UniProtKB - Q86W50 (MET16_HUMAN)
Protein
RNA N6-adenosine-methyltransferase METTL16
Gene
METTL16
Organism
Homo sapiens (Human)
Status
Functioni
RNA N6-methyltransferase that methylates adenosine residues at the N6 position of a subset of RNAs and is involved in S-adenosyl-L-methionine homeostasis by regulating expression of MAT2A transcripts (PubMed:28525753, PubMed:30197299, PubMed:30197297). Able to N6-methylate a subset of mRNAs and U6 small nuclear RNAs (U6 snRNAs) (PubMed:28525753). In contrast to the METTL3-METTL14 heterodimer, only able to methylate a limited number of RNAs: requires both a 5'UACAGAGAA-3' nonamer sequence and a specific RNA structure (PubMed:28525753, PubMed:30197299, PubMed:30197297). Plays a key role in S-adenosyl-L-methionine homeostasis by mediating N6-methylation of MAT2A mRNAs, altering splicing and/or stability of MAT2A transcripts: in presence of S-adenosyl-L-methionine, binds the 3'-UTR region of MAT2A mRNA and specifically N6-methylates the first hairpin of MAT2A mRNA, impairing MAT2A expression (PubMed:28525753). In S-adenosyl-L-methionine-limiting conditions, binds the 3'-UTR region of MAT2A mRNA but stalls due to the lack of a methyl donor, preventing N6-methylation and promoting expression of MAT2A (PubMed:28525753). In addition to mRNAs, also able to mediate N6-methylation of U6 small nuclear RNA (U6 snRNA): specifically N6-methylates adenine in position 43 of U6 snRNAs (PubMed:28525753, PubMed:29051200, PubMed:32266935). Also able to bind various lncRNAs, such as 7SK snRNA (7SK RNA) or 7SL RNA (PubMed:29051200). Specifically binds the 3'-end of the MALAT1 long non-coding RNA (PubMed:27872311).6 Publications
Caution
Consequences of N6-methylation of MAT2A transcripts are subject to discussion. According to a report, N6-methylation of MAT2A affects MAT2A mRNA splicing: in presence of S-adenosyl-L-methionine, METTL16 binds the 3'-UTR region of MAT2A mRNA and specifically N6-methylates the first hairpin of MAT2A mRNA, leading to intron retention and preventing MAT2A mRNA splicing (PubMed:28525753). In S-adenosyl-L-methionine-limiting conditions, METTL16 binds the 3'-UTR region of MAT2A mRNA but stalls due to the lack of a methyl donor, leading to stimulate splicing of the MAT2A retained intron, and promoting expression of MAT2A (PubMed:28525753). According to a second report, N6-methylation of MAT2A affects MAT2A mRNA stability instead: in presence of S-adenosyl-L-methionine, METTL16 N6-methylates MAT2A mRNA, leading to destabilization and subsequent degradation of MAT2A mRNA (By similarity). Under low S-adenosyl-L-methionine-limiting condition MAT2A mRNA is not methylated, stabilizing it (By similarity).By similarity1 Publication
Stoichiometry of the protein is unclear. According to two reports, the methyltransferase acts as a monomer (PubMed:30197299, PubMed:30197297). According to a another paper, it acts as a homodimer (PubMed:29593291).3 Publications
Catalytic activityi
- adenosine in U6 snRNA + S-adenosyl-L-methionine = H+ + N6-methyladenosine in U6 snRNA + S-adenosyl-L-homocysteine3 PublicationsEC:2.1.1.3463 Publications
- adenosine in mRNA + S-adenosyl-L-methionine = H+ + N6-methyladenosine in mRNA + S-adenosyl-L-homocysteine3 PublicationsEC:2.1.1.3483 Publications
Activity regulationi
Methyltransferase activity is autoinhibited by the K-loop region that blocks S-adenosyl-L-methionine-binding (PubMed:30197297). Upon activation, K-loop changes conformation, allowing S-adenosyl-L-methionine-binding and subsequent methyltransferase activity (PubMed:30197297).1 Publication
