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

Fanconi-associated nuclease 1

Gene

FAN1

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

Functioni

Nuclease required for the repair of DNA interstrand cross-links (ICL) recruited at sites of DNA damage by monoubiquitinated FANCD2. Specifically involved in repair of ICL-induced DNA breaks by being required for efficient homologous recombination, probably in the resolution of homologous recombination intermediates (PubMed:20603015, PubMed:20603016, PubMed:20603073, PubMed:20671156, PubMed:24981866, PubMed:25430771). Not involved in DNA double-strand breaks resection (PubMed:20603015, PubMed:20603016). Acts as a 5'-3' exonuclease that anchors at a cut end of DNA and cleaves DNA successively at every third nucleotide, allowing to excise an ICL from one strand through flanking incisions. Probably keeps excising with 3'-flap annealing until it reaches and unhooks the ICL (PubMed:25430771). Acts at sites that have a 5'-terminal phosphate anchor at a nick or a 1- or 2-nucleotide flap and is augmented by a 3' flap (PubMed:25430771). Also has endonuclease activity toward 5'-flaps (PubMed:20603015, PubMed:20603016, PubMed:24981866).7 Publications

Catalytic activityi

Hydrolytically removes 5'-nucleotides successively from the 3'-hydroxy termini of 3'-hydroxy-terminated oligonucleotides.2 Publications

Cofactori

Mn2+1 Publication, Mg2+1 PublicationNote: Binds 2 magnesium or manganese ions per subunit.By similarity1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi834Magnesium or manganese 2By similarity1
Metal bindingi960Magnesium or manganese 11 Publication1
Metal bindingi960Magnesium or manganese 21 Publication1
Metal bindingi975Magnesium or manganese 11 Publication1
Metal bindingi976Magnesium or manganese 1; via carbonyl oxygenBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri41 – 67UBZ-typeAdd BLAST27

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionEndonuclease, Exonuclease, Hydrolase, Nuclease
Biological processDNA damage, DNA repair
LigandMagnesium, Manganese, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi-associated nuclease 13 Publications (EC:3.1.21.-3 Publications, EC:3.1.4.12 Publications)
Alternative name(s):
FANCD2/FANCI-associated nuclease 13 Publications
Short name:
hFAN11 Publication
Myotubularin-related protein 15
Gene namesi
Name:FAN11 Publication
Synonyms:KIAA10181 Publication, MTMR15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000198690.9
HGNCiHGNC:29170 FAN1
MIMi613534 gene
neXtProtiNX_Q9Y2M0

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

Interstitial nephritis, karyomegalic (KMIN)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare kidney disease characterized by chronic tubulointerstitial nephritis associated with massively enlarged tubular epithelial cell nuclei. The clinical picture is associated with recurrent upper respiratory tract infections in addition to chronic kidney disease beginning in the third decade of life.
See also OMIM:614817
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_068958871C → R in KMIN; partially complement cell survival upon exposure to mitomycin C. 1 Publication1
Natural variantiVAR_068959929Q → P in KMIN. 1 Publication1
Natural variantiVAR_068960937G → D in KMIN. 1 PublicationCorresponds to variant dbSNP:rs1270571213Ensembl.1
Natural variantiVAR_068961960D → N in KMIN. 1 PublicationCorresponds to variant dbSNP:rs751703979Ensembl.1
Schizophrenia and autism. Schizophrenia is a severe psychiatric disorder characterized by positive, negative, and cognitive symptoms, and it is associated with increased mortality and severely reduced fecundity. Autim is a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.Disease susceptibility may be associated with variations affecting the gene represented in this entry.1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi44C → A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-47. 3 Publications1
Mutagenesisi47C → A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44. 2 Publications1
Mutagenesisi477L → P: Still localized to sites of DNA damage but the strength of the signal is diminished. 1 Publication1
Mutagenesisi706R → A: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-952. 1 Publication1
Mutagenesisi864Q → A: Loss of nuclease activity; when associated with A-960; A-975 and A-977. 1 Publication1
Mutagenesisi952R → A: Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-706. 1 Publication1
Mutagenesisi960D → A: Loss of nuclease activity. Loss of nuclease activity; when associated with A-864; A-975 and A-977. 3 Publications1
Mutagenesisi975E → A: Loss of nuclease activity; when associated with A-864; A-960 and A-977. 1 Publication1
Mutagenesisi977K → A: Loss of nuclease activity; when associated with A-864; A-960 and A-975. 2 Publications1
Mutagenesisi981 – 982DR → AA: Loss of nuclease activity. 1 Publication2

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi22909
MalaCardsiFAN1
MIMi614817 phenotype
OpenTargetsiENSG00000198690
Orphaneti401996 Karyomegalic interstitial nephritis
PharmGKBiPA165478601

