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UniProtKB - Q8NEY8 (PPHLN_HUMAN)

Protein

Periphilin-1

Gene

PPHLN1

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

Functioni

Component of the HUSH complex, a multiprotein complex that mediates epigenetic repression. The HUSH complex is recruited to genomic loci rich in H3K9me3 and is probably required to maintain transcriptional silencing by promoting recruitment of SETDB1, a histone methyltransferase that mediates further deposition of H3K9me3. In the HUSH complex, contributes to the maintenance of the complex at chromatin (PubMed:26022416). Acts as a transcriptional corepressor and regulates the cell cycle, probably via the HUSH complex (PubMed:15474462, PubMed:17963697). May be involved in epithelial differentiation by contributing to epidermal integrity and barrier formation (Probable).1 Publication3 Publications

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionRepressor
Biological processKeratinization, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Periphilin-11 Publication
Alternative name(s):
CDC7 expression repressor1 Publication
Short name:
CR1 Publication
Gastric cancer antigen Ga501 Publication
Gene namesi
Name:PPHLN1Imported
ORF Names:HSPC206, HSPC232
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000134283.17
HGNCiHGNC:19369 PPHLN1
MIMi608150 gene
neXtProtiNX_Q8NEY8

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

Chromosome, Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi51535
OpenTargetsiENSG00000134283
PharmGKBiPA134881011

Polymorphism and mutation databases

BioMutaiPPHLN1
DMDMi46396942

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000585371 – 458Periphilin-1Add BLAST458

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki109Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei110PhosphoserineCombined sources1
Modified residuei114PhosphoserineCombined sources1
Modified residuei133PhosphoserineCombined sources1
Modified residuei140PhosphoserineCombined sources1
Cross-linki160Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei161PhosphoserineCombined sources1
Modified residuei167PhosphoserineCombined sources1
Cross-linki180Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei197PhosphoserineCombined sources1
Cross-linki199Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei201PhosphoserineCombined sources1
Modified residuei205PhosphoserineCombined sources1
Cross-linki227Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei235N6-acetyllysine; alternateCombined sources1
Cross-linki235Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei240N6-acetyllysine; alternateCombined sources1
Cross-linki240Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2); alternateCombined sources
Modified residuei325PhosphoserineCombined sources1
Cross-linki328Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki453Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Post-translational modificationi

Substrate of transglutaminase (in vitro).1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ8NEY8
MaxQBiQ8NEY8
PaxDbiQ8NEY8
PeptideAtlasiQ8NEY8
PRIDEiQ8NEY8
ProteomicsDBi73240
73241 [Q8NEY8-2]
73242 [Q8NEY8-3]
73243 [Q8NEY8-5]
73244 [Q8NEY8-6]
73245 [Q8NEY8-7]
73246 [Q8NEY8-8]

PTM databases

iPTMnetiQ8NEY8
PhosphoSitePlusiQ8NEY8

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000134283 Expressed in 207 organ(s), highest expression level in testis
CleanExiHS_PPHLN1
ExpressionAtlasiQ8NEY8 baseline and differential
GenevisibleiQ8NEY8 HS

Organism-specific databases

HPAiHPA038902
HPA038903

Interactioni

Subunit structurei

Homodimer (PubMed:12853457). Component of the HUSH complex; at least composed of FAM208A/TASOR, PPHLN1 and MPHOSPH8 (PubMed:26022416). Interacts with SIN3A and HDAC1 (PubMed:17963697). Interacts with PPL (PubMed:12853457).3 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi119596, 69 interactors
DIPiDIP-49051N
IntActiQ8NEY8, 37 interactors
MINTiQ8NEY8
STRINGi9606.ENSP00000378935

Structurei

3D structure databases

ProteinModelPortaliQ8NEY8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi103 – 109Nuclear localization signalSequence analysis7

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi140 – 215Ser-richAdd BLAST76

Phylogenomic databases

eggNOGiENOG410IFSB Eukaryota
ENOG4111JYA LUCA
GeneTreeiENSGT00390000016228
HOVERGENiHBG053653
InParanoidiQ8NEY8
KOiK21872
OrthoDBiEOG091G0BKD
PhylomeDBiQ8NEY8
TreeFamiTF335813

Family and domain databases

InterProiView protein in InterPro
IPR028851 Pphln1
PANTHERiPTHR15836 PTHR15836, 1 hit