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 82 | S-adenosyl-L-methionineCombined sources3 Publications | 1 | |
Binding sitei | 110 | S-adenosyl-L-methionine; via carbonyl oxygenCombined sources2 Publications | 1 | |
Binding sitei | 114 | S-adenosyl-L-methionineCombined sources1 Publication | 1 | |
Binding sitei | 133 | S-adenosyl-L-methionineCombined sources3 Publications | 1 | |
Binding sitei | 164 | S-adenosyl-L-methionineCombined sources3 Publications | 1 | |
Binding sitei | 184 | S-adenosyl-L-methionineCombined sources2 Publications | 1 |
GO - Molecular functioni
- 23S rRNA (adenine(1618)-N(6))-methyltransferase activity Source: GO_Central
- mRNA (N6-adenosine)-methyltransferase activity Source: UniProtKB
- RNA binding Source: UniProtKB
- RNA stem-loop binding Source: UniProtKB
- U6 snRNA (adenine-(43)-N(6))-methyltransferase activity Source: UniProtKB
- U6 snRNA 3'-end binding Source: UniProtKB
GO - Biological processi
- mRNA catabolic process Source: UniProtKB
- mRNA destabilization Source: UniProtKB
- mRNA methylation Source: UniProtKB
- negative regulation of 3'-UTR-mediated mRNA stabilization Source: UniProtKB
- posttranscriptional regulation of gene expression Source: UniProtKB
- regulation of mRNA splicing, via spliceosome Source: UniProtKB
- rRNA base methylation Source: GO_Central
- S-adenosylmethionine biosynthetic process Source: UniProtKB
- snRNA (adenine-N6)-methylation Source: UniProtKB
Keywordsi
Molecular function | Methyltransferase, RNA-binding, Transferase |
Ligand | S-adenosyl-L-methionine |
Enzyme and pathway databases
PathwayCommonsi | Q86W50 |
Names & Taxonomyi
Protein namesi | Recommended name: RNA N6-adenosine-methyltransferase METTL16CuratedAlternative name(s): |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000127804.12 |
HGNCi | HGNC:28484, METTL16 |
neXtProti | NX_Q86W50 |
Pathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 5 – 16 | KSMHA…RYKDK → ASMHAANAYADA: Abolished methyltransferase activity. 1 PublicationAdd BLAST | 12 | |
Mutagenesisi | 5 | K → A: Does not affect methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 5 | K → E: Reduced methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 10 | R → A: Does not affect methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 10 | R → D or E: Reduced methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 12 | R → A: Does not affect methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 14 | K → A: Does not affect methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 16 | K → A: Does not affect methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 26 | K → A: Does not affect methyltransferase activity; when associated with A-31. 1 Publication | 1 | |
Mutagenesisi | 31 | K → A: Does not affect methyltransferase activity; when associated with A-26. 1 Publication | 1 | |
Mutagenesisi | 39 | N → A: Does not affect methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 47 | K → E: Reduced methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 82 | R → A or E: Abolished methyltransferase activity in vitro. 2 Publications | 1 | |
Mutagenesisi | 133 | E → A: Abolished methyltransferase activity in vitro. 1 Publication | 1 | |
Mutagenesisi | 163 | K → A: Increased methyltransferase activity in vitro. 1 Publication | 1 | |
