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YJEFN3 YjeF N-terminal domain containing 3 [ Homo sapiens (human) ]

Gene ID: 374887, updated on 2-Nov-2024

Summary

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Official Symbol
YJEFN3provided by HGNC
Official Full Name
YjeF N-terminal domain containing 3provided by HGNC
Primary source
HGNC:HGNC:24785
See related
Ensembl:ENSG00000250067 MIM:618607; AllianceGenome:HGNC:24785
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 NAD(P)HX epimerase activity. Predicted to be involved in several processes, including hematopoietic stem cell proliferation; membrane raft distribution; and negative regulation of angiogenesis. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 3.9), brain (RPKM 3.2) and 23 other tissues See more
Orthologs
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Genomic context

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See YJEFN3 in Genome Data Viewer
Location:
19p13.11
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19528911..19537581)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19666386..19675069)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19639720..19648390)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10445 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14360 Neighboring gene NADH:ubiquinone oxidoreductase subunit A13 Neighboring gene testis specific serine kinase 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19635662-19636637 Neighboring gene Sharpr-MPRA regulatory region 9511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19638979-19639479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19640455-19641386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10447 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19650412-19651074 Neighboring gene Sharpr-MPRA regulatory region 4095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19656191-19656874 Neighboring gene cartilage intermediate layer protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19662820-19663379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19671101-19671600 Neighboring gene PBX homeobox 4 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:19686115-19686616 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:19686617-19687116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19690665-19691164 Neighboring gene PHF5A pseudogene 1

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 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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Related articles in PubMed

  1. ApoA-I-binding protein (AI-BP) and its homologues hYjeF_N2 and hYjeF_N3 comprise the YjeF_N domain protein family in humans with a role in spermiogenesis and oogenesis. Rudolph C, et al. Horm Metab Res, 2007 May. PMID 17533573
  2. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Ripke S, et al. Nat Genet, 2013 Oct. PMID 23974872, Free PMC Article
  3. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article
  4. The DNA sequence and biology of human chromosome 19. Grimwood J, et al. Nature, 2004 Apr 1. PMID 15057824
  5. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article

See all (11) citations in PubMed

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

EBI GWAS Catalog

Description
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog

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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Markers

Homology

Clone Names

  • FLJ44968, MGC138490

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables NAD(P)HX epimerase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in hematopoietic stem cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in membrane raft distribution ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of Notch signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cholesterol efflux ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sprouting angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
yjeF N-terminal domain-containing protein 3
Names
apoA-I-binding protein 2
apolipoprotein A1 binding protein
hYjeF_N3
hYjeF_N3-19p13.11
yjeF_N3

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_001190328.2 → NP_001177257.1  yjeF N-terminal domain-containing protein 3 isoform 2

    See identical proteins and their annotated locations for NP_001177257.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment, in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
    Source sequence(s)
    BI520231, BX097402, DQ778079
    Consensus CDS
    CCDS54236.1
    UniProtKB/Swiss-Prot
    A6XGL0
    Related
    ENSP00000398520.2, ENST00000436027.9
    Conserved Domains (1) summary
    PLN03049
    Location:13 → 246
    PLN03049; pyridoxine (pyridoxamine) 5'-phosphate oxidase; Provisional

  2. NM_198537.4 → NP_940939.2  yjeF N-terminal domain-containing protein 3 isoform 1

    See identical proteins and their annotated locations for NP_940939.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AK126916, BC020948, BI520231
    Consensus CDS
    CCDS42530.1
    UniProtKB/Swiss-Prot
    A6XGK9, A6XGL0, Q4G1C0
    Related
    ENSP00000426964.1, ENST00000514277.6
    Conserved Domains (1) summary
    cl00318
    Location:70 → 299
    YjeF_N; YjeF-related protein N-terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    19528911..19537581
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005259903.5 → XP_005259960.1  yjeF N-terminal domain-containing protein 3 isoform X1

    Conserved Domains (1) summary
    cl00318
    Location:143 → 372
    YjeF_N; YjeF-related protein N-terminus

  2. XM_011527996.3 → XP_011526298.1  yjeF N-terminal domain-containing protein 3 isoform X3

  3. XM_017026770.2 → XP_016882259.1  yjeF N-terminal domain-containing protein 3 isoform X2

  4. XM_011527997.2 → XP_011526299.1  yjeF N-terminal domain-containing protein 3 isoform X4

    See identical proteins and their annotated locations for XP_011526299.1

    Conserved Domains (1) summary
    cl00318
    Location:10 → 194
    YjeF_N; YjeF-related protein N-terminus

  5. XM_011527998.4 → XP_011526300.1  yjeF N-terminal domain-containing protein 3 isoform X4

    See identical proteins and their annotated locations for XP_011526300.1

    Conserved Domains (1) summary
    cl00318
    Location:10 → 194
    YjeF_N; YjeF-related protein N-terminus

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19666386..19675069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054320916.1 → XP_054176891.1  yjeF N-terminal domain-containing protein 3 isoform X1

  2. XM_054320918.1 → XP_054176893.1  yjeF N-terminal domain-containing protein 3 isoform X3

  3. XM_054320917.1 → XP_054176892.1  yjeF N-terminal domain-containing protein 3 isoform X2

  4. XM_054320919.1 → XP_054176894.1  yjeF N-terminal domain-containing protein 3 isoform X4

  5. XM_054320920.1 → XP_054176895.1  yjeF N-terminal domain-containing protein 3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A6XGL0.1 GenPept UniProtKB/Swiss-Prot:A6XGL0

Gene LinkOut

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