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Protein

Peroxisomal targeting signal 1 receptor

Gene

PEX5

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

Functioni

Binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import.3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processProtein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiP50542

Names & Taxonomyi

Protein namesi
Recommended name:
Peroxisomal targeting signal 1 receptor
Short name:
PTS1 receptor
Short name:
PTS1R
Alternative name(s):
PTS1-BP
Peroxin-5
Peroxisomal C-terminal targeting signal import receptor
Peroxisome receptor 1
Gene namesi
Name:PEX5
Synonyms:PXR1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139197.10
HGNCiHGNC:9719 PEX5
MIMi600414 gene
neXtProtiNX_P50542

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, Membrane, Peroxisome

Pathology & Biotechi

Involvement in diseasei

Peroxisome biogenesis disorder 2A (PBD2A)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and characterized clinically by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life.
See also OMIM:214110
Peroxisome biogenesis disorder 2B (PBD2B)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.
See also OMIM:202370
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007543526N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 PublicationsCorresponds to variant dbSNP:rs61752138EnsemblClinVar.1
Natural variantiVAR_031328600S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication1
Rhizomelic chondrodysplasia punctata 5 (RCDP5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.
See also OMIM:616716

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi118W → A: Strongly reduced interaction with PEX14. 1 Publication1
Mutagenesisi122F → A: Strongly reduced interaction with PEX14. 1 Publication1

Keywords - Diseasei

Disease mutation, Peroxisome biogenesis disorder, Rhizomelic chondrodysplasia punctata, Zellweger syndrome

Organism-specific databases

DisGeNETi5830
GeneReviewsiPEX5
MalaCardsiPEX5
MIMi202370 phenotype
214110 phenotype
616716 phenotype
OpenTargetsiENSG00000139197
Orphaneti772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
912 Zellweger syndrome
PharmGKBiPA34063

Polymorphism and mutation databases

BioMutaiPEX5
DMDMi119364633

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001063051 – 639Peroxisomal targeting signal 1 receptorAdd BLAST639

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki11Glycyl cysteine thioester (Cys-Gly) (interchain with G-Cter in ubiquitin)By similarity
Modified residuei115PhosphoserineCombined sources1
Modified residuei153PhosphoserineCombined sources1
Modified residuei155PhosphoserineCombined sources1
Modified residuei167PhosphoserineCombined sources1
Modified residuei279PhosphoserineCombined sources1

Post-translational modificationi

Monoubiquitination at Cys-11 is required for proper export from peroxisomes and recycling.By similarity

Keywords - PTMi

Phosphoprotein, Thioester bond, Ubl conjugation

Proteomic databases

EPDiP50542
MaxQBiP50542
PaxDbiP50542
PeptideAtlasiP50542
PRIDEiP50542
ProteomicsDBi56239
56240 [P50542-2]
56241 [P50542-3]
56242 [P50542-4]

PTM databases

iPTMnetiP50542
PhosphoSitePlusiP50542

Expressioni

Tissue specificityi

Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.3 Publications

Gene expression databases

BgeeiENSG00000139197 Expressed in 230 organ(s), highest expression level in medial globus pallidus
CleanExiHS_PEX5
ExpressionAtlasiP50542 baseline and differential
GenevisibleiP50542 HS

Organism-specific databases

HPAiHPA039259
HPA039260

Interactioni

Subunit structurei

Interacts with PEX7 and PEX13 (By similarity). Interacts with PEX12 and PEX14. Interacts (Cys-linked ubiquitinated) with ZFAND6.By similarity6 Publications

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi111788, 90 interactors
DIPiDIP-34654N
ELMiP50542
IntActiP50542, 56 interactors
MINTiP50542
STRINGi9606.ENSP00000407401

Structurei

Secondary structure

1639
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

DisProtiDP00472
ProteinModelPortaliP50542
SMRiP50542
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP50542

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati335 – 368TPR 1Add BLAST34
Repeati369 – 402TPR 2Add BLAST34
Repeati403 – 436TPR 3Add BLAST34
Repeati452 – 485TPR 4Add BLAST34
Repeati488 – 521TPR 5Add BLAST34
Repeati522 – 555TPR 6Add BLAST34
Repeati556 – 589TPR 7Add BLAST34

