Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Zinc phosphodiesterase ELAC protein 2

Gene

ELAC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Zinc phosphodiesterase, which displays mitochondrial tRNA 3'-processing endonuclease activity. Involved in tRNA maturation, by removing a 3'-trailer from precursor tRNA.1 Publication

Catalytic activityi

Endonucleolytic cleavage of RNA, removing extra 3' nucleotides from tRNA precursor, generating 3' termini of tRNAs. A 3'-hydroxy group is left at the tRNA terminus and a 5'-phosphoryl group is left at the trailer molecule.1 Publication

Cofactori

Zn2+Curated

GO - Molecular functioni

GO - Biological processi

  • mitochondrial tRNA 3'-trailer cleavage, endonucleolytic Source: UniProtKB
  • mitochondrial tRNA processing Source: Reactome
  • tRNA 3'-end processing Source: Reactome

Keywordsi

Molecular functionEndonuclease, Hydrolase, Nuclease
Biological processtRNA processing
LigandMetal-binding, Zinc

Enzyme and pathway databases

BRENDAi3.1.26.11 2681
ReactomeiR-HSA-6784531 tRNA processing in the nucleus
R-HSA-6785470 tRNA processing in the mitochondrion
R-HSA-8868766 rRNA processing in the mitochondrion

Names & Taxonomyi

Protein namesi
Recommended name:
Zinc phosphodiesterase ELAC protein 2 (EC:3.1.26.11)
Alternative name(s):
ElaC homolog protein 2
Heredity prostate cancer protein 2
Ribonuclease Z 2
Short name:
RNase Z 2
tRNA 3 endonuclease 2
tRNase Z 2
Gene namesi
Name:ELAC2
Synonyms:HPC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000006744.18
HGNCiHGNC:14198 ELAC2
MIMi605367 gene
neXtProtiNX_Q9BQ52

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Prostate cancer, hereditary, 2 (HPC2)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA condition associated with familial predisposition to cancer of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma.
See also OMIM:614731
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017425211R → Q in HPC2. 1 PublicationCorresponds to variant dbSNP:rs148419785Ensembl.1
Natural variantiVAR_017426217S → L in HPC2; does not affect the enzymatic activity. 10 PublicationsCorresponds to variant dbSNP:rs4792311EnsemblClinVar.1
Natural variantiVAR_017427487G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs752234492Ensembl.1
Natural variantiVAR_017428541A → T in HPC2; does not affect the enzymatic activity. 7 PublicationsCorresponds to variant dbSNP:rs5030739EnsemblClinVar.1
Natural variantiVAR_017429622E → V in HPC2; higher frequency in prostate cancer cases. 1 PublicationCorresponds to variant dbSNP:rs119484087EnsemblClinVar.1
Natural variantiVAR_017431781R → H in HPC2; does not affect the enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs119484086EnsemblClinVar.1
Natural variantiVAR_017432806G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs770669443Ensembl.1
Combined oxidative phosphorylation deficiency 17 (COXPD17)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder of mitochondrial dysfunction characterized by onset of severe hypertrophic cardiomyopathy in the first year of life. Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood.
See also OMIM:615440
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070844154F → L in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515465EnsemblClinVar.1
Natural variantiVAR_070845423L → F in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515466EnsemblClinVar.1
Natural variantiVAR_070846520T → I in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515463EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease, Proto-oncogene

Organism-specific databases

DisGeNETi60528
MalaCardsiELAC2
MIMi176807 phenotype
614731 phenotype
615440 phenotype
OpenTargetsiENSG00000006744
Orphaneti369913 Combined oxidative phosphorylation defect type 17
1331 Familial prostate cancer
PharmGKBiPA27739

Polymorphism and mutation databases

BioMutaiELAC2
DMDMi41017788

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 16MitochondrionSequence analysisAdd BLAST16
ChainiPRO_000015582817 – 826Zinc phosphodiesterase ELAC protein 2Add BLAST810

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei199PhosphoserineCombined sources1
Modified residuei208PhosphoserineCombined sources1
Modified residuei212PhosphoserineCombined sources1
Modified residuei229PhosphoserineCombined sources1
Modified residuei618PhosphoserineCombined sources1
Modified residuei736PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9BQ52
MaxQBiQ9BQ52
PaxDbiQ9BQ52
PeptideAtlasiQ9BQ52
PRIDEiQ9BQ52
ProteomicsDBi78627
78628 [Q9BQ52-2]
78629 [Q9BQ52-3]
78630 [Q9BQ52-4]

PTM databases

iPTMnetiQ9BQ52
PhosphoSitePlusiQ9BQ52
SwissPalmiQ9BQ52

Expressioni

Tissue specificityi

Widely expressed. Highly expressed in heart, placenta, liver, skeletal muscle, kidney, pancreas, testis and ovary. Weakly expressed in brain, lung, spleen, thymus, prostate, small intestine, colon and leukocytes.1 Publication

