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

Chromodomain-helicase-DNA-binding protein 5

Gene

CHD5

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

Functioni

Chromatin-remodeling protein that binds DNA through histones and regulates gene transcription. May specifically recognize and bind trimethylated 'Lys-27' (H3K27me3) and non-methylated 'Lys-4' of histone H3. Plays a role in the development of the nervous system by activating the expression of genes promoting neuron terminal differentiation. In parallel, it may also positively regulate the trimethylation of histone H3 at 'Lys-27' thereby specifically repressing genes that promote the differentiation into non-neuronal cell lineages. Tumor suppressor, it regulates the expression of genes involved in cell proliferation and differentiation. Downstream activated genes may include CDKN2A that positively regulates the p53/TP53 pathway, which in turn, prevents cell proliferation. In spermatogenesis, it probably regulates histone hyperacetylation and the replacement of histones by transition proteins in chromatin, a crucial step in the condensation of spermatid chromatin and the production of functional spermatozoa.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri343 – 390PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri416 – 463PHD-type 2PROSITE-ProRule annotationAdd BLAST48
Nucleotide bindingi725 – 732ATPPROSITE-ProRule annotationBy similarity8

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: UniProtKB-KW
  • H3K27me3 modified histone binding Source: UniProtKB
  • helicase activity Source: UniProtKB-KW
  • metal ion binding Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, DNA-binding, Helicase, Hydrolase
Biological processDifferentiation, Neurogenesis, Spermatogenesis, Transcription, Transcription regulation
LigandATP-binding, Metal-binding, Nucleotide-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Chromodomain-helicase-DNA-binding protein 5 (EC:3.6.4.12)
Short name:
CHD-5
Alternative name(s):
ATP-dependent helicase CHD5
Gene namesi
Name:CHD5Imported
Synonyms:KIAA0444
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116254.17
HGNCiHGNC:16816 CHD5
MIMi610771 gene
neXtProtiNX_Q8TDI0

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

Involvement in diseasei

Defects in CHD5 may be a cause of the development of cancers from epithelial, neural and hematopoietic origin. CHD5 is one of the missing genes in the del(1p36), a deletion which is extremely common in this type of cancers. A decrease of its expression, results in increased susceptibility of cells to Ras-mediated transformation in vitro and in vivo (PubMed:17289567).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi518L → A: Reduced affinity for trimethylated histone H3K27me3. 1 Publication1
Mutagenesisi619Y → E: Reduced affinity for trimethylated histone H3K27me3. 1 Publication1
Mutagenesisi1390Q → R: Abolishes methylation by N6AMT1. 1 Publication1

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi26038
OpenTargetsiENSG00000116254
PharmGKBiPA134969178

Polymorphism and mutation databases

BioMutaiCHD5
DMDMi51701343

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000802301 – 1954Chromodomain-helicase-DNA-binding protein 5Add BLAST1954

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1390N5-methylglutamine1 Publication1
Modified residuei1554PhosphoserineBy similarity1

Post-translational modificationi

Methylated at Gln-1390 by N6AMT1.1 Publication

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ8TDI0
MaxQBiQ8TDI0
PaxDbiQ8TDI0
PeptideAtlasiQ8TDI0
PRIDEiQ8TDI0
ProteomicsDBi74289

PTM databases

iPTMnetiQ8TDI0
PhosphoSitePlusiQ8TDI0

Expressioni

Tissue specificityi

Preferentially expressed in total brain, fetal brain, and cerebellum. It is also moderately expressed in the adrenal gland and detected in testis.2 Publications

Gene expression databases

BgeeiENSG00000116254 Expressed in 131 organ(s), highest expression level in frontal cortex
CleanExiHS_CHD5
ExpressionAtlasiQ8TDI0 baseline and differential
GenevisibleiQ8TDI0 HS

Organism-specific databases

HPAiHPA015809
HPA055477

Interactioni

Subunit structurei

May be part of a nucleosome remodeling and histone deacetylation, NuRD-like, complex composed at least of GATAD2B, HDAC1, HDAC2 and MTA3.By similarity

GO - Molecular functioni

Protein-protein interaction databases

BioGridi117504, 18 interactors
IntActiQ8TDI0, 4 interactors
MINTiQ8TDI0
STRINGi9606.ENSP00000262450

Structurei

3D structure databases

ProteinModelPortaliQ8TDI0
SMRiQ8TDI0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini497 – 554Chromo 1PROSITE-ProRule annotationAdd BLAST58
Domaini592 – 653Chromo 2PROSITE-ProRule annotationAdd BLAST62
Domaini712 – 896Helicase ATP-bindingPROSITE-ProRule annotationAdd BLAST185
Domaini1028 – 1193Helicase C-terminalPROSITE-ProRule annotationAdd BLAST166

