UniProtKB - Q7Z3B3 (KANL1_HUMAN)
KAT8 regulatory NSL complex subunit 1
KANSL1
Functioni
GO - Molecular functioni
- histone acetyltransferase binding Source: GO_Central
GO - Biological processi
- histone H4-K16 acetylation Source: UniProtKB
- histone H4-K5 acetylation Source: UniProtKB
- histone H4-K8 acetylation Source: UniProtKB
Keywordsi
Molecular function | Chromatin regulator |
Enzyme and pathway databases
PathwayCommonsi | Q7Z3B3 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
Names & Taxonomyi
Protein namesi | Recommended name: KAT8 regulatory NSL complex subunit 1Alternative name(s): MLL1/MLL complex subunit KANSL1 MSL1 homolog 1 Short name: hMSL1v1 NSL complex protein NSL1 Non-specific lethal 1 homolog |
Gene namesi | Name:KANSL1 Synonyms:CENP-36, KIAA1267, MSL1V1, NSL1 |
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
HGNCi | HGNC:24565, KANSL1 |
MIMi | 612452, gene |
neXtProti | NX_Q7Z3B3 |
VEuPathDBi | HostDB:ENSG00000120071.12 |
Subcellular locationi
Nucleus
Other locations
- kinetochore 1 Publication
Nucleus
- histone acetyltransferase complex Source: UniProtKB
- MLL1 complex Source: UniProtKB
- NSL complex Source: GO_Central
- nucleoplasm Source: HPA
- nucleus Source: LIFEdb
Other locations
- condensed chromosome kinetochore Source: UniProtKB-SubCell
Keywords - Cellular componenti
Centromere, Chromosome, Kinetochore, NucleusPathology & Biotechi
Involvement in diseasei
Koolen-De Vries syndrome (KDVS)3 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081891 | 306 – 1105 | Missing in KDVS. 1 PublicationAdd BLAST | 800 | |
Natural variantiVAR_081892 | 348 – 1105 | Missing in KDVS. 1 PublicationAdd BLAST | 758 | |
Natural variantiVAR_081893 | 606 – 1105 | Missing in KDVS. 1 PublicationAdd BLAST | 500 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 852 – 855 | RRRR → AAAA: Abolishes KAT8 histone acetyltransferase activity. 1 Publication | 4 | |
Mutagenesisi | 856 – 859 | GESS → AAAA: Strongly reduces KAT8 histone acetyltransferase activity. 1 Publication | 4 | |
Mutagenesisi | 860 – 863 | FDIN → AAAA: Strongly reduces KAT8 histone acetyltransferase activity. 1 Publication | 4 | |
Mutagenesisi | 864 – 867 | NIVI → AAAA: Abolishes KAT8 histone acetyltransferase activity. 1 Publication | 4 | |
Mutagenesisi | 868 – 871 | PMSV → AAAA: Reduces KAT8 histone acetyltransferase activity. 1 Publication | 4 | |
Mutagenesisi | 910 | E → R: Abolishes interaction with KAT8. 1 Publication | 1 | |
Mutagenesisi | 917 | F → R: No effect on interaction with KAT8. 1 Publication | 1 | |
Mutagenesisi | 921 | H → R: Abolishes interaction with KAT8. 1 Publication | 1 |
Keywords - Diseasei
Disease variant, Mental retardationOrganism-specific databases
DisGeNETi | 284058 |
GeneReviewsi | KANSL1 |
MalaCardsi | KANSL1 |
MIMi | 610443, phenotype |
Orphaneti | 363958, 17q21.31 microdeletion syndrome 363965, Koolen-De Vries syndrome due to a point mutation |
PharmGKBi | PA142671604 |
Miscellaneous databases
Pharosi | Q7Z3B3, Tbio |
Genetic variation databases
BioMutai | KANSL1 |
