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Protein

Ubiquitin-associated domain-containing protein 2

Gene

UBAC2

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

Functioni

Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets.1 Publication

GO - Molecular functioni

GO - Biological processi

  • negative regulation of retrograde protein transport, ER to cytosol Source: ParkinsonsUK-UCL
  • protein localization to endoplasmic reticulum Source: MGI

Names & Taxonomyi

Protein namesi
Recommended name:
Ubiquitin-associated domain-containing protein 2
Short name:
UBA domain-containing protein 2
Alternative name(s):
Phosphoglycerate dehydrogenase-like protein 1
Gene namesi
Name:UBAC2
Synonyms:PHGDHL1
ORF Names:PSEC0110
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000134882.15.
HGNCiHGNC:20486. UBAC2.

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
Topological domaini36 – 91ExtracellularSequence analysisAdd BLAST56
Transmembranei92 – 112HelicalSequence analysisAdd BLAST21
Topological domaini113 – 125CytoplasmicSequence analysisAdd BLAST13
Transmembranei126 – 146HelicalSequence analysisAdd BLAST21
Topological domaini147 – 163ExtracellularSequence analysisAdd BLAST17
Transmembranei164 – 184HelicalSequence analysisAdd BLAST21
Topological domaini185 – 344CytoplasmicSequence analysisAdd BLAST160

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi337867.
MalaCardsiUBAC2.
OpenTargetsiENSG00000134882.
Orphaneti117. Behcet disease.
PharmGKBiPA162407839.

Polymorphism and mutation databases

BioMutaiUBAC2.
DMDMi74751173.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 35Sequence analysisAdd BLAST35
ChainiPRO_000028075436 – 344Ubiquitin-associated domain-containing protein 2Add BLAST309

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi161N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

EPDiQ8NBM4.
MaxQBiQ8NBM4.
PaxDbiQ8NBM4.
PeptideAtlasiQ8NBM4.
PRIDEiQ8NBM4.

PTM databases

iPTMnetiQ8NBM4.
PhosphoSitePlusiQ8NBM4.
SwissPalmiQ8NBM4.

Expressioni

Gene expression databases

BgeeiENSG00000134882.
CleanExiHS_UBAC2.
ExpressionAtlasiQ8NBM4. baseline and differential.
GenevisibleiQ8NBM4. HS.

Organism-specific databases

HPAiHPA013448.

Interactioni

Subunit structurei

Interacts with FAF2.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CALCOCO2Q131373EBI-724045,EBI-739580

GO - Molecular functioni

Protein-protein interaction databases

BioGridi130617. 64 interactors.
IntActiQ8NBM4. 20 interactors.
MINTiMINT-1428002.
STRINGi9606.ENSP00000383911.

Structurei

3D structure databases

ProteinModelPortaliQ8NBM4.
SMRiQ8NBM4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini304 – 344UBAPROSITE-ProRule annotationAdd BLAST41

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4463. Eukaryota.
ENOG4111CBK. LUCA.
GeneTreeiENSGT00390000000865.
HOVERGENiHBG106192.
InParanoidiQ8NBM4.
OMAiQRRNVNY.
OrthoDBiEOG091G0SDX.
PhylomeDBiQ8NBM4.
TreeFamiTF333335.

Family and domain databases

Gene3Di1.20.1540.10. 1 hit.
InterProiView protein in InterPro
IPR035952. Rhomboid-like_sf.
IPR015940. UBA.
IPR009060. UBA-like_sf.
PfamiView protein in Pfam
PF00627. UBA. 1 hit.
SMARTiView protein in SMART
SM00165. UBA. 1 hit.
SUPFAMiSSF144091. SSF144091. 1 hit.
SSF46934. SSF46934. 1 hit.
PROSITEiView protein in PROSITE
PS50030. UBA. 1 hit.

Sequences (5)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8NBM4-1) [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
MFTSTGSSGL YKAPLSKSLL LVPSALSLLL ALLLPHCQKL FVYDLHAVKN
60 70 80 90 100
DFQIWRLICG RIICLDLKDT FCSSLLIYNF RIFERRYGSR KFASFLLGSW
110 120 130 140 150
VLSALFDFLL IEAMQYFFGI TAASNLPSGF LAPVFALFVP FYCSIPRVQV
160 170 180 190 200
AQILGPLSIT NKTLIYILGL QLFTSGSYIW IVAISGLMSG LCYDSKMFQV
210 220 230 240 250
HQVLCIPSWM AKFFSWTLEP IFSSSEPTSE ARIGMGATLD IQRQQRMELL
260 270 280 290 300
DRQLMFSQFA QGRRQRQQQG GMINWNRLFP PLRQRQNVNY QGGRQSEPAA
310 320 330 340
PPLEVSEEQV ARLMEMGFSR GDALEALRAS NNDLNVATNF LLQH
Length:344
Mass (Da):38,964
Last modified:October 1, 2002 - v1
Checksum:iA8C5D4D68B64CEB3
GO
Isoform 2 (identifier: Q8NBM4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-35: Missing.
     36-130: HCQKLFVYDL...TAASNLPSGF → MCFFFSLQEE...TFTQSRTTSS

Show »
Length:309
Mass (Da):34,876
Checksum:i8DBCCCADAB551956
GO
Isoform 3 (identifier: Q8NBM4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-113: Missing.

