Reviewed, UniProtKB/Swiss-Prot Q8IVJ8 (APRG1_HUMAN)

Names and origin

Protein names

Recommended name:
    AP20 region protein 1

Gene names

Name:	APRG1
Synonyms:	C3orf35

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

General annotation (Comments)

Subcellular location	Membrane; Single-pass membrane proteinPotential.
Tissue specificity	Isoform 1 is expressed at high levels in the pancreas and placenta while isoform 2 is expressed at high levels in the kidney.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transmembrane
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Notes: Additional isoforms seem to exist.

Isoform 1 (identifier: Q8IVJ8-1)

Also known as: B;

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: Q8IVJ8-2)

Also known as: A;

The sequence of this isoform differs from the canonical sequence as follows:
     79-170: Missing.

Isoform 3 (identifier: Q8IVJ8-3)

Also known as: E;

The sequence of this isoform differs from the canonical sequence as follows:
     77-170: KKTEVQKREG...LILELSWFLG → DCMLVSLAKN...FSRTYYVKGI

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view
Molecule processing
	Chain	1 – 170	170	AP20 region protein 1
Regions
	Transmembrane	150 – 170	21	Potential
Natural variations
	Alternative sequence	77 – 170	94	KKTEV…SWFLG → DCMLVSLAKNKVNVFGAIIN MAASVSGVIGGLKFSRTYYV KGI in isoform 3.
	Alternative sequence	79 – 170	92	Missing in isoform 2.
	Natural variant	107	1	H → Y: dbSNP rs17266511.

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (B) [UniParc]. Last modified March 1, 2003. Version 1. Checksum: 3C4B7A01A9EC105A	FASTA	170	18,527
	10 20 30 40 50 60 MKTMATRKRC KLSRTGPEFE NVIKRLLCAR TFHTRIGGDL THGIINRGRR ANAEQMGLQG 70 80 90 100 110 120 SAQHFNIFPL DLWTQGKKTE VQKREGTDSI PAAGRSGTAN QPSVAPHRCL FSRGITALDG 130 140 150 160 170 LKRGRGCNGA SHLVRGDAWK TKLGEPWVSI ALALAGPGAI LILELSWFLG
	Isoform 2 (A) [UniParc]. Checksum: 90D19A620899B862		78	8,910
	10 20 30 40 50 60 MKTMATRKRC KLSRTGPEFE NVIKRLLCAR TFHTRIGGDL THGIINRGRR ANAEQMGLQG 70 SAQHFNIFPL DLWTQGKK
	Isoform 3 (E) [UniParc]. Checksum: E2B01876CC5F68EE		119	13,172
	10 20 30 40 50 60 MKTMATRKRC KLSRTGPEFE NVIKRLLCAR TFHTRIGGDL THGIINRGRR ANAEQMGLQG 70 80 90 100 110 SAQHFNIFPL DLWTQGDCML VSLAKNKVNV FGAIINMAAS VSGVIGGLKF SRTYYVKGI

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"An integrated physical and gene map of the 3.5-Mb chromosome 3p21.3 (AP20) region implicated in major human epithelial malignancies." Protopopov A., Kashuba V., Zabarovska V.I., Muravenko O.V., Lerman M.I., Klein G., Zabarovsky E.R. Cancer Res. 63:404-412(2003) [PubMed: 12543795] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY. Tissue: Heart, Kidney and Placenta.
[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] (ISOFORM 3).
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ493599 mRNA. Translation: CAD42702.1. AJ493600 mRNA. Translation: CAD42703.1. AJ493603 mRNA. Translation: CAD42706.1. BC132691 mRNA. Translation: AAI32692.1. BC133024 mRNA. Translation: AAI33025.1.
RefSeq	NP_848029.2. NP_848032.1.
UniGene	Hs.475945
3D structure databases
ModBase	Search...
Genome annotation databases
Ensembl	ENSG00000198590. Homo sapiens. [Contig view]
GeneID	339883.
KEGG	hsa:339883.
Organism-specific databases
HGNC	HGNC:24082. C3orf35.
MIM	611429. gene.
PharmGKB	PA142672396.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	Q8IVJ8.
HOVERGEN	Q8IVJ8.
Gene expression databases
ArrayExpress	Q8IVJ8.
CleanEx	HS_C3orf35.
Family and domain databases
ProDom	Q8IVJ8. [Graphical view] [Entries sharing at least one domain]
BLOCKS	Search...
Other Resources
SOURCE	Search...
ProtoNet	Search...

Entry information

Entry name

APRG1_HUMAN

Accession

Primary (citable) accession number: Q8IVJ8
Secondary accession number(s): Q8IVJ5, Q8IVJ9

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 29, 2007
Last sequence update:	March 1, 2003
Last modified:	July 22, 2008
This is version 22 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)