Gene expression databases

BgeeiENSG00000006744 Expressed in 229 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_ELAC2
ExpressionAtlasiQ9BQ52 baseline and differential
GenevisibleiQ9BQ52 HS

Organism-specific databases

HPAiHPA019535

Interactioni

Subunit structurei

Homodimer (By similarity). Interacts with PTCD1.By similarity1 Publication

Protein-protein interaction databases

BioGridi121937, 52 interactors
IntActiQ9BQ52, 15 interactors
STRINGi9606.ENSP00000337445

Structurei

3D structure databases

ProteinModelPortaliQ9BQ52
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the RNase Z family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2121 Eukaryota
COG1234 LUCA
GeneTreeiENSGT00730000111191
HOGENOMiHOG000007499
HOVERGENiHBG050042
InParanoidiQ9BQ52
KOiK00784
OMAiYICQLKP
OrthoDBiEOG091G028A
PhylomeDBiQ9BQ52
TreeFamiTF105797

Family and domain databases

Gene3Di3.60.15.10, 1 hit
InterProiView protein in InterPro
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro
IPR027794 tRNase_Z_dom
PfamiView protein in Pfam
PF12706 Lactamase_B_2, 1 hit
PF13691 Lactamase_B_4, 1 hit
SUPFAMiSSF56281 SSF56281, 3 hits

Sequences (4+)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9BQ52-1) [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
        10         20         30         40         50
MWALCSLLRS AAGRTMSQGR TISQAPARRE RPRKDPLRHL RTREKRGPSG
60 70 80 90 100
CSGGPNTVYL QVVAAGSRDS GAALYVFSEF NRYLFNCGEG VQRLMQEHKL
110 120 130 140 150
KVARLDNIFL TRMHWSNVGG LSGMILTLKE TGLPKCVLSG PPQLEKYLEA
160 170 180 190 200
IKIFSGPLKG IELAVRPHSA PEYEDETMTV YQIPIHSEQR RGKHQPWQSP
210 220 230 240 250
ERPLSRLSPE RSSDSESNEN EPHLPHGVSQ RRGVRDSSLV VAFICKLHLK
260 270 280 290 300
RGNFLVLKAK EMGLPVGTAA IAPIIAAVKD GKSITHEGRE ILAEELCTPP
310 320 330 340 350
DPGAAFVVVE CPDESFIQPI CENATFQRYQ GKADAPVALV VHMAPASVLV
360 370 380 390 400
DSRYQQWMER FGPDTQHLVL NENCASVHNL RSHKIQTQLN LIHPDIFPLL
410 420 430 440 450
TSFRCKKEGP TLSVPMVQGE CLLKYQLRPR REWQRDAIIT CNPEEFIVEA
460 470 480 490 500
LQLPNFQQSV QEYRRSAQDG PAPAEKRSQY PEIIFLGTGS AIPMKIRNVS
510 520 530 540 550
ATLVNISPDT SLLLDCGEGT FGQLCRHYGD QVDRVLGTLA AVFVSHLHAD
560 570 580 590 600
HHTGLPSILL QRERALASLG KPLHPLLVVA PNQLKAWLQQ YHNQCQEVLH
610 620 630 640 650
HISMIPAKCL QEGAEISSPA VERLISSLLR TCDLEEFQTC LVRHCKHAFG
660 670 680 690 700
CALVHTSGWK VVYSGDTMPC EALVRMGKDA TLLIHEATLE DGLEEEAVEK
710 720 730 740 750
THSTTSQAIS VGMRMNAEFI MLNHFSQRYA KVPLFSPNFS EKVGVAFDHM
760 770 780 790 800
KVCFGDFPTM PKLIPPLKAL FAGDIEEMEE RREKRELRQV RAALLSRELA
810 820
GGLEDGEPQQ KRAHTEEPQA KKVRAQ
Length:826
Mass (Da):92,219
Last modified:January 16, 2004 - v2
Checksum:i4AE701C755EC7339
GO
Isoform 2 (identifier: Q9BQ52-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-94: Missing.
     554-595: GLPSILLQRE...AWLQQYHNQC → VSVGLDHKAG...CPELLLLISG
     596-826: Missing.

Note: No experimental confirmation available.
Show »
Length:501
Mass (Da):56,095
Checksum:iC1C61F066EE55707
GO
Isoform 3 (identifier: Q9BQ52-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-372: Missing.
     373-406: NCASVHNLRSHKIQTQLNLIHPDIFPLLTSFRCK → MRTVPQFTTFAATRFKPSSTSSTRTSSPCSPVSA

Note: No experimental confirmation available.
Show »
Length:454
Mass (Da):50,615
Checksum:i8A85498B4B0BFDED
GO
Isoform 4 (identifier: Q9BQ52-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     188-227: Missing.