Sequence similaritiesi

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

eggNOGiKOG1125 Eukaryota
ENOG410XQ6Q LUCA
GeneTreeiENSGT00390000013941
HOGENOMiHOG000158146
HOVERGENiHBG053575
InParanoidiP50542
KOiK13342
PhylomeDBiP50542
TreeFamiTF315044

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR024113 PTS1R
IPR024111 PTS1R_family
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR10130 PTHR10130, 1 hit
PTHR10130:SF2 PTHR10130:SF2, 1 hit
PfamiView protein in Pfam
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 4 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 5 hits
PS50293 TPR_REGION, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 12 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P50542-1) [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
MAMRELVEAE CGGANPLMKL AGHFTQDKAL RQEGLRPGPW PPGAPASEAA
60 70 80 90 100
SKPLGVASED ELVAEFLQDQ NAPLVSRAPQ TFKMDDLLAE MQQIEQSNFR
110 120 130 140 150
QAPQRAPGVA DLALSENWAQ EFLAAGDAVD VTQDYNETDW SQEFISEVTD
160 170 180 190 200
PLSVSPARWA EEYLEQSEEK LWLGEPEGTA TDRWYDEYHP EEDLQHTASD
210 220 230 240 250
FVAKVDDPKL ANSEFLKFVR QIGEGQVSLE SGAGSGRAQA EQWAAEFIQQ
260 270 280 290 300
QGTSDAWVDQ FTRPVNTSAL DMEFERAKSA IESDVDFWDK LQAELEEMAK
310 320 330 340 350
RDAEAHPWLS DYDDLTSATY DKGYQFEEEN PLRDHPQPFE EGLRRLQEGD
360 370 380 390 400
LPNAVLLFEA AVQQDPKHME AWQYLGTTQA ENEQELLAIS ALRRCLELKP
410 420 430 440 450
DNQTALMALA VSFTNESLQR QACETLRDWL RYTPAYAHLV TPAEEGAGGA
460 470 480 490 500
GLGPSKRILG SLLSDSLFLE VKELFLAAVR LDPTSIDPDV QCGLGVLFNL
510 520 530 540 550
SGEYDKAVDC FTAALSVRPN DYLLWNKLGA TLANGNQSEE AVAAYRRALE
560 570 580 590 600
LQPGYIRSRY NLGISCINLG AHREAVEHFL EALNMQRKSR GPRGEGGAMS
610 620 630
ENIWSTLRLA LSMLGQSDAY GAADARDLST LLTMFGLPQ
Length:639
Mass (Da):70,865
Last modified:December 12, 2006 - v3
Checksum:i9D6951F58AED31AC
GO
Isoform 2 (identifier: P50542-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     215-251: Missing.

Show »
Length:602
Mass (Da):66,830
Checksum:iEA4E6FAAF5E11C55
GO
Isoform 3 (identifier: P50542-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     283-290: Missing.

Show »
Length:631
Mass (Da):69,872
Checksum:i9F3B705D888C484B
GO
Isoform 4 (identifier: P50542-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     45-45: P → PASEAVSVLEVESPGA

Note: No experimental confirmation available.
Show »
Length:654
Mass (Da):72,291
Checksum:iCF2055CBD6902BFE
GO

