Q9Y5L2 (HLPDA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Hypoxia-inducible lipid droplet-associated protein

Alternative name(s):
Hypoxia-inducible gene 2 protein

Gene names

Name:	HILPDA
Synonyms:	C7orf68, HIG2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	63 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Increases intracellular lipid accumulation. Stimulates expression of cytokines including IL6, MIF and VEGFA. Enhances cell growth and proliferation. Ref.5 Ref.7
Subcellular location	Lipid droplet. Secreted. Membrane; Single-pass membrane protein Potential Ref.5 Ref.7.
Tissue specificity	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). Ref.5 Ref.7 Ref.8
Induction	By hypoxia but highly abundant under normoxic conditions (at protein level). Ref.1 Ref.7

Ontologies

Keywords
Biological process	Stress response
Cellular component	Lipid droplet Membrane Secreted
Domain	Transmembrane Transmembrane helix
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	autocrine signaling Inferred from direct assay Ref.5. Source: BHF-UCL positive regulation of cell proliferation Inferred from direct assay Ref.5. Source: BHF-UCL positive regulation of cytokine production Inferred from direct assay Ref.7. Source: UniProtKB positive regulation of lipid storage Inferred from direct assay Ref.7. Source: UniProtKB response to stress Non-traceable author statement Ref.1. Source: UniProtKB
Cellular_component	cell surface Inferred from direct assay Ref.5. Source: BHF-UCL extracellular space Inferred from direct assay Ref.5. Source: BHF-UCL integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW lipid particle Inferred from direct assay Ref.7. Source: UniProtKB secretory granule Inferred from direct assay Ref.5. Source: BHF-UCL
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 63	63	Hypoxia-inducible lipid droplet-associated protein		PRO_0000083976
Regions
	Transmembrane	7 – 23	17	Helical; Potential
	Region	1 – 37	37	Required for targeting to lipid droplets
Amino acid modifications
	Modified residue	44	1	Phosphoserine Ref.6
Experimental info
	Mutagenesis	8 – 9	2	YL → DD: Loss of targeting to lipid droplets and elimination of protein.
	Mutagenesis	41	1	T → K: No effect on lipid droplet targeting or protein expression; when associated with K-44. Ref.7
	Mutagenesis	44	1	S → K: No effect on lipid droplet targeting or protein expression; when associated with K-41. Ref.7
	Sequence conflict	21	1	V → T in BAD96303. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Q9Y5L2 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 91EA626A511FC8B7	FASTA	63	6,950
	10 20 30 40 50 60 MKHVLNLYLL GVVLTLLSIF VRVMESLEGL LESPSPGTSW TTRSQLANTE PTKGLPDHPS RSM

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Epigenetic regulation of gene expression in cervical cancer cells by the tumor microenvironment." Denko N.C., Schindler C., Koong A., Laderoute K., Green C., Giaccia A.J. Clin. Cancer Res. 6:480-487(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], INDUCTION. Tissue: Cervix carcinoma.
[2]	Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S. Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Coronary artery.
[3]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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]. Tissue: Cerebellum and Lung carcinoma.
[5]	"Hypoxia-inducible protein 2 (HIG2), a novel diagnostic marker for renal cell carcinoma and potential target for molecular therapy." Togashi A., Katagiri T., Ashida S., Fujioka T., Maruyama O., Wakumoto Y., Sakamoto Y., Fujime M., Kawachi Y., Shuin T., Nakamura Y. Cancer Res. 65:4817-4826(2005) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
[6]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-44, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[7]	"Hypoxia-inducible protein 2 is a novel lipid droplet protein and a specific target gene of hypoxia-inducible factor-1." Gimm T., Wiese M., Teschemacher B., Deggerich A., Schodel J., Knaup K.X., Hackenbeck T., Hellerbrand C., Amann K., Wiesener M.S., Honing S., Eckardt K.U., Warnecke C. FASEB J. 24:4443-4458(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, INDUCTION, MUTAGENESIS OF 8-TRY-LEU-9; THR-41 AND SER-44.
[8]	"Expression of hypoxia-inducible 2 (HIG2) protein in uterine cancer." Nishimura S., Tsuda H., Nomura H., Kataoka F., Chiyoda T., Tanaka H., Tanaka K., Susumu N., Aoki D. Eur. J. Gynaecol. Oncol. 32:146-149(2011) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00001583.
RefSeq	NP_001092256.1. NM_001098786.1. NP_037464.1. NM_013332.3.
UniGene	Hs.706124.
3D structure databases
ProteinModelPortal	Q9Y5L2.
ModBase	Search...
PTM databases
PhosphoSite	Q9Y5L2.
Proteomic databases
PaxDb	Q9Y5L2.
PRIDE	Q9Y5L2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000257696; ENSP00000257696; ENSG00000135245. ENST00000435296; ENSP00000388871; ENSG00000135245.
GeneID	29923.
KEGG	hsa:29923.
UCSC	uc003vne.4. human.
Organism-specific databases
CTD	29923.
GeneCards	GC07P128112.
HGNC	HGNC:28859. HILPDA.
HPA	HPA010515.
neXtProt	NX_Q9Y5L2.
PharmGKB	PA164717457.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG40721.
HOGENOM	HOG000112896.
HOVERGEN	HBG001634.
InParanoid	Q9Y5L2.
OMA	HPSRGVQ.
OrthoDB	EOG45TCPZ.
PhylomeDB	Q9Y5L2.
Gene expression databases
Bgee	Q9Y5L2.
Genevestigator	Q9Y5L2.
GermOnline	ENSG00000135245. Homo sapiens.
Family and domain databases
InterPro	IPR026190. Hipoxia_HILPDA. [Graphical view]
PANTHER	PTHR16886. PTHR16886. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	HILPDA. human.
GenomeRNAi	29923.
NextBio	52530.

Entry information

Entry name

HLPDA_HUMAN

Accession

Primary (citable) accession number: Q9Y5L2
Secondary accession number(s): A4D0Z5, Q52LY5, Q53HJ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	November 1, 1999
Last modified:	April 3, 2013
This is version 87 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.