DMDMi | 334302834 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000234565 | 1 – 1105 | KAT8 regulatory NSL complex subunit 1Add BLAST | 1105 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 104 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 249 | PhosphoserineCombined sources | 1 | |
Cross-linki | 262 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 268 | PhosphoserineCombined sources | 1 | |
Cross-linki | 331 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 991 | PhosphoserineCombined sources | 1 | |
Modified residuei | 994 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1003 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1045 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q7Z3B3 |
jPOSTi | Q7Z3B3 |
MassIVEi | Q7Z3B3 |
MaxQBi | Q7Z3B3 |
PaxDbi | Q7Z3B3 |
PeptideAtlasi | Q7Z3B3 |
PRIDEi | Q7Z3B3 |
ProteomicsDBi | 3665 47521 69022 [Q7Z3B3-1] 69023 [Q7Z3B3-2] |
PTM databases
iPTMneti | Q7Z3B3 |
PhosphoSitePlusi | Q7Z3B3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000120071, Expressed in corpus callosum and 225 other tissues |
ExpressionAtlasi | Q7Z3B3, baseline and differential |
Genevisiblei | Q7Z3B3, HS |
Organism-specific databases
HPAi | ENSG00000120071, Low tissue specificity |
Interactioni
Subunit structurei
Component of some MLL1/MLL complex, at least composed of the core components KMT2A/MLL1, ASH2L, HCFC1, WDR5 and RBBP5, as well as the facultative components BAP18, CHD8, E2F6, HSP70, INO80C, KANSL1, LAS1L, MAX, MCRS1, MGA, KAT8/MOF, PELP1, PHF20, PRP31, RING2, RUVB1/TIP49A, RUVB2/TIP49B, SENP3, TAF1, TAF4, TAF6, TAF7, TAF9 and TEX10.
Component of the NSL complex at least composed of MOF/KAT8, KANSL1, KANSL2, KANSL3, MCRS1, PHF20, OGT1/OGT, WDR5 and HCFC1.
Interacts with KAT8; the interaction is direct.
7 PublicationsBinary interactionsi
Hide detailsQ7Z3B3
GO - Molecular functioni
- histone acetyltransferase binding Source: GO_Central
Protein-protein interaction databases
BioGRIDi | 129744, 54 interactors |
ComplexPortali | CPX-809, NSL histone acetyltransferase complex |
CORUMi | Q7Z3B3 |
ELMi | Q7Z3B3 |
IntActi | Q7Z3B3, 46 interactors |
MINTi | Q7Z3B3 |
STRINGi | 9606.ENSP00000262419 |
Miscellaneous databases
RNActi | Q7Z3B3, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q7Z3B3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 850 – 882 | Required for activation of KAT8 histone acetyltransferase activityAdd BLAST | 33 | |
Regioni | 883 – 1105 | Sufficient for interaction with KAT8Add BLAST | 223 |
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 283 – 314 | Sequence analysisAdd BLAST | 32 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QYK7, Eukaryota |
InParanoidi | Q7Z3B3 |
OrthoDBi | 191128at2759 |
PhylomeDBi | Q7Z3B3 |
TreeFami | TF336511 |
Family and domain databases
InterProi | View protein in InterPro IPR026180, NSL1 IPR029332, PEHE_dom |
PANTHERi | PTHR22443, PTHR22443, 1 hit |
Pfami | View protein in Pfam PF15275, PEHE, 1 hit |
SMARTi | View protein in SMART SM01300, PEHE, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 16 potential isoforms that are computationally mapped.Show allAlign All
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
MAAMAPALTD AAAEAHHIRF KLAPPSSTLS PGSAENNGNA NILIAANGTK
60 70 80 90 100