Computationally mapped potential isoform sequencesi

There are 12 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
B4E0T2B4E0T2_HUMAN
cDNA FLJ56404, highly similar to Pe...
PEX5
660Annotation score:
J3KPV0J3KPV0_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
410Annotation score:
F5H3X7F5H3X7_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
248Annotation score:
F5H5C0F5H5C0_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
272Annotation score:
F5GYB4F5GYB4_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
128Annotation score:
F5GZ41F5GZ41_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
115Annotation score:
F5H0L9F5H0L9_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
118Annotation score:
F5H432F5H432_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
102Annotation score:
F5H205F5H205_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
114Annotation score:
F5H637F5H637_HUMAN
Peroxisomal targeting signal 1 rece...
PEX5
168Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti425T → I in AAC50103 (PubMed:7719337).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007543526N → K in PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import. 2 PublicationsCorresponds to variant dbSNP:rs61752138EnsemblClinVar.1
Natural variantiVAR_031328600S → W in PBD2B; infantile Refsum disease; mildly affects peroxisomal protein import. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04363945P → PASEAVSVLEVESPGA in isoform 4. 1 Publication1
Alternative sequenceiVSP_021880215 – 251Missing in isoform 2. 3 PublicationsAdd BLAST37
Alternative sequenceiVSP_024106283 – 290Missing in isoform 3. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19721 mRNA Translation: AAC50103.1
Z48054 mRNA Translation: CAA88131.1
X84899 mRNA Translation: CAA59324.1
AK292256 mRNA Translation: BAF84945.1
AK302742 mRNA Translation: BAG63957.1
AK316250 mRNA Translation: BAH14621.1
AC018653 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88671.1
CH471116 Genomic DNA Translation: EAW88674.1
CH471116 Genomic DNA Translation: EAW88672.1
BC010621 mRNA Translation: AAH10621.1
CCDSiCCDS44822.1 [P50542-4]
CCDS44823.1 [P50542-1]
CCDS44824.1 [P50542-2]
CCDS8576.1 [P50542-3]
PIRiA56126
RefSeqiNP_000310.2, NM_000319.4 [P50542-3]
NP_001124495.1, NM_001131023.1 [P50542-4]
NP_001124496.1, NM_001131024.1 [P50542-2]
NP_001124497.1, NM_001131025.1 [P50542-1]
NP_001124498.1, NM_001131026.1 [P50542-1]
XP_011519097.1, XM_011520795.1 [P50542-4]
XP_011519099.1, XM_011520797.1
XP_011519100.1, XM_011520798.1
XP_011519101.1, XM_011520799.2
XP_011519102.1, XM_011520800.1
XP_016875237.1, XM_017019748.1 [P50542-4]
XP_016875238.1, XM_017019749.1 [P50542-1]
XP_016875239.1, XM_017019750.1 [P50542-3]
XP_016875241.1, XM_017019752.1
XP_016875242.1, XM_017019753.1
XP_016875243.1, XM_017019754.1
XP_016875244.1, XM_017019755.1
UniGeneiHs.567327

Genome annotation databases

EnsembliENST00000266563; ENSP00000266563; ENSG00000139197 [P50542-2]
ENST00000266564; ENSP00000266564; ENSG00000139197 [P50542-3]
ENST00000420616; ENSP00000410159; ENSG00000139197 [P50542-1]
ENST00000434354; ENSP00000407401; ENSG00000139197 [P50542-4]
ENST00000455147; ENSP00000400647; ENSG00000139197 [P50542-1]
GeneIDi5830
KEGGihsa:5830
UCSCiuc001qsu.4 human [P50542-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U19721 mRNA Translation: AAC50103.1
Z48054 mRNA Translation: CAA88131.1
X84899 mRNA Translation: CAA59324.1
AK292256 mRNA Translation: BAF84945.1
AK302742 mRNA Translation: BAG63957.1
AK316250 mRNA Translation: BAH14621.1
AC018653 Genomic DNA No translation available.
CH471116 Genomic DNA Translation: EAW88671.1
CH471116 Genomic DNA Translation: EAW88674.1
CH471116 Genomic DNA Translation: EAW88672.1
BC010621 mRNA Translation: AAH10621.1
CCDSiCCDS44822.1 [P50542-4]
CCDS44823.1 [P50542-1]
CCDS44824.1 [P50542-2]
CCDS8576.1 [P50542-3]
PIRiA56126
RefSeqiNP_000310.2, NM_000319.4 [P50542-3]
NP_001124495.1, NM_001131023.1 [P50542-4]
NP_001124496.1, NM_001131024.1 [P50542-2]
NP_001124497.1, NM_001131025.1 [P50542-1]
NP_001124498.1, NM_001131026.1 [P50542-1]
XP_011519097.1, XM_011520795.1 [P50542-4]
XP_011519099.1, XM_011520797.1
XP_011519100.1, XM_011520798.1
XP_011519101.1, XM_011520799.2
XP_011519102.1, XM_011520800.1
XP_016875237.1, XM_017019748.1 [P50542-4]
XP_016875238.1, XM_017019749.1 [P50542-1]
XP_016875239.1, XM_017019750.1 [P50542-3]
XP_016875241.1, XM_017019752.1
XP_016875242.1, XM_017019753.1
XP_016875243.1, XM_017019754.1
XP_016875244.1, XM_017019755.1
UniGeneiHs.567327

