeta-dependent manner and in turn stimulates TGFbeta-induced long-range hedgehog signalling to promote fibroblast activation and tissue fibrosis. Targeting of HHAT might be a novel approach to more selectively interfere with the profibrotic effects of long-range hedgehog signalling.
    Title: Acyltransferase skinny hedgehog regulates TGFβ-dependent fibroblast activation in SSc.
  9. Hhat plays a critical role in ER positive, HER2 amplified, and hormone resistant breast cancer proliferation.
    Title: Hedgehog Acyltransferase as a target in estrogen receptor positive, HER2 amplified, and tamoxifen resistant breast cancer cells.
  10. Data suggest that substrate specificity of hedgehog acyltransferase (HHAT) in palmitoylation reaction extends to oligopeptide fragments of Sonic hedgehog protein (SHH).
    Title: Click chemistry armed enzyme-linked immunosorbent assay to measure palmitoylation by hedgehog acyltransferase.
Submit: New GeneRIF Correction See all GeneRIFs (18)

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

Associated conditions

Description Tests
Chondrodysplasia-pseudohermaphroditism syndrome
MedGen: C1838654 OMIM: 600092 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10724, FLJ34867

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTP binding IEA
Inferred from Electronic Annotation
more info
  
enables O-acyltransferase activity TAS
Traceable Author Statement
more info
  
enables palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-terminal peptidyl-L-cysteine N-palmitoylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
protein-cysteine N-palmitoyltransferase HHAT
Names
melanoma antigen recognized by T-cells 2
skinny hedgehog protein 1

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_001122834.4 → NP_001116306.1  protein-cysteine N-palmitoyltransferase HHAT isoform 1

    See identical proteins and their annotated locations for NP_001116306.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 6 encode the same isoform (1).
    Source sequence(s)
    AC217414, AL034351, BC117130, DB080645
    Consensus CDS
    CCDS1495.1
    UniProtKB/Swiss-Prot
    B7Z4D5, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q5VTY9, Q9NVH9, Q9Y3N8
    UniProtKB/TrEMBL
    Q05BM0
    Related
    ENSP00000416845.2, ENST00000413764.6
    Conserved Domains (1) summary
    pfam03062
    Location:150 → 442
    MBOAT; membrane-bound O-acyltransferase family

  2. NM_001170564.3 → NP_001164035.1  protein-cysteine N-palmitoyltransferase HHAT isoform 2

    See identical proteins and their annotated locations for NP_001164035.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and lacks two in-frame exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC217414, AK297193, DB080645
    Consensus CDS
    CCDS53473.1
    UniProtKB/Swiss-Prot
    Q5VTY9
    Related
    ENSP00000444995.1, ENST00000541565.5
    Conserved Domains (1) summary
    cl00738
    Location:99 → 305
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  3. NM_001170580.3 → NP_001164051.1  protein-cysteine N-palmitoyltransferase HHAT isoform 1

    See identical proteins and their annotated locations for NP_001164051.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 6 encode the same isoform (1).
    Source sequence(s)
    AC217414, AL034351, BC051191
    Consensus CDS
    CCDS1495.1
    UniProtKB/Swiss-Prot
    B7Z4D5, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q5VTY9, Q9NVH9, Q9Y3N8
    UniProtKB/TrEMBL
    Q05BM0
    Related
    ENSP00000355977.1, ENST00000367010.5
    Conserved Domains (1) summary
    pfam03062
    Location:150 → 442
    MBOAT; membrane-bound O-acyltransferase family

  4. NM_001170587.3 → NP_001164058.1  protein-cysteine N-palmitoyltransferase HHAT isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and 5' coding region and initiates translation at an upstream start codon, compared to variant 1. The encoded isoform (4) has a longer N-terminus, compared to isoform (1).
    Source sequence(s)
    AC217414, AK302955, AL034351, AL035414
    Consensus CDS
    CCDS53471.1
    UniProtKB/TrEMBL
    B7Z2U8
    Related
    ENSP00000438468.1, ENST00000545154.5
    Conserved Domains (1) summary
    pfam03062
    Location:151 → 443
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  5. NM_001170588.3 → NP_001164059.1  protein-cysteine N-palmitoyltransferase HHAT isoform 3

    See identical proteins and their annotated locations for NP_001164059.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an in-frame exon in the coding region compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
    Source sequence(s)
    AC217414, AK298991, AL034351, AL035414
    Consensus CDS
    CCDS53472.1
    UniProtKB/TrEMBL
    Q05BM0
    Related
    ENSP00000442625.1, ENST00000537898.5
    Conserved Domains (1) summary
    pfam03062
    Location:91 → 377
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  6. NM_018194.6 → NP_060664.2  protein-cysteine N-palmitoyltransferase HHAT isoform 1

    See identical proteins and their annotated locations for NP_060664.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform (1). Variants 1, 2 and 6 encode the same isoform (1).
    Source sequence(s)
    AC217414, AK001586, AK299200, AL034351, AL035414, AL691441
    Consensus CDS
    CCDS1495.1
    UniProtKB/Swiss-Prot
    B7Z4D5, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q5VTY9, Q9NVH9, Q9Y3N8
    UniProtKB/TrEMBL
    Q05BM0
    Related
    ENSP00000261458.3, ENST00000261458.8
    Conserved Domains (1) summary
    pfam03062
    Location:150 → 442
    MBOAT; membrane-bound O-acyltransferase family

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    210327328..210676290
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047424804.1 → XP_047280760.1  protein-cysteine N-palmitoyltransferase HHAT isoform X4

