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HHAT hedgehog acyltransferase [ Homo sapiens (human) ]

Gene ID: 55733, updated on 21-Dec-2019

Summary

Official Symbol
HHATprovided by HGNC
Official Full Name
hedgehog acyltransferaseprovided by HGNC
Primary source
HGNC:HGNC:18270
See related
Ensembl:ENSG00000054392 MIM:605743
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; 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

Genomic context

See HHAT in Genome Data Viewer
Location:
1q32.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (210327873..210676298)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (210501596..210849638)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2602 Neighboring gene ribonuclease H1 pseudogene 3 Neighboring gene Sharpr-MPRA regulatory region 10816 Neighboring gene RNA, U5A small nuclear 8, pseudogene Neighboring gene 3'(2'), 5'-bisphosphate nucleotidase 2, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1701 Neighboring gene uncharacterized LOC105372901 Neighboring gene potassium voltage-gated channel subfamily H member 1 Neighboring gene importin 8 pseudogene 1

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • FLJ10724, FLJ34867

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
O-acyltransferase activity TAS
Traceable Author Statement
more info
 
palmitoyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transferase activity, transferring acyl groups IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
protein palmitoylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

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_001122834.3NP_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
    Q5VTY9
    Related
    ENSP00000416845.2, ENST00000413764.6
    Conserved Domains (1) summary
    pfam03062
    Location:150442
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  2. NM_001170564.2NP_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:99305
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  3. NM_001170580.3NP_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
    Q5VTY9
    Related
    ENSP00000355977.1, ENST00000367010.5
    Conserved Domains (1) summary
    pfam03062
    Location:150442
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. NM_001170587.2NP_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/Swiss-Prot
    Q5VTY9
    Related
    ENSP00000438468.1, ENST00000545154.5
    Conserved Domains (1) summary
    pfam03062
    Location:151443
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  5. NM_001170588.2NP_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/Swiss-Prot
    Q5VTY9
    Related
    ENSP00000442625.1, ENST00000537898.5
    Conserved Domains (1) summary
    pfam03062
    Location:91377
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  6. NM_018194.6NP_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
    Q5VTY9
    UniProtKB/TrEMBL
    B7Z5N1
    Related
    ENSP00000261458.3, ENST00000261458.8
    Conserved Domains (1) summary
    pfam03062
    Location:150442
    MBOAT; MBOAT, membrane-bound O-acyltransferase family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    210327873..210676298
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017001744.1XP_016857233.1  protein-cysteine N-palmitoyltransferase HHAT isoform X17

  2. XM_017001733.1XP_016857222.1  protein-cysteine N-palmitoyltransferase HHAT isoform X11

  3. XM_017001736.1XP_016857225.1  protein-cysteine N-palmitoyltransferase HHAT isoform X14

    Conserved Domains (1) summary
    pfam03062
    Location:87379
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  4. XM_011509741.2XP_011508043.1  protein-cysteine N-palmitoyltransferase HHAT isoform X6

    See identical proteins and their annotated locations for XP_011508043.1

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    pfam03062
    Location:150442
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  5. XM_017001738.1XP_016857227.1  protein-cysteine N-palmitoyltransferase HHAT isoform X16

  6. XM_017001729.1XP_016857218.1  protein-cysteine N-palmitoyltransferase HHAT isoform X6

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    pfam03062
    Location:150442
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  7. XM_017001731.1XP_016857220.1  protein-cysteine N-palmitoyltransferase HHAT isoform X8

  8. XM_017001739.1XP_016857228.1  protein-cysteine N-palmitoyltransferase HHAT isoform X17

  9. XM_011509746.2XP_011508048.1  protein-cysteine N-palmitoyltransferase HHAT isoform X12

    See identical proteins and their annotated locations for XP_011508048.1

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    pfam03062
    Location:91377
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  10. XM_017001730.1XP_016857219.1  protein-cysteine N-palmitoyltransferase HHAT isoform X8

  11. XM_017001734.1XP_016857223.1  protein-cysteine N-palmitoyltransferase HHAT isoform X13

    UniProtKB/TrEMBL
    B7Z2U8
    Conserved Domains (1) summary
    pfam03062
    Location:105397
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  12. XM_011509739.2XP_011508041.1  protein-cysteine N-palmitoyltransferase HHAT isoform X6

    See identical proteins and their annotated locations for XP_011508041.1

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    pfam03062
    Location:150442
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  13. XM_011509747.1XP_011508049.1  protein-cysteine N-palmitoyltransferase HHAT isoform X14

    See identical proteins and their annotated locations for XP_011508049.1

    Conserved Domains (1) summary
    pfam03062
    Location:87379
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  14. XM_011509738.2XP_011508040.1  protein-cysteine N-palmitoyltransferase HHAT isoform X5

    See identical proteins and their annotated locations for XP_011508040.1

    Conserved Domains (1) summary
    pfam03062
    Location:151443
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  15. XM_017001743.1XP_016857232.1  protein-cysteine N-palmitoyltransferase HHAT isoform X17

  16. XM_017001726.1XP_016857215.1  protein-cysteine N-palmitoyltransferase HHAT isoform X1

  17. XM_017001728.1XP_016857217.1  protein-cysteine N-palmitoyltransferase HHAT isoform X3

  18. XM_011509744.2XP_011508046.1  protein-cysteine N-palmitoyltransferase HHAT isoform X9

    See identical proteins and their annotated locations for XP_011508046.1

    Conserved Domains (1) summary
    pfam03062
    Location:103395
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  19. XM_011509740.2XP_011508042.1  protein-cysteine N-palmitoyltransferase HHAT isoform X6

    See identical proteins and their annotated locations for XP_011508042.1

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    pfam03062
    Location:150442
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  20. XM_011509737.2XP_011508039.1  protein-cysteine N-palmitoyltransferase HHAT isoform X2

    See identical proteins and their annotated locations for XP_011508039.1

    Conserved Domains (1) summary
    pfam03062
    Location:184476
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  21. XM_006711441.3XP_006711504.1  protein-cysteine N-palmitoyltransferase HHAT isoform X4

    See identical proteins and their annotated locations for XP_006711504.1

    Conserved Domains (1) summary
    pfam03062
    Location:184476
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  22. XM_011509742.2XP_011508044.1  protein-cysteine N-palmitoyltransferase HHAT isoform X7

    See identical proteins and their annotated locations for XP_011508044.1

    Conserved Domains (1) summary
    pfam03062
    Location:96411
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  23. XM_017001742.1XP_016857231.1  protein-cysteine N-palmitoyltransferase HHAT isoform X17

  24. XM_017001740.1XP_016857229.1  protein-cysteine N-palmitoyltransferase HHAT isoform X17

  25. XM_017001732.1XP_016857221.1  protein-cysteine N-palmitoyltransferase HHAT isoform X10

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    pfam03062
    Location:91377
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  26. XM_017001737.1XP_016857226.1  protein-cysteine N-palmitoyltransferase HHAT isoform X15

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    cl00738
    Location:99305
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  27. XM_017001735.1XP_016857224.1  protein-cysteine N-palmitoyltransferase HHAT isoform X10

    UniProtKB/Swiss-Prot
    Q5VTY9
    Conserved Domains (1) summary
    pfam03062
    Location:91377
    MBOAT; MBOAT, membrane-bound O-acyltransferase family
  28. XM_017001741.1XP_016857230.1  protein-cysteine N-palmitoyltransferase HHAT isoform X17

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332687.1 Reference GRCh38.p13 PATCHES

    Range
    107994..459395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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