1. Gene
  2. HHATL - hedgehog acyltransferase like Gene

HHATL - hedgehog acyltransferase like Gene

Homo sapiens

Also known as GUP1; OACT3; C3orf3; MBOAT3; MSTP002

Gene ID: 57467 | Gene type: protein coding

About HHATL

Cytogenetic location: 3p22.1 Genomic coordinates (GRCh38): 3:42,692,663-42,702,798 (from NCBI)

This gene has 12 transcripts (splice variants), 248 orthologues and 1 paralogue. Restricted expression toward heart (RPKM 165.4).

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, Apr 2022]

HHATL Products(1)

mRNA Protein Name
NM_020707.4 NP_065758.3 protein-cysteine N-palmitoyltransferase HHAT-like protein

HHATL Protein Structure

MBOAT

MBOAT: MBOAT, membrane-bound O-acyltransferase family (186 - 406)

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  • 504 a.a.
Protein Preferred Names Protein Names

protein-cysteine N-palmitoyltransferase HHAT-like protein

GUP1 glycerol uptake/transporter homolog

Related Diseases

Diseases Alias
Nemaline Myopathy 8

NEM8

Nemaline Myopathy 8, Autosomal Recessive

Myopathy, Nemaline, Type 8

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9

Left Ventricular Noncompaction 5

Dilated Cardiomyopathy 1e

Dilated Cardiomyopathy 1s

CMD1E

Cdcd2

Cardiomyopathy, Dilated, 1y

CMD1Y

Cardiomyopathy, Dilated, 1s

CMD1S

Dilated Cardiomyopathy 1y

Dilated Cardiomyopathy With Conduction Defect 2

Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia

Cardiomyopathy, Dilated, With Conduction Defect 2

Cardiomyopathy Dilated With Conduction Defect Type 2

Cardiomyopathy, Dilated 1e

Cardiomyopathy, Dilated 1s

Cardiomyopathy, Dilated 1y

Left Ventricular Non-Compaction 5

LVNC5

Left Ventricular Non-Compaction 9

LVNC9

Cardiomyopathy, Dilated, Type 1e

Cardiomyopathy, Dilated, Type 1s

Cardiomyopathy, Dilated, Type 1y

Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease

Polycystic Kidney Disease 2

PKD2

Polycystic Kidney Disease, Adult, Type Ii

Apkd2

Polycystic Kidney Disease, Type 2

Adpkd2

Adult Polycystic Kidney Disease Type 2

Autosomal Dominant Polycystic Kidney Disease 2

Pkd-2

Polycystic Kidney Disease Adult Type Ii

Polycystic Kidney Type 2 Autosomal Dominant Disease

Kidney Disease, Polycystic, Type 2

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus HHATL VGNC VGNC:29838
Macaca mulatta HHATL VGNC VGNC:73161
Canis familiaris HHATL VGNC VGNC:49672
Felis catus HHATL VGNC VGNC:62808
Rattus norvegicus HHATL RGD RGD:1311911
Mus musculus HHATL MGD MGI:1922020