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1FCHX-ray2.20A/B272-639[»]
2C0LX-ray2.30A335-639[»]
2C0MX-ray2.50A/B/C/F321-639[»]
2J9QX-ray2.65A/B315-639[»]
2W84NMR-B108-127[»]
3R9AX-ray2.35B/D315-639[»]
4BXUNMR-B57-71[»]
4KXKX-ray2.90B/D315-639[»]
4KYOX-ray2.20B/D315-639[»]
DisProtiDP00472
ProteinModelPortaliP50542
SMRiP50542
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111788, 90 interactors
DIPiDIP-34654N
ELMiP50542
IntActiP50542, 56 interactors
MINTiP50542
STRINGi9606.ENSP00000407401

PTM databases

iPTMnetiP50542
PhosphoSitePlusiP50542

Polymorphism and mutation databases

BioMutaiPEX5
DMDMi119364633

Proteomic databases

EPDiP50542
MaxQBiP50542
PaxDbiP50542
PeptideAtlasiP50542
PRIDEiP50542
ProteomicsDBi56239
56240 [P50542-2]
56241 [P50542-3]
56242 [P50542-4]

Protocols and materials databases

DNASUi5830
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266563; ENSP00000266563; ENSG00000139197 [P50542-2]
ENST00000266564; ENSP00000266564; ENSG00000139197 [P50542-3]
ENST00000420616; ENSP00000410159; ENSG00000139197 [P50542-1]
ENST00000434354; ENSP00000407401; ENSG00000139197 [P50542-4]
ENST00000455147; ENSP00000400647; ENSG00000139197 [P50542-1]
GeneIDi5830
KEGGihsa:5830
UCSCiuc001qsu.4 human [P50542-1]

Organism-specific databases

CTDi5830
DisGeNETi5830
EuPathDBiHostDB:ENSG00000139197.10
GeneCardsiPEX5
GeneReviewsiPEX5
HGNCiHGNC:9719 PEX5
HPAiHPA039259
HPA039260
MalaCardsiPEX5
MIMi202370 phenotype
214110 phenotype
600414 gene
616716 phenotype
neXtProtiNX_P50542
OpenTargetsiENSG00000139197
Orphaneti772 Infantile Refsum disease
44 Neonatal adrenoleukodystrophy
912 Zellweger syndrome
PharmGKBiPA34063
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1125 Eukaryota
ENOG410XQ6Q LUCA
GeneTreeiENSGT00390000013941
HOGENOMiHOG000158146
HOVERGENiHBG053575
InParanoidiP50542
KOiK13342
PhylomeDBiP50542
TreeFamiTF315044

Enzyme and pathway databases

ReactomeiR-HSA-8866654 E3 ubiquitin ligases ubiquitinate target proteins
R-HSA-9033241 Peroxisomal protein import
SIGNORiP50542

Miscellaneous databases

ChiTaRSiPEX5 human
EvolutionaryTraceiP50542
GeneWikiiPEX5
GenomeRNAii5830
PROiPR:P50542
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139197 Expressed in 230 organ(s), highest expression level in medial globus pallidus
CleanExiHS_PEX5
ExpressionAtlasiP50542 baseline and differential
GenevisibleiP50542 HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR024113 PTS1R
IPR024111 PTS1R_family
IPR013026 TPR-contain_dom
IPR011990 TPR-like_helical_dom_sf
IPR019734 TPR_repeat
PANTHERiPTHR10130 PTHR10130, 1 hit
PTHR10130:SF2 PTHR10130:SF2, 1 hit
PfamiView protein in Pfam
PF13181 TPR_8, 1 hit
SMARTiView protein in SMART
SM00028 TPR, 4 hits
SUPFAMiSSF48452 SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005 TPR, 5 hits
PS50293 TPR_REGION, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiPEX5_HUMAN
AccessioniPrimary (citable) accession number: P50542
Secondary accession number(s): A8K891
, B4DZ45, B7ZAD5, D3DUT8, Q15115, Q15266, Q96FN7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: December 12, 2006
Last modified: September 12, 2018
This is version 193 of the entry and version 3 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 12
    Human chromosome 12: 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
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