Cell atlas - FA2H - The Human Protein Atlas

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FA2H

TISSUE

CELL

CANCER

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Nuclear membrane

Human cell
	Nuclear membrane

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GENERAL INFORMATION
Gene name	FA2H
Gene description	Fatty acid 2-hydroxylase
Protein class	Disease related genes Predicted intracellular proteins Predicted membrane proteins
Predicted localization	Intracellular,Membrane
Number of transcripts	3
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HUMAN PROTEIN ATLAS INFORMATION
Summary	Localized to the nuclear membrane.
RNA cell category	Cell line enhanced (A549, SK-BR-3, CAPAN-2, RPTEC TERT1, CACO-2)
Protein evidence	Evidence at protein level
Main location	Localized to the Nuclear membrane (approved)

DATA RELIABILITY
Reliability score	Approved based on 1 antibody. HPA077840
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Cell line enhanced (A549, SK-BR-3, CAPAN-2, RPTEC TERT1, CACO-2) Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the nuclear membrane.

Main location

Nuclear membrane (approved)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA077840	A549	Nuclear membrane

GENE INFORMATION
Gene name	FA2H (HGNC Symbol)
Synonyms	FAAH, FAXDC1, FLJ25287, SPG35
Description	Fatty acid 2-hydroxylase (HGNC Symbol)
Entrez gene summary	This gene encodes a protein that catalyzes the synthesis of 2-hydroxysphingolipids, a subset of sphingolipids that contain 2-hydroxy fatty acids. Sphingolipids play roles in many cellular processes and their structural diversity arises from modification of the hydrophobic ceramide moiety, such as by 2-hydroxylation of the N-acyl chain, and the existence of many different head groups. Mutations in this gene have been associated with leukodystrophy dysmyelinating with spastic paraparesis with or without dystonia.[provided by RefSeq, Mar 2010]
Chromosome	16
Cytoband	q23.1
Chromosome location (bp)	74712955 - 74774831
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000103089 (version 83.38)
Entrez gene	79152
UniProt	Q7L5A8 (UniProt - Evidence at protein level)
neXtProt	NX_Q7L5A8
Antibodypedia	FA2H antibodies

PROTEIN BROWSER

FA2H-001	FA2H-004	FA2H-005

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
FA2H-001 ENSP00000219368 ENST00000219368	Q7L5A8 [Direct mapping] Fatty acid 2-hydroxylase Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 4TM proteins predicted by MDM Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0001949 [sebaceous gland cell differentiation] GO:0005506 [iron ion binding] GO:0005783 [endoplasmic reticulum] GO:0005789 [endoplasmic reticulum membrane] GO:0006631 [fatty acid metabolic process] GO:0006633 [fatty acid biosynthetic process] GO:0006665 [sphingolipid metabolic process] GO:0016021 [integral component of membrane] GO:0016491 [oxidoreductase activity] GO:0020037 [heme binding] GO:0030148 [sphingolipid biosynthetic process] GO:0030258 [lipid modification] GO:0032286 [central nervous system myelin maintenance] GO:0032287 [peripheral nervous system myelin maintenance] GO:0042127 [regulation of cell proliferation] GO:0042634 [regulation of hair cycle] GO:0044281 [small molecule metabolic process] GO:0055114 [oxidation-reduction process] GO:0080132 [fatty acid alpha-hydroxylase activity] Show all	372 aa 42.8 kDa	No	4
FA2H-004 ENSP00000464576 ENST00000569949	J3QS89 [Direct mapping] Fatty acid 2-hydroxylase Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005783 [endoplasmic reticulum] GO:0006631 [fatty acid metabolic process] GO:0016021 [integral component of membrane] GO:0055114 [oxidation-reduction process] GO:0080132 [fatty acid alpha-hydroxylase activity] Show all	192 aa 22.6 kDa	No	2
FA2H-005 ENSP00000479548 ENST00000618933	A0A087WVM8 [Direct mapping] Fatty acid 2-hydroxylase Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005783 [endoplasmic reticulum] GO:0006631 [fatty acid metabolic process] GO:0055114 [oxidation-reduction process] GO:0080132 [fatty acid alpha-hydroxylase activity] Show all	18 aa 1.9 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.