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Protein

YY1-associated protein 1

Gene

YY1AP1

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

Functioni

Associates with the INO80 chromatin remodeling complex, which is responsible for transcriptional regulation, DNA repair, and replication (PubMed:27939641). Enhances transcription activation by YY1 (PubMed:14744866). Plays a role in cell cycle regulation (PubMed:17541814, PubMed:27939641).3 Publications

GO - Biological processi

  • cell differentiation Source: UniProtKB
  • cell proliferation Source: UniProtKB
  • regulation of cell cycle Source: UniProtKB

Keywordsi

Biological processTranscription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
YY1-associated protein 11 Publication
Alternative name(s):
Hepatocellular carcinoma susceptibility protein1 Publication
Hepatocellular carcinoma-associated protein 21 Publication
Gene namesi
Name:YY1AP1Imported
Synonyms:HCCA21 Publication, YY1AP1 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000163374.19
HGNCiHGNC:30935 YY1AP1
MIMi607860 gene
neXtProtiNX_Q9H869

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

Grange syndrome (GRNG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome of stenosis or occlusion of multiple arteries, including renal, abdominal, cerebral and probably coronary arteries, congenital heart defects, brachydactyly, syndactyly, bone fragility, and learning disabilities.
See also OMIM:602531
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078760150 – 796Missing in GRNG. 1 PublicationAdd BLAST647
Natural variantiVAR_078761170 – 796Missing in GRNG. 1 PublicationAdd BLAST627
Natural variantiVAR_078762705 – 796Missing in GRNG. 1 PublicationAdd BLAST92
Natural variantiVAR_078763709 – 796Missing in GRNG. 1 PublicationAdd BLAST88

Organism-specific databases

DisGeNETi55249
MalaCardsiYY1AP1
MIMi602531 phenotype
OpenTargetsiENSG00000163374
Orphaneti79094 Grange syndrome
PharmGKBiPA142670546

Polymorphism and mutation databases

BioMutaiYY1AP1
DMDMi147744601

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000763691 – 796YY1-associated protein 1Add BLAST796

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei724PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9H869
PaxDbiQ9H869
PeptideAtlasiQ9H869
PRIDEiQ9H869
ProteomicsDBi81188
81189 [Q9H869-2]
81190 [Q9H869-3]
81191 [Q9H869-4]
81192 [Q9H869-5]
81193 [Q9H869-6]
81194 [Q9H869-7]

PTM databases

iPTMnetiQ9H869
PhosphoSitePlusiQ9H869

Expressioni

Tissue specificityi

Ubiquitous. Detected in small intestine, skeletal muscle, lung, pancreas, brain, stomach, spleen, colon and heart. Detected at very low levels in healthy liver. Highly expressed in most liver carcinomas.3 Publications

Gene expression databases

BgeeiENSG00000163374 Expressed in 230 organ(s), highest expression level in testis
ExpressionAtlasiQ9H869 baseline and differential
GenevisibleiQ9H869 HS

Organism-specific databases

HPAiHPA006986
HPA064249

Interactioni

Subunit structurei

Interacts with YY1. Interacts with MAD2L2. Interacts with INO80.3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi120540, 33 interactors
IntActiQ9H869, 18 interactors
MINTiQ9H869
STRINGi9606.ENSP00000357323

Structurei

3D structure databases

ProteinModelPortaliQ9H869
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiENOG410JQ2S Eukaryota
ENOG410XS4M LUCA
GeneTreeiENSGT00390000016256
HOGENOMiHOG000038018
HOVERGENiHBG074061
InParanoidiQ9H869
OMAiTSFICPL
OrthoDBiEOG091G02EQ
PhylomeDBiQ9H869
TreeFamiTF343327

Family and domain databases

InterProiView protein in InterPro
IPR033274 YY1AP1
PANTHERiPTHR16088:SF9 PTHR16088:SF9, 1 hit

