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Q96IV6

- FXDC2_HUMAN

UniProt

Q96IV6 - FXDC2_HUMAN

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Protein

Fatty acid hydroxylase domain-containing protein 2

Gene

FAXDC2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

  1. iron ion binding Source: InterPro
  2. oxidoreductase activity Source: InterPro

GO - Biological processi

  1. fatty acid biosynthetic process Source: InterPro
Complete GO annotation...

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
ProteomesiUP000005640: Chromosome 5

Organism-specific databases

HGNCiHGNC:1334. FAXDC2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei29 – 4921HelicalSequence AnalysisAdd
BLAST
Transmembranei77 – 9721HelicalSequence AnalysisAdd
BLAST
Transmembranei134 – 15421HelicalSequence AnalysisAdd
BLAST
Transmembranei168 – 18821HelicalSequence AnalysisAdd
BLAST
Transmembranei215 – 23521HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25915.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 333333Fatty acid hydroxylase domain-containing protein 2PRO_0000249848Add
BLAST

Proteomic databases

PaxDbiQ96IV6.
PRIDEiQ96IV6.

PTM databases

PhosphoSiteiQ96IV6.

Expressioni

Gene expression databases

BgeeiQ96IV6.
CleanExiHS_C5orf4.
ExpressionAtlasiQ96IV6. baseline and differential.
GenevestigatoriQ96IV6.

Organism-specific databases

HPAiHPA014775.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000320604.

Structurei

3D structure databases

ProteinModelPortaliQ96IV6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the sterol desaturase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG3000.
GeneTreeiENSGT00530000063017.
HOGENOMiHOG000038020.
HOVERGENiHBG067085.
InParanoidiQ96IV6.
KOiK07750.
OMAiKAYERHV.
OrthoDBiEOG73Z2TF.
PhylomeDBiQ96IV6.
TreeFamiTF313020.

Family and domain databases

InterProiIPR006694. Fatty_acid_hydroxylase.
[Graphical view]
PfamiPF04116. FA_hydroxylase. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti133 – 1331R → H.
Corresponds to variant rs17641488 [ dbSNP | Ensembl ].
VAR_048900

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 2323Missing in isoform 2. 1 PublicationVSP_056995Add
BLAST

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.
RefSeqiNP_115761.2. NM_032385.3.
XP_006714816.1. XM_006714753.1.
UniGeneiHs.519694.
Hs.713175.

Genome annotation databases

EnsembliENST00000326080; ENSP00000320604; ENSG00000170271. [Q96IV6-1]
ENST00000517938; ENSP00000430286; ENSG00000170271. [Q96IV6-2]
GeneIDi10826.
KEGGihsa:10826.
UCSCiuc003lvs.4. human. [Q96IV6-1]

Polymorphism databases

DMDMi74751947.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

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 .
CCDSi CCDS43390.1.
RefSeqi NP_115761.2. NM_032385.3.
XP_006714816.1. XM_006714753.1.
UniGenei Hs.519694.
Hs.713175.

3D structure databases

ProteinModelPortali Q96IV6.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000320604.

PTM databases

PhosphoSitei Q96IV6.

Polymorphism databases

DMDMi 74751947.

Proteomic databases

PaxDbi Q96IV6.
PRIDEi Q96IV6.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000326080 ; ENSP00000320604 ; ENSG00000170271 . [Q96IV6-1 ]
ENST00000517938 ; ENSP00000430286 ; ENSG00000170271 . [Q96IV6-2 ]
GeneIDi 10826.
KEGGi hsa:10826.
UCSCi uc003lvs.4. human. [Q96IV6-1 ]

Organism-specific databases

CTDi 10826.
GeneCardsi GC05M154198.
H-InvDB HIX0005345.
HGNCi HGNC:1334. FAXDC2.
HPAi HPA014775.
neXtProti NX_Q96IV6.
PharmGKBi PA25915.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG3000.
GeneTreei ENSGT00530000063017.
HOGENOMi HOG000038020.
HOVERGENi HBG067085.
InParanoidi Q96IV6.
KOi K07750.
OMAi KAYERHV.
OrthoDBi EOG73Z2TF.
PhylomeDBi Q96IV6.
TreeFami TF313020.

Miscellaneous databases

GenomeRNAii 10826.
NextBioi 41120.

Gene expression databases

Bgeei Q96IV6.
CleanExi HS_C5orf4.
ExpressionAtlasi Q96IV6. baseline and differential.
Genevestigatori Q96IV6.

Family and domain databases

InterProi IPR006694. Fatty_acid_hydroxylase.
[Graphical view ]
Pfami PF04116. FA_hydroxylase. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-191 (ISOFORM 1).
    Tissue: Hippocampus and Placenta.
  2. "The DNA sequence and comparative analysis of human chromosome 5."
    Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
    , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
    Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Ovary and Skin.

Entry informationi

Entry nameiFXDC2_HUMAN
AccessioniPrimary (citable) accession number: Q96IV6
Secondary accession number(s): B4DIE1, Q9BSX6, Q9H8C7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: December 1, 2001
Last modified: November 26, 2014
This is version 95 of the entry and version 1 of the sequence. [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

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3