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Protein

Nuclear receptor-interacting protein 1

Gene

NRIP1

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

Functioni

Modulates transcriptional activation by steroid receptors such as NR3C1, NR3C2 and ESR1. Also modulates transcriptional repression by nuclear hormone receptors. Positive regulator of the circadian clock gene expression: stimulates transcription of ARNTL/BMAL1, CLOCK and CRY1 by acting as a coactivator for RORA and RORC.7 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator
Biological processBiological rhythms, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-3899300 SUMOylation of transcription cofactors
R-HSA-400253 Circadian Clock
R-HSA-9018519 Estrogen-dependent gene expression
SignaLinkiP48552
SIGNORiP48552

Names & Taxonomyi

Protein namesi
Recommended name:
Nuclear receptor-interacting protein 1
Alternative name(s):
Nuclear factor RIP140
Receptor-interacting protein 140
Gene namesi
Name:NRIP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 21

Organism-specific databases

EuPathDBiHostDB:ENSG00000180530.9
HGNCiHGNC:8001 NRIP1
MIMi602490 gene
neXtProtiNX_P48552

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

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi440 – 443PIDL → AAAA: Abolishes interaction with CTBP1. 1 Publication4
Mutagenesisi440 – 442PID → AIA: Abolishes interaction with CTBP1 and attenuates nuclear hormone receptor-dependent transcription repression. 3
Mutagenesisi442 – 443DL → AA: Reduces, but does not completely abolish, interaction with CTBP. Reduces transcriptional repression. 2 Publications2
Mutagenesisi442 – 443DL → AS: Disrupts interaction with CTBP1, and CTBP2 to a lesser extent. Disrupts transcriptional repression; when associated with 567-AS-568. 2 Publications2
Mutagenesisi446K → Q: Disrupts interaction with CTBP1. Decreases lysine acetylation. Disrupts nuclear hormone receptor-dependent transcription repression. 1 Publication1
Mutagenesisi446K → R: Does not disrupt nuclear hormone receptor-dependent transcription repression. 1 Publication1
Mutagenesisi567 – 568NL → AA: Disrupts transcriptional repression. 2 Publications2
Mutagenesisi567 – 568NL → AS: Disrupts interaction with CTBP1 and CTBP2. Disrupts transcriptional repression; when associated with 442-AS-443. 2 Publications2
Mutagenesisi599 – 603SMDLT → PIAAS: Does not further disrupt transcriptional repression; when associated with 442-AA-443 and 567-AA-568. 5
Mutagenesisi948 – 949DL → AA: Abolishes CTBP binding but retains transcriptional repressor activity. 1 Publication2

Organism-specific databases

DisGeNETi8204
OpenTargetsiENSG00000180530
PharmGKBiPA31780

Chemistry databases

DrugBankiDB06884 4-HYDROXY-N'-(4-ISOPROPYLBENZYL)BENZOHYDRAZIDE

Polymorphism and mutation databases

BioMutaiNRIP1
DMDMi9988061

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000579511 – 1158Nuclear receptor-interacting protein 1Add BLAST1158

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei104PhosphoserineBy similarity1
Modified residuei111N6-acetyllysine; alternateBy similarity1
Cross-linki111Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei158N6-acetyllysineBy similarity1
Cross-linki170Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki195Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki198Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei207PhosphothreonineBy similarity1
Modified residuei218PhosphoserineCombined sources1
Modified residuei286N6-acetyllysineBy similarity1
Modified residuei310N6-acetyllysineBy similarity1
Modified residuei356PhosphoserineBy similarity1
Cross-linki372Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei378PhosphoserineBy similarity1
Modified residuei446N6-acetyllysine1 Publication1
Modified residuei481N6-acetyllysineBy similarity1
Modified residuei487PhosphoserineBy similarity1
Cross-linki508Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei518PhosphoserineBy similarity1
Modified residuei528N6-acetyllysineBy similarity1
Modified residuei542PhosphoserineBy similarity1
Modified residuei564PhosphoserineCombined sources1
Modified residuei606N6-acetyllysineBy similarity1
Modified residuei671PhosphoserineCombined sources1
Cross-linki756Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki802Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei807PhosphoserineCombined sources1
Cross-linki850Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki901Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei931N6-acetyllysine; alternateBy similarity1
Cross-linki931Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei1001PhosphoserineBy similarity1
Cross-linki1105Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1115Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki1154Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Acetylation regulates its nuclear translocation and corepressive activity (By similarity). Acetylation abolishes interaction with CTBP1. Phosphorylation enhances interaction with YWHAH.By similarity1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiP48552
MaxQBiP48552
PaxDbiP48552
PeptideAtlasiP48552
PRIDEiP48552
ProteomicsDBi55908

PTM databases

iPTMnetiP48552
PhosphoSitePlusiP48552

Expressioni

Inductioni

Expressed in a circadian manner in the liver (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000180530 Expressed in 242 organ(s), highest expression level in uterine cervix
CleanExiHS_NRIP1
ExpressionAtlasiP48552 baseline and differential
GenevisibleiP48552 HS

Organism-specific databases

HPAiHPA046571
HPA060036

Interactioni

Subunit structurei

Interacts with RARA and RXRB homodimers and RARA/RXRB heterodimers in the presence of ligand. Interacts with HDAC1 and HDAC3 via its N-terminal domain. Interacts with NR2C1 (sumoylated form and via the ligand-binding domain); the interaction results in promoting the repressor activity of NR2C1 (By similarity). Interacts with CTBP1, CTBP2, ESR1, HDAC1, HDAC2, HDAC5, HDAC6, NR2C2, NR3C1, NR3C2, YWHAH, JUN and FOS. Found in a complex with both NR3C1 and YWHAH. Interacts with ZNF366. Interacts with RORA.By similarity14 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi113843, 59 interactors
DIPiDIP-5964N
IntActiP48552, 26 interactors
MINTiP48552
STRINGi9606.ENSP00000327213

Structurei

Secondary structure

11158
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP48552
SMRiP48552
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP48552

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 415Interaction with ZNF3661 PublicationAdd BLAST415
Regioni78 – 333Repression domain 1Add BLAST256
Regioni410 – 700Repression domain 2Add BLAST291
Regioni431 – 472Required for targeting to small nuclear fociAdd BLAST42
Regioni735 – 885Repression domain 3Add BLAST151
Regioni753 – 1158Interaction with ZNF3661 PublicationAdd BLAST406
Regioni1118 – 1158Repression domain 4Add BLAST41

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi21 – 25LXXLL motif 15
Motifi133 – 137LXXLL motif 25
Motifi185 – 189LXXLL motif 35
Motifi266 – 270LXXLL motif 45
Motifi380 – 384LXXLL motif 55
Motifi440 – 446CTBP-binding; principal site7
Motifi500 – 504LXXLL motif 65
Motifi565 – 569CTBP-binding5
Motifi599 – 603CTBP-bindingSequence analysis5
Motifi713 – 717LXXLL motif 75
Motifi819 – 823LXXLL motif 85
Motifi936 – 940LXXLL motif 95
Motifi946 – 950CTBP-binding5
Motifi1061 – 1074Ligand-dependent nuclear receptor bindingBy similarityAdd BLAST14

Domaini

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IFW7 Eukaryota
ENOG410XPVS LUCA
GeneTreeiENSGT00390000007999
HOGENOMiHOG000236277
HOVERGENiHBG052667
InParanoidiP48552
KOiK17965
OMAiYMLQKGG
OrthoDBiEOG091G07UX
PhylomeDBiP48552
TreeFamiTF332210

Family and domain databases

InterProiView protein in InterPro
IPR026649 NRIP1
IPR031405 NRIP1_RD1
IPR031406 NRIP1_RD2
IPR031407 NRIP1_RD3
IPR031408 NRIP1_RD4
PANTHERiPTHR15088 PTHR15088, 1 hit
PfamiView protein in Pfam
PF15687 NRIP1_repr_1, 1 hit
PF15688 NRIP1_repr_2, 1 hit
PF15689 NRIP1_repr_3, 1 hit
PF15690 NRIP1_repr_4, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P48552-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTHGEELGSD VHQDSIVLTY LEGLLMHQAA GGSGTAVDKK SAGHNEEDQN
60 70 80 90 100
FNISGSAFPT CQSNGPVLNT HTYQGSGMLH LKKARLLQSS EDWNAAKRKR
110 120 130 140 150
LSDSIMNLNV KKEALLAGMV DSVPKGKQDS TLLASLLQSF SSRLQTVALS
160 170 180 190 200
QQIRQSLKEQ GYALSHDSLK VEKDLRCYGV ASSHLKTLLK KSKVKDQKPD
210 220 230 240 250
TNLPDVTKNL IRDRFAESPH HVGQSGTKVM SEPLSCAARL QAVASMVEKR
260 270 280 290 300
ASPATSPKPS VACSQLALLL SSEAHLQQYS REHALKTQNA NQAASERLAA
310 320 330 340 350
MARLQENGQK DVGSYQLPKG MSSHLNGQAR TSSSKLMASK SSATVFQNPM
360 370 380 390 400
GIIPSSPKNA GYKNSLERNN IKQAANNSLL LHLLKSQTIP KPMNGHSHSE
410 420 430 440 450
RGSIFEESST PTTIDEYSDN NPSFTDDSSG DESSYSNCVP IDLSCKHRTE
460 470 480 490 500
KSESDQPVSL DNFTQSLLNT WDPKVPDVDI KEDQDTSKNS KLNSHQKVTL
510 520 530 540 550
LQLLLGHKNE ENVEKNTSPQ GVHNDVSKFN TQNYARTSVI ESPSTNRTTP
560 570 580 590 600
VSTPPLLTSS KAGSPINLSQ HSLVIKWNSP PYVCSTQSEK LTNTASNHSM
610 620 630 640 650
DLTKSKDPPG EKPAQNEGAQ NSATFSASKL LQNLAQCGMQ SSMSVEEQRP
660 670 680 690 700
SKQLLTGNTD KPIGMIDRLN SPLLSNKTNA VEENKAFSSQ PTGPEPGLSG
710 720 730 740 750
SEIENLLERR TVLQLLLGNP NKGKSEKKEK TPLRDESTQE HSERALSEQI
760 770 780 790 800
LMVKIKSEPC DDLQIPNTNV HLSHDAKSAP FLGMAPAVQR SAPALPVSED
810 820 830 840 850
FKSEPVSPQD FSFSKNGLLS RLLRQNQDSY LADDSDRSHR NNEMALLESK
860 870 880 890 900
NLCMVPKKRK LYTEPLENPF KKMKNNIVDA ANNHSAPEVL YGSLLNQEEL
910 920 930 940 950
KFSRNDLEFK YPAGHGSASE SEHRSWARES KSFNVLKQLL LSENCVRDLS
960 970 980 990 1000
PHRSNSVADS KKKGHKNNVT NSKPEFSISS LNGLMYSSTQ PSSCMDNRTF
1010 1020 1030 1040 1050
SYPGVVKTPV SPTFPEHLGC AGSRPESGLL NGCSMPSEKG PIKWVITDAE
1060 1070 1080 1090 1100
KNEYEKDSPR LTKTNPILYY MLQKGGNSVT SRETQDKDIW REASSAESVS
1110 1120 1130 1140 1150
QVTAKEELLP TAETKASFFN LRSPYNSHMG NNASRPHSAN GEVYGLLGSV

