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ASPDH aspartate dehydrogenase domain containing [ Homo sapiens (human) ]

Gene ID: 554235, updated on 5-Mar-2024

Summary

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Official Symbol
ASPDHprovided by HGNC
Official Full Name
aspartate dehydrogenase domain containingprovided by HGNC
Primary source
HGNC:HGNC:33856
See related
Ensembl:ENSG00000204653 AllianceGenome:HGNC:33856
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
Summary
Predicted to enable NADP binding activity; aspartate dehydrogenase NAD activity; and aspartate dehydrogenase NADP activity. Predicted to be involved in NAD biosynthetic process. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver (RPKM 17.1), kidney (RPKM 16.9) and 2 other tissues See more
Orthologs
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Genomic context

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See ASPDH in Genome Data Viewer
Location:
19q13.33
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (50511603..50515101, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (53600457..53603534, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (51014860..51017941, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ER membrane protein complex subunit 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14991 Neighboring gene MYBPC2 cis regulating lncRNA enhancer of myogenesis Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51004588-51005251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013121-51013628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51013629-51014135 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10971 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14992 Neighboring gene uncharacterized LOC124904747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:51015053-51015642 Neighboring gene Josephin domain containing 2 Neighboring gene leucine rich repeat containing 4B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:51055019-51055930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10973 Neighboring gene CRISPRi-validated cis-regulatory element chr19.5650 Neighboring gene small NF90 (ILF3) associated RNA F

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
  • 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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GeneRIFs: Gene References Into Functions

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

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NADP binding IEA
Inferred from Electronic Annotation
more info
  
enables aspartate dehydrogenase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in NAD biosynthetic process IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
aspartate dehydrogenase domain-containing protein
Names
putative L-aspartate dehydrogenase
NP_001019827.2
NP_001108070.1
XP_024307353.1
XP_047295017.1
XP_047295018.1
XP_047295019.1

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_001024656.3 → NP_001019827.2  aspartate dehydrogenase domain-containing protein isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks several in-frame portions of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter, distinct N-terminus when compared to isoform 1. Isoform 2 lacks an N-terminus NAD-binding-3 domain, compared to isoform 1.
    Source sequence(s)
    BC066359, BM695973, BU729215
    Consensus CDS
    CCDS33082.1
    UniProtKB/Swiss-Prot
    A6ND91
    Related
    ENSP00000366114.2, ENST00000376916.7
    Conserved Domains (2) summary
    pfam01958
    Location:68 → 156
    DUF108; Domain of unknown function DUF108
    cl21454
    Location:12 → 35
    NADB_Rossmann; Rossmann-fold NAD(P)(+)-binding proteins

  2. NM_001114598.2 → NP_001108070.1  aspartate dehydrogenase domain-containing protein isoform 1

    See identical proteins and their annotated locations for NP_001108070.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC008743, BM924033, BU729215
    Consensus CDS
    CCDS46153.1
    UniProtKB/Swiss-Prot
    A6ND91, Q6NZ37
    Related
    ENSP00000373860.3, ENST00000389208.9
    Conserved Domains (2) summary
    pfam01958
    Location:173 → 261
    DUF108; Domain of unknown function DUF108
    pfam03447
    Location:13 → 123
    NAD_binding_3; Homoserine dehydrogenase, NAD binding domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    50511603..50515101 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047439062.1 → XP_047295018.1  aspartate dehydrogenase domain-containing protein isoform X2

  2. XM_047439061.1 → XP_047295017.1  aspartate dehydrogenase domain-containing protein isoform X1

  3. XM_047439063.1 → XP_047295019.1  aspartate dehydrogenase domain-containing protein isoform X4

  4. XM_024451585.2 → XP_024307353.1  aspartate dehydrogenase domain-containing protein isoform X3

    Conserved Domains (2) summary
    pfam03447
    Location:13 → 90
    NAD_binding_3; Homoserine dehydrogenase, NAD binding domain
    pfam01958
    Location:123 → 211
    DUF108; Domain of unknown function DUF108

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    53600457..53603534 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6ND91.2 GenPept UniProtKB/Swiss-Prot:A6ND91

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