Mutagenesisi | 167 | M → A: Increased methyltransferase activity in vitro. 1 Publication | 1 | |
Mutagenesisi | 184 | N → A: Abolished methyltransferase activity in vitro. 1 Publication | 1 | |
Mutagenesisi | 185 – 186 | PP → AA: Abolishes methyltransferase activity. 2 Publications | 2 | |
Mutagenesisi | 187 | F → G: Abolishes methyltransferase activity. 2 Publications | 1 | |
Mutagenesisi | 200 – 204 | RNPRR → ENPEE: Abolished methyltransferase activity. 1 Publication | 5 | |
Mutagenesisi | 202 – 207 | PRRPPP → ARRAAA: Does not affect methyltransferase activity. 1 Publication | 6 | |
Mutagenesisi | 279 | R → E: Abolished methyltransferase activity. 1 Publication | 1 | |
Mutagenesisi | 282 | R → E: Abolished methyltransferase activity. 1 Publication | 1 |
Organism-specific databases
DisGeNETi | 79066 |
OpenTargetsi | ENSG00000127804 |
PharmGKBi | PA142671460 |
Miscellaneous databases
Pharosi | Q86W50, Tbio |
Polymorphism and mutation databases
BioMutai | METTL16 |
DMDMi | 269849619 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000310767 | 1 – 562 | RNA N6-adenosine-methyltransferase METTL16Add BLAST | 562 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 329 | PhosphoserineCombined sources | 1 | |
Modified residuei | 463 | PhosphothreonineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q86W50 |
jPOSTi | Q86W50 |
MassIVEi | Q86W50 |
MaxQBi | Q86W50 |
PaxDbi | Q86W50 |
PeptideAtlasi | Q86W50 |
PRIDEi | Q86W50 |
ProteomicsDBi | 70116 [Q86W50-1] 70117 [Q86W50-2] |
PTM databases
iPTMneti | Q86W50 |
PhosphoSitePlusi | Q86W50 |
Expressioni
Gene expression databases
Bgeei | ENSG00000127804, Expressed in calcaneal tendon and 229 other tissues |
ExpressionAtlasi | Q86W50, baseline and differential |
Genevisiblei | Q86W50, HS |
Organism-specific databases
HPAi | ENSG00000127804, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 122519, 19 interactors |
IntActi | Q86W50, 4 interactors |
STRINGi | 9606.ENSP00000263092 |
Miscellaneous databases
RNActi | Q86W50, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q86W50 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q86W50 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 17 – 20 | RNA-bindingCombined sources1 Publication | 4 | |
Regioni | 163 – 167 | K-loop1 Publication | 5 | |
Regioni | 199 – 211 | RNA-bindingCombined sources1 PublicationAdd BLAST | 13 | |
Regioni | 250 – 254 | RNA-bindingCombined sources1 Publication | 5 | |
Regioni | 277 – 283 | RNA-bindingCombined sources1 Publication | 7 | |
Regioni | 289 – 400 | VCR 11 PublicationAdd BLAST | 112 | |
Regioni | 514 – 562 | VCR 21 PublicationAdd BLAST | 49 |
Domaini
The VCR (vertebrate conserved) regions bind the first hairpin of MAT2A mRNAs (PubMed:28525753). The VCR regions interact with the internal stem-loop within U6 snRNAs, inducing the conformational rearrangement of the A43-containing region of U6 snRNA, thereby modifying the RNA structure to become suitable for productive catalysis by the methyltransferase region (PubMed:32266935).2 Publications
The K-loop region occludes the S-adenosyl-L-methionine-binding pocket (PubMed:30197297). Upon activation, conformation of the K-loop changes, allowing S-adenosyl-L-methionine-binding (PubMed:30197297).1 Publication
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2912, Eukaryota |
GeneTreei | ENSGT00390000016694 |
HOGENOMi | CLU_027534_0_0_1 |
InParanoidi | Q86W50 |
OMAi | VVVEMHW |
OrthoDBi | 1358504at2759 |
