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FITM1 fat storage inducing transmembrane protein 1 [ Homo sapiens (human) ]

Gene ID: 161247, updated on 11-Apr-2024

Summary

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Official Symbol
FITM1provided by HGNC
Official Full Name
fat storage inducing transmembrane protein 1provided by HGNC
Primary source
HGNC:HGNC:33714
See related
Ensembl:ENSG00000139914 MIM:612028; AllianceGenome:HGNC:33714
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
FIT1
Summary
Predicted to enable diacylglycerol binding activity and triglyceride binding activity. Predicted to be involved in lipid droplet formation; phospholipid biosynthetic process; and positive regulation of sequestering of triglyceride. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in heart (RPKM 28.4), prostate (RPKM 3.1) and 3 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
14q12
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (24130659..24132847)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (18328966..18331154)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (24599868..24602056)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene neural retina leucine zipper Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5622 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24563543-24564192 Neighboring gene phosphoenolpyruvate carboxykinase 2, mitochondrial Neighboring gene Sharpr-MPRA regulatory region 2696 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:24583239-24583954 Neighboring gene DDB1 and CUL4 associated factor 11 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5625 Neighboring gene proteasome activator subunit 1 Neighboring gene ER membrane protein complex subunit 9

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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Related articles in PubMed

  1. Evolutionarily conserved gene family important for fat storage. Kadereit B, et al. Proc Natl Acad Sci U S A, 2008 Jan 8. PMID 18160536, Free PMC Article
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

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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Markers

Potential readthrough

Included gene: DCAF11

Homology

Clone Names

  • MGC46490

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables diacylglycerol binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables molecular_function ND
No biological Data available
more info
  
enables triglyceride binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in lipid droplet formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in lipid droplet organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in lipid droplet organization ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in lipid storage IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in phospholipid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of sequestering of triglyceride ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
Component Evidence Code Pubs
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
fat storage-inducing transmembrane protein 1
Names
fat-inducing protein 1
fat-inducing transcript 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_203402.3 → NP_981947.1  fat storage-inducing transmembrane protein 1

    See identical proteins and their annotated locations for NP_981947.1

    Status: VALIDATED

    Source sequence(s)
    AL136295
    Consensus CDS
    CCDS9611.1
    UniProtKB/Swiss-Prot
    A5D6W6, Q8IUQ7
    Related
    ENSP00000267426.5, ENST00000267426.6
    Conserved Domains (1) summary
    pfam10261
    Location:80 → 264
    Scs3p; Inositol phospholipid synthesis and fat-storage-inducing TM

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    24130659..24132847
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654722.1 Reference GRCh38.p14 PATCHES

    Range
    431637..433825
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    18328966..18331154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A5D6W6.1 GenPept UniProtKB/Swiss-Prot:A5D6W6

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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