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni343 – 653Histone-bindingAdd BLAST311

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi847 – 850DEAH box4

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi49 – 116Lys-richAdd BLAST68

Domaini

The PHD domains mediate specific binding to histone H3 unmethylated at 'Lys-4' and may preferentially recruit the protein to transcriptionally inactive genes.By similarity
The chromo domains mediate specific binding to histone H3 trimethylated at 'Lys-27' (H3K27me3) and may be required in neuron differentiation for proper gene regulation.1 Publication

Sequence similaritiesi

Belongs to the SNF2/RAD54 helicase family.Sequence analysis

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri343 – 390PHD-type 1PROSITE-ProRule annotationAdd BLAST48
Zinc fingeri416 – 463PHD-type 2PROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiENOG410IREB Eukaryota
ENOG410XNUT LUCA
GeneTreeiENSGT00760000119067
HOGENOMiHOG000231124
HOVERGENiHBG005326
InParanoidiQ8TDI0
KOiK14435
OMAiEADYHTL
OrthoDBiEOG091G00G4
PhylomeDBiQ8TDI0
TreeFamiTF106448

Family and domain databases

CDDicd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit
Gene3Di3.30.40.10, 2 hits
3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR028727 CHD5
IPR012957 CHD_C2
IPR012958 CHD_N
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR009462 DUF1086
IPR009463 DUF1087
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR10799:SF583 PTHR10799:SF583, 1 hit
PfamiView protein in Pfam
PF08074 CHDCT2, 1 hit
PF08073 CHDNT, 1 hit
PF00385 Chromo, 1 hit
PF06461 DUF1086, 1 hit
PF06465 DUF1087, 1 hit
PF00271 Helicase_C, 1 hit
PF00628 PHD, 2 hits
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01146 DUF1086, 1 hit
SM01147 DUF1087, 1 hit
SM00490 HELICc, 1 hit
SM00249 PHD, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
SSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS50013 CHROMO_2, 2 hits
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 2 hits

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 5 potential isoforms that are computationally mapped.Show allAlign All

