This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008] See more...

Aliases for POM121L1P Gene

Aliases for POM121L1P Gene

  • POM121 Transmembrane Nucleoporin Like 1, Pseudogene 2 3 5
  • POM121 Membrane Glycoprotein-Like 1, Pseudogene 2 3
  • POM121-Like 2 2 3
  • POM121L1 3 4
  • POM121 Transmembrane Nucleoporin-Like 1, Pseudogene 2
  • POM121 Membrane Glycoprotein-Like 1 (Rat) 2
  • Putative POM121-Like Protein 1 4

External Ids for POM121L1P Gene

Previous HGNC Symbols for POM121L1P Gene

  • POM121L1

Previous GeneCards Identifiers for POM121L1P Gene

  • GC22M021304
  • GC22M022977
  • GC22M022984
  • GC22M022632

Summaries for POM121L1P Gene

Entrez Gene Summary for POM121L1P Gene

  • This locus appears to be a pseudogene related to DKFZp434K191, which is of unknown function. This pseudogene lies in the immunoglobulin lambda gene cluster on chromosome 22q11.21. [provided by RefSeq, Jul 2008]

GeneCards Summary for POM121L1P Gene

POM121L1P (POM121 Transmembrane Nucleoporin Like 1, Pseudogene) is a Pseudogene.

Additional gene information for POM121L1P Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POM121L1P Gene

Genomics for POM121L1P Gene

GeneHancer (GH) Regulatory Elements for POM121L1P Gene

Promoters and enhancers for POM121L1P Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J022646 Promoter 0.5 EPDnew 750.6 -1.6 -1572 0.1 ZNF24 MCM3 GGTLC2 POM121L1P piR-33299-006 piR-37823 piR-41411-004 piR-49363 piR-47694-005 TOP3B piR-48049-053 lnc-ZNF280B-6
GH22J022648 Enhancer 0.7 Ensembl 0.6 -3.7 -3714 1.1 CTCF L3MBTL2 DACH1 CDC5L ARID2 REST ZNF143 ZNF24 MTA3 CTBP1 piR-48049-053 GGTLC2 POM121L1P lnc-ZNF280B-6 IGL lnc-IGLL5-1
GH22J022631 Enhancer 0.7 Ensembl 0.4 +13.1 13140 1.6 L3MBTL2 ZNF148 ZFX CBFA2T2 REST PHF21A ATF1 PKNOX1 HDAC1 NR2C1 BCRP4 lnc-GGTLC2-11 piR-50721-001 piR-55157-003 ENSG00000286941 lnc-PRAME-2 POM121L1P lnc-ZNF280B-6 IGL lnc-IGLL5-1
GH22J022636 Enhancer 0.3 Ensembl 0.4 +7.5 7503 2 CTCF EGR1 NONHSAG033430.2 piR-53206-005 BCRP4 POM121L1P lnc-ZNF280B-6 IGL lnc-IGLL5-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POM121L1P on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POM121L1P gene promoter:
  • E47
  • GATA-2
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Olf-1
  • Pax-4a
  • RFX1
  • Tal-1beta
  • TGIF

Genomic Locations for POM121L1P Gene

Genomic Locations for POM121L1P Gene
chr22:22,631,557-22,644,541
(GRCh38/hg38)
Size:
12,985 bases
Orientation:
Minus strand
chr22:22,974,028-22,987,012
(GRCh37/hg19)
Size:
12,985 bases
Orientation:
Minus strand

Genomic View for POM121L1P Gene

Genes around POM121L1P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POM121L1P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POM121L1P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POM121L1P Gene

Proteins for POM121L1P Gene

  • Protein details for POM121L1P Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q3SYA9-P12L1_HUMAN
    Recommended name:
    Putative POM121-like protein 1
    Protein Accession:
    Q3SYA9

    Protein attributes for POM121L1P Gene

    Size:
    428 amino acids
    Molecular mass:
    45448 Da
    Quaternary structure:
    No Data Available

neXtProt entry for POM121L1P Gene

Post-translational modifications for POM121L1P Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for POM121L1P Gene

Domains & Families for POM121L1P Gene

Protein Domains for POM121L1P Gene

ProtoNet:

Suggested Antigen Peptide Sequences for POM121L1P Gene

GenScript: Design optimal peptide antigens:
  • Putative POM121-like protein 1 (P12L1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q3SYA9

UniProtKB/Swiss-Prot:

P12L1_HUMAN :
  • Belongs to the POM121 family.
Family:
  • Belongs to the POM121 family.
genes like me logo Genes that share domains with POM121L1P: view

No data available for Gene Families for POM121L1P Gene

Function for POM121L1P Gene

genes like me logo Genes that share phenotypes with POM121L1P: view

Animal Model Products

CRISPR Products

miRNA for POM121L1P Gene

miRTarBase miRNAs that target POM121L1P

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for POM121L1P Gene

Localization for POM121L1P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for POM121L1P Gene

Pathways & Interactions for POM121L1P Gene

PathCards logo

SuperPathways for POM121L1P Gene

No Data Available

Interacting Proteins for POM121L1P Gene

Selected Interacting proteins: Q3SYA9-P12L1_HUMAN for POM121L1P Gene via UniProtKB IID

Gene Ontology (GO) - Biological Process for POM121L1P Gene

None

No data available for Pathways by source and SIGNOR curated interactions for POM121L1P Gene

Drugs & Compounds for POM121L1P Gene

No Compound Related Data Available

Transcripts for POM121L1P Gene

mRNA/cDNA for POM121L1P Gene

(1) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for POM121L1P Gene

No ASD Table

Relevant External Links for POM121L1P Gene

GeneLoc Exon Structure for
POM121L1P
ECgene alternative splicing isoforms for
POM121L1P

Expression for POM121L1P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POM121L1P Gene

mRNA differential expression in normal tissues according to GTEx for POM121L1P Gene

This gene is overexpressed in Testis (x49.9).

Protein differential expression in normal tissues from HIPED for POM121L1P Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POM121L1P Gene



Protein tissue co-expression partners for POM121L1P Gene

NURSA nuclear receptor signaling pathways regulating expression of POM121L1P Gene:

POM121L1P

SOURCE GeneReport for Unigene cluster for POM121L1P Gene:

Hs.367764
genes like me logo Genes that share expression patterns with POM121L1P: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for POM121L1P Gene

Orthologs for POM121L1P Gene

Evolution for POM121L1P Gene

ENSEMBL:
Gene Tree for POM121L1P (if available)
TreeFam:
Gene Tree for POM121L1P (if available)

No data available for Orthologs for POM121L1P Gene

Paralogs for POM121L1P Gene

(4) SIMAP similar genes for POM121L1P Gene using alignment to 1 proteins:

  • P12L1_HUMAN
genes like me logo Genes that share paralogs with POM121L1P: view

No data available for Paralogs for POM121L1P Gene

Variants for POM121L1P Gene

Sequence variations from dbSNP and Humsavar for POM121L1P Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000812489 -- 22,633,138(-) G/A intron_variant
rs1000866285 -- 22,633,428(-) G/A/T intron_variant
rs1001149276 -- 22,642,140(-) G/A intron_variant
rs1001485543 -- 22,638,034(-) C/T non_coding_transcript_variant
rs1001495977 -- 22,641,979(-) A/C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for POM121L1P Gene

Variant ID Type Subtype PubMed ID
dgv38n64 CNV loss 17921354
dgv39n64 CNV loss 17921354
dgv4505n100 CNV loss 25217958
dgv4506n100 CNV loss 25217958
dgv4507n100 CNV loss 25217958
dgv4511n100 CNV gain 25217958
dgv4512n100 CNV loss 25217958
dgv4513n100 CNV gain 25217958
dgv548n27 CNV loss 19166990
dgv550n27 CNV loss 19166990
dgv551n27 CNV loss 19166990
dgv555n27 CNV loss 19166990
dgv557n27 CNV loss 19166990
dgv560n27 CNV loss 19166990
dgv731n67 CNV loss 20364138
dgv8004n54 CNV loss 21841781
dgv8005n54 CNV loss 21841781
dgv8010n54 CNV loss 21841781
dgv8015n54 CNV loss 21841781
dgv826e214 CNV loss 21293372
esv2662193 CNV deletion 23128226
esv3568289 CNV loss 25503493
esv3647375 CNV loss 21293372
nsv1057397 CNV loss 25217958
nsv1063128 CNV gain+loss 25217958
nsv1066891 CNV gain 25217958
nsv1066925 CNV gain+loss 25217958
nsv1145933 CNV duplication 26484159
nsv433337 CNV loss 18776910
nsv438338 CNV loss 16468122
nsv459553 CNV loss 19166990
nsv469742 CNV gain+loss 16826518
nsv514963 CNV gain+loss 21397061
nsv588472 CNV loss 21841781
nsv7350 OTHER inversion 18451855
nsv817937 CNV loss 17921354
nsv819428 CNV gain 19587683
nsv821694 CNV loss 15273396
nsv828979 CNV gain+loss 20364138
nsv834151 CNV loss 17160897
nsv953048 CNV deletion 24416366
nsv966084 CNV duplication 23825009

Additional Variant Information for POM121L1P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POM121L1P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for POM121L1P Gene

Disorders for POM121L1P Gene

Additional Disease Information for POM121L1P

No disorders were found for POM121L1P Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POM121L1P Gene

Publications for POM121L1P Gene

  1. One-megabase sequence analysis of the human immunoglobulin lambda gene locus. (PMID: 9074928) Kawasaki K … Shimizu N (Genome research 1997) 2 3 56
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 56
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 56
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 4 56
  5. Radial aplasia and chromosome 22q11 deletion. (PMID: 9391893) Digilio MC … Dallapiccola B (Journal of medical genetics 1997) 3 56

Products for POM121L1P Gene

Sources for POM121L1P Gene