RKAIAAEDPS LDFRNNPTKE DLGKLQPLVA SYLCSDVTSV PSKESLKLQG
110 120 130 140 150
VFSKQTVLKS HPLLSQSYEL RAELLGRQPV LEFSLENLRT MNTSGQTALP
160 170 180 190 200
QAPVNGLAKK LTKSSTHSDH DNSTSLNGGK RALTSSALHG GEMGGSESGD
210 220 230 240 250
LKGGMTNCTL PHRSLDVEHT TLYSNNSTAN KSSVNSMEQP ALQGSSRLSP
260 270 280 290 300
GTDSSSNLGG VKLEGKKSPL SSILFSALDS DTRITALLRR QADIESRARR
310 320 330 340 350
LQKRLQVVQA KQVERHIQHQ LGGFLEKTLS KLPNLESLRP RSQLMLTRKA
360 370 380 390 400
EAALRKAASE TTTSEGLSNF LKSNSISEEL ERFTASGIAN LRCSEQAFDS
410 420 430 440 450
DVTDSSSGGE SDIEEEELTR ADPEQRHVPL RRRSEWKWAA DRAAIVSRWN
460 470 480 490 500
WLQAHVSDLE YRIRQQTDIY KQIRANKGLI VLGEVPPPEH TTDLFLPLSS
510 520 530 540 550
EVKTDHGTDK LIESVSQPLE NHGARIIGHI SESLSTKSCG ALRPVNGVIN
560 570 580 590 600
TLQPVLADHI PGDSSDAEEQ LHKKQRLNLV SSSSDGTCVA ARTRPVLSCK
610 620 630 640 650
KRRLVRPNSI VPLSKKVHRN STIRPGCDVN PSCALCGSGS INTMPPEIHY
660 670 680 690 700
EAPLLERLSQ LDSCVHPVLA FPDDVPTSLH FQSMLKSQWQ NKPFDKIKPP
710 720 730 740 750
KKLSLKHRAP MPGSLPDSAR KDRHKLVSSF LTTAKLSHHQ TRPDRTHRQH
760 770 780 790 800
LDDVGAVPMV ERVTAPKAER LLNPPPPVHD PNHSKMRLRD HSSERSEVLK
810 820 830 840 850
HHTDMSSSSY LAATHHPPHS PLVRQLSTSS DSPAPASSSS QVTASTSQQP
860 870 880 890 900
VRRRRGESSF DINNIVIPMS VAATTRVEKL QYKEILTPSW REVDLQSLKG
910 920 930 940 950
SPDEENEEIE DLSDAAFAAL HAKCEEMERA RWLWTTSVPP QRRGSRSYRS
960 970 980 990 1000
SDGRTTPQLG SANPSTPQPA SPDVSSSHSL SEYSHGQSPR SPISPELHSA
1010 1020 1030 1040 1050
PLTPVARDTP RHLASEDTRC STPELGLDEQ SVQPWERRTF PLAHSPQAEC
1060 1070 1080 1090 1100
EDQLDAQERA ARCTRRTSGS KTGRETEAAP TSPPIVPLKS RHLVAAATAQ
RPTHR
Computationally mapped potential isoform sequencesi
There are 16 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A1W2PRB5 | A0A1W2PRB5_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 1,041 | Annotation score: | ||
I3L233 | I3L233_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 678 | Annotation score: | ||
A0A1W2PPV8 | A0A1W2PPV8_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 897 | Annotation score: | ||
A0A3B3IT55 | A0A3B3IT55_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 1,061 | Annotation score: | ||
A0A1W2PRR3 | A0A1W2PRR3_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 475 | Annotation score: | ||
A0A0G2JNB1 | A0A0G2JNB1_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 1,104 | Annotation score: | ||
A0A0G2JQF5 | A0A0G2JQF5_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 1,041 | Annotation score: | ||
A0A0J9YVS1 | A0A0J9YVS1_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 1,041 | Annotation score: | ||
A0A0G2JNT7 | A0A0G2JNT7_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 1,105 | Annotation score: | ||
A0A0G2JQF4 | A0A0G2JQF4_HUMAN | KAT8 regulatory NSL complex subunit... | KANSL1 | 1,105 | Annotation score: | ||
There are more potential isoformsShow all |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 525 | R → P in KF495991 (PubMed:16625196).Curated | 1 | |
Sequence conflicti | 530 | I → F in CAB70694 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 683 | S → G in CAH10565 (PubMed:17974005).Curated | 1 | |
