SCCPDH saccharopine dehydrogenase (putative) [Homo sapiens (human)] - Gene

Summary

Official Symbol: SCCPDHprovided by HGNC
Official Full Name: saccharopine dehydrogenase (putative)provided by HGNC
Primary source: HGNC:HGNC:24275
See related: Ensembl:ENSG00000143653 MIM:620831; AllianceGenome:HGNC:24275
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: CGI49; NET11; CGI-49
Summary: Predicted to enable oxidoreductase activity. Predicted to be involved in glycolipid biosynthetic process. Located in lipid droplet and midbody. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in testis (RPKM 87.1), liver (RPKM 34.8) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q44

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (246724409..246768137)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (246150883..246194527)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (246887711..246931439)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66228 (e-PCR)
- UniSTS:91656

RH66503 (e-PCR)
- UniSTS:59660

SHGC-152198 (e-PCR)
- UniSTS:177431

RH66307 (e-PCR)
- UniSTS:33061

D1S2836 (e-PCR), detects polymorphism
- UniSTS:80988

RH69726 (e-PCR)
- UniSTS:16293

G32308 (e-PCR)
- UniSTS:116903

SHGC-76638 (e-PCR)
- UniSTS:34517

SHGC-146601 (e-PCR)
- UniSTS:175318

A005Y30 (e-PCR)
- UniSTS:10746

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in glycolipid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in lipid droplet	IBA Inferred from Biological aspect of Ancestor more info
located_in lipid droplet	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	HDA more info	PubMed
located_in midbody	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in nucleus	HDA more info	PubMed
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: saccharopine dehydrogenase-like oxidoreductase

Names: epididymis secretory sperm binding protein; probable saccharopine dehydrogenase

NP_057086.2

EC 1.5.1.9

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.