Polymorphism and mutation databases

BioMutaiFAN1
DMDMi160410012

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003112241 – 1017Fanconi-associated nuclease 1Add BLAST1017

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei180PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated and degraded during mitotic exit by the APC/C-Cdh1 complex.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9Y2M0
PaxDbiQ9Y2M0
PeptideAtlasiQ9Y2M0
PRIDEiQ9Y2M0
ProteomicsDBi85841
85842 [Q9Y2M0-2]

PTM databases

DEPODiQ9Y2M0
iPTMnetiQ9Y2M0
PhosphoSitePlusiQ9Y2M0

Expressioni

Gene expression databases

BgeeiENSG00000198690 Expressed in 217 organ(s), highest expression level in tibia
CleanExiHS_MTMR15
ExpressionAtlasiQ9Y2M0 baseline and differential
GenevisibleiQ9Y2M0 HS

Organism-specific databases

HPAiHPA048198

Interactioni

Subunit structurei

Interacts with FANCD2 (when monoubiquitinated). Interacts with FANCI, MLH1, MLH3 and PMS2.4 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi116573, 48 interactors
IntActiQ9Y2M0, 23 interactors
STRINGi9606.ENSP00000354497

Structurei

Secondary structure

11017
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9Y2M0
SMRiQ9Y2M0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini895 – 1007VRR-NUCAdd BLAST113

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili671 – 696Sequence analysisAdd BLAST26

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi14 – 22D-boxCurated9
Motifi212 – 214KEN boxCurated3

Domaini

The UBZ-type zinc finger specifically binds monoubiquitinated FANCD2.4 Publications
The KEN box and D-box are required for interaction with FZR1/CDH1 and essential for APC(CDH1)-mediated ubiquitination.1 Publication

Sequence similaritiesi

Belongs to the FAN1 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri41 – 67UBZ-typeAdd BLAST27

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiKOG2143 Eukaryota
ENOG410XRN3 LUCA
GeneTreeiENSGT00390000018637
HOGENOMiHOG000113686
HOVERGENiHBG108156
InParanoidiQ9Y2M0
KOiK15363
OMAiNHRLVEI
OrthoDBiEOG091G033P
PhylomeDBiQ9Y2M0
TreeFamiTF312870

Family and domain databases

Gene3Di3.40.1350.10, 1 hit
InterProiView protein in InterPro
IPR033315 Fan1-like
IPR011856 tRNA_endonuc-like_dom_sf
IPR014883 VRR_NUC
IPR006642 Znf_Rad18_put
PANTHERiPTHR15749 PTHR15749, 1 hit
PfamiView protein in Pfam
PF08774 VRR_NUC, 1 hit
SMARTiView protein in SMART
SM00990 VRR_NUC, 1 hit
SM00734 ZnF_Rad18, 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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y2M0-1) [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
MMSEGKPPDK KRPRRSLSIS KNKKKASNSI ISCFNNAPPA KLACPVCSKM
60 70 80 90 100
VPRYDLNRHL DEMCANNDFV QVDPGQVGLI NSNVSMVDLT SVTLEDVTPK
110 120 130 140 150
KSPPPKTNLT PGQSDSAKRE VKQKISPYFK SNDVVCKNQD ELRNRSVKVI
160 170 180 190 200
CLGSLASKLS RKYVKAKKSI DKDEEFAGSS PQSSKSTVVK SLIDNSSEIE
210 220 230 240 250
DEDQILENSS QKENVFKCDS LKEECIPEHM VRGSKIMEAE SQKATRECEK
260 270 280 290 300
SALTPGFSDN AIMLFSPDFT LRNTLKSTSE DSLVKQECIK EVVEKREACH
310 320 330 340 350
CEEVKMTVAS EAKIQLSDSE AKSHSSADDA SAWSNIQEAP LQDDSCLNND
360 370 380 390 400
IPHSIPLEQG SSCNGPGQTT GHPYYLRSFL VVLKTVLENE DDMLLFDEQE
410 420 430 440 450
KGIVTKFYQL SATGQKLYVR LFQRKLSWIK MTKLEYEEIA LDLTPVIEEL
460 470 480 490 500
TNAGFLQTES ELQELSEVLE LLSAPELKSL AKTFHLVNPN GQKQQLVDAF
510 520 530 540 550
LKLAKQRSVC TWGKNKPGIG AVILKRAKAL AGQSVRICKG PRAVFSRILL
560 570 580 590 600
LFSLTDSMED EDAACGGQGQ LSTVLLVNLG RMEFPSYTIN RKTHIFQDRD
610 620 630 640 650
DLIRYAAATH MLSDISSAMA NGNWEEAKEL AQCAKRDWNR LKNHPSLRCH
660 670 680 690 700
EDLPLFLRCF TVGWIYTRIL SRFVEILQRL HMYEEAVREL ESLLSQRIYC
710 720 730 740 750
PDSRGRWWDR LALNLHQHLK RLEPTIKCIT EGLADPEVRT GHRLSLYQRA
760 770 780 790 800
VRLRESPSCK KFKHLFQQLP EMAVQDVKHV TITGRLCPQR GMCKSVFVME
810 820 830 840 850
AGEAADPTTV LCSVEELALA HYRRSGFDQG IHGEGSTFST LYGLLLWDII
860 870 880 890 900
FMDGIPDVFR NACQAFPLDL CTDSFFTSRR PALEARLQLI HDAPEESLRA
910 920 930 940 950
WVAATWHEQE GRVASLVSWD RFTSLQQAQD LVSCLGGPVL SGVCRHLAAD
960 970 980 990 1000
FRHCRGGLPD LVVWNSQSRH FKLVEVKGPN DRLSHKQMIW LAELQKLGAE
1010
VEVCHVVAVG AKSQSLS
Length:1,017
Mass (Da):114,225
Last modified:November 13, 2007 - v4
Checksum:i5E4E0A8A1A158F50
GO
Isoform 2 (identifier: Q9Y2M0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     527-533: AKALAGQ → FCWLLLQ
     534-1017: Missing.