    UniProtKB/Swiss-Prot
    B7Z4D5, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q5VTY9, Q9NVH9, Q9Y3N8

  2. XM_047424811.1 → XP_047280767.1  protein-cysteine N-palmitoyltransferase HHAT isoform X8

  3. XM_047424806.1 → XP_047280762.1  protein-cysteine N-palmitoyltransferase HHAT isoform X7

  4. XM_047424835.1 → XP_047280791.1  protein-cysteine N-palmitoyltransferase HHAT isoform X12

  5. XM_011509747.2 → XP_011508049.1  protein-cysteine N-palmitoyltransferase HHAT isoform X6

    See identical proteins and their annotated locations for XP_011508049.1

    UniProtKB/TrEMBL
    B7Z5N1
    Conserved Domains (1) summary
    pfam03062
    Location:87 → 379
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  6. XM_047424829.1 → XP_047280785.1  protein-cysteine N-palmitoyltransferase HHAT isoform X11

  7. XM_047424823.1 → XP_047280779.1  protein-cysteine N-palmitoyltransferase HHAT isoform X10

  8. XM_047424791.1 → XP_047280747.1  protein-cysteine N-palmitoyltransferase HHAT isoform X1

  9. XM_006711441.4 → XP_006711504.1  protein-cysteine N-palmitoyltransferase HHAT isoform X2

    See identical proteins and their annotated locations for XP_006711504.1

    UniProtKB/TrEMBL
    Q05BM0
    Conserved Domains (1) summary
    pfam03062
    Location:184 → 476
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

  10. XM_047424805.1 → XP_047280761.1  protein-cysteine N-palmitoyltransferase HHAT isoform X5

  11. XM_047424817.1 → XP_047280773.1  protein-cysteine N-palmitoyltransferase HHAT isoform X9

  12. XM_047424802.1 → XP_047280758.1  protein-cysteine N-palmitoyltransferase HHAT isoform X3

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_011332687.1 Reference GRCh38.p14 PATCHES

    Range
    107070..459389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331653.1 → XP_054187628.1  protein-cysteine N-palmitoyltransferase HHAT isoform X4

    UniProtKB/Swiss-Prot
    B7Z4D5, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q5VTY9, Q9NVH9, Q9Y3N8

  2. XM_054331657.1 → XP_054187632.1  protein-cysteine N-palmitoyltransferase HHAT isoform X8

  3. XM_054331656.1 → XP_054187631.1  protein-cysteine N-palmitoyltransferase HHAT isoform X7

  4. XM_054331661.1 → XP_054187636.1  protein-cysteine N-palmitoyltransferase HHAT isoform X12

  5. XM_054331655.1 → XP_054187630.1  protein-cysteine N-palmitoyltransferase HHAT isoform X6

  6. XM_054331660.1 → XP_054187635.1  protein-cysteine N-palmitoyltransferase HHAT isoform X11

  7. XM_054331659.1 → XP_054187634.1  protein-cysteine N-palmitoyltransferase HHAT isoform X10

  8. XM_054331650.1 → XP_054187625.1  protein-cysteine N-palmitoyltransferase HHAT isoform X1

  9. XM_054331651.1 → XP_054187626.1  protein-cysteine N-palmitoyltransferase HHAT isoform X2

  10. XM_054331652.1 → XP_054187627.1  protein-cysteine N-palmitoyltransferase HHAT isoform X3

  11. XM_054331654.1 → XP_054187629.1  protein-cysteine N-palmitoyltransferase HHAT isoform X13

  12. XM_054331658.1 → XP_054187633.1  protein-cysteine N-palmitoyltransferase HHAT isoform X14

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    209566001..209918121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337578.1 → XP_054193553.1  protein-cysteine N-palmitoyltransferase HHAT isoform X4

    UniProtKB/Swiss-Prot
    B7Z4D5, B7Z5I1, B7Z868, B7ZA75, D3DT91, F5H444, Q17RZ7, Q4G0K3, Q5CZ95, Q5TGI2, Q5VTY9, Q9NVH9, Q9Y3N8

  2. XM_054337582.1 → XP_054193557.1  protein-cysteine N-palmitoyltransferase HHAT isoform X8

  3. XM_054337581.1 → XP_054193556.1  protein-cysteine N-palmitoyltransferase HHAT isoform X7

  4. XM_054337586.1 → XP_054193561.1  protein-cysteine N-palmitoyltransferase HHAT isoform X12

  5. XM_054337580.1 → XP_054193555.1  protein-cysteine N-palmitoyltransferase HHAT isoform X6

  6. XM_054337585.1 → XP_054193560.1  protein-cysteine N-palmitoyltransferase HHAT isoform X11

  7. XM_054337584.1 → XP_054193559.1  protein-cysteine N-palmitoyltransferase HHAT isoform X10

  8. XM_054337575.1 → XP_054193550.1  protein-cysteine N-palmitoyltransferase HHAT isoform X1

  9. XM_054337576.1 → XP_054193551.1  protein-cysteine N-palmitoyltransferase HHAT isoform X2

  10. XM_054337577.1 → XP_054193552.1  protein-cysteine N-palmitoyltransferase HHAT isoform X3

  11. XM_054337579.1 → XP_054193554.1  protein-cysteine N-palmitoyltransferase HHAT isoform X13

  12. XM_054337583.1 → XP_054193558.1  protein-cysteine N-palmitoyltransferase HHAT isoform X14

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VTY9.1 GenPept UniProtKB/Swiss-Prot:Q5VTY9

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