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Q96Q80

- DERL3_HUMAN

UniProt

Q96Q80 - DERL3_HUMAN

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Protein
Derlin-3
Gene
DERL3, C22orf14, DER3, LLN2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Functional component of endoplasmic reticulum-associated degradation (ERAD) for misfolded lumenal glycoproteins, but not that of misfolded nonglycoproteins. May act by forming a channel that allows the retrotranslocation of misfolded glycoproteins into the cytosol where they are ubiquitinated and degraded by the proteasome. May mediate the interaction between VCP and the degradation substrate.2 Publications

GO - Molecular functioni

  1. protein binding Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. ER-associated ubiquitin-dependent protein catabolic process Source: UniProtKB
  2. endoplasmic reticulum unfolded protein response Source: UniProtKB
  3. protein N-linked glycosylation via asparagine Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Derlin-3
Alternative name(s):
Degradation in endoplasmic reticulum protein 3
Short name:
DERtrin-3
Der1-like protein 3
Gene namesi
Name:DERL3
Synonyms:C22orf14, DER3, LLN2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 22

Organism-specific databases

HGNCiHGNC:14236. DERL3.

Subcellular locationi

Endoplasmic reticulum membrane; Multi-pass membrane protein 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2222Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei23 – 4321Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini44 – 5815Lumenal Reviewed prediction
Add
BLAST
Transmembranei59 – 7921Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini80 – 9819Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei99 – 11921Helical; Name=3; Reviewed prediction
Add
BLAST
Topological domaini120 – 15738Lumenal Reviewed prediction
Add
BLAST
Transmembranei158 – 17821Helical; Name=4; Reviewed prediction
Add
BLAST
Topological domaini179 – 23557Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of endoplasmic reticulum membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA25883.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 235235Derlin-3
PRO_0000219048Add
BLAST

Proteomic databases

PaxDbiQ96Q80.
PRIDEiQ96Q80.

Expressioni

Tissue specificityi

Unlike DERL1 and DERL2, restricted to several tissues. Expressed at high levels in placenta, pancreas, spleen and small intestine.1 Publication

Inductioni

Up-regulated in response to endoplasmic reticulum stress via the ERN1-XBP1 pathway of the unfolded protein response (UPR) By similarity.

Gene expression databases

ArrayExpressiQ96Q80.
BgeeiQ96Q80.
CleanExiHS_DERL3.
GenevestigatoriQ96Q80.

Organism-specific databases

HPAiCAB037234.
HPA049306.

Interactioni

Subunit structurei

Forms homo- and heterooligomers with DERL2 and, to a lesser extent, with DERL1. Interacts with VCP, EDEM1, SELK and VIMP/SELS.2 Publications

Protein-protein interaction databases

BioGridi124816. 3 interactions.
STRINGi9606.ENSP00000384744.

Structurei

3D structure databases

ProteinModelPortaliQ96Q80.
SMRiQ96Q80. Positions 11-185.

Family & Domainsi

Sequence similaritiesi

Belongs to the derlin family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG5291.
HOGENOMiHOG000200948.
HOVERGENiHBG051338.
KOiK13989.
OrthoDBiEOG73RBC2.
PhylomeDBiQ96Q80.
TreeFamiTF314715.

Family and domain databases

InterProiIPR007599. DER1.
[Graphical view]
PANTHERiPTHR11009. PTHR11009. 1 hit.
PfamiPF04511. DER1. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96Q80-1) [UniParc]FASTAAdd to Basket

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

MAWQGLAAEF LQVPAVTRAY TAACVLTTAA VQLELLSPFQ LYFNPHLVFR    50
KFQVWRLVTN FLFFGPLGFS FFFNMLFVFR YCRMLEEGSF RGRTADFVFM 100
FLFGGVLMTL LGLLGSLFFL GQALMAMLVY VWSRRSPRVR VNFFGLLTFQ 150
APFLPWALMG FSLLLGNSIL VDLLGIAVGH IYYFLEDVFP NQPGGKRLLQ 200
TPGFLKLLLD APAEDPNYLP LPEEQPGPHL PPPQQ 235
Length:235
Mass (Da):26,679
Last modified:July 19, 2004 - v2
Checksum:i2DC5F02487C4B824
GO
Isoform 2 (identifier: Q96Q80-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-235: KLLLDAPAEDPNYLPLPEEQPGPHLPPPQQ → GLQSSKAPAGSSLTIWTQQSQGGPGTAGELAAPS

Note: No experimental confirmation available.

