Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Fatty acid hydroxylase domain-containing protein 2

Gene

FAXDC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Names & Taxonomyi

Protein namesi
Recommended name:
Fatty acid hydroxylase domain-containing protein 2
Gene namesi
Name:FAXDC2
Synonyms:C5orf4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000170271.10
HGNCiHGNC:1334 FAXDC2
neXtProtiNX_Q96IV6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei29 – 49HelicalSequence analysisAdd BLAST21
Transmembranei77 – 97HelicalSequence analysisAdd BLAST21
Transmembranei134 – 154HelicalSequence analysisAdd BLAST21
Transmembranei168 – 188HelicalSequence analysisAdd BLAST21
Transmembranei215 – 235HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi10826
OpenTargetsiENSG00000170271
PharmGKBiPA25915

Polymorphism and mutation databases

BioMutaiFAXDC2
DMDMi74751947

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002498481 – 333Fatty acid hydroxylase domain-containing protein 2Add BLAST333

Proteomic databases

PaxDbiQ96IV6
PRIDEiQ96IV6

PTM databases

iPTMnetiQ96IV6
PhosphoSitePlusiQ96IV6

Expressioni

Gene expression databases

BgeeiENSG00000170271
CleanExiHS_C5orf4
ExpressionAtlasiQ96IV6 baseline and differential
GenevisibleiQ96IV6 HS

Interactioni

Protein-protein interaction databases

BioGridi116039, 1 interactor
IntActiQ96IV6, 4 interactors
STRINGi9606.ENSP00000320604

Structurei

3D structure databases

ProteinModelPortaliQ96IV6
SMRiQ96IV6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sterol desaturase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG0873 Eukaryota
COG3000 LUCA
GeneTreeiENSGT00530000063017
HOGENOMiHOG000038020
HOVERGENiHBG067085
InParanoidiQ96IV6
KOiK22282
OMAiFTMIVYW
OrthoDBiEOG091G0F62
PhylomeDBiQ96IV6
TreeFamiTF313020

Family and domain databases

InterProiView protein in InterPro
IPR006694 Fatty_acid_hydroxylase
PfamiView protein in Pfam
PF04116 FA_hydroxylase, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96IV6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKGEAGHMLH NEKSKQEGHI WGSMRRTAFI LGSGLLSFVA FWNSVTWHLQ
60 70 80 90 100
RFWGASGYFW QAQWERLLTT FEGKEWILFF IGAIQVPCLF FWSFNGLLLV
110 120 130 140 150
VDTTGKPNFI SRYRIQVGKN EPVDPVKLRQ SIRTVLFNQC MISFPMVVFL
160 170 180 190 200
YPFLKWWRDP CRRELPTFHW FLLELAIFTL IEEVLFYYSH RLLHHPTFYK
210 220 230 240 250
KIHKKHHEWT APIGVISLYA HPIEHAVSNM LPVIVGPLVM GSHLSSITMW
260 270 280 290 300
FSLALIITTI SHCGYHLPFL PSPEFHDYHH LKFNQCYGVL GVLDHLHGTD
310 320 330
TMFKQTKAYE RHVLLLGFTP LSESIPDSPK RME
Length:333
Mass (Da):39,002
Last modified:December 1, 2001 - v1
Checksum:i48914C18C2D92CE3
GO
Isoform 2 (identifier: Q96IV6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: Missing.

Note: No experimental confirmation available.
Show »
Length:310
Mass (Da):36,428
Checksum:i386555E7A23BAF08
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_048900133R → H. Corresponds to variant dbSNP:rs17641488Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0569951 – 23Missing in isoform 2. 1 PublicationAdd BLAST23

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK023820 mRNA No translation available.
AK295546 mRNA Translation: BAG58453.1
AC112169 Genomic DNA No translation available.
BC004506 mRNA Translation: AAH04506.2
BC007216 mRNA Translation: AAH07216.1
CCDSiCCDS43390.1 [Q96IV6-1]
RefSeqiNP_115761.2, NM_032385.4 [Q96IV6-1]
XP_006714816.1, XM_006714753.2 [Q96IV6-1]
XP_016864454.1, XM_017008965.1 [Q96IV6-1]
UniGeneiHs.519694
Hs.713175

Genome annotation databases

EnsembliENST00000326080; ENSP00000320604; ENSG00000170271 [Q96IV6-1]
ENST00000517938; ENSP00000430286; ENSG00000170271 [Q96IV6-2]
GeneIDi10826
KEGGihsa:10826
UCSCiuc003lvs.5 human [Q96IV6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFXDC2_HUMAN
AccessioniPrimary (citable) accession number: Q96IV6
Secondary accession number(s): B4DIE1, Q9BSX6, Q9H8C7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: December 1, 2001
Last modified: April 25, 2018
This is version 119 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health