Sequences (8+)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NEY8-1) [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
MWSEGRYEYE RIPRERAPPR SHPSDGYNRL VNIVPKKPPL LDRPGEGSYN 
        60         70         80         90        100
RYYSHVDYRD YDEGRSFSHD RRSGPPHRGD ESGYRWTRDD HSASRQPEYR 
       110        120        130        140        150
DMRDGFRRKS FYSSHYARER SPYKRDNTFF RESPVGRKDS PHSRSGSSVS 
       160        170        180        190        200
SRSYSPERSK SYSFHQSQHR KSVRPGASYK RQNEGNPERD KERPVQSLKT 
       210        220        230        240        250
SRDTSPSSGS AVSSSKVLDK PSRLTEKELA EAASKWAAEK LEKSDESNLP 
       260        270        280        290        300
EISEYEAGST APLFTDQPEE PESNTTHGIE LFEDSQLTTR SKAIASKTKE 
       310        320        330        340        350
IEQVYRQDCE TFGMVVKMLI EKDPSLEKSI QFALRQNLHE IESAGQTWQQ 
       360        370        380        390        400
VPPVRNTEMD HDGTPENEGE ETAQSAPQPP QAPQPLQPRK KRVRRTTQLR 
       410        420        430        440        450
RTTGAPDITW GMLKKTTQEA ERILLRTQTP FTPENLFLAM LSVVHCNSRK 

DVKPENKQ
Length:458
Mass (Da):52,737
Last modified:April 13, 2004 - v2
Checksum:iFE5AAC9A6875A455
GO
Isoform 2 (identifier: Q8NEY8-2) [UniParc]FASTAAdd to basket
Also known as: CR1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAYRRDEM
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Show »
Length:374
Mass (Da):43,397
Checksum:iE21175738E0BBB10
GO
Isoform 3 (identifier: Q8NEY8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     25-79: Missing.
     376-376: A → ALFGFQHDASNHTIVGLGPNQVPEMKETTLQA

Note: No experimental confirmation available.Curated
Show »
Length:434
Mass (Da):49,655
Checksum:i125A3F59421D07F5
GO
Isoform 5 (identifier: Q8NEY8-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAYRRDEM
     25-79: Missing.
     305-306: YR → RV
     307-458: Missing.

Note: No experimental confirmation available. May be due to intron retention.
Show »
Length:258
Mass (Da):29,784
Checksum:i40A8EA59BEE07615
GO
Isoform 6 (identifier: Q8NEY8-6) [UniParc]FASTAAdd to basket
Also known as: CR-S1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAYRRDEM
     25-79: Missing.
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Show »
Length:319
Mass (Da):36,952
Checksum:i2A6B2C5E297CD8D9
GO
Isoform 7 (identifier: Q8NEY8-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-184: Missing.
     185-189: GNPER → MFSYI
     305-306: YR → RV
     307-458: Missing.

Note: No experimental confirmation available. May be due to intron retention.
Show »
Length:122
Mass (Da):13,452
Checksum:iBABAE17D379F93C2
GO
Isoform 8 (identifier: Q8NEY8-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Note: No experimental confirmation available.
Show »
Length:367
Mass (Da):42,475
Checksum:iD6CA75F0569FBCE7
GO
Isoform 9 (identifier: Q8NEY8-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     170-190: RKSVRPGASYKRQNEGNPERD → RN
     342-367: ESAGQTWQQVPPVRNTEMDHDGTPEN → GERCVEELKHFIAEYDTSTQDFGEPF
     368-458: Missing.

Note: No experimental confirmation available.
Show »
Length:348
Mass (Da):40,319
Checksum:i1730F2459FE4A5BE
GO

Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B7Z8L1B7Z8L1_HUMAN
cDNA FLJ52823, highly similar to Pe...
PPHLN1
340Annotation score:
F8W0Q9F8W0Q9_HUMAN
Periphilin-1
PPHLN1
385Annotation score:
F8W6A0F8W6A0_HUMAN
Periphilin-1
PPHLN1
363Annotation score:
F8VPY7F8VPY7_HUMAN
Periphilin-1
PPHLN1
161Annotation score:
F8VWU8F8VWU8_HUMAN
Periphilin-1
PPHLN1
168Annotation score:
F8WF16F8WF16_HUMAN
Periphilin-1
PPHLN1
303Annotation score:
F8VP48F8VP48_HUMAN
Periphilin-1
PPHLN1
52Annotation score:
F8VRK2F8VRK2_HUMAN
Periphilin-1
PPHLN1
107Annotation score:
F8VXV7F8VXV7_HUMAN
Periphilin-1
PPHLN1
37Annotation score:

Sequence cautioni

Isoform 6 : The sequence AAF36126 differs from that shown. Reason: Frameshift at positions 171, 193, 216, 243 and 257.Curated
Isoform 6 : The sequence AAF36152 differs from that shown. Reason: Frameshift at positions 191, 199 and 451.Curated
The sequence AAH25306 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti97P → L in AAF36126 (PubMed:11042152).Curated1
Sequence conflicti178S → F in AAO16497 (PubMed:12853457).Curated1
Sequence conflicti253S → P in AAF36126 (PubMed:11042152).Curated1
Sequence conflicti283E → K in AAF36126 (PubMed:11042152).Curated1
Isoform 3 (identifier: Q8NEY8-3)
Sequence conflicti341Q → P in AAH25306 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036233173V → M in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs140585847Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0098981 – 184Missing in isoform 7. 1 PublicationAdd BLAST184
Alternative sequenceiVSP_0098991M → MAYRRDEM in isoform 2, isoform 5 and isoform 6. 3 Publications1
Alternative sequenceiVSP_00990025 – 79Missing in isoform 3, isoform 5 and isoform 6. 2 PublicationsAdd BLAST55
Alternative sequenceiVSP_054078170 – 190RKSVR…NPERD → RN in isoform 9. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_009902185 – 189GNPER → MFSYI in isoform 7. 1 Publication5
Alternative sequenceiVSP_009903305 – 306YR → RV in isoform 5 and isoform 7. 2 Publications2
Alternative sequenceiVSP_009904307 – 458Missing in isoform 5 and isoform 7. 2 PublicationsAdd BLAST152
Alternative sequenceiVSP_009905342 – 367ESAGQ…GTPEN → GERCVEELKHFIAEYDTSTQ DFGEPF in isoform 2, isoform 6, isoform 8 and isoform 9. 4 PublicationsAdd BLAST26
Alternative sequenceiVSP_009906368 – 458Missing in isoform 2, isoform 6, isoform 8 and isoform 9. 4 PublicationsAdd BLAST91
Alternative sequenceiVSP_009907376A → ALFGFQHDASNHTIVGLGPN QVPEMKETTLQA in isoform 3. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY039238 mRNA Translation: AAK68657.1
AY157850 mRNA Translation: AAO16497.1
AF151040 mRNA Translation: AAF36126.1 Frameshift.
AF151066 mRNA Translation: AAF36152.1 Frameshift.
AK055690 mRNA Translation: BAB70985.1
AK000186 mRNA Translation: BAA90996.1
CR621833 mRNA No translation available.
AC020629 Genomic DNA No translation available.
AC079601 Genomic DNA No translation available.
AC079684 Genomic DNA No translation available.
BC025306 mRNA Translation: AAH25306.1 Different initiation.
BC039832 mRNA Translation: AAH39832.1
CCDSiCCDS31777.1 [Q8NEY8-1]
CCDS41773.1 [Q8NEY8-2]
CCDS44860.1 [Q8NEY8-3]
CCDS44861.1 [Q8NEY8-9]
CCDS55817.1 [Q8NEY8-6]
CCDS8741.1 [Q8NEY8-8]
RefSeqiNP_001137259.1, NM_001143787.1 [Q8NEY8-3]
NP_001137260.1, NM_001143788.1 [Q8NEY8-9]
NP_057572.5, NM_016488.6 [Q8NEY8-1]
NP_958846.1, NM_201438.1 [Q8NEY8-5]
NP_958847.1, NM_201439.1 [Q8NEY8-8]
NP_958848.1, NM_201440.1 [Q8NEY8-6]
NP_958923.1, NM_201515.1 [Q8NEY8-2]
UniGeneiHs.444157

Genome annotation databases

EnsembliENST00000358314; ENSP00000351066; ENSG00000134283 [Q8NEY8-8]
ENST00000395568; ENSP00000378935; ENSG00000134283 [Q8NEY8-1]
ENST00000395580; ENSP00000378947; ENSG00000134283 [Q8NEY8-2]
ENST00000432191; ENSP00000393965; ENSG00000134283 [Q8NEY8-3]
ENST00000449194; ENSP00000390681; ENSG00000134283 [Q8NEY8-9]
ENST00000552761; ENSP00000449331; ENSG00000134283 [Q8NEY8-6]
ENST00000610488; ENSP00000479913; ENSG00000134283 [Q8NEY8-1]
ENST00000613154; ENSP00000478872; ENSG00000134283 [Q8NEY8-9]
ENST00000619544; ENSP00000477681; ENSG00000134283 [Q8NEY8-3]
GeneIDi51535
KEGGihsa:51535
UCSCiuc001rnb.4 human [Q8NEY8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY039238 mRNA Translation: AAK68657.1
AY157850 mRNA Translation: AAO16497.1
AF151040 mRNA Translation: AAF36126.1 Frameshift.
AF151066 mRNA Translation: AAF36152.1 Frameshift.
AK055690 mRNA Translation: BAB70985.1
AK000186 mRNA Translation: BAA90996.1
CR621833 mRNA No translation available.
AC020629 Genomic DNA No translation available.
AC079601 Genomic DNA No translation available.
AC079684 Genomic DNA No translation available.
BC025306 mRNA Translation: AAH25306.1 Different initiation.
BC039832 mRNA Translation: AAH39832.1
CCDSiCCDS31777.1 [Q8NEY8-1]
CCDS41773.1 [Q8NEY8-2]
CCDS44860.1 [Q8NEY8-3]
CCDS44861.1 [Q8NEY8-9]
CCDS55817.1 [Q8NEY8-6]
CCDS8741.1 [Q8NEY8-8]
RefSeqiNP_001137259.1, NM_001143787.1 [Q8NEY8-3]
NP_001137260.1, NM_001143788.1 [Q8NEY8-9]
NP_057572.5, NM_016488.6 [Q8NEY8-1]
NP_958846.1, NM_201438.1 [Q8NEY8-5]
NP_958847.1, NM_201439.1 [Q8NEY8-8]
NP_958848.1, NM_201440.1 [Q8NEY8-6]
NP_958923.1, NM_201515.1 [Q8NEY8-2]
UniGeneiHs.444157