Q8TDI0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRGPVGTEEE LPRLFAEEME NEDEMSEEED GGLEAFDDFF PVEPVSLPKK
60 70 80 90 100
KKPKKLKENK CKGKRKKKEG SNDELSENEE DLEEKSESEG SDYSPNKKKK
110 120 130 140 150
KKLKDKKEKK AKRKKKDEDE DDNDDGCLKE PKSSGQLMAE WGLDDVDYLF
160 170 180 190 200
SEEDYHTLTN YKAFSQFLRP LIAKKNPKIP MSKMMTVLGA KWREFSANNP
210 220 230 240 250
FKGSSAAAAA AAVAAAVETV TISPPLAVSP PQVPQPVPIR KAKTKEGKGP
260 270 280 290 300
GVRKKIKGSK DGKKKGKGKK TAGLKFRFGG ISNKRKKGSS SEEDEREESD
310 320 330 340 350
FDSASIHSAS VRSECSAALG KKSKRRRKKK RIDDGDGYET DHQDYCEVCQ
360 370 380 390 400
QGGEIILCDT CPRAYHLVCL DPELEKAPEG KWSCPHCEKE GIQWEPKDDD
410 420 430 440 450
DEEEEGGCEE EEDDHMEFCR VCKDGGELLC CDACPSSYHL HCLNPPLPEI
460 470 480 490 500
PNGEWLCPRC TCPPLKGKVQ RILHWRWTEP PAPFMVGLPG PDVEPSLPPP
510 520 530 540 550
KPLEGIPERE FFVKWAGLSY WHCSWVKELQ LELYHTVMYR NYQRKNDMDE
560 570 580 590 600
PPPFDYGSGD EDGKSEKRKN KDPLYAKMEE RFYRYGIKPE WMMIHRILNH
610 620 630 640 650
SFDKKGDVHY LIKWKDLPYD QCTWEIDDID IPYYDNLKQA YWGHRELMLG
660 670 680 690 700
EDTRLPKRLL KKGKKLRDDK QEKPPDTPIV DPTVKFDKQP WYIDSTGGTL
710 720 730 740 750
HPYQLEGLNW LRFSWAQGTD TILADEMGLG KTVQTIVFLY SLYKEGHSKG
760 770 780 790 800
PYLVSAPLST IINWEREFEM WAPDFYVVTY TGDKESRSVI RENEFSFEDN
810 820 830 840 850
AIRSGKKVFR MKKEVQIKFH VLLTSYELIT IDQAILGSIE WACLVVDEAH
860 870 880 890 900
RLKNNQSKFF RVLNSYKIDY KLLLTGTPLQ NNLEELFHLL NFLTPERFNN
910 920 930 940 950
LEGFLEEFAD ISKEDQIKKL HDLLGPHMLR RLKADVFKNM PAKTELIVRV
960 970 980 990 1000
ELSQMQKKYY KFILTRNFEA LNSKGGGNQV SLLNIMMDLK KCCNHPYLFP
1010 1020 1030 1040 1050
VAAVEAPVLP NGSYDGSSLV KSSGKLMLLQ KMLKKLRDEG HRVLIFSQMT
1060 1070 1080 1090 1100
KMLDLLEDFL EYEGYKYERI DGGITGGLRQ EAIDRFNAPG AQQFCFLLST
1110 1120 1130 1140 1150
RAGGLGINLA TADTVIIYDS DWNPHNDIQA FSRAHRIGQN KKVMIYRFVT
1160 1170 1180 1190 1200
RASVEERITQ VAKRKMMLTH LVVRPGLGSK SGSMTKQELD DILKFGTEEL
1210 1220 1230 1240 1250
FKDDVEGMMS QGQRPVTPIP DVQSSKGGNL AASAKKKHGS TPPGDNKDVE
1260 1270 1280 1290 1300
DSSVIHYDDA AISKLLDRNQ DATDDTELQN MNEYLSSFKV AQYVVREEDG
1310 1320 1330 1340 1350
VEEVEREIIK QEENVDPDYW EKLLRHHYEQ QQEDLARNLG KGKRIRKQVN
1360 1370 1380 1390 1400
YNDASQEDQE WQDELSDNQS EYSIGSEDED EDFEERPEGQ SGRRQSRRQL
1410 1420 1430 1440 1450
KSDRDKPLPP LLARVGGNIE VLGFNARQRK AFLNAIMRWG MPPQDAFNSH
1460 1470 1480 1490 1500
WLVRDLRGKS EKEFRAYVSL FMRHLCEPGA DGAETFADGV PREGLSRQHV
1510 1520 1530 1540 1550
LTRIGVMSLV RKKVQEFEHV NGKYSTPDLI PEGPEGKKSG EVISSDPNTP
1560 1570 1580 1590 1600
VPASPAHLLP APLGLPDKME AQLGYMDEKD PGAQKPRQPL EVQALPAALD
1610 1620 1630 1640 1650
RVESEDKHES PASKERAREE RPEETEKAPP SPEQLPREEV LPEKEKILDK
1660 1670 1680 1690 1700
LELSLIHSRG DSSELRPDDT KAEEKEPIET QQNGDKEEDD EGKKEDKKGK
1710 1720 1730 1740 1750
FKFMFNIADG GFTELHTLWQ NEERAAVSSG KIYDIWHRRH DYWLLAGIVT
1760 1770 1780 1790 1800
HGYARWQDIQ NDPRYMILNE PFKSEVHKGN YLEMKNKFLA RRFKLLEQAL
1810 1820 1830 1840 1850
VIEEQLRRAA YLNMTQDPNH PAMALNARLA EVECLAESHQ HLSKESLAGN
1860 1870 1880 1890 1900
KPANAVLHKV LNQLEELLSD MKADVTRLPS MLSRIPPVAA RLQMSERSIL
1910 1920 1930 1940 1950
SRLTNRAGDP TIQQGAFGSS QMYSNNFGPN FRGPGPGGIV NYNQMPLGPY

VTDI
Length:1,954
Mass (Da):223,050
Last modified:June 1, 2002 - v1
Checksum:iE333062B5B55E71F
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F2Z2R5F2Z2R5_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD5
1,225Annotation score:
K7EMY3K7EMY3_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD5
1,060Annotation score:
F6T542F6T542_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD5
110Annotation score:
K7ESA5K7ESA5_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD5
127Annotation score:
K7EMC0K7EMC0_HUMAN
Chromodomain-helicase-DNA-binding p...
CHD5
90Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03547545V → M in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035476119D → N in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_035477667R → G in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0487291253S → I. Corresponds to variant dbSNP:rs6657997Ensembl.1
Natural variantiVAR_0487301539S → P2 PublicationsCorresponds to variant dbSNP:rs2843493Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF425231 mRNA Translation: AAL98962.1
AL031847 Genomic DNA No translation available.
AL035406 Genomic DNA No translation available.
AL117491 mRNA Translation: CAB55959.1
AB007913 mRNA Translation: BAA32289.1
CCDSiCCDS57.1
PIRiT17269
RefSeqiNP_056372.1, NM_015557.2
UniGeneiHs.522898