PhylomeDBi | Q86W50 |
TreeFami | TF313132 |
Family and domain databases
InterProi | View protein in InterPro IPR017182, METTL16/PsiM IPR010286, METTL16/RlmF IPR029063, SAM-dependent_MTases |
PANTHERi | PTHR13393, PTHR13393, 1 hit |
Pfami | View protein in Pfam PF05971, Methyltransf_10, 1 hit |
PIRSFi | PIRSF037350, Mtase_ZK1128_prd, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q86W50-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALSKSMHAR NRYKDKPPDF AYLASKYPDF KQHVQINLNG RVSLNFKDPE
60 70 80 90 100
AVRALTCTLL REDFGLSIDI PLERLIPTVP LRLNYIHWVE DLIGHQDSDK
110 120 130 140 150
STLRRGIDIG TGASCIYPLL GATLNGWYFL ATEVDDMCFN YAKKNVEQNN
160 170 180 190 200
LSDLIKVVKV PQKTLLMDAL KEESEIIYDF CMCNPPFFAN QLEAKGVNSR
210 220 230 240 250
NPRRPPPSSV NTGGITEIMA EGGELEFVKR IIHDSLQLKK RLRWYSCMLG
260 270 280 290 300
KKCSLAPLKE ELRIQGVPKV TYTEFCQGRT MRWALAWSFY DDVTVPSPPS
310 320 330 340 350
KRRKLEKPRK PITFVVLASV MKELSLKASP LRSETAEGIV VVTTWIEKIL
360 370 380 390 400
TDLKVQHKRV PCGKEEVSLF LTAIENSWIH LRRKKRERVR QLREVPRAPE
410 420 430 440 450
DVIQALEEKK PTPKESGNSQ ELARGPQERT PCGPALREGE AAAVEGPCPS
460 470 480 490 500
QESLSQEENP EPTEDERSEE KGGVEVLESC QGSSNGAQDQ EASEQFGSPV
510 520 530 540 550
AERGKRLPGV AGQYLFKCLI NVKKEVDDAL VEMHWVEGQN RDLMNQLCTY
560
IRNQIFRLVA VN
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketI3L362 | I3L362_HUMAN | RNA N6-adenosine-methyltransferase ... | METTL16 | 168 | Annotation score: | ||
I3L4V1 | I3L4V1_HUMAN | RNA N6-adenosine-methyltransferase ... | METTL16 | 148 | Annotation score: | ||
I3L3W3 | I3L3W3_HUMAN | RNA N6-adenosine-methyltransferase ... | METTL16 | 121 | Annotation score: | ||
K7EKQ8 | K7EKQ8_HUMAN | RNA N6-adenosine-methyltransferase ... | METTL16 | 101 | Annotation score: |
Sequence cautioni
The sequence BAB55094 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
The sequence CAD89999 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 39 | N → D in BAB55094 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 214 | G → A in CAD89999 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 419 | S → R in BAB55094 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081134 | 110 | G → C Found in patients with large intestine cancer; abolished methyltransferase activity. 1 Publication | 1 | |
Natural variantiVAR_037086 | 479 | S → N1 PublicationCorresponds to variant dbSNP:rs17834783Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_029340 | 214 – 224 | GITEIMAEGGE → DSLEPGRWRLQ in isoform 2. 1 PublicationAdd BLAST | 11 | |
Alternative sequenceiVSP_029341 | 225 – 562 | Missing in isoform 2. 1 PublicationAdd BLAST | 338 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027410 mRNA Translation: BAB55094.1 Sequence problems. AL832612 mRNA Translation: CAD89999.2 Frameshift. AC006435 Genomic DNA No translation available. AC015799 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW90537.1 CH471108 Genomic DNA Translation: EAW90538.1 BC001213 mRNA Translation: AAH01213.1 BC050603 mRNA Translation: AAH50603.1 |
CCDSi | CCDS42232.1 [Q86W50-1] |
RefSeqi | NP_076991.3, NM_024086.3 [Q86W50-1] |
Genome annotation databases
Ensembli | ENST00000263092; ENSP00000263092; ENSG00000127804 [Q86W50-1] |
GeneIDi | 79066 |
KEGGi | hsa:79066 |
