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Protein

Hypoxia-inducible lipid droplet-associated protein

Gene

HILPDA

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

Functioni

Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation.2 Publications

GO - Molecular functioni

  • receptor binding Source: BHF-UCL

GO - Biological processi

  • autocrine signaling Source: BHF-UCL
  • positive regulation of cell proliferation Source: BHF-UCL
  • positive regulation of cytokine production Source: UniProtKB
  • positive regulation of lipid storage Source: UniProtKB
  • response to stress Source: UniProtKB

Keywordsi

Biological processStress response

Enzyme and pathway databases

ReactomeiR-HSA-73923. Lipid digestion, mobilization, and transport.

Names & Taxonomyi

Protein namesi
Recommended name:
Hypoxia-inducible lipid droplet-associated protein
Alternative name(s):
Hypoxia-inducible gene 2 protein
Gene namesi
Name:HILPDA
Synonyms:C7orf68, HIG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:28859. HILPDA.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei7 – 23HelicalSequence analysisAdd BLAST17

GO - Cellular componenti

  • cell surface Source: BHF-UCL
  • cytosol Source: Reactome
  • extracellular space Source: BHF-UCL
  • integral component of membrane Source: UniProtKB-KW
  • lipid particle Source: UniProtKB
  • nucleoplasm Source: HPA
  • secretory granule Source: BHF-UCL

Keywords - Cellular componenti

Lipid droplet, Membrane, Secreted

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi8 – 9YL → DD: Loss of targeting to lipid droplets and elimination of protein. 1 Publication2
Mutagenesisi41T → K: No effect on lipid droplet targeting or protein expression; when associated with K-44. 1 Publication1
Mutagenesisi44S → K: No effect on lipid droplet targeting or protein expression; when associated with K-41. 1 Publication1

Organism-specific databases

DisGeNETi29923.
OpenTargetsiENSG00000135245.
PharmGKBiPA164717457.

Polymorphism and mutation databases

BioMutaiHILPDA.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000839761 – 63Hypoxia-inducible lipid droplet-associated proteinAdd BLAST63

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei44PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9Y5L2.
PaxDbiQ9Y5L2.
PeptideAtlasiQ9Y5L2.
PRIDEiQ9Y5L2.

PTM databases

iPTMnetiQ9Y5L2.
PhosphoSitePlusiQ9Y5L2.

Expressioni

Tissue specificityi

Highly expressed in renal cell carcinoma cells but barely detectable in adjacent normal kidney tissue. Detected in some cervical and endometrial cancers. Expression also detected in fetal kidney with little or no expression observed in normal adult heart, liver, lung, pancreas, prostate or spinal cord (at protein level).3 Publications

Inductioni

By hypoxia but highly abundant under normoxic conditions (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000135245.
GenevisibleiQ9Y5L2. HS.

Organism-specific databases

HPAiHPA010515.

Interactioni

Binary interactionsi

Show more details

GO - Molecular functioni

  • receptor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi118964. 1 interactor.
IntActiQ9Y5L2. 2 interactors.
STRINGi9606.ENSP00000257696.

Structurei

3D structure databases

ProteinModelPortaliQ9Y5L2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 37Required for targeting to lipid dropletsAdd BLAST37

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410JJ0P. Eukaryota.
ENOG41114TU. LUCA.
GeneTreeiENSGT00390000014201.
HOGENOMiHOG000112896.
HOVERGENiHBG001634.
InParanoidiQ9Y5L2.
OMAiPGSSWTT.
OrthoDBiEOG091G1900.
PhylomeDBiQ9Y5L2.

