Q9Y241 (HIG1A_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HIG1 domain family member 1A

Alternative name(s):
Hypoxia-inducible gene 1 protein

Gene names

Name:	HIGD1A
Synonyms:	HIG1
ORF Names:	HSPC010

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	93 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Induction	By hypoxia. Ref.1
Sequence similarities	Contains 1 HIG1 domain.
Sequence caution	The sequence BG400624 differs from that shown. Reason: Frameshift at position 32.

Ontologies

Keywords
Biological process	Stress response
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
PTM	Acetylation
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Biological process	response to stress Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW protein complex Inferred from direct assay. Source: LIFEdb
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CASP4	P49662	1	EBI-1051940,EBI-1057327
PAK7	Q9P286	1	EBI-1051940,EBI-1051061
SNRPB	P14678	1	EBI-1051940,EBI-372458

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9Y241-1)

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.

Isoform 2 (identifier: Q9Y241-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEQKLVEEILQAITM

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Initiator methionine	1	1	Removed Ref.6
	Chain	2 – 93	92	HIG1 domain family member 1A		PRO_0000215770
Regions
	Topological domain	2 – 25	24	Cytoplasmic Potential
	Transmembrane	26 – 46	21	Helical; Potential
	Topological domain	47 – 59	13	Extracellular Potential
	Transmembrane	60 – 80	21	Helical; Potential
	Topological domain	81 – 93	13	Cytoplasmic Potential
	Domain	1 – 93	93	HIG1
Amino acid modifications
	Modified residue	2	1	N-acetylserine Ref.6
Natural variations
	Alternative sequence	1	1	M → MEQKLVEEILQAITM in isoform 2.		VSP_041211
Experimental info
	Sequence conflict	92	1	K → E in CAB53686. Ref.3
	Sequence conflict	92	1	K → E in CAG33666. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 1, 1999. Version 1. Checksum: 9399D8D1D381B66B	FASTA	93	10,143
	10 20 30 40 50 60 MSTDTGVSLP SYEEDQGSKL IRKAKEAPFV PVGIAGFAAI VAYGLYKLKS RGNTKMSIHL 70 80 90 IHMRVAAQGF VVGAMTVGMG YSMYREFWAK PKP
	Isoform 2 [UniParc]. Checksum: 50D7C32FE5921B0E	FASTA	107	11,770
	10 20 30 40 50 60 MEQKLVEEIL QAITMSTDTG VSLPSYEEDQ GSKLIRKAKE APFVPVGIAG FAAIVAYGLY 70 80 90 100 KLKSRGNTKM SIHLIHMRVA AQGFVVGAMT VGMGYSMYRE FWAKPKP

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: 10690527] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INDUCTION. Tissue: Cervix carcinoma.
[2]	"Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells." Zhang Q.-H., Ye M., Wu X.-Y., Ren S.-X., Zhao M., Zhao C.-J., Fu G., Shen Y., Fan H.-Y., Lu G., Zhong M., Xu X.-R., Han Z.-G., Zhang J.-W., Tao J., Huang Q.-H., Zhou J., Hu G.-X. , Gu J., Chen S.-J., Chen Z. Genome Res. 10:1546-1560(2000) [PubMed: 11042152] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Umbilical cord blood.
[3]	"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs." Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A. Genome Res. 11:422-435(2001) [PubMed: 11230166] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain.
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2). Tissue: Bone marrow, Brain, Lung and Skin.
[6]	Bienvenut W.V., Waridel P., Quadroni M. Submitted (MAR-2009) to UniProtKB Cited for: PROTEIN SEQUENCE OF 2-19 AND 26-47, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT SER-2, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[7]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF145385 mRNA. Translation: AAD33954.1. AF077034 mRNA. Translation: AAD27767.1. AL110233 mRNA. Translation: CAB53686.1. CR457385 mRNA. Translation: CAG33666.1. BC000601 mRNA. Translation: AAH00601.1. BC009583 mRNA. Translation: AAH09583.1. BC009594 mRNA. Translation: AAH09594.1. BC070277 mRNA. Translation: AAH70277.1. BG400624 mRNA. No translation available.
IPI	IPI00295621. IPI00856008.
PIR	T14766.
RefSeq	NP_001093138.1. NM_001099668.1. NP_001093139.1. NM_001099669.1. NP_054775.2. NM_014056.3.
UniGene	Hs.593134. Hs.728813. Hs.7917.
3D structure databases
ProteinModelPortal	Q9Y241.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9Y241. 2 interactions.
STRING	Q9Y241.
Polymorphism databases
DMDM	74753465.
Proteomic databases
PRIDE	Q9Y241.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000321331; ENSP00000319393; ENSG00000181061. ENST00000418900; ENSP00000402160; ENSG00000181061. ENST00000450099; ENSP00000408467; ENSG00000181061. ENST00000452906; ENSP00000398064; ENSG00000181061.
GeneID	25994.
KEGG	hsa:25994.
UCSC	uc003cma.2. human.
Organism-specific databases
CTD	25994.
GeneCards	GC03M042801.
H-InvDB	HIX0003212.
HGNC	HGNC:29527. HIGD1A.
HPA	HPA043336.
neXtProt	NX_Q9Y241.
PharmGKB	PA142671681.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG20568.
GeneTree	ENSGT00530000063398.
HOVERGEN	HBG054361.
InParanoid	Q9Y241.
OrthoDB	EOG4Z0B78.
PhylomeDB	Q9Y241.
Gene expression databases
ArrayExpress	Q9Y241.
Bgee	Q9Y241.
CleanEx	HS_HIGD1A.
Genevestigator	Q9Y241.
GermOnline	ENSG00000181061. Homo sapiens.
Family and domain databases
InterPro	IPR007667. Hypoxia_induced_domain. [Graphical view]
Pfam	PF04588. HIG_1_N. 1 hit. [Graphical view]
PROSITE	PS51503. HIG1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	47702.

Entry information

Entry name

HIG1A_HUMAN

Accession

Primary (citable) accession number: Q9Y241
Secondary accession number(s): Q9UFZ2

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 27, 2005
Last sequence update:	November 1, 1999
Last modified:	December 14, 2011
This is version 84 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.