Sequence conflicti | 849 | Missing in BAF83948 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 849 | Missing in KF495991 (PubMed:16625196).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_049515 | 104 | K → T. Corresponds to variant dbSNP:rs17585974EnsemblClinVar. | 1 | |
Natural variantiVAR_049516 | 221 | T → I. Corresponds to variant dbSNP:rs17662853Ensembl. | 1 | |
Natural variantiVAR_049517 | 225 | N → D. Corresponds to variant dbSNP:rs35643216EnsemblClinVar. | 1 | |
Natural variantiVAR_081891 | 306 – 1105 | Missing in KDVS. 1 PublicationAdd BLAST | 800 | |
Natural variantiVAR_081892 | 348 – 1105 | Missing in KDVS. 1 PublicationAdd BLAST | 758 | |
Natural variantiVAR_081893 | 606 – 1105 | Missing in KDVS. 1 PublicationAdd BLAST | 500 | |
Natural variantiVAR_049518 | 718 | S → P1 PublicationCorresponds to variant dbSNP:rs34043286EnsemblClinVar. | 1 | |
Natural variantiVAR_026287 | 1010 | P → L4 PublicationsCorresponds to variant dbSNP:rs7220988EnsemblClinVar. | 1 | |
Natural variantiVAR_049519 | 1085 | I → T1 PublicationCorresponds to variant dbSNP:rs34579536EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_041132 | 1 – 669 | Missing in isoform 2 and isoform 3. 1 PublicationAdd BLAST | 669 | |
Alternative sequenceiVSP_041133 | 670 – 673 | AFPD → MFLA in isoform 2 and isoform 3. 1 Publication | 4 | |
Alternative sequenceiVSP_058944 | 735 – 798 | KLSHH…ERSEV → M in isoform 3. Add BLAST | 64 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB033093 mRNA Translation: BAA86581.1 AK094946 mRNA Translation: BAG52961.1 AK291259 mRNA Translation: BAF83948.1 AL117476 mRNA Translation: CAB55949.1 AL137317 mRNA Translation: CAB70694.1 BX538006 mRNA Translation: CAD97958.1 BX648760 mRNA Translation: CAH10565.1 Different initiation. AC217773 Genomic DNA No translation available. CR936218 Genomic DNA No translation available. KF495991 Genomic DNA No translation available. BC035892 mRNA Translation: AAH35892.1 BC098376 mRNA Translation: AAH98376.1 |
CCDSi | CCDS11503.2 [Q7Z3B3-1] |
PIRi | T17259 T46385 |
RefSeqi | NP_001180394.1, NM_001193465.1 NP_001180395.1, NM_001193466.1 NP_056258.1, NM_015443.3 XP_006721886.1, XM_006721823.1 XP_006721887.1, XM_006721824.3 |
Genome annotation databases
Ensembli | ENST00000262419; ENSP00000262419; ENSG00000120071 ENST00000432791; ENSP00000387393; ENSG00000120071 ENST00000572904; ENSP00000461484; ENSG00000120071 ENST00000574590; ENSP00000461812; ENSG00000120071 |
GeneIDi | 284058 |
KEGGi | hsa:284058 |
UCSCi | uc002ikc.4, human [Q7Z3B3-1] uc060gjw.1, human |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB033093 mRNA Translation: BAA86581.1 AK094946 mRNA Translation: BAG52961.1 AK291259 mRNA Translation: BAF83948.1 AL117476 mRNA Translation: CAB55949.1 AL137317 mRNA Translation: CAB70694.1 BX538006 mRNA Translation: CAD97958.1 BX648760 mRNA Translation: CAH10565.1 Different initiation. AC217773 Genomic DNA No translation available. CR936218 Genomic DNA No translation available. KF495991 Genomic DNA No translation available. BC035892 mRNA Translation: AAH35892.1 BC098376 mRNA Translation: AAH98376.1 |
CCDSi | CCDS11503.2 [Q7Z3B3-1] |
PIRi | T17259 T46385 |