Family and domain databases

InterProiView protein in InterPro
IPR026190. Hipoxia_HILPDA.
PANTHERiPTHR16886. PTHR16886. 1 hit.
PfamiView protein in Pfam
PF15220. HILPDA. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9Y5L2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MKHVLNLYLL GVVLTLLSIF VRVMESLEGL LESPSPGTSW TTRSQLANTE
60
PTKGLPDHPS RSM
Length:63
Mass (Da):6,950
Last modified:November 1, 1999 - v1
Checksum:i91EA626A511FC8B7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti21V → T in BAD96303 (Ref. 2) Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF144755 mRNA. Translation: AAD37585.1.
AK222583 mRNA. Translation: BAD96303.1.
CH236947 Genomic DNA. Translation: EAL24309.1.
BC001863 mRNA. Translation: AAH01863.1.
BC093742 mRNA. Translation: AAH93742.1.
BC112183 mRNA. Translation: AAI12184.1.
CCDSiCCDS5802.1.
RefSeqiNP_001092256.1. NM_001098786.1.
NP_037464.1. NM_013332.3.
UniGeneiHs.706124.

Genome annotation databases

EnsembliENST00000257696; ENSP00000257696; ENSG00000135245.
ENST00000435296; ENSP00000388871; ENSG00000135245.
GeneIDi29923.
KEGGihsa:29923.
UCSCiuc003vne.5. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF144755 mRNA. Translation: AAD37585.1.
AK222583 mRNA. Translation: BAD96303.1.
CH236947 Genomic DNA. Translation: EAL24309.1.
BC001863 mRNA. Translation: AAH01863.1.
BC093742 mRNA. Translation: AAH93742.1.
BC112183 mRNA. Translation: AAI12184.1.
CCDSiCCDS5802.1.
RefSeqiNP_001092256.1. NM_001098786.1.
NP_037464.1. NM_013332.3.
UniGeneiHs.706124.

3D structure databases

ProteinModelPortaliQ9Y5L2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118964. 1 interactor.
IntActiQ9Y5L2. 2 interactors.
STRINGi9606.ENSP00000257696.

PTM databases

iPTMnetiQ9Y5L2.
PhosphoSitePlusiQ9Y5L2.

Polymorphism and mutation databases

BioMutaiHILPDA.

Proteomic databases

MaxQBiQ9Y5L2.
PaxDbiQ9Y5L2.
PeptideAtlasiQ9Y5L2.
PRIDEiQ9Y5L2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257696; ENSP00000257696; ENSG00000135245.
ENST00000435296; ENSP00000388871; ENSG00000135245.
GeneIDi29923.
KEGGihsa:29923.
UCSCiuc003vne.5. human.

Organism-specific databases

CTDi29923.
DisGeNETi29923.
GeneCardsiHILPDA.
HGNCiHGNC:28859. HILPDA.
HPAiHPA010515.
neXtProtiNX_Q9Y5L2.
OpenTargetsiENSG00000135245.
PharmGKBiPA164717457.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JJ0P. Eukaryota.
ENOG41114TU. LUCA.
GeneTreeiENSGT00390000014201.
HOGENOMiHOG000112896.
HOVERGENiHBG001634.
InParanoidiQ9Y5L2.
OMAiPGSSWTT.
OrthoDBiEOG091G1900.
PhylomeDBiQ9Y5L2.

Enzyme and pathway databases

ReactomeiR-HSA-73923. Lipid digestion, mobilization, and transport.

Miscellaneous databases

ChiTaRSiHILPDA. human.
GenomeRNAii29923.
PROiPR:Q9Y5L2.

Gene expression databases

BgeeiENSG00000135245.
GenevisibleiQ9Y5L2. HS.

Family and domain databases

InterProiView protein in InterPro
IPR026190. Hipoxia_HILPDA.
PANTHERiPTHR16886. PTHR16886. 1 hit.
PfamiView protein in Pfam
PF15220. HILPDA. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiHLPDA_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5L2
Secondary accession number(s): A4D0Z5, Q52LY5, Q53HJ7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: March 15, 2017
This is version 118 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 7
    Human chromosome 7: entries, gene names and cross-references to MIM

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.