Sequences (9+)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 9 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H869-1) [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
MEEEASRSAA ATNPGSRLTR WPPPDKREGS AVDPGKRRSL AATPSSSLPC
60 70 80 90 100
TLIALGLRHE KEANELMEDL FETFQDEMGF SNMEDDGPEE EERVAEPQAN
110 120 130 140 150
FNTPQALRFE ELLANLLNEQ HQIAKELFEQ LKMKKPSAKQ QKEVEKVKPQ
160 170 180 190 200
CKEVHQTLIL DPAQRKRLQQ QMQQHVQLLT QIHLLATCNP NLNPEASSTR
210 220 230 240 250
ICLKELGTFA QSSIALHHQY NPKFQTLFQP CNLMGAMQLI EDFSTHVSID
260 270 280 290 300
CSPHKTVKKT ANEFPCLPKQ VAWILATSKV FMYPELLPVC SLKAKNPQDK
310 320 330 340 350
ILFTKAEDNK YLLTCKTARQ LTVRIKNLNM NRAPDNIIKF YKKTKQLPVL
360 370 380 390 400
GKCCEEIQPH QWKPPIEREE HRLPFWLKAS LPSIQEELRH MADGAREVGN
410 420 430 440 450
MTGTTEINSD QGLEKDNSEL GSETRYPLLL PKGVVLKLKP VADRFPKKAW
460 470 480 490 500
RQKRSSVLKP LLIQPSPSLQ PSFNPGKTPA QSTHSEAPPS KMVLRIPHPI
510 520 530 540 550
QPATVLQTVP GVPPLGVSGG ESFESPAALP AMPPEARTSF PLSESQTLLS
560 570 580 590 600
SAPVPKVMMP SPASSMFRKP YVRRRPSKRR GARAFRCIKP APVIHPASVI
610 620 630 640 650
FTVPATTVKI VSLGGGCNMI QPVNAAVAQS PQTIPIATLL VNPTSFPCPL
660 670 680 690 700
NQPLVASSVS PLIVSGNSVN LPIPSTPEDK AHMNVDIACA VADGENAFQG
710 720 730 740 750
LEPKLEPQEL SPLSATVFPK VEHSPGPPPV DKQCQEGLSE NSAYRWTVVK
760 770 780 790
TEEGRQALEP LPQGIQESLN NSSPGDLEEV VKMEPEDATE EISGFL
Length:796
Mass (Da):87,944
Last modified:May 15, 2007 - v2
Checksum:iA2FC8B4DBA8DFDA7
GO
Isoform 2 (identifier: Q9H869-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: Missing.
     309-309: N → NLLALGLKHFEGTEFLNPLIS

Show »
Length:750
Mass (Da):83,088
Checksum:i35A05C3146FC95D7
GO
Isoform 3 (identifier: Q9H869-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     309-309: N → NLLALGLKHFEGTEFLNPLIS

Show »
Length:739
Mass (Da):81,702
Checksum:iAEE39032FCC83A53
GO
Isoform 4 (identifier: Q9H869-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-66: Missing.

Show »
Length:730
Mass (Da):80,893
Checksum:i3A7B22D694AE7E0B
GO
Isoform 5 (identifier: Q9H869-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-132: Missing.
     309-309: N → NLLALGLKHFEGTEFLNPLIS

Show »
Length:684
Mass (Da):75,330
Checksum:iE2F9E4BEAB76E3D5
GO
Isoform 6 (identifier: Q9H869-6) [UniParc]FASTAAdd to basket
Also known as: HCCA1

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.

Show »
Length:719
Mass (Da):79,508
Checksum:i3C3288D1B4E1CEF2
GO
Isoform 7 (identifier: Q9H869-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-329: Missing.

