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

Summary

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 and membrane. Predicted to be active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Nov 2024]
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

Location:: 14q12

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (24130659..24132847)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (18328966..18331154)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (24599868..24602056)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables coenzyme A diphosphatase activity	IEA Inferred from Electronic Annotation more info
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)

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