Genome annotation databases

EnsembliENST00000262450; ENSP00000262450; ENSG00000116254
GeneIDi26038
KEGGihsa:26038
UCSCiuc001amb.3 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
AF425231 mRNA Translation: AAL98962.1
AL031847 Genomic DNA No translation available.
AL035406 Genomic DNA No translation available.
AL117491 mRNA Translation: CAB55959.1
AB007913 mRNA Translation: BAA32289.1
CCDSiCCDS57.1
PIRiT17269
RefSeqiNP_056372.1, NM_015557.2
UniGeneiHs.522898

3D structure databases

ProteinModelPortaliQ8TDI0
SMRiQ8TDI0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117504, 18 interactors
IntActiQ8TDI0, 4 interactors
MINTiQ8TDI0
STRINGi9606.ENSP00000262450

PTM databases

iPTMnetiQ8TDI0
PhosphoSitePlusiQ8TDI0

Polymorphism and mutation databases

BioMutaiCHD5
DMDMi51701343

Proteomic databases

EPDiQ8TDI0
MaxQBiQ8TDI0
PaxDbiQ8TDI0
PeptideAtlasiQ8TDI0
PRIDEiQ8TDI0
ProteomicsDBi74289

Protocols and materials databases

DNASUi26038
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000262450; ENSP00000262450; ENSG00000116254
GeneIDi26038
KEGGihsa:26038
UCSCiuc001amb.3 human

Organism-specific databases

CTDi26038
DisGeNETi26038
EuPathDBiHostDB:ENSG00000116254.17
GeneCardsiCHD5
HGNCiHGNC:16816 CHD5
HPAiHPA015809
HPA055477
MIMi610771 gene
neXtProtiNX_Q8TDI0
OpenTargetsiENSG00000116254
PharmGKBiPA134969178
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IREB Eukaryota
ENOG410XNUT LUCA
GeneTreeiENSGT00760000119067
HOGENOMiHOG000231124
HOVERGENiHBG005326
InParanoidiQ8TDI0
KOiK14435
OMAiEADYHTL
OrthoDBiEOG091G00G4
PhylomeDBiQ8TDI0
TreeFamiTF106448

Miscellaneous databases

ChiTaRSiCHD5 human
GeneWikiiCHD5
GenomeRNAii26038
PROiPR:Q8TDI0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116254 Expressed in 131 organ(s), highest expression level in frontal cortex
CleanExiHS_CHD5
ExpressionAtlasiQ8TDI0 baseline and differential
GenevisibleiQ8TDI0 HS

Family and domain databases

CDDicd00024 CHROMO, 2 hits
cd00079 HELICc, 1 hit
Gene3Di3.30.40.10, 2 hits
3.40.50.10810, 1 hit
InterProiView protein in InterPro
IPR028727 CHD5
IPR012957 CHD_C2
IPR012958 CHD_N
IPR016197 Chromo-like_dom_sf
IPR000953 Chromo/chromo_shadow_dom
IPR023780 Chromo_domain
IPR002464 DNA/RNA_helicase_DEAH_CS
IPR009462 DUF1086
IPR009463 DUF1087
IPR014001 Helicase_ATP-bd
IPR001650 Helicase_C
IPR027417 P-loop_NTPase
IPR038718 SNF2-like_sf
IPR000330 SNF2_N
IPR019786 Zinc_finger_PHD-type_CS
IPR011011 Znf_FYVE_PHD
IPR001965 Znf_PHD
IPR019787 Znf_PHD-finger
IPR013083 Znf_RING/FYVE/PHD
PANTHERiPTHR10799:SF583 PTHR10799:SF583, 1 hit
PfamiView protein in Pfam
PF08074 CHDCT2, 1 hit
PF08073 CHDNT, 1 hit
PF00385 Chromo, 1 hit
PF06461 DUF1086, 1 hit
PF06465 DUF1087, 1 hit
PF00271 Helicase_C, 1 hit
PF00628 PHD, 2 hits
PF00176 SNF2_N, 1 hit
SMARTiView protein in SMART
SM00298 CHROMO, 2 hits
SM00487 DEXDc, 1 hit
SM01146 DUF1086, 1 hit
SM01147 DUF1087, 1 hit
SM00490 HELICc, 1 hit
SM00249 PHD, 2 hits
SUPFAMiSSF52540 SSF52540, 2 hits
SSF54160 SSF54160, 2 hits
SSF57903 SSF57903, 1 hit
PROSITEiView protein in PROSITE
PS50013 CHROMO_2, 2 hits
PS00690 DEAH_ATP_HELICASE, 1 hit
PS51192 HELICASE_ATP_BIND_1, 1 hit
PS51194 HELICASE_CTER, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiCHD5_HUMAN
AccessioniPrimary (citable) accession number: Q8TDI0
Secondary accession number(s): O75032
, Q5TG89, Q7LGH2, Q9UFR9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: June 1, 2002
Last modified: November 7, 2018
This is version 157 of the entry and version 1 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 chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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