Show »
Length:467
Mass (Da):50,634
Checksum:i8A0B641CD01FAEC3
GO
Isoform 8 (identifier: Q9H869-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MEEEASRSAAATNPG → MAGVGRSGGP...LSLLLSRISA

Note: No experimental confirmation available.
Show »
Length:868
Mass (Da):95,521
Checksum:i07F36903760F9C75
GO
Isoform 9 (identifier: Q9H869-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-15: MEEEASRSAAATNPG → MAGVGRSGGP...LSLLLSRISA
     309-309: N → NLLALGLKHFEGTEFLNPLIS

Note: No experimental confirmation available.
Show »
Length:888
Mass (Da):97,716
Checksum:i237B12A7917D6593
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B0QZ55B0QZ55_HUMAN
YY1-associated protein 1
YY1AP1
495Annotation score:
Q68CT8Q68CT8_HUMAN
YY1-associated protein 1
YY1AP1 DKFZp686J14104
165Annotation score:
A3KFK1A3KFK1_HUMAN
YY1-associated protein 1
YY1AP1
206Annotation score:
B4DZQ4B4DZQ4_HUMAN
cDNA FLJ59159, highly similar to YY...
YY1AP1
196Annotation score:
A3KFK2A3KFK2_HUMAN
YY1-associated protein 1
YY1AP1
194Annotation score:
F8WD62F8WD62_HUMAN
YY1-associated protein 1
YY1AP1
48Annotation score:

Sequence cautioni

The sequence BAA91871 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti27R → Q in BAB14748 (PubMed:14702039).Curated1
Sequence conflicti498H → R in BAG59954 (PubMed:14702039).Curated1
Sequence conflicti541P → L (PubMed:11710830).Curated1
Sequence conflicti553P → L in AAH01655 (PubMed:15489334).Curated1
Sequence conflicti553P → L in AAH01843 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078760150 – 796Missing in GRNG. 1 PublicationAdd BLAST647
Natural variantiVAR_078761170 – 796Missing in GRNG. 1 PublicationAdd BLAST627
Natural variantiVAR_051497412G → S. Corresponds to variant dbSNP:rs35098429Ensembl.1
Natural variantiVAR_078762705 – 796Missing in GRNG. 1 PublicationAdd BLAST92
Natural variantiVAR_078763709 – 796Missing in GRNG. 1 PublicationAdd BLAST88
Natural variantiVAR_051498786E → Q. Corresponds to variant dbSNP:rs7539Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0165851 – 329Missing in isoform 7. 1 PublicationAdd BLAST329
Alternative sequenceiVSP_0165861 – 132Missing in isoform 5. 1 PublicationAdd BLAST132
Alternative sequenceiVSP_0165871 – 77Missing in isoform 3 and isoform 6. 3 PublicationsAdd BLAST77
Alternative sequenceiVSP_0165881 – 66Missing in isoform 2 and isoform 4. 2 PublicationsAdd BLAST66
Alternative sequenceiVSP_0468581 – 15MEEEA…ATNPG → MAGVGRSGGPWGRTRGGRSG RLGVSLGALSSLPLEELPRP LCCRRCRRHFGFALRGETIP VSVAGSASSQFAPLALHLSL LLSRISA in isoform 8 and isoform 9. 2 PublicationsAdd BLAST15
Alternative sequenceiVSP_016589309N → NLLALGLKHFEGTEFLNPLI S in isoform 2, isoform 3, isoform 5 and isoform 9. 3 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF206328 mRNA Translation: AAL74055.1
AF466401 mRNA Translation: AAL75971.1
AF203474 mRNA Translation: AAO13249.1
AY604179 mRNA Translation: AAT34990.1
AK001737 mRNA Translation: BAA91871.1 Different initiation.
AK023976 mRNA Translation: BAB14748.1
AK297562 mRNA Translation: BAG59954.1
AK303386 mRNA Translation: BAG64442.1
AL162734 Genomic DNA No translation available.
BX088689 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53052.1
CH471121 Genomic DNA Translation: EAW53055.1
CH471121 Genomic DNA Translation: EAW53056.1
CH471121 Genomic DNA Translation: EAW53057.1
CH471121 Genomic DNA Translation: EAW53060.1
BC001655 mRNA Translation: AAH01655.2
BC001843 mRNA Translation: AAH01843.2
BC003500 mRNA No translation available.
BC008766 mRNA Translation: AAH08766.2
BC009358 mRNA Translation: AAH09358.2
BC014906 mRNA Translation: AAH14906.1
BC025272 mRNA No translation available.
CCDSiCCDS1115.1 [Q9H869-1]
CCDS1116.1 [Q9H869-2]
CCDS55643.1 [Q9H869-4]
CCDS55644.1 [Q9H869-8]
CCDS55645.1 [Q9H869-9]
RefSeqiNP_001185828.1, NM_001198899.1 [Q9H869-3]
NP_001185829.1, NM_001198900.1 [Q9H869-3]
NP_001185830.1, NM_001198901.1 [Q9H869-2]
NP_001185831.1, NM_001198902.1 [Q9H869-2]
NP_001185832.1, NM_001198903.1 [Q9H869-9]
NP_001185833.1, NM_001198904.1 [Q9H869-8]
NP_001185834.1, NM_001198905.1 [Q9H869-4]
NP_001185835.1, NM_001198906.1
NP_060723.2, NM_018253.3 [Q9H869-3]
NP_620829.1, NM_139118.2 [Q9H869-1]
NP_620830.1, NM_139119.2 [Q9H869-2]
NP_620832.1, NM_139121.2 [Q9H869-5]
UniGeneiHs.584927