Show »
Length:239
Mass (Da):26,605
Checksum:i7297772E29193957
GO
Isoform 3 (identifier: Q96Q80-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-235: KLLLDAPAEDPNYLPLPEEQPGPHLPPPQQ → LATAQQCPHRTGPSAGDFRAARPQLAVA

Note: No experimental confirmation available.

Show »
Length:233
Mass (Da):26,255
Checksum:i98A860411ED2C73B
GO
Isoform 4 (identifier: Q96Q80-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-74: Missing.
     110-205: LLGLLGSLFF...KRLLQTPGFL → VSFPQALEPR...LCSTRAPPHR

Note: No experimental confirmation available.

Show »
Length:225
Mass (Da):23,859
Checksum:i30576E135EC94D48
GO
Isoform 5 (identifier: Q96Q80-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     206-235: Missing.

Note: No experimental confirmation available.

Show »
Length:205
Mass (Da):23,382
Checksum:iE125D7D2EDBB8031
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti149 – 1491F → L.1 Publication
Corresponds to variant rs3177243 [ dbSNP | Ensembl ].
VAR_048897
Natural varianti211 – 2111A → V.1 Publication
Corresponds to variant rs1128127 [ dbSNP | Ensembl ].
VAR_019517

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7474Missing in isoform 4.
VSP_011086Add
BLAST
Alternative sequencei110 – 20596LLGLL…TPGFL → VSFPQALEPRARAPRRPACV GPGANTAMPERDTVAVSSLV CVEGPLCAQLQGSGLDLQCC MQNTKPRTKEPGTVPALGAH GLLAAAGQLHPRGPAGDCGG PYLLLPGGRLPQPAWRQEAP ADPWLPVSVESPPSLSPPSE GSPPMGTCAGLCSTRAPPHR in isoform 4.
VSP_011087Add
BLAST
Alternative sequencei206 – 23530KLLLD…PPPQQ → GLQSSKAPAGSSLTIWTQQS QGGPGTAGELAAPS in isoform 2.
VSP_011088Add
BLAST
Alternative sequencei206 – 23530KLLLD…PPPQQ → LATAQQCPHRTGPSAGDFRA ARPQLAVA in isoform 3.
VSP_011089Add
BLAST
Alternative sequencei206 – 23530Missing in isoform 5.
VSP_046330Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB049213 Genomic DNA. Translation: BAB68409.1.
AL389876 mRNA. No translation available.
AK125830 mRNA. Translation: BAC86311.1.
CR456372 mRNA. Translation: CAG30258.1.
AP000350 Genomic DNA. No translation available.
BC057830 mRNA. Translation: AAH57830.1.
CCDSiCCDS33615.1. [Q96Q80-1]
CCDS42986.1. [Q96Q80-5]
CCDS46672.1. [Q96Q80-2]
RefSeqiNP_001002862.1. NM_001002862.2. [Q96Q80-1]
NP_001129223.1. NM_001135751.1. [Q96Q80-2]
NP_940842.2. NM_198440.3. [Q96Q80-5]
UniGeneiHs.593679.

Genome annotation databases

EnsembliENST00000318109; ENSP00000315303; ENSG00000099958. [Q96Q80-1]
ENST00000406855; ENSP00000384744; ENSG00000099958. [Q96Q80-2]
ENST00000476077; ENSP00000419399; ENSG00000099958. [Q96Q80-5]
GeneIDi91319.
KEGGihsa:91319.
UCSCiuc002zyh.3. human. [Q96Q80-1]
uc002zyj.3. human. [Q96Q80-4]
uc002zyk.4. human. [Q96Q80-2]

Polymorphism databases

DMDMi50400613.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB049213 Genomic DNA. Translation: BAB68409.1 .
AL389876 mRNA. No translation available.
AK125830 mRNA. Translation: BAC86311.1 .
CR456372 mRNA. Translation: CAG30258.1 .
AP000350 Genomic DNA. No translation available.
BC057830 mRNA. Translation: AAH57830.1 .
CCDSi CCDS33615.1. [Q96Q80-1 ]
CCDS42986.1. [Q96Q80-5 ]
CCDS46672.1. [Q96Q80-2 ]
RefSeqi NP_001002862.1. NM_001002862.2. [Q96Q80-1 ]
NP_001129223.1. NM_001135751.1. [Q96Q80-2 ]
NP_940842.2. NM_198440.3. [Q96Q80-5 ]
UniGenei Hs.593679.