Show »
Length:533
Mass (Da):59,498
Checksum:i016E3FDB6C031F95
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BQ24H3BQ24_HUMAN
Fanconi-associated nuclease
FAN1
430Annotation score:
H3BUK3H3BUK3_HUMAN
Fanconi-associated nuclease
FAN1
105Annotation score:

Sequence cautioni

The sequence AAH47882 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAA76862 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti9D → DK in AAH47882 (PubMed:15489334).Curated1
Sequence conflicti319S → P in BAF83676 (PubMed:14702039).Curated1
Sequence conflicti487V → A in BAA76862 (PubMed:10231032).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_037167233G → E1 PublicationCorresponds to variant dbSNP:rs4779794EnsemblClinVar.1
Natural variantiVAR_068958871C → R in KMIN; partially complement cell survival upon exposure to mitomycin C. 1 Publication1
Natural variantiVAR_068959929Q → P in KMIN. 1 Publication1
Natural variantiVAR_068960937G → D in KMIN. 1 PublicationCorresponds to variant dbSNP:rs1270571213Ensembl.1
Natural variantiVAR_068961960D → N in KMIN. 1 PublicationCorresponds to variant dbSNP:rs751703979Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_029429527 – 533AKALAGQ → FCWLLLQ in isoform 2. 2 Publications7
Alternative sequenceiVSP_029430534 – 1017Missing in isoform 2. 2 PublicationsAdd BLAST484

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023235 mRNA Translation: BAA76862.3 Different initiation.
AK290987 mRNA Translation: BAF83676.1
AC087481 Genomic DNA No translation available.
BC047882 mRNA Translation: AAH47882.1 Different initiation.
CCDSiCCDS32186.1 [Q9Y2M0-1]
CCDS58344.1 [Q9Y2M0-2]
RefSeqiNP_001139566.1, NM_001146094.1 [Q9Y2M0-2]
NP_001139567.1, NM_001146095.1 [Q9Y2M0-2]
NP_001139568.1, NM_001146096.1 [Q9Y2M0-2]
NP_055782.3, NM_014967.4 [Q9Y2M0-1]
XP_005254289.1, XM_005254232.4 [Q9Y2M0-1]
XP_005254291.1, XM_005254234.4 [Q9Y2M0-1]
XP_005254292.1, XM_005254235.3 [Q9Y2M0-1]
UniGeneiHs.584863
Hs.734213

