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Protein

Chromodomain-helicase-DNA-binding protein 1

Gene

CHD1

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

Functioni

ATP-dependent chromatin-remodeling factor which functions as substrate recognition component of the transcription regulatory histone acetylation (HAT) complex SAGA. Regulates polymerase II transcription. Also required for efficient transcription by RNA polymerase I, and more specifically the polymerase I transcription termination step. Regulates negatively DNA replication. Not only involved in transcription-related chromatin-remodeling, but also required to maintain a specific chromatin configuration across the genome. Is also associated with histone deacetylase (HDAC) activity (By similarity). Required for the bridging of SNF2, the FACT complex, the PAF complex as well as the U2 snRNP complex to H3K4me3. Functions to modulate the efficiency of pre-mRNA splicing in part through physical bridging of spliceosomal components to H3K4me3 (PubMed:18042460, PubMed:28866611). Required for maintaining open chromatin and pluripotency in embryonic stem cells (By similarity).By similarity2 Publications

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi506 – 513ATPPROSITE-ProRule annotation8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • ATP-dependent DNA helicase activity Source: ProtInc
  • DNA binding Source: UniProtKB-KW
  • methylated histone binding Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processTranscription, Transcription regulation
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-9018519 Estrogen-dependent gene expression

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 1 (EC:3.6.4.12)
Short name:
CHD-1
Alternative name(s):
ATP-dependent helicase CHD1
Gene namesi
Name:CHD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000153922.10
HGNCiHGNC:1915 CHD1
MIMi602118 gene
neXtProtiNX_O14646

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

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Pilarowski-Bjornsson syndrome (PILBOS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by developmental delay, speech apraxia, intellectual disability, autism, and facial dysmorphic features. Some patients may have seizures.
See also OMIM:617682
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080265141R → G in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1064795875Ensembl.1
Natural variantiVAR_080266460R → K in PILBOS. 1 Publication1
Natural variantiVAR_080267618R → Q in PILBOS; patient cells show a global increase of methylated histone binding. 1 Publication1
Natural variantiVAR_0802681708R → Q in PILBOS. 1 Publication1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi1105
MalaCardsiCHD1
MIMi617682 phenotype
OpenTargetsiENSG00000153922
PharmGKBiPA26451

Chemistry databases

DrugBankiDB00445 Epirubicin

Polymorphism and mutation databases

BioMutaiCHD1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000802241 – 1710Chromodomain-helicase-DNA-binding protein 1Add BLAST1710

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei215PhosphoserineCombined sources1
Modified residuei216PhosphoserineCombined sources1
Modified residuei237PhosphothreonineCombined sources1
Modified residuei241PhosphoserineCombined sources1
Modified residuei250PhosphothreonineCombined sources1
Modified residuei252PhosphoserineCombined sources1
Modified residuei471PhosphoserineCombined sources1
Modified residuei1025PhosphoserineCombined sources1
Modified residuei1040PhosphoserineCombined sources1
Modified residuei1081PhosphoserineCombined sources1
Modified residuei1085PhosphoserineBy similarity1
Modified residuei1096PhosphoserineCombined sources1
Modified residuei1098PhosphoserineCombined sources1
Modified residuei1100PhosphoserineCombined sources1
Modified residuei1102PhosphoserineCombined sources1
Modified residuei1161PhosphoserineCombined sources1
Modified residuei1353PhosphoserineCombined sources1
Modified residuei1355PhosphoserineCombined sources1
Modified residuei1356PhosphoserineCombined sources1
Modified residuei1360PhosphoserineCombined sources1
Modified residuei1363PhosphoserineCombined sources1
Modified residuei1371PhosphoserineCombined sources1
Modified residuei1373PhosphoserineBy similarity1
Modified residuei1622PhosphoserineCombined sources1
Modified residuei1677PhosphoserineCombined sources1
Modified residuei1689PhosphoserineCombined sources1
Isoform 2 (identifier: O14646-2)
Modified residuei1688PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO14646
MaxQBiO14646
PaxDbiO14646
PeptideAtlasiO14646
PRIDEiO14646
ProteomicsDBi48142
48143 [O14646-2]

PTM databases

CarbonylDBiO14646
iPTMnetiO14646
PhosphoSitePlusiO14646

Expressioni

Tissue specificityi

Expressed in many tissues including in the brain, where the highest level of expression is found in the cerebellum and basal ganglia.1 Publication

