Reviewed, UniProtKB/Swiss-Prot Q9UKJ5 (CHIC2_HUMAN)

Names and origin

Protein names

Recommended name:
    Cysteine-rich hydrophobic domain 2 protein
Alternative name(s):
    BrX-like translocated in leukemia

Gene names

Name:	CHIC2
Synonyms:	BTL

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	165 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Subcellular location	Cell membrane. Cytoplasmic vesicle. Note: Also present at a Golgi-like vesicular compartment and at scattered vesicles. Ref.3
Post-translational modification	Palmitoylation in the CHIC motif is required for membrane association.
Involvement in disease	A chromosomal aberration involving CHIC2 is found in a form of acute myeloid leukemia (AML). Translocation t(4;12)(q12;p13) with ETV6.
Sequence similarities	Belongs to the CHIC family.

Ontologies

Keywords
Cellular component	Cell membrane Cytoplasmic vesicle Membrane
Coding sequence diversity	Chromosomal rearrangement
Domain	Coiled coil
PTM	Lipoprotein Palmitate
Gene Ontology (GO)
Cellular component	plasma membrane Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 165	165	Cysteine-rich hydrophobic domain 2 protein		PRO_0000189556
Regions
	Coiled coil	1 – 26	26	Potential
	Motif	88 – 106	19	CHIC motif (Cys-rich)
	Compositional bias	9 – 15	7	Poly-Glu
Sites
	Site	111 – 112	2	Breakpoint for translocation to form CHIC2-ETV6 in AML
Experimental info
	Mutagenesis	88 – 95	8	CGCLCCCC → SGSLSSSS: Loss of palmitoylation. Abolishes membrane association. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q9UKJ5-1 [UniParc]. Last modified May 1, 2000. Version 1. Checksum: DC32A9C58524B55E	FASTA	165	19,254
	10 20 30 40 50 60 MADFDEIYEE EEDEERALEE QLLKYSPDPV VVRGSGHVTV FGLSNKFESE FPSSLTGKVA 70 80 90 100 110 120 PEEFKASINR VNSCLKKNLP VNVRWLLCGC LCCCCTLGCS MWPVICLSKR TRRSIEKLLE 130 140 150 160 WENNRLYHKL CLHWRLSKRK CETNNMMEYV ILIEFLPKTP IFRPD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13)." Cools J., Bilhou-Nabera C., Wlodarska I., Cabrol C., Talmant P., Bernard P., Hagemeijer A., Marynen P. Blood 94:1820-1824(1999) [PubMed: 10477709] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], CHROMOSOMAL TRANSLOCATION WITH ETV6.
[2]	"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]. Tissue: Skin.
[3]	"A new family of small, palmitoylated, membrane-associated proteins, characterized by the presence of a cysteine-rich hydrophobic motif." Cools J., Mentens N., Marynen P. FEBS Lett. 492:204-209(2001) [PubMed: 11257495] [Abstract] Cited for: SUBCELLULAR LOCATION, MUTAGENESIS OF 88-CYS--CYS-95, PALMITOYLATION.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBLGenBankDDBJ	AF159423 mRNA. Translation: AAD55981.1. BC034691 mRNA. Translation: AAH34691.1.
IPI	IPI00015878.
RefSeq	NP_036242.1.
UniGene	Hs.335393
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9UKJ5. 8 interactions.
Proteomic databases
PRIDE	Q9UKJ5.
Genome annotation databases
Ensembl	ENSG00000109220. Homo sapiens. [Contig view]
GeneID	26511.
KEGG	hsa:26511.
Organism-specific databases
GeneCards	GC04M054570.
H-InvDB	HIX0024558.
HGNC	HGNC:1935. CHIC2.
MIM	604332. gene.
PharmGKB	PA26466.
GenAtlas	Search...
Phylogenomic databases
HOGENOM	Q9UKJ5.
HOVERGEN	Q9UKJ5.
OMA	Q9UKJ5. EWENSRL.
Gene expression databases
ArrayExpress	Q9UKJ5.
Bgee	Q9UKJ5.
CleanEx	HS_CHIC2.
GermOnline	ENSG00000109220. Homo sapiens.
Family and domain databases
InterPro	IPR019383. Golgin_A_7/ERF4. [Graphical view]
Pfam	PF10256. Erf4. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	48808.
SOURCE	Search...

Entry information

Entry name

CHIC2_HUMAN

Accession

Primary (citable) accession number: Q9UKJ5

Entry history

Integrated into UniProtKB/Swiss-Prot:	February 1, 2005
Last sequence update:	May 1, 2000
Last modified:	June 16, 2009
This is version 53 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)