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AMDHD2 amidohydrolase domain containing 2 [ Homo sapiens (human) ]

Gene ID: 51005, updated on 23-Nov-2021

Summary

Official Symbol
AMDHD2provided by HGNC
Official Full Name
amidohydrolase domain containing 2provided by HGNC
Primary source
HGNC:HGNC:24262
See related
Ensembl:ENSG00000162066
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
CGI-14
Expression
Ubiquitous expression in spleen (RPKM 8.7), kidney (RPKM 8.5) and 25 other tissues See more
Orthologs
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Genomic context

See AMDHD2 in Genome Data Viewer
Location:
16p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (2520362..2531422)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2570372..2581418)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene TBC1 domain family member 24 Neighboring gene ATPase H+ transporting V0 subunit c Neighboring gene microRNA 3178 Neighboring gene cementum protein 1 Neighboring gene 3-phosphoinositide dependent protein kinase 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

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of amidohydrolase domain containing 2 (AMDHD2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables N-acetylgalactosamine-6-phosphate deacetylase activity IEA
Inferred from Electronic Annotation
more info
 
enables N-acetylglucosamine-6-phosphate deacetylase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables N-acetylglucosamine-6-phosphate deacetylase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables N-acetylglucosamine-6-phosphate deacetylase activity TAS
Traceable Author Statement
more info
 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in N-acetylglucosamine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in N-acetylneuraminate catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in N-acetylneuraminate catabolic process TAS
Traceable Author Statement
more info
PubMed 
involved_in UDP-N-acetylglucosamine biosynthetic process TAS
Traceable Author Statement
more info
 
involved_in carbohydrate metabolic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nucleus HDA PubMed 

General protein information

Preferred Names
N-acetylglucosamine-6-phosphate deacetylase
Names
amidohydrolase domain-containing protein 2
glcNAc 6-P deacetylase
putative N-acetylglucosamine-6-phosphate deacetylase
NP_001139287.1
NP_001317378.1
NP_057028.2
XP_016878752.1
XP_016878753.1
XP_016878754.1
XP_016878755.1
XP_016878756.1

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_001145815.2NP_001139287.1  N-acetylglucosamine-6-phosphate deacetylase isoform 2

    See identical proteins and their annotated locations for NP_001139287.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' structure and retains an intron in the 3' coding region compared to variant 3. The encoded isoform (2) is longer and has a distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    AK296877, CN362870
    Consensus CDS
    CCDS53984.1
    UniProtKB/Swiss-Prot
    Q9Y303
    Related
    ENSP00000391596.3, ENST00000413459.7
    Conserved Domains (1) summary
    cd00854
    Location:13428
    NagA; N-acetylglucosamine-6-phosphate deacetylase, NagA, catalyzes the hydrolysis of the N-acetyl group of N-acetyl-glucosamine-6-phosphate (GlcNAc-6-P) to glucosamine 6-phosphate and acetate. This is the first committed step in the biosynthetic pathway to ...
  2. NM_001330449.2NP_001317378.1  N-acetylglucosamine-6-phosphate deacetylase isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) encodes the shortest isoform (3).
    Source sequence(s)
    AC093525, BC018734
    Consensus CDS
    CCDS81936.1
    UniProtKB/Swiss-Prot
    Q9Y303
    Related
    ENSP00000293971.6, ENST00000293971.11
    Conserved Domains (1) summary
    cd00854
    Location:13398
    NagA; N-acetylglucosamine-6-phosphate deacetylase, NagA, catalyzes the hydrolysis of the N-acetyl group of N-acetyl-glucosamine-6-phosphate (GlcNAc-6-P) to glucosamine 6-phosphate and acetate. This is the first committed step in the biosynthetic pathway to ...
  3. NM_015944.4NP_057028.2  N-acetylglucosamine-6-phosphate deacetylase isoform 1

    See identical proteins and their annotated locations for NP_057028.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) retains an intron in the 3' coding region compared to variant 1. The encoded isoform (1) is longer than isoform 3.
    Source sequence(s)
    AC093525, BC018734, CN362870
    Consensus CDS
    CCDS10471.1
    UniProtKB/Swiss-Prot
    Q9Y303
    Related
    ENSP00000307481.4, ENST00000302956.8
    Conserved Domains (1) summary
    cd00854
    Location:13428
    NagA; N-acetylglucosamine-6-phosphate deacetylase, NagA, catalyzes the hydrolysis of the N-acetyl group of N-acetyl-glucosamine-6-phosphate (GlcNAc-6-P) to glucosamine 6-phosphate and acetate. This is the first committed step in the biosynthetic pathway to ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    2520362..2531422
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017023267.2XP_016878756.1  N-acetylglucosamine-6-phosphate deacetylase isoform X5

  2. XM_017023263.2XP_016878752.1  N-acetylglucosamine-6-phosphate deacetylase isoform X1

  3. XM_017023265.2XP_016878754.1  N-acetylglucosamine-6-phosphate deacetylase isoform X3

  4. XM_017023264.2XP_016878753.1  N-acetylglucosamine-6-phosphate deacetylase isoform X2

    Related
    ENSP00000498048.1, ENST00000648227.1
  5. XM_017023266.2XP_016878755.1  N-acetylglucosamine-6-phosphate deacetylase isoform X4

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