Gene expression databases

BgeeiENSG00000153922 Expressed in 223 organ(s), highest expression level in intestine
CleanExiHS_CHD1
ExpressionAtlasiO14646 baseline and differential
GenevisibleiO14646 HS

Organism-specific databases

HPAiHPA022236

Interactioni

Subunit structurei

Component of the SAGA complex (By similarity). Interacts with BCLAF1, NCoR, SRP20 and SAFB (By similarity). Specifically interacts with methylated H3K4me2 and H3K4me3. Interacts with the FACT complex, the PAF complex and the U2 snRNP. Interacts directly with PAF1, SFA3A1, SFA3A2, SFA3A3, SNF2 and SSRP1.By similarity4 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi107530, 37 interactors
DIPiDIP-38922N
IntActiO14646, 13 interactors
STRINGi9606.ENSP00000284049

Structurei

Secondary structure

11710
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO14646
SMRiO14646
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO14646

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini272 – 364Chromo 1PROSITE-ProRule annotationAdd BLAST93
Domaini389 – 452Chromo 2PROSITE-ProRule annotationAdd BLAST64
Domaini493 – 663Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST171
Domaini792 – 943Helicase C-terminalPROSITE-ProRule annotationAdd BLAST152
Repeati1628 – 163215
Repeati1634 – 163825
Repeati1640 – 164435

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1628 – 16443 X 5 AA repeats of H-S-D-H-RAdd BLAST17

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi614 – 617DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1 – 70Ser-richAdd BLAST70
Compositional biasi117 – 137Ser-richAdd BLAST21

Domaini

The 2 chromodomains are involved in the binding to the histone H3 methyllysine at position 4 (H3K4me3).

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Curated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0383 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00760000119067
HOGENOMiHOG000207917
HOVERGENiHBG005325
InParanoidiO14646
KOiK11367
OMAiYEWQFEG
OrthoDBiEOG091G00HF
PhylomeDBiO14646
TreeFamiTF313461

Family and domain databases

CDDicd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR023779 Chromodomain_CS
IPR025260 DUF4208
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00385 Chromo, 2 hits
PF13907 DUF4208, 1 hit
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01176 DUF4208, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
PROSITEiView protein in PROSITE
PS00598 CHROMO_1, 2 hits
PS50013 CHROMO_2, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O14646-1) [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
MNGHSDEESV RNSSGESSQS DDDSGSASGS GSGSSSGSSS DGSSSQSGSS
60 70 80 90 100
DSDSGSESGS QSESESDTSR ENKVQAKPPK VDGAEFWKSS PSILAVQRSA
110 120 130 140 150
ILKKQQQQQQ QQQHQASSNS GSEEDSSSSE DSDDSSSEVK RKKHKDEDWQ
160 170 180 190 200
MSGSGSPSQS GSDSESEEER EKSSCDETES DYEPKNKVKS RKPQNRSKSK
210 220 230 240 250
NGKKILGQKK RQIDSSEEDD DEEDYDNDKR SSRRQATVNV SYKEDEEMKT
260 270 280 290 300
DSDDLLEVCG EDVPQPEEEE FETIERFMDC RIGRKGATGA TTTIYAVEAD
310 320 330 340 350
GDPNAGFEKN KEPGEIQYLI KWKGWSHIHN TWETEETLKQ QNVRGMKKLD
360 370 380 390 400
NYKKKDQETK RWLKNASPED VEYYNCQQEL TDDLHKQYQI VERIIAHSNQ
410 420 430 440 450
KSAAGYPDYY CKWQGLPYSE CSWEDGALIS KKFQACIDEY FSRNQSKTTP
460 470 480 490 500
FKDCKVLKQR PRFVALKKQP SYIGGHEGLE LRDYQLNGLN WLAHSWCKGN
510 520 530 540 550
SCILADEMGL GKTIQTISFL NYLFHEHQLY GPFLLVVPLS TLTSWQREIQ
560 570 580 590 600
TWASQMNAVV YLGDINSRNM IRTHEWTHHQ TKRLKFNILL TTYEILLKDK
610 620 630 640 650
AFLGGLNWAF IGVDEAHRLK NDDSLLYKTL IDFKSNHRLL ITGTPLQNSL
660 670 680 690 700
KELWSLLHFI MPEKFSSWED FEEEHGKGRE YGYASLHKEL EPFLLRRVKK
710 720 730 740 750
DVEKSLPAKV EQILRMEMSA LQKQYYKWIL TRNYKALSKG SKGSTSGFLN
760 770 780 790 800
IMMELKKCCN HCYLIKPPDN NEFYNKQEAL QHLIRSSGKL ILLDKLLIRL
810 820 830 840 850
RERGNRVLIF SQMVRMLDIL AEYLKYRQFP FQRLDGSIKG ELRKQALDHF
860 870 880 890 900
NAEGSEDFCF LLSTRAGGLG INLASADTVV IFDSDWNPQN DLQAQARAHR
910 920 930 940 950
IGQKKQVNIY RLVTKGSVEE DILERAKKKM VLDHLVIQRM DTTGKTVLHT
960 970 980 990 1000
GSAPSSSTPF NKEELSAILK FGAEELFKEP EGEEQEPQEM DIDEILKRAE
1010 1020 1030 1040 1050
THENEPGPLT VGDELLSQFK VANFSNMDED DIELEPERNS KNWEEIIPED
1060 1070 1080 1090 1100
QRRRLEEEER QKELEEIYML PRMRNCAKQI SFNGSEGRRS RSRRYSGSDS
1110 1120 1130 1140 1150
DSISEGKRPK KRGRPRTIPR ENIKGFSDAE IRRFIKSYKK FGGPLERLDA
1160 1170 1180 1190 1200
IARDAELVDK SETDLRRLGE LVHNGCIKAL KDSSSGTERT GGRLGKVKGP
1210 1220 1230 1240 1250
TFRISGVQVN AKLVISHEEE LIPLHKSIPS DPEERKQYTI PCHTKAAHFD
1260 1270 1280 1290 1300
IDWGKEDDSN LLIGIYEYGY GSWEMIKMDP DLSLTHKILP DDPDKKPQAK
1310 1320 1330 1340 1350
QLQTRADYLI KLLSRDLAKK EALSGAGSSK RRKARAKKNK AMKSIKVKEE
1360 1370 1380 1390 1400
IKSDSSPLPS EKSDEDDDKL SESKSDGRER SKKSSVSDAP VHITASGEPV
1410 1420 1430 1440 1450
PISEESEELD QKTFSICKER MRPVKAALKQ LDRPEKGLSE REQLEHTRQC
1460 1470 1480 1490 1500
LIKIGDHITE CLKEYTNPEQ IKQWRKNLWI FVSKFTEFDA RKLHKLYKHA
1510 1520 1530 1540 1550
IKKRQESQQN SDQNSNLNPH VIRNPDVERL KENTNHDDSS RDSYSSDRHL
1560 1570 1580 1590 1600
TQYHDHHKDR HQGDSYKKSD SRKRPYSSFS NGKDHRDWDH YKQDSRYYSD
1610 1620 1630 1640 1650
REKHRKLDDH RSRDHRSNLE GSLKDRSHSD HRSHSDHRLH SDHRSSSEYT
1660 1670 1680 1690 1700
HHKSSRDYRY HSDWQMDHRA SSSGPRSPLD QRSPYGSRSP FEHSVEHKST
1710
PEHTWSSRKT
Length:1,710
Mass (Da):196,688
Last modified:November 24, 2009 - v2
Checksum:iD888AAA46FDA31B1
GO
Isoform 2 (identifier: O14646-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1684-1684: Missing.

Show »
Length:1,709
Mass (Da):196,590
Checksum:i8B2C96C7597E55B4
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WVF4A0A087WVF4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD1
272Annotation score:
H0Y8V4H0Y8V4_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD1
113Annotation score:
H0Y8Z0H0Y8Z0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD1
22Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti392E → G in AAB87381 (PubMed:9326634).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080265141R → G in PILBOS. 1 PublicationCorresponds to variant dbSNP:rs1064795875Ensembl.1
Natural variantiVAR_055652264P → T. Corresponds to variant dbSNP:rs10062803Ensembl.1
Natural variantiVAR_080266460R → K in PILBOS. 1 Publication1
Natural variantiVAR_080267618R → Q in PILBOS; patient cells show a global increase of methylated histone binding. 1 Publication1
Natural variantiVAR_0802681708R → Q in PILBOS. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0384321684Missing in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006513 mRNA Translation: AAB87381.1
AC022121 Genomic DNA No translation available.
BC117134 mRNA Translation: AAI17135.1
CCDSiCCDS34204.1 [O14646-1]
RefSeqiNP_001261.2, NM_001270.2 [O14646-1]
XP_005271924.1, XM_005271867.4 [O14646-1]
UniGeneiHs.643465