Note: No experimental confirmation available.
Show »
Length:786
Mass (Da):87,564
Checksum:i783F20F15CB91BAC
GO

Computationally mapped potential isoform sequencesi

There are 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G5E9D5G5E9D5_HUMAN
ElaC homolog 2 (E. coli), isoform C...
ELAC2 hCG_29734
807Annotation score:
E7ES68E7ES68_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
626Annotation score:
H7C2I4H7C2I4_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
286Annotation score:
V9GZ72V9GZ72_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
158Annotation score:
V9GYU5V9GYU5_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
124Annotation score:
J3QL08J3QL08_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
132Annotation score:
V9GYS7V9GYS7_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
242Annotation score:
J3QRS2J3QRS2_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
122Annotation score:
J3QLK4J3QLK4_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
148Annotation score:
J3QQT1J3QQT1_HUMAN
Zinc phosphodiesterase ELAC protein...
ELAC2
45Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti165V → M in AK001392 (PubMed:14702039).Curated1
Sequence conflicti406Missing in AK001392 (PubMed:14702039).Curated1
Sequence conflicti592H → Y in AK001392 (PubMed:14702039).Curated1
Sequence conflicti754F → L in AK001392 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03821052S → F. Corresponds to variant dbSNP:rs9895963EnsemblClinVar.1
Natural variantiVAR_070844154F → L in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515465EnsemblClinVar.1
Natural variantiVAR_017425211R → Q in HPC2. 1 PublicationCorresponds to variant dbSNP:rs148419785Ensembl.1
Natural variantiVAR_017426217S → L in HPC2; does not affect the enzymatic activity. 10 PublicationsCorresponds to variant dbSNP:rs4792311EnsemblClinVar.1
Natural variantiVAR_070845423L → F in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515466EnsemblClinVar.1
Natural variantiVAR_038211436D → N. Corresponds to variant dbSNP:rs3760317Ensembl.1
Natural variantiVAR_017427487G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs752234492Ensembl.1
Natural variantiVAR_070846520T → I in COXPD17. 1 PublicationCorresponds to variant dbSNP:rs397515463EnsemblClinVar.1
Natural variantiVAR_017428541A → T in HPC2; does not affect the enzymatic activity. 7 PublicationsCorresponds to variant dbSNP:rs5030739EnsemblClinVar.1
Natural variantiVAR_017429622E → V in HPC2; higher frequency in prostate cancer cases. 1 PublicationCorresponds to variant dbSNP:rs119484087EnsemblClinVar.1
Natural variantiVAR_017430627S → L1 PublicationCorresponds to variant dbSNP:rs78105154Ensembl.1
Natural variantiVAR_017431781R → H in HPC2; does not affect the enzymatic activity. 2 PublicationsCorresponds to variant dbSNP:rs119484086EnsemblClinVar.1
Natural variantiVAR_017432806G → R in HPC2. 1 PublicationCorresponds to variant dbSNP:rs770669443Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0091681 – 372Missing in isoform 3. 1 PublicationAdd BLAST372
Alternative sequenceiVSP_0091691 – 94Missing in isoform 2. 1 PublicationAdd BLAST94
Alternative sequenceiVSP_043449188 – 227Missing in isoform 4. 1 PublicationAdd BLAST40
Alternative sequenceiVSP_009170373 – 406NCASV…SFRCK → MRTVPQFTTFAATRFKPSST SSTRTSSPCSPVSA in isoform 3. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_009171554 – 595GLPSI…YHNQC → VSVGLDHKAGAWRRHCHVEL ALWLRLFLRFQTCPELLLLI SG in isoform 2. 1 PublicationAdd BLAST42
Alternative sequenceiVSP_009172596 – 826Missing in isoform 2. 1 PublicationAdd BLAST231

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF304369 Genomic DNA Translation: AAG24440.1
AF304370 mRNA Translation: AAG24441.1
AK001392 mRNA No translation available.
AK124838 mRNA Translation: BAC85964.1
AK125030 mRNA Translation: BAC86026.1
AK298397 mRNA Translation: BAG60631.1
CR457261 mRNA Translation: CAG33542.1
AC005277 Genomic DNA No translation available.
BC001939 mRNA Translation: AAH01939.1
BC004158 mRNA Translation: AAH04158.1
CCDSiCCDS11164.1 [Q9BQ52-1]
CCDS54093.1 [Q9BQ52-4]
RefSeqiNP_001159434.1, NM_001165962.1 [Q9BQ52-4]
NP_060597.4, NM_018127.6 [Q9BQ52-1]
NP_776065.1, NM_173717.1
UniGeneiHs.434232