3D structure databases

ProteinModelPortali Q96Q80.
SMRi Q96Q80. Positions 11-185.
ModBasei Search...

Protein-protein interaction databases

BioGridi 124816. 3 interactions.
STRINGi 9606.ENSP00000384744.

Polymorphism databases

DMDMi 50400613.

Proteomic databases

PaxDbi Q96Q80.
PRIDEi Q96Q80.

Protocols and materials databases

DNASUi 91319.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000318109 ; ENSP00000315303 ; ENSG00000099958 . [Q96Q80-1 ]
ENST00000406855 ; ENSP00000384744 ; ENSG00000099958 . [Q96Q80-2 ]
ENST00000476077 ; ENSP00000419399 ; ENSG00000099958 . [Q96Q80-5 ]
GeneIDi 91319.
KEGGi hsa:91319.
UCSCi uc002zyh.3. human. [Q96Q80-1 ]
uc002zyj.3. human. [Q96Q80-4 ]
uc002zyk.4. human. [Q96Q80-2 ]

Organism-specific databases

CTDi 91319.
GeneCardsi GC22M024176.
HGNCi HGNC:14236. DERL3.
HPAi CAB037234.
HPA049306.
MIMi 610305. gene.
neXtProti NX_Q96Q80.
PharmGKBi PA25883.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5291.
HOGENOMi HOG000200948.
HOVERGENi HBG051338.
KOi K13989.
OrthoDBi EOG73RBC2.
PhylomeDBi Q96Q80.
TreeFami TF314715.

Miscellaneous databases

GeneWikii Derlin-3.
GenomeRNAii 91319.
NextBioi 77178.
PROi Q96Q80.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96Q80.
Bgeei Q96Q80.
CleanExi HS_DERL3.
Genevestigatori Q96Q80.