Show »
Length:231
Mass (Da):26,097
Checksum:i0BFAA7849E602840
GO
Isoform 4 (identifier: Q8NBM4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-187: Missing.

Show »
Length:157
Mass (Da):18,055
Checksum:iF87E4C44784F0876
GO
Isoform 5 (identifier: Q8NBM4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     54-141: IWRLICGRII...APVFALFVPF → PGTCVCSVCT...LDGKILFLDT
     142-344: Missing.

Show »
Length:141
Mass (Da):15,426
Checksum:i93054CCD541AEDFE
GO

Sequence cautioni

The sequence AAH72674 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAI21139 differs from that shown. Reason: Erroneous initiation.Curated

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0239091 – 187Missing in isoform 4. 2 PublicationsAdd BLAST187
Alternative sequenceiVSP_0239101 – 113Missing in isoform 3. 1 PublicationAdd BLAST113
Alternative sequenceiVSP_0239111 – 35Missing in isoform 2. 1 PublicationAdd BLAST35
Alternative sequenceiVSP_02391236 – 130HCQKL…LPSGF → MCFFFSLQEEFLDKHTLMRV LSSGGKLGSRGEGAQLCCWM LLFSWRVSGGQQTRRLCRRA FCWSPVPSPSCSPSSCLTAR SSLCMTFTQSRTTSS in isoform 2. 1 PublicationAdd BLAST95
Alternative sequenceiVSP_02391354 – 141IWRLI…LFVPF → PGTCVCSVCTILLLHTKSPS GTNSGSVVHHKQDIDLYIGT AAFHLWFLHLDCSHKWTYVR SVLRQQNVPGASGALHPQLD GKILFLDT in isoform 5. CuratedAdd BLAST88
Alternative sequenceiVSP_023914142 – 344Missing in isoform 5. CuratedAdd BLAST203

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK054563 mRNA. Translation: BAB70757.1.
AK055110 mRNA. Translation: BAG51469.1.
AK075419 mRNA. Translation: BAC11609.1.
AK075516 mRNA. Translation: BAC11665.1.
AL136961, AL159981, AL160155 Genomic DNA. Translation: CAH70935.1. Different termination.
AL136961, AL159981, AL160155 Genomic DNA. Translation: CAH70936.1.
AL136961, AL159981, AL160155 Genomic DNA. Translation: CAH70937.1.
AL159981, AL136961, AL160155 Genomic DNA. Translation: CAI16940.1.
AL159981, AL136961, AL160155 Genomic DNA. Translation: CAI16941.1.
AL159981, AL136961, AL160155 Genomic DNA. Translation: CAI16943.1.
AL160155, AL136961, AL159981 Genomic DNA. Translation: CAI14300.1.
AL160155, AL136961, AL159981 Genomic DNA. Translation: CAI14301.1.
AL160155, AL136961, AL159981 Genomic DNA. Translation: CAI14303.1.
BC063559 mRNA. Translation: AAH63559.1.
BC072674 mRNA. Translation: AAH72674.1. Different initiation.
BC121138 mRNA. Translation: AAI21139.1. Different initiation.
BC121139 mRNA. Translation: AAI21140.1.
CCDSiCCDS45064.1. [Q8NBM4-1]
CCDS9490.1. [Q8NBM4-2]
RefSeqiNP_001137544.1. NM_001144072.1. [Q8NBM4-1]
NP_808882.1. NM_177967.3. [Q8NBM4-2]
XP_006720011.1. XM_006719948.3. [Q8NBM4-3]
XP_011519386.1. XM_011521084.2. [Q8NBM4-3]
UniGeneiHs.508545.

Genome annotation databases

EnsembliENST00000376440; ENSP00000365623; ENSG00000134882. [Q8NBM4-2]
ENST00000403766; ENSP00000383911; ENSG00000134882. [Q8NBM4-1]
GeneIDi337867.
KEGGihsa:337867.
UCSCiuc001voa.5. human. [Q8NBM4-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiUBAC2_HUMAN
AccessioniPrimary (citable) accession number: Q8NBM4
Secondary accession number(s): B3KNV7
, Q0VAB5, Q5W0W6, Q5W0W9, Q6GQR2, Q6P4B0, Q8N2E8, Q96NW2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: October 1, 2002
Last modified: November 22, 2017
This is version 128 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

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM