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Protein

AP20 region protein 1

Gene

APRG1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
AP20 region protein 1
Gene namesi
Name:APRG1
Synonyms:C3orf35
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Unplaced

Organism-specific databases

HGNCiHGNC:24082. C3orf35.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei150 – 17021HelicalSequence analysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142672396.

Polymorphism and mutation databases

BioMutaiAPRG1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 170170AP20 region protein 1PRO_0000288935Add
BLAST

Proteomic databases

PaxDbiQ8IVJ8.
PRIDEiQ8IVJ8.

Expressioni

Tissue specificityi

Isoform 1 is expressed at high levels in the pancreas and placenta. Isoform 2 is expressed at high levels in the kidney.1 Publication

Gene expression databases

BgeeiQ8IVJ8.
CleanExiHS_C3orf35.

Organism-specific databases

HPAiHPA047196.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000331625.

Structurei

3D structure databases

ProteinModelPortaliQ8IVJ8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410KGBD. Eukaryota.
ENOG4110SFU. LUCA.
HOGENOMiHOG000034016.
InParanoidiQ8IVJ8.
OrthoDBiEOG7WHHCJ.
PhylomeDBiQ8IVJ8.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: Q8IVJ8-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MKTMATRKRC KLSRTGPEFE NVIKRLLCAR TFHTRIGGDL THGIINRGRR
60 70 80 90 100
ANAEQMGLQG SAQHFNIFPL DLWTQGKKTE VQKREGTDSI PAAGRSGTAN
110 120 130 140 150
QPSIAPHRCL FSRGITALDG LKRGRGCNGA AHLVRGDAWK TKLGEPWVSI
160 170
ALALAGPGAI LILELSWFLG
Length:170
Mass (Da):18,525
Last modified:November 25, 2008 - v2
Checksum:iBA90128339FE92D3
GO
Isoform 2 (identifier: Q8IVJ8-2) [UniParc]FASTAAdd to basket

Also known as: A

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

Show »
Length:78
Mass (Da):8,910
Checksum:i90D19A620899B862
GO
Isoform 3 (identifier: Q8IVJ8-3) [UniParc]FASTAAdd to basket

Also known as: E

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

Show »
Length:119
Mass (Da):13,172
Checksum:iE2B01876CC5F68EE
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti104 – 1041I → V in CAD42703 (PubMed:12543795).Curated
Sequence conflicti131 – 1311A → S in CAD42703 (PubMed:12543795).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071H → Y.
Corresponds to variant rs17266511 [ dbSNP | Ensembl ].
VAR_032538

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei77 – 17094KKTEV…SWFLG → DCMLVSLAKNKVNVFGAIIN MAASVSGVIGGLKFSRTYYV KGI in isoform 3. 2 PublicationsVSP_025846Add
BLAST
Alternative sequencei79 – 17092Missing in isoform 2. 1 PublicationVSP_025845Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ493599 mRNA. Translation: CAD42702.1.
AJ493600 mRNA. Translation: CAD42703.1.
AJ493603 mRNA. Translation: CAD42706.1.
AC092055 Genomic DNA. No translation available.
AC136290 Genomic DNA. No translation available.
BC132691 mRNA. Translation: AAI32692.1.
BC133024 mRNA. Translation: AAI33025.1.
BC144376 mRNA. Translation: AAI44377.1.
BC144377 mRNA. Translation: AAI44378.1.
RefSeqiNP_001289760.1. NM_001302831.1. [Q8IVJ8-3]
NP_001289761.1. NM_001302832.1. [Q8IVJ8-3]
NP_848029.2. NM_178339.2. [Q8IVJ8-1]
NP_848032.1. NM_178342.2. [Q8IVJ8-3]
NP_848034.2. NM_178344.2. [Q8IVJ8-3]
UniGeneiHs.475945.

Genome annotation databases

GeneIDi339883.
KEGGihsa:339883.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ493599 mRNA. Translation: CAD42702.1.
AJ493600 mRNA. Translation: CAD42703.1.
AJ493603 mRNA. Translation: CAD42706.1.
AC092055 Genomic DNA. No translation available.
AC136290 Genomic DNA. No translation available.
BC132691 mRNA. Translation: AAI32692.1.
BC133024 mRNA. Translation: AAI33025.1.
BC144376 mRNA. Translation: AAI44377.1.
BC144377 mRNA. Translation: AAI44378.1.
RefSeqiNP_001289760.1. NM_001302831.1. [Q8IVJ8-3]
NP_001289761.1. NM_001302832.1. [Q8IVJ8-3]
NP_848029.2. NM_178339.2. [Q8IVJ8-1]
NP_848032.1. NM_178342.2. [Q8IVJ8-3]
NP_848034.2. NM_178344.2. [Q8IVJ8-3]
UniGeneiHs.475945.

3D structure databases

ProteinModelPortaliQ8IVJ8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000331625.

Polymorphism and mutation databases

BioMutaiAPRG1.

Proteomic databases

PaxDbiQ8IVJ8.
PRIDEiQ8IVJ8.

Protocols and materials databases

DNASUi339883.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

GeneIDi339883.
KEGGihsa:339883.

Organism-specific databases

CTDi339883.
GeneCardsiC3orf35.
HGNCiHGNC:24082. C3orf35.
HPAiHPA047196.
MIMi611429. gene.
neXtProtiNX_Q8IVJ8.
PharmGKBiPA142672396.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410KGBD. Eukaryota.
ENOG4110SFU. LUCA.
HOGENOMiHOG000034016.
InParanoidiQ8IVJ8.
OrthoDBiEOG7WHHCJ.
PhylomeDBiQ8IVJ8.

Miscellaneous databases

GenomeRNAii339883.
NextBioi97603.
PROiQ8IVJ8.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IVJ8.
CleanExiHS_C3orf35.

Family and domain databases

ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3), TISSUE SPECIFICITY.
    Tissue: Heart, Kidney and Placenta.
  2. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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] (ISOFORM 3).
    Tissue: Brain.

Entry informationi

Entry nameiAPRG1_HUMAN
AccessioniPrimary (citable) accession number: Q8IVJ8
Secondary accession number(s): B7ZMA0, Q8IVJ5, Q8IVJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: November 25, 2008
Last modified: March 16, 2016
This is version 76 of the entry and version 2 of the sequence. [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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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.