LTIKKESE
Length:1,158
Mass (Da):126,942
Last modified:December 1, 2000 - v2
Checksum:i81FC424968E9A5F6
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J130C9J130_HUMAN
Nuclear receptor-interacting protei...
NRIP1
65Annotation score:
A0A1B0GUG9A0A1B0GUG9_HUMAN
Nuclear receptor-interacting protei...
NRIP1
12Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti124P → R in CAA59108 (PubMed:7641693).Curated1
Sequence conflicti721 – 726NKGKSE → TKGRVK in CAA59108 (PubMed:7641693).Curated6
Sequence conflicti954S → I in AAH40361 (PubMed:15489334).Curated1
Sequence conflicti1080T → A in CAA59108 (PubMed:7641693).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05124137V → I. Corresponds to variant dbSNP:rs9941840Ensembl.1
Natural variantiVAR_023706221H → R1 PublicationCorresponds to variant dbSNP:rs139263261Ensembl.1
Natural variantiVAR_034142315Y → F. Corresponds to variant dbSNP:rs2228507Ensembl.1
Natural variantiVAR_023707441I → V1 PublicationCorresponds to variant dbSNP:rs150468995Ensembl.1
Natural variantiVAR_023708448R → G Common polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs2229742Ensembl.1
Natural variantiVAR_051242567N → S. Corresponds to variant dbSNP:rs9975169Ensembl.1
Natural variantiVAR_023709803S → L1 PublicationCorresponds to variant dbSNP:rs61750208Ensembl.1
Natural variantiVAR_0237101079V → F1 PublicationCorresponds to variant dbSNP:rs140803495Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X84373 mRNA Translation: CAA59108.1
AF248484 Genomic DNA Translation: AAF62185.1
AF127577 Genomic DNA Translation: AAF35255.1
AL163207 Genomic DNA Translation: CAB90396.1
BC040361 mRNA Translation: AAH40361.1
CCDSiCCDS13568.1
PIRiS57348
RefSeqiNP_003480.2, NM_003489.3
XP_005261120.1, XM_005261063.3
XP_005261122.1, XM_005261065.3
XP_011528049.1, XM_011529747.1
XP_011528050.1, XM_011529748.2
XP_011528051.1, XM_011529749.2
XP_011528053.1, XM_011529751.2
XP_011528054.1, XM_011529752.1
XP_016883962.1, XM_017028473.1
XP_016883963.1, XM_017028474.1
XP_016883964.1, XM_017028475.1
XP_016883965.1, XM_017028476.1
UniGeneiHs.155017

Genome annotation databases

EnsembliENST00000318948; ENSP00000327213; ENSG00000180530
ENST00000400199; ENSP00000383060; ENSG00000180530
ENST00000400202; ENSP00000383063; ENSG00000180530
GeneIDi8204
KEGGihsa:8204
UCSCiuc002yjx.2 human