Genome annotation databases

EnsembliENST00000295566; ENSP00000295566; ENSG00000163374 [Q9H869-1]
ENST00000311573; ENSP00000311138; ENSG00000163374 [Q9H869-6]
ENST00000347088; ENSP00000316079; ENSG00000163374 [Q9H869-2]
ENST00000355499; ENSP00000347686; ENSG00000163374 [Q9H869-2]
ENST00000359205; ENSP00000352134; ENSG00000163374 [Q9H869-3]
ENST00000361831; ENSP00000355298; ENSG00000163374 [Q9H869-3]
ENST00000368330; ENSP00000357314; ENSG00000163374 [Q9H869-2]
ENST00000368339; ENSP00000357323; ENSG00000163374 [Q9H869-9]
ENST00000368340; ENSP00000357324; ENSG00000163374 [Q9H869-8]
ENST00000404643; ENSP00000385390; ENSG00000163374 [Q9H869-4]
ENST00000407221; ENSP00000385791; ENSG00000163374 [Q9H869-6]
GeneIDi55249
KEGGihsa:55249
UCSCiuc001flh.4 human [Q9H869-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF206328 mRNA Translation: AAL74055.1
AF466401 mRNA Translation: AAL75971.1
AF203474 mRNA Translation: AAO13249.1
AY604179 mRNA Translation: AAT34990.1
AK001737 mRNA Translation: BAA91871.1 Different initiation.
AK023976 mRNA Translation: BAB14748.1
AK297562 mRNA Translation: BAG59954.1
AK303386 mRNA Translation: BAG64442.1
AL162734 Genomic DNA No translation available.
BX088689 Genomic DNA No translation available.
CH471121 Genomic DNA Translation: EAW53052.1
CH471121 Genomic DNA Translation: EAW53055.1
CH471121 Genomic DNA Translation: EAW53056.1
CH471121 Genomic DNA Translation: EAW53057.1
CH471121 Genomic DNA Translation: EAW53060.1
BC001655 mRNA Translation: AAH01655.2
BC001843 mRNA Translation: AAH01843.2
BC003500 mRNA No translation available.
BC008766 mRNA Translation: AAH08766.2
BC009358 mRNA Translation: AAH09358.2
BC014906 mRNA Translation: AAH14906.1
BC025272 mRNA No translation available.
CCDSiCCDS1115.1 [Q9H869-1]
CCDS1116.1 [Q9H869-2]
CCDS55643.1 [Q9H869-4]
CCDS55644.1 [Q9H869-8]
CCDS55645.1 [Q9H869-9]
RefSeqiNP_001185828.1, NM_001198899.1 [Q9H869-3]
NP_001185829.1, NM_001198900.1 [Q9H869-3]
NP_001185830.1, NM_001198901.1 [Q9H869-2]
NP_001185831.1, NM_001198902.1 [Q9H869-2]
NP_001185832.1, NM_001198903.1 [Q9H869-9]
NP_001185833.1, NM_001198904.1 [Q9H869-8]
NP_001185834.1, NM_001198905.1 [Q9H869-4]
NP_001185835.1, NM_001198906.1
NP_060723.2, NM_018253.3 [Q9H869-3]
NP_620829.1, NM_139118.2 [Q9H869-1]
NP_620830.1, NM_139119.2 [Q9H869-2]
NP_620832.1, NM_139121.2 [Q9H869-5]
UniGeneiHs.584927