RefSeqi | NP_001180394.1, NM_001193465.1 NP_001180395.1, NM_001193466.1 NP_056258.1, NM_015443.3 XP_006721886.1, XM_006721823.1 XP_006721887.1, XM_006721824.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4CY1 | X-ray | 1.50 | C/D | 585-598 | [»] | |
4CY2 | X-ray | 2.00 | D | 585-598 | [»] | |
SMRi | Q7Z3B3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 129744, 54 interactors |
ComplexPortali | CPX-809, NSL histone acetyltransferase complex |
CORUMi | Q7Z3B3 |
ELMi | Q7Z3B3 |
IntActi | Q7Z3B3, 46 interactors |
MINTi | Q7Z3B3 |
STRINGi | 9606.ENSP00000262419 |
PTM databases
iPTMneti | Q7Z3B3 |
PhosphoSitePlusi | Q7Z3B3 |
Genetic variation databases
BioMutai | KANSL1 |
DMDMi | 334302834 |
Proteomic databases
EPDi | Q7Z3B3 |
jPOSTi | Q7Z3B3 |
MassIVEi | Q7Z3B3 |
MaxQBi | Q7Z3B3 |
PaxDbi | Q7Z3B3 |
PeptideAtlasi | Q7Z3B3 |
PRIDEi | Q7Z3B3 |
ProteomicsDBi | 3665 47521 69022 [Q7Z3B3-1] 69023 [Q7Z3B3-2] |
Protocols and materials databases
Antibodypediai | 2016, 73 antibodies |
DNASUi | 284058 |
Genome annotation databases
Ensembli | ENST00000262419; ENSP00000262419; ENSG00000120071 ENST00000432791; ENSP00000387393; ENSG00000120071 ENST00000572904; ENSP00000461484; ENSG00000120071 ENST00000574590; ENSP00000461812; ENSG00000120071 |
GeneIDi | 284058 |
KEGGi | hsa:284058 |
UCSCi | uc002ikc.4, human [Q7Z3B3-1] uc060gjw.1, human |
Organism-specific databases
CTDi | 284058 |
DisGeNETi | 284058 |
GeneCardsi | KANSL1 |
GeneReviewsi | KANSL1 |
HGNCi | HGNC:24565, KANSL1 |
HPAi | ENSG00000120071, Low tissue specificity |
MalaCardsi | KANSL1 |
MIMi | 610443, phenotype 612452, gene |
neXtProti | NX_Q7Z3B3 |
Orphaneti | 363958, 17q21.31 microdeletion syndrome 363965, Koolen-De Vries syndrome due to a point mutation |
PharmGKBi | PA142671604 |
VEuPathDBi | HostDB:ENSG00000120071.12 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QYK7, Eukaryota |
InParanoidi | Q7Z3B3 |
OrthoDBi | 191128at2759 |
PhylomeDBi | Q7Z3B3 |
TreeFami | TF336511 |
Enzyme and pathway databases
PathwayCommonsi | Q7Z3B3 |
Reactomei | R-HSA-3214847, HATs acetylate histones |
Miscellaneous databases
BioGRID-ORCSi | 284058, 438 hits in 882 CRISPR screens |
ChiTaRSi | KANSL1, human |
GeneWikii | KIAA1267 |
GenomeRNAii | 284058 |
Pharosi | Q7Z3B3, Tbio |
PROi | PR:Q7Z3B3 |
RNActi | Q7Z3B3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000120071, Expressed in corpus callosum and 225 other tissues |
ExpressionAtlasi | Q7Z3B3, baseline and differential |
Genevisiblei | Q7Z3B3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026180, NSL1 IPR029332, PEHE_dom |
PANTHERi | PTHR22443, PTHR22443, 1 hit |
Pfami | View protein in Pfam PF15275, PEHE, 1 hit |
SMARTi | View protein in SMART SM01300, PEHE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | KANL1_HUMAN | |
Accessioni | Q7Z3B3Primary (citable) accession number: Q7Z3B3 Secondary accession number(s): A8K5E4 Q9ULF3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 16, 2006 |
Last sequence update: | May 31, 2011 | |
Last modified: | February 10, 2021 | |
This is version 148 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
- Human chromosome 17
Human chromosome 17: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references