Family and domain databases

InterProi IPR007599. DER1.
[Graphical view ]
PANTHERi PTHR11009. PTHR11009. 1 hit.
Pfami PF04511. DER1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular cloning of a novel member of the NADH oxidoreductase complex I subunit homolog."
    Shimizu N., Minosima S., Kawasaki K., Sasaki T.
    Submitted (SEP-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE (ISOFORM 3).
  2. The European IMAGE consortium
    Submitted (JUL-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5), VARIANT LEU-149.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), VARIANT VAL-211.
    Tissue: Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  5. "The DNA sequence of human chromosome 22."
    Dunham I., Hunt A.R., Collins J.E., Bruskiewich R., Beare D.M., Clamp M., Smink L.J., Ainscough R., Almeida J.P., Babbage A.K., Bagguley C., Bailey J., Barlow K.F., Bates K.N., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M.
    , Buck D., Burgess J., Burrill W.D., Burton J., Carder C., Carter N.P., Chen Y., Clark G., Clegg S.M., Cobley V.E., Cole C.G., Collier R.E., Connor R., Conroy D., Corby N.R., Coville G.J., Cox A.V., Davis J., Dawson E., Dhami P.D., Dockree C., Dodsworth S.J., Durbin R.M., Ellington A.G., Evans K.L., Fey J.M., Fleming K., French L., Garner A.A., Gilbert J.G.R., Goward M.E., Grafham D.V., Griffiths M.N.D., Hall C., Hall R.E., Hall-Tamlyn G., Heathcott R.W., Ho S., Holmes S., Hunt S.E., Jones M.C., Kershaw J., Kimberley A.M., King A., Laird G.K., Langford C.F., Leversha M.A., Lloyd C., Lloyd D.M., Martyn I.D., Mashreghi-Mohammadi M., Matthews L.H., Mccann O.T., Mcclay J., Mclaren S., McMurray A.A., Milne S.A., Mortimore B.J., Odell C.N., Pavitt R., Pearce A.V., Pearson D., Phillimore B.J.C.T., Phillips S.H., Plumb R.W., Ramsay H., Ramsey Y., Rogers L., Ross M.T., Scott C.E., Sehra H.K., Skuce C.D., Smalley S., Smith M.L., Soderlund C., Spragon L., Steward C.A., Sulston J.E., Swann R.M., Vaudin M., Wall M., Wallis J.M., Whiteley M.N., Willey D.L., Williams L., Williams S.A., Williamson H., Wilmer T.E., Wilming L., Wright C.L., Hubbard T., Bentley D.R., Beck S., Rogers J., Shimizu N., Minoshima S., Kawasaki K., Sasaki T., Asakawa S., Kudoh J., Shintani A., Shibuya K., Yoshizaki Y., Aoki N., Mitsuyama S., Roe B.A., Chen F., Chu L., Crabtree J., Deschamps S., Do A., Do T., Dorman A., Fang F., Fu Y., Hu P., Hua A., Kenton S., Lai H., Lao H.I., Lewis J., Lewis S., Lin S.-P., Loh P., Malaj E., Nguyen T., Pan H., Phan S., Qi S., Qian Y., Ray L., Ren Q., Shaull S., Sloan D., Song L., Wang Q., Wang Y., Wang Z., White J., Willingham D., Wu H., Yao Z., Zhan M., Zhang G., Chissoe S., Murray J., Miller N., Minx P., Fulton R., Johnson D., Bemis G., Bentley D., Bradshaw H., Bourne S., Cordes M., Du Z., Fulton L., Goela D., Graves T., Hawkins J., Hinds K., Kemp K., Latreille P., Layman D., Ozersky P., Rohlfing T., Scheet P., Walker C., Wamsley A., Wohldmann P., Pepin K., Nelson J., Korf I., Bedell J.A., Hillier L.W., Mardis E., Waterston R., Wilson R., Emanuel B.S., Shaikh T., Kurahashi H., Saitta S., Budarf M.L., McDermid H.E., Johnson A., Wong A.C.C., Morrow B.E., Edelmann L., Kim U.J., Shizuya H., Simon M.I., Dumanski J.P., Peyrard M., Kedra D., Seroussi E., Fransson I., Tapia I., Bruder C.E., O'Brien K.P., Wilkinson P., Bodenteich A., Hartman K., Hu X., Khan A.S., Lane L., Tilahun Y., Wright H.
    Nature 402:489-495(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "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 1).
    Tissue: Placenta.
  7. "Derlin-2 and Derlin-3 are regulated by the mammalian unfolded protein response and are required for ER-associated degradation."
    Oda Y., Okada T., Yoshida H., Kaufman R.J., Nagata K., Mori K.
    J. Cell Biol. 172:383-393(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, MEMBRANE TOPOLOGY, OLIGOMERIZATION, INTERACTION WITH VCP AND EDEM1.
  8. "Selenoprotein K binds multiprotein complexes and is involved in the regulation of endoplasmic reticulum homeostasis."
    Shchedrina V.A., Everley R.A., Zhang Y., Gygi S.P., Hatfield D.L., Gladyshev V.N.
    J. Biol. Chem. 286:42937-42948(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH SELK AND VIMP.
  9. "STT3B-dependent posttranslational N-glycosylation as a surveillance system for secretory protein."
    Sato T., Sako Y., Sho M., Momohara M., Suico M.A., Shuto T., Nishitoh H., Okiyoneda T., Kokame K., Kaneko M., Taura M., Miyata M., Chosa K., Koga T., Morino-Koga S., Wada I., Kai H.
    Mol. Cell 47:99-110(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN ERAD PATHWAY.

Entry informationi

Entry nameiDERL3_HUMAN
AccessioniPrimary (citable) accession number: Q96Q80
Secondary accession number(s): F2Z3B6
, Q6ICJ6, Q6PEX0, Q6ZUB5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2004
Last sequence update: July 19, 2004
Last modified: July 9, 2014
This is version 98 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 22
    Human chromosome 22: 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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