Genome annotation databases

EnsembliENST00000362065; ENSP00000354497; ENSG00000198690 [Q9Y2M0-1]
ENST00000561594; ENSP00000455983; ENSG00000198690 [Q9Y2M0-2]
ENST00000561607; ENSP00000454223; ENSG00000198690 [Q9Y2M0-2]
ENST00000565466; ENSP00000454544; ENSG00000198690 [Q9Y2M0-2]
ENST00000621063; ENSP00000484956; ENSG00000276787 [Q9Y2M0-1]
GeneIDi22909
KEGGihsa:22909
UCSCiuc001zfc.3 human [Q9Y2M0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB023235 mRNA Translation: BAA76862.3 Different initiation.
AK290987 mRNA Translation: BAF83676.1
AC087481 Genomic DNA No translation available.
BC047882 mRNA Translation: AAH47882.1 Different initiation.
CCDSiCCDS32186.1 [Q9Y2M0-1]
CCDS58344.1 [Q9Y2M0-2]
RefSeqiNP_001139566.1, NM_001146094.1 [Q9Y2M0-2]
NP_001139567.1, NM_001146095.1 [Q9Y2M0-2]
NP_001139568.1, NM_001146096.1 [Q9Y2M0-2]
NP_055782.3, NM_014967.4 [Q9Y2M0-1]
XP_005254289.1, XM_005254232.4 [Q9Y2M0-1]
XP_005254291.1, XM_005254234.4 [Q9Y2M0-1]
XP_005254292.1, XM_005254235.3 [Q9Y2M0-1]
UniGeneiHs.584863
Hs.734213

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4REAX-ray3.81A/B373-1017[»]
4REBX-ray4.20A/H373-1017[»]
4RECX-ray2.20A373-1017[»]
4RI8X-ray2.90A/B370-1017[»]
4RI9X-ray2.90A/B370-1017[»]
4RIAX-ray3.00A/B370-1017[»]
4RIBX-ray3.25A/B364-1017[»]
4RICX-ray2.80A/B370-1009[»]
4RIDX-ray3.30A/B370-1009[»]
4RY3X-ray2.80A371-1010[»]
ProteinModelPortaliQ9Y2M0
SMRiQ9Y2M0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116573, 48 interactors
IntActiQ9Y2M0, 23 interactors
STRINGi9606.ENSP00000354497

PTM databases

DEPODiQ9Y2M0
iPTMnetiQ9Y2M0
PhosphoSitePlusiQ9Y2M0

Polymorphism and mutation databases

BioMutaiFAN1
DMDMi160410012

Proteomic databases

EPDiQ9Y2M0
PaxDbiQ9Y2M0
PeptideAtlasiQ9Y2M0
PRIDEiQ9Y2M0
ProteomicsDBi85841
85842 [Q9Y2M0-2]

Protocols and materials databases

DNASUi22909
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000362065; ENSP00000354497; ENSG00000198690 [Q9Y2M0-1]
ENST00000561594; ENSP00000455983; ENSG00000198690 [Q9Y2M0-2]
ENST00000561607; ENSP00000454223; ENSG00000198690 [Q9Y2M0-2]
ENST00000565466; ENSP00000454544; ENSG00000198690 [Q9Y2M0-2]
ENST00000621063; ENSP00000484956; ENSG00000276787 [Q9Y2M0-1]
GeneIDi22909
KEGGihsa:22909
UCSCiuc001zfc.3 human [Q9Y2M0-1]

Organism-specific databases

CTDi22909
DisGeNETi22909
EuPathDBiHostDB:ENSG00000198690.9
GeneCardsiFAN1
H-InvDBiHIX0012068
HGNCiHGNC:29170 FAN1
HPAiHPA048198
MalaCardsiFAN1
MIMi613534 gene
614817 phenotype
neXtProtiNX_Q9Y2M0
OpenTargetsiENSG00000198690
Orphaneti401996 Karyomegalic interstitial nephritis
PharmGKBiPA165478601
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2143 Eukaryota
ENOG410XRN3 LUCA
GeneTreeiENSGT00390000018637
HOGENOMiHOG000113686
HOVERGENiHBG108156
InParanoidiQ9Y2M0
KOiK15363
OMAiNHRLVEI
OrthoDBiEOG091G033P
PhylomeDBiQ9Y2M0
TreeFamiTF312870

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway

Miscellaneous databases

ChiTaRSiFAN1 human
GenomeRNAii22909
PROiPR:Q9Y2M0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198690 Expressed in 217 organ(s), highest expression level in tibia
CleanExiHS_MTMR15
ExpressionAtlasiQ9Y2M0 baseline and differential
GenevisibleiQ9Y2M0 HS

Family and domain databases

Gene3Di3.40.1350.10, 1 hit
InterProiView protein in InterPro
IPR033315 Fan1-like
IPR011856 tRNA_endonuc-like_dom_sf
IPR014883 VRR_NUC
IPR006642 Znf_Rad18_put
PANTHERiPTHR15749 PTHR15749, 1 hit
PfamiView protein in Pfam
PF08774 VRR_NUC, 1 hit
SMARTiView protein in SMART
SM00990 VRR_NUC, 1 hit
SM00734 ZnF_Rad18, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiFAN1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2M0
Secondary accession number(s): A8K4M2, Q86WU8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: November 13, 2007
Last modified: October 10, 2018
This is version 124 of the entry and version 4 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. 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