3D structure databases

ProteinModelPortaliQ9H869
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120540, 33 interactors
IntActiQ9H869, 18 interactors
MINTiQ9H869
STRINGi9606.ENSP00000357323

PTM databases

iPTMnetiQ9H869
PhosphoSitePlusiQ9H869

Polymorphism and mutation databases

BioMutaiYY1AP1
DMDMi147744601

Proteomic databases

MaxQBiQ9H869
PaxDbiQ9H869
PeptideAtlasiQ9H869
PRIDEiQ9H869
ProteomicsDBi81188
81189 [Q9H869-2]
81190 [Q9H869-3]
81191 [Q9H869-4]
81192 [Q9H869-5]
81193 [Q9H869-6]
81194 [Q9H869-7]

Protocols and materials databases

DNASUi55249
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000295566; ENSP00000295566; ENSG00000163374 [Q9H869-1]
ENST00000311573; ENSP00000311138; ENSG00000163374 [Q9H869-6]
ENST00000347088; ENSP00000316079; ENSG00000163374 [Q9H869-2]
ENST00000355499; ENSP00000347686; ENSG00000163374 [Q9H869-2]
ENST00000359205; ENSP00000352134; ENSG00000163374 [Q9H869-3]
ENST00000361831; ENSP00000355298; ENSG00000163374 [Q9H869-3]
ENST00000368330; ENSP00000357314; ENSG00000163374 [Q9H869-2]
ENST00000368339; ENSP00000357323; ENSG00000163374 [Q9H869-9]
ENST00000368340; ENSP00000357324; ENSG00000163374 [Q9H869-8]
ENST00000404643; ENSP00000385390; ENSG00000163374 [Q9H869-4]
ENST00000407221; ENSP00000385791; ENSG00000163374 [Q9H869-6]
GeneIDi55249
KEGGihsa:55249
UCSCiuc001flh.4 human [Q9H869-1]

Organism-specific databases

CTDi55249
DisGeNETi55249
EuPathDBiHostDB:ENSG00000163374.19
GeneCardsiYY1AP1
H-InvDBiHIX0028706
HGNCiHGNC:30935 YY1AP1
HPAiHPA006986
HPA064249
MalaCardsiYY1AP1
MIMi602531 phenotype
607860 gene
neXtProtiNX_Q9H869
OpenTargetsiENSG00000163374
Orphaneti79094 Grange syndrome
PharmGKBiPA142670546
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410JQ2S Eukaryota
ENOG410XS4M LUCA
GeneTreeiENSGT00390000016256
HOGENOMiHOG000038018
HOVERGENiHBG074061
InParanoidiQ9H869
OMAiTSFICPL
OrthoDBiEOG091G02EQ
PhylomeDBiQ9H869
TreeFamiTF343327

Miscellaneous databases

ChiTaRSiYY1AP1 human
GeneWikiiYY1AP1
GenomeRNAii55249
PROiPR:Q9H869
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000163374 Expressed in 230 organ(s), highest expression level in testis
ExpressionAtlasiQ9H869 baseline and differential
GenevisibleiQ9H869 HS

Family and domain databases

InterProiView protein in InterPro
IPR033274 YY1AP1
PANTHERiPTHR16088:SF9 PTHR16088:SF9, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiYYAP1_HUMAN
AccessioniPrimary (citable) accession number: Q9H869
Secondary accession number(s): B0QZ54
, B4DMP2, B4E0I0, D3DV96, D3DV98, H7BY62, Q5VYZ1, Q5VYZ4, Q5VYZ7, Q7L4C3, Q7L5E2, Q8IXA6, Q8TEW5, Q8TF04, Q96HB6, Q9BQ64, Q9NV84
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 20, 2005
Last sequence update: May 15, 2007
Last modified: November 7, 2018
This is version 123 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  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
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