Keywords - Coding sequence diversityi

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
X84373 mRNA Translation: CAA59108.1
AF248484 Genomic DNA Translation: AAF62185.1
AF127577 Genomic DNA Translation: AAF35255.1
AL163207 Genomic DNA Translation: CAB90396.1
BC040361 mRNA Translation: AAH40361.1
CCDSiCCDS13568.1
PIRiS57348
RefSeqiNP_003480.2, NM_003489.3
XP_005261120.1, XM_005261063.3
XP_005261122.1, XM_005261065.3
XP_011528049.1, XM_011529747.1
XP_011528050.1, XM_011529748.2
XP_011528051.1, XM_011529749.2
XP_011528053.1, XM_011529751.2
XP_011528054.1, XM_011529752.1
XP_016883962.1, XM_017028473.1
XP_016883963.1, XM_017028474.1
XP_016883964.1, XM_017028475.1
XP_016883965.1, XM_017028476.1
UniGeneiHs.155017

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2GPOX-ray1.95C366-390[»]
2GPPX-ray2.60C/D366-390[»]
4S14X-ray3.54C499-510[»]
4S15X-ray1.90C/D499-510[»]
5NTIX-ray2.40P/Q/R/S493-512[»]
5NTNX-ray1.90P/Q/R/S493-512[»]
5NTWX-ray1.64P/Q/R/S493-512[»]
5NU1X-ray1.85P/Q493-512[»]
6FZUX-ray1.80P/Q493-512[»]
6G05X-ray1.90P/Q493-512[»]
6G07X-ray1.66P/Q/R/S493-512[»]
ProteinModelPortaliP48552
SMRiP48552
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113843, 59 interactors
DIPiDIP-5964N
IntActiP48552, 26 interactors
MINTiP48552
STRINGi9606.ENSP00000327213

Chemistry databases

DrugBankiDB06884 4-HYDROXY-N'-(4-ISOPROPYLBENZYL)BENZOHYDRAZIDE

PTM databases

iPTMnetiP48552
PhosphoSitePlusiP48552

Polymorphism and mutation databases

BioMutaiNRIP1
DMDMi9988061

Proteomic databases

EPDiP48552
MaxQBiP48552
PaxDbiP48552
PeptideAtlasiP48552
PRIDEiP48552
ProteomicsDBi55908

Protocols and materials databases

DNASUi8204
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318948; ENSP00000327213; ENSG00000180530
ENST00000400199; ENSP00000383060; ENSG00000180530
ENST00000400202; ENSP00000383063; ENSG00000180530
GeneIDi8204
KEGGihsa:8204
UCSCiuc002yjx.2 human

Organism-specific databases

CTDi8204
DisGeNETi8204
EuPathDBiHostDB:ENSG00000180530.9
GeneCardsiNRIP1
H-InvDBiHIX0027827
HGNCiHGNC:8001 NRIP1
HPAiHPA046571
HPA060036
MIMi602490 gene
neXtProtiNX_P48552
OpenTargetsiENSG00000180530
PharmGKBiPA31780
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFW7 Eukaryota
ENOG410XPVS LUCA
GeneTreeiENSGT00390000007999
HOGENOMiHOG000236277
HOVERGENiHBG052667
InParanoidiP48552
KOiK17965
OMAiYMLQKGG
OrthoDBiEOG091G07UX
PhylomeDBiP48552
TreeFamiTF332210

Enzyme and pathway databases

ReactomeiR-HSA-3899300 SUMOylation of transcription cofactors
R-HSA-400253 Circadian Clock
R-HSA-9018519 Estrogen-dependent gene expression
SignaLinkiP48552
SIGNORiP48552

Miscellaneous databases

ChiTaRSiNRIP1 human
EvolutionaryTraceiP48552
GeneWikiiNRIP1
GenomeRNAii8204
PROiPR:P48552
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000180530 Expressed in 242 organ(s), highest expression level in uterine cervix
CleanExiHS_NRIP1
ExpressionAtlasiP48552 baseline and differential
GenevisibleiP48552 HS

Family and domain databases

InterProiView protein in InterPro
IPR026649 NRIP1
IPR031405 NRIP1_RD1
IPR031406 NRIP1_RD2
IPR031407 NRIP1_RD3
IPR031408 NRIP1_RD4
PANTHERiPTHR15088 PTHR15088, 1 hit
PfamiView protein in Pfam
PF15687 NRIP1_repr_1, 1 hit
PF15688 NRIP1_repr_2, 1 hit
PF15689 NRIP1_repr_3, 1 hit
PF15690 NRIP1_repr_4, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiNRIP1_HUMAN
AccessioniPrimary (citable) accession number: P48552
Secondary accession number(s): Q8IWE8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1996
Last sequence update: December 1, 2000
Last modified: October 10, 2018
This is version 166 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 21
    Human chromosome 21: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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