3D structure databases

ProteinModelPortaliQ8NEY8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119596, 69 interactors
DIPiDIP-49051N
IntActiQ8NEY8, 37 interactors
MINTiQ8NEY8
STRINGi9606.ENSP00000378935

PTM databases

iPTMnetiQ8NEY8
PhosphoSitePlusiQ8NEY8

Polymorphism and mutation databases

BioMutaiPPHLN1
DMDMi46396942

Proteomic databases

EPDiQ8NEY8
MaxQBiQ8NEY8
PaxDbiQ8NEY8
PeptideAtlasiQ8NEY8
PRIDEiQ8NEY8
ProteomicsDBi73240
73241 [Q8NEY8-2]
73242 [Q8NEY8-3]
73243 [Q8NEY8-5]
73244 [Q8NEY8-6]
73245 [Q8NEY8-7]
73246 [Q8NEY8-8]

Protocols and materials databases

DNASUi51535
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358314; ENSP00000351066; ENSG00000134283 [Q8NEY8-8]
ENST00000395568; ENSP00000378935; ENSG00000134283 [Q8NEY8-1]
ENST00000395580; ENSP00000378947; ENSG00000134283 [Q8NEY8-2]
ENST00000432191; ENSP00000393965; ENSG00000134283 [Q8NEY8-3]
ENST00000449194; ENSP00000390681; ENSG00000134283 [Q8NEY8-9]
ENST00000552761; ENSP00000449331; ENSG00000134283 [Q8NEY8-6]
ENST00000610488; ENSP00000479913; ENSG00000134283 [Q8NEY8-1]
ENST00000613154; ENSP00000478872; ENSG00000134283 [Q8NEY8-9]
ENST00000619544; ENSP00000477681; ENSG00000134283 [Q8NEY8-3]
GeneIDi51535
KEGGihsa:51535
UCSCiuc001rnb.4 human [Q8NEY8-1]

Organism-specific databases

CTDi51535
DisGeNETi51535
EuPathDBiHostDB:ENSG00000134283.17
GeneCardsiPPHLN1
HGNCiHGNC:19369 PPHLN1
HPAiHPA038902
HPA038903
MIMi608150 gene
neXtProtiNX_Q8NEY8
OpenTargetsiENSG00000134283
PharmGKBiPA134881011
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFSB Eukaryota
ENOG4111JYA LUCA
GeneTreeiENSGT00390000016228
HOVERGENiHBG053653
InParanoidiQ8NEY8
KOiK21872
OrthoDBiEOG091G0BKD
PhylomeDBiQ8NEY8
TreeFamiTF335813

Miscellaneous databases

ChiTaRSiPPHLN1 human
GeneWikiiPPHLN1
GenomeRNAii51535
PROiPR:Q8NEY8
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134283 Expressed in 207 organ(s), highest expression level in testis
CleanExiHS_PPHLN1
ExpressionAtlasiQ8NEY8 baseline and differential
GenevisibleiQ8NEY8 HS

Family and domain databases

InterProiView protein in InterPro
IPR028851 Pphln1
PANTHERiPTHR15836 PTHR15836, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPPHLN_HUMAN
AccessioniPrimary (citable) accession number: Q8NEY8
Secondary accession number(s): E9PAX8
, Q86YT2, Q8IXN3, Q8TB09, Q96NB9, Q9NXL4, Q9P0P6, Q9P0R9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 13, 2004
Last sequence update: April 13, 2004
Last modified: November 7, 2018
This is version 138 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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