Genome annotation databases

EnsembliENST00000338034; ENSP00000337445; ENSG00000006744 [Q9BQ52-1]
ENST00000426905; ENSP00000405223; ENSG00000006744 [Q9BQ52-4]
GeneIDi60528
KEGGihsa:60528
UCSCiuc002gnz.5 human [Q9BQ52-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF304369 Genomic DNA Translation: AAG24440.1
AF304370 mRNA Translation: AAG24441.1
AK001392 mRNA No translation available.
AK124838 mRNA Translation: BAC85964.1
AK125030 mRNA Translation: BAC86026.1
AK298397 mRNA Translation: BAG60631.1
CR457261 mRNA Translation: CAG33542.1
AC005277 Genomic DNA No translation available.
BC001939 mRNA Translation: AAH01939.1
BC004158 mRNA Translation: AAH04158.1
CCDSiCCDS11164.1 [Q9BQ52-1]
CCDS54093.1 [Q9BQ52-4]
RefSeqiNP_001159434.1, NM_001165962.1 [Q9BQ52-4]
NP_060597.4, NM_018127.6 [Q9BQ52-1]
NP_776065.1, NM_173717.1
UniGeneiHs.434232

3D structure databases

ProteinModelPortaliQ9BQ52
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121937, 52 interactors
IntActiQ9BQ52, 15 interactors
STRINGi9606.ENSP00000337445

PTM databases

iPTMnetiQ9BQ52
PhosphoSitePlusiQ9BQ52
SwissPalmiQ9BQ52

Polymorphism and mutation databases

BioMutaiELAC2
DMDMi41017788

Proteomic databases

EPDiQ9BQ52
MaxQBiQ9BQ52
PaxDbiQ9BQ52
PeptideAtlasiQ9BQ52
PRIDEiQ9BQ52
ProteomicsDBi78627
78628 [Q9BQ52-2]
78629 [Q9BQ52-3]
78630 [Q9BQ52-4]

Protocols and materials databases

DNASUi60528
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000338034; ENSP00000337445; ENSG00000006744 [Q9BQ52-1]
ENST00000426905; ENSP00000405223; ENSG00000006744 [Q9BQ52-4]
GeneIDi60528
KEGGihsa:60528
UCSCiuc002gnz.5 human [Q9BQ52-1]

Organism-specific databases

CTDi60528
DisGeNETi60528
EuPathDBiHostDB:ENSG00000006744.18
GeneCardsiELAC2
HGNCiHGNC:14198 ELAC2
HPAiHPA019535
MalaCardsiELAC2
MIMi176807 phenotype
605367 gene
614731 phenotype
615440 phenotype
neXtProtiNX_Q9BQ52
OpenTargetsiENSG00000006744
Orphaneti369913 Combined oxidative phosphorylation defect type 17
1331 Familial prostate cancer
PharmGKBiPA27739
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2121 Eukaryota
COG1234 LUCA
GeneTreeiENSGT00730000111191
HOGENOMiHOG000007499
HOVERGENiHBG050042
InParanoidiQ9BQ52
KOiK00784
OMAiYICQLKP
OrthoDBiEOG091G028A
PhylomeDBiQ9BQ52
TreeFamiTF105797

Enzyme and pathway databases

BRENDAi3.1.26.11 2681
ReactomeiR-HSA-6784531 tRNA processing in the nucleus
R-HSA-6785470 tRNA processing in the mitochondrion
R-HSA-8868766 rRNA processing in the mitochondrion

Miscellaneous databases

ChiTaRSiELAC2 human
GeneWikiiELAC2
GenomeRNAii60528
PROiPR:Q9BQ52
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000006744 Expressed in 229 organ(s), highest expression level in lower esophagus muscularis layer
CleanExiHS_ELAC2
ExpressionAtlasiQ9BQ52 baseline and differential
GenevisibleiQ9BQ52 HS

Family and domain databases

Gene3Di3.60.15.10, 1 hit
InterProiView protein in InterPro
IPR001279 Metallo-B-lactamas
IPR036866 RibonucZ/Hydroxyglut_hydro
IPR027794 tRNase_Z_dom
PfamiView protein in Pfam
PF12706 Lactamase_B_2, 1 hit
PF13691 Lactamase_B_4, 1 hit
SUPFAMiSSF56281 SSF56281, 3 hits
ProtoNetiSearch...

Entry informationi

Entry nameiRNZ2_HUMAN
AccessioniPrimary (citable) accession number: Q9BQ52
Secondary accession number(s): B4DPL9
, Q6IA94, Q9HAS8, Q9HAS9, Q9NVT1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: January 16, 2004
Last modified: September 12, 2018
This is version 163 of the entry and version 2 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again