UCSCi | uc002fut.4, human [Q86W50-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027410 mRNA Translation: BAB55094.1 Sequence problems. AL832612 mRNA Translation: CAD89999.2 Frameshift. AC006435 Genomic DNA No translation available. AC015799 Genomic DNA No translation available. CH471108 Genomic DNA Translation: EAW90537.1 CH471108 Genomic DNA Translation: EAW90538.1 BC001213 mRNA Translation: AAH01213.1 BC050603 mRNA Translation: AAH50603.1 |
CCDSi | CCDS42232.1 [Q86W50-1] |
RefSeqi | NP_076991.3, NM_024086.3 [Q86W50-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2H00 | X-ray | 2.00 | A/B/C | 40-291 | [»] | |
6B91 | X-ray | 1.94 | A | 1-291 | [»] | |
6B92 | X-ray | 2.10 | A | 1-291 | [»] | |
6DU4 | X-ray | 1.70 | A | 1-310 | [»] | |
6DU5 | X-ray | 3.01 | A | 2-310 | [»] | |
6GFK | X-ray | 2.30 | A/B/C | 41-291 | [»] | |
6GFN | X-ray | 2.86 | A | 1-291 | [»] | |
6GT5 | X-ray | 2.45 | A/B | 1-291 | [»] | |
6M1U | X-ray | 2.79 | A | 310-562 | [»] | |
SMRi | Q86W50 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 122519, 19 interactors |
IntActi | Q86W50, 4 interactors |
STRINGi | 9606.ENSP00000263092 |
PTM databases
iPTMneti | Q86W50 |
PhosphoSitePlusi | Q86W50 |
Polymorphism and mutation databases
BioMutai | METTL16 |
DMDMi | 269849619 |
Proteomic databases
EPDi | Q86W50 |
jPOSTi | Q86W50 |
MassIVEi | Q86W50 |
MaxQBi | Q86W50 |
PaxDbi | Q86W50 |
PeptideAtlasi | Q86W50 |
PRIDEi | Q86W50 |
ProteomicsDBi | 70116 [Q86W50-1] 70117 [Q86W50-2] |
Protocols and materials databases
Antibodypediai | 5377, 246 antibodies |
Genome annotation databases
Ensembli | ENST00000263092; ENSP00000263092; ENSG00000127804 [Q86W50-1] |
GeneIDi | 79066 |
KEGGi | hsa:79066 |
UCSCi | uc002fut.4, human [Q86W50-1] |
Organism-specific databases
CTDi | 79066 |
DisGeNETi | 79066 |
EuPathDBi | HostDB:ENSG00000127804.12 |
GeneCardsi | METTL16 |
HGNCi | HGNC:28484, METTL16 |
HPAi | ENSG00000127804, Low tissue specificity |
neXtProti | NX_Q86W50 |
OpenTargetsi | ENSG00000127804 |
PharmGKBi | PA142671460 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2912, Eukaryota |
GeneTreei | ENSGT00390000016694 |
HOGENOMi | CLU_027534_0_0_1 |
InParanoidi | Q86W50 |
OMAi | VVVEMHW |
OrthoDBi | 1358504at2759 |
PhylomeDBi | Q86W50 |
TreeFami | TF313132 |
Enzyme and pathway databases
PathwayCommonsi | Q86W50 |
Miscellaneous databases
BioGRID-ORCSi | 79066, 644 hits in 843 CRISPR screens |
ChiTaRSi | METTL16, human |
EvolutionaryTracei | Q86W50 |
GenomeRNAii | 79066 |
Pharosi | Q86W50, Tbio |
PROi | PR:Q86W50 |
RNActi | Q86W50, protein |
Gene expression databases
Bgeei | ENSG00000127804, Expressed in calcaneal tendon and 229 other tissues |
ExpressionAtlasi | Q86W50, baseline and differential |
Genevisiblei | Q86W50, HS |
Family and domain databases
InterProi | View protein in InterPro IPR017182, METTL16/PsiM IPR010286, METTL16/RlmF IPR029063, SAM-dependent_MTases |
PANTHERi | PTHR13393, PTHR13393, 1 hit |
Pfami | View protein in Pfam PF05971, Methyltransf_10, 1 hit |
PIRSFi | PIRSF037350, Mtase_ZK1128_prd, 1 hit |
SUPFAMi | SSF53335, SSF53335, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MET16_HUMAN | |
Accessioni | Q86W50Primary (citable) accession number: Q86W50 Secondary accession number(s): D3DTI8 Q9BVG7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 13, 2007 |
Last sequence update: | November 24, 2009 | |
Last modified: | December 2, 2020 | |
This is version 130 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
3D-structure, Reference proteomeDocuments
- Uncharacterized protein families (UPF)
List of uncharacterized protein family (UPF) entries - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations