IMMTP1 Gene (Pseudogene)

Inner Membrane Mitochondrial Protein Pseudogene 1

GC21M044675
GIFtS:
8
See more...

Aliases for IMMTP1 Gene

Aliases for IMMTP1 Gene

  • Inner Membrane Mitochondrial Protein Pseudogene 1 2 3 5
  • Mitofilin 2 3
  • Inner Membrane Protein, Mitochondrial (Mitofilin) Pseudogene 1 3
  • Inner Membrane Protein, Mitochondrial (Mitofilin) Pseudogene 2
  • Motorprotein Pseudogene 3
  • IMMTP1 5
  • IMMTP 3

External Ids for IMMTP1 Gene

Previous HGNC Symbols for IMMTP1 Gene

  • IMMTP

Previous GeneCards Identifiers for IMMTP1 Gene

  • GC21M046096
  • GC21M031469
  • GC21M046183
  • GC21M046388
  • GC21M046547
  • GC21M046734

Summaries for IMMTP1 Gene

GeneCards Summary for IMMTP1 Gene

IMMTP1 (Inner Membrane Mitochondrial Protein Pseudogene 1) is a Pseudogene. Diseases associated with IMMTP1 include Fanconi Anemia, Complementation Group A.

Additional gene information for IMMTP1 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IMMTP1 Gene

Genomics for IMMTP1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for IMMTP1 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
GH21J044677 Enhancer 0.2 FANTOM5 600.7 +0.6 596 0.2 IMMTP1 TSPEAR-AS1 KRTAP10-12 KRTAP10-7 KRTAP12-1 KRTAP12-2 TSPEAR
GH21J044789 Enhancer 1 Ensembl ENCODE 10.3 -113.6 -113636 8.4 CTCF FOXA1 ZNF143 RXRB REST NR2C1 RAD21 BRD9 TRIM22 HDAC1 UBE2G2 PTTG1IP SUMO3 TSPEAR-AS2 ENSG00000184441 TSPEAR-AS1 KRTAP10-2 KRTAP10-1 POFUT2 KRTAP12-1
GH21J044656 Promoter/Enhancer 0.9 FANTOM5 Ensembl ENCODE 11.6 +20.0 20006 2.9 KLF17 KLF1 KRTAP12-3 KRTAP10-1 KRTAP12-1 IMMTP1 KRTAP10-2 KRTAP10-12 KRTAP10-10 KRTAP12-4 lnc-KRTAP12-4-1 KRTAP12-2
GH21J044626 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 11.4 +50.2 50164 5.6 ZIC2 ZKSCAN1 KRTAP10-9 KRTAP12-3 KRTAP12-4 KRTAP10-4 KRTAP12-2 TSPEAR IMMTP1 KRTAP12-1 KRTAP10-2 KRTAP10-1
GH21J044725 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 11.2 -45.4 -45378 1.7 TCF7L2 POLR2A BHLHE40 MYC MAX KRTAP12-1 IMMTP1 KRTAP10-4 KRTAP10-2 KRTAP10-1 TSPEAR-AS2 SUMO3 TSPEAR-AS1 TSPEAR piR-49818
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IMMTP1 on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for IMMTP1 Gene

Genomic Locations for IMMTP1 Gene
chr21:44,675,528-44,678,165
(GRCh38/hg38)
Size:
2,638 bases
Orientation:
Minus strand
chr21:46,095,445-46,098,082
(GRCh37/hg19)
Size:
2,638 bases
Orientation:
Minus strand

Genomic View for IMMTP1 Gene

Genes around IMMTP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IMMTP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IMMTP1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for IMMTP1 Gene

Proteins for IMMTP1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

Post-translational modifications for IMMTP1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for IMMTP1 Gene

Domains & Families for IMMTP1 Gene

No data available for Gene Families , Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IMMTP1 Gene

Function for IMMTP1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IMMTP1 Gene

Localization for IMMTP1 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 IMMTP1 Gene

Pathways & Interactions for IMMTP1 Gene

PathCards logo

SuperPathways for IMMTP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IMMTP1 Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for IMMTP1 Gene

Drugs & Compounds for IMMTP1 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for IMMTP1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for IMMTP1 Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for IMMTP1 Gene

No ASD Table

Relevant External Links for IMMTP1 Gene

GeneLoc Exon Structure for
IMMTP1

Expression for IMMTP1 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IMMTP1 Gene

mRNA expression in normal human tissues for IMMTP1 Gene
mRNA expression by GTEx for IMMTP1 Gene
genes like me logo Genes that share expression patterns with IMMTP1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IMMTP1 Gene

Orthologs for IMMTP1 Gene

Evolution for IMMTP1 Gene

ENSEMBL:
Gene Tree for IMMTP1 (if available)
TreeFam:
Gene Tree for IMMTP1 (if available)

No data available for Orthologs for IMMTP1 Gene

Paralogs for IMMTP1 Gene

No data available for Paralogs for IMMTP1 Gene

Variants for IMMTP1 Gene

Additional Variant Information for IMMTP1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IMMTP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for IMMTP1 Gene

Disorders for IMMTP1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for IMMTP1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group a
  • fanca
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with IMMTP1: view

No data available for UniProtKB/Swiss-Prot , Genatlas and External Links for IMMTP1 Gene

Publications for IMMTP1 Gene

  1. Changes in vimentin, lamin A/C and mitofilin induce aberrant cell organization in fibroblasts from Fanconi anemia complementation group A (FA-A) patients. (PMID: 23831462) Capanni C … Cappelli E (Biochimie 2013) 3
  2. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3

ExternalLinks

View latest publications for IMMTP1 gene in Mastermind

Products for IMMTP1 Gene

Sources for IMMTP1 Gene