Genome annotation databases

EnsembliENST00000284049; ENSP00000284049; ENSG00000153922 [O14646-1]
ENST00000614616; ENSP00000483667; ENSG00000153922 [O14646-1]
GeneIDi1105
KEGGihsa:1105
UCSCiuc003knf.3 human [O14646-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF006513 mRNA Translation: AAB87381.1
AC022121 Genomic DNA No translation available.
BC117134 mRNA Translation: AAI17135.1
CCDSiCCDS34204.1 [O14646-1]
RefSeqiNP_001261.2, NM_001270.2 [O14646-1]
XP_005271924.1, XM_005271867.4 [O14646-1]
UniGeneiHs.643465

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2B2TX-ray2.45A/B268-443[»]
C268-373[»]
2B2UX-ray2.95A/B268-443[»]
C268-373[»]
2B2VX-ray2.65A/B268-443[»]
C268-373[»]
2B2WX-ray2.40A/B268-443[»]
C268-373[»]
2B2YX-ray2.35A/B268-443[»]
C268-373[»]
2N39NMR-A1409-1511[»]
4B4CX-ray1.62A1119-1327[»]
4NW2X-ray1.90A/C268-443[»]
4O42X-ray1.87A268-443[»]
5AFWX-ray1.60A270-443[»]
ProteinModelPortaliO14646
SMRiO14646
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107530, 37 interactors
DIPiDIP-38922N
IntActiO14646, 13 interactors
STRINGi9606.ENSP00000284049

Chemistry databases

DrugBankiDB00445 Epirubicin

PTM databases

CarbonylDBiO14646
iPTMnetiO14646
PhosphoSitePlusiO14646

Polymorphism and mutation databases

BioMutaiCHD1

Proteomic databases

EPDiO14646
MaxQBiO14646
PaxDbiO14646
PeptideAtlasiO14646
PRIDEiO14646
ProteomicsDBi48142
48143 [O14646-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284049; ENSP00000284049; ENSG00000153922 [O14646-1]
ENST00000614616; ENSP00000483667; ENSG00000153922 [O14646-1]
GeneIDi1105
KEGGihsa:1105
UCSCiuc003knf.3 human [O14646-1]

Organism-specific databases

CTDi1105
DisGeNETi1105
EuPathDBiHostDB:ENSG00000153922.10
GeneCardsiCHD1
H-InvDBiHIX0005061
HGNCiHGNC:1915 CHD1
HPAiHPA022236
MalaCardsiCHD1
MIMi602118 gene
617682 phenotype
neXtProtiNX_O14646
OpenTargetsiENSG00000153922
PharmGKBiPA26451
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0383 Eukaryota
COG0553 LUCA
GeneTreeiENSGT00760000119067
HOGENOMiHOG000207917
HOVERGENiHBG005325
InParanoidiO14646
KOiK11367
OMAiYEWQFEG
OrthoDBiEOG091G00HF
PhylomeDBiO14646
TreeFamiTF313461

Enzyme and pathway databases

ReactomeiR-HSA-9018519 Estrogen-dependent gene expression

Miscellaneous databases

ChiTaRSiCHD1 human
EvolutionaryTraceiO14646
GeneWikiiCHD1
GenomeRNAii1105
PROiPR:O14646
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000153922 Expressed in 223 organ(s), highest expression level in intestine
CleanExiHS_CHD1
ExpressionAtlasiO14646 baseline and differential
GenevisibleiO14646 HS

Family and domain databases

CDDicd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit
Gene3Di3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR023779 Chromodomain_CS
IPR025260 DUF4208
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
PfamiView protein in Pfam
PF00385 Chromo, 2 hits
PF13907 DUF4208, 1 hit
PF00271 Helicase_C, 1 hit
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01176 DUF4208, 1 hit
SM00490 HELICc, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
PROSITEiView protein in PROSITE
PS00598 CHROMO_1, 2 hits
PS50013 CHROMO_2, 2 hits
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCHD1_HUMAN
AccessioniPrimary (citable) accession number: O14646
Secondary accession number(s): Q17RZ3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 24, 2009
Last modified: November 7, 2018
This is version 179 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. 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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