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Protein

Collagen type IV alpha-3-binding protein

Gene

COL4A3BP

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

Functioni

Shelters ceramides and diacylglycerol lipids inside its START domain and mediates the intracellular trafficking of ceramides and diacylglycerol lipids in a non-vesicular manner.4 Publications

Caution

Was originally reported to have a protein kinase activity and to phosphorylate on Ser and Thr residues the Goodpasture autoantigen (in vitro).1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei472Ceramide2 Publications1
Binding sitei493Ceramide2 Publications1
Binding sitei530Ceramide2 Publications1
Binding sitei579Ceramide2 Publications1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Biological processLipid transport, Transport
LigandLipid-binding

Enzyme and pathway databases

BRENDAi2.7.11.9 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis
SIGNORiQ9Y5P4

Chemistry databases

SwissLipidsiSLP:000000407

Names & Taxonomyi

Protein namesi
Recommended name:
Collagen type IV alpha-3-binding protein
Alternative name(s):
Ceramide transfer protein1 Publication
Short name:
hCERT
Goodpasture antigen-binding protein
Short name:
GPBP
START domain-containing protein 11
Short name:
StARD11
StAR-related lipid transfer protein 11
Gene namesi
Name:COL4A3BP
Synonyms:CERT, STARD11
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

EuPathDBiHostDB:ENSG00000113163.15
HGNCiHGNC:2205 COL4A3BP
MIMi604677 gene
neXtProtiNX_Q9Y5P4

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, Endoplasmic reticulum, Golgi apparatus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal dominant 34 (MRD34)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:616351
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073721132S → L in MRD34. 1 PublicationCorresponds to variant dbSNP:rs1064794019Ensembl.1
Natural variantiVAR_078652243G → R in MRD34; associated with authism and epilepsy. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi132S → A: Abolishes the phosphorylation. Strongly reduces the interaction with phosphatidylinositol 4-phosphate. Increases the ceramide transfer activity. 1 Publication1
Mutagenesisi324D → A: Impairs the endoplasmic reticulum-to-Golgi ceramide trafficking and abolishes the interaction with VAPA. 1 Publication1
Mutagenesisi472E → A: Reduces ceramide transfer. 1 Publication1
Mutagenesisi493Q → A: No effect on ceramide transfer activity. 1 Publication1
Mutagenesisi499W → A: Reduces affinity for membranes. Abolishes ceramide transfer; when associated with A-588. 1 Publication1
Mutagenesisi530N → A: Reduces ceramide transfer. 1 Publication1
Mutagenesisi588W → A: Abolishes ceramide transfer; when associated with A-499. 1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi10087
MalaCardsiCOL4A3BP
MIMi616351 phenotype
OpenTargetsiENSG00000113163
PharmGKBiPA26720

Chemistry databases

ChEMBLiCHEMBL3399913

Polymorphism and mutation databases

BioMutaiCOL4A3BP
DMDMi20978413

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002206651 – 624Collagen type IV alpha-3-binding proteinAdd BLAST624

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei126PhosphoserineCombined sources1
Modified residuei132Phosphoserine; by PKD1 Publication1
Modified residuei135PhosphoserineBy similarity1
Modified residuei315PhosphoserineCombined sources1
Modified residuei372PhosphotyrosineCombined sources1
Modified residuei373PhosphoserineCombined sources1
Modified residuei377PhosphoserineCombined sources1
Modified residuei380PhosphoserineCombined sources1

Post-translational modificationi

Phosphorylation on Ser-132 decreases the affinity toward phosphatidylinositol 4-phosphate at Golgi membranes and reduces ceramide transfer activity. Inactivated by hyperphosphorylation of serine residues by CSNK1G2/CK1 that triggers dissociation from the Golgi complex, thus down-regulating ER-to-Golgi transport of ceramide and sphingomyelin synthesis.2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y5P4
PaxDbiQ9Y5P4
PeptideAtlasiQ9Y5P4
PRIDEiQ9Y5P4
ProteomicsDBi86463
86464 [Q9Y5P4-2]
86465 [Q9Y5P4-3]

PTM databases

iPTMnetiQ9Y5P4
PhosphoSitePlusiQ9Y5P4

Expressioni

Tissue specificityi

Widely expressed.

Gene expression databases

BgeeiENSG00000113163 Expressed in 235 organ(s), highest expression level in cerebellar vermis
CleanExiHS_COL4A3BP
ExpressionAtlasiQ9Y5P4 baseline and differential
GenevisibleiQ9Y5P4 HS

Organism-specific databases

HPAiHPA035645
HPA042608

Interactioni

Subunit structurei

Interacts with COL4A3. Interacts with VAPA and VAPB. Interaction with VAPB is less efficient than with VAPA.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi115396, 30 interactors
ELMiQ9Y5P4
IntActiQ9Y5P4, 21 interactors
MINTiQ9Y5P4
STRINGi9606.ENSP00000369862

Chemistry databases

BindingDBiQ9Y5P4

Structurei

Secondary structure

1624
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9Y5P4
SMRiQ9Y5P4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y5P4

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini23 – 117PHPROSITE-ProRule annotationAdd BLAST95
Domaini389 – 618STARTPROSITE-ProRule annotationAdd BLAST230

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili263 – 303Sequence analysisAdd BLAST41

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi321 – 327FFAT1 Publication7

Domaini

The START domain recognizes ceramides and diacylglycerol lipids, interacts with membranes, and mediates the intermembrane transfer of ceramides and diacylglycerol lipids.1 Publication
The PH domain targets the Golgi apparatus.1 Publication
The FFAT motif is required for interaction with VAPA and VAPB.1 Publication

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiKOG1739 Eukaryota
ENOG410XQTB LUCA
GeneTreeiENSGT00650000093230
HOVERGENiHBG050753
InParanoidiQ9Y5P4
KOiK08283
OMAiWPTSMPS
OrthoDBiEOG091G063Z
PhylomeDBiQ9Y5P4
TreeFamiTF106160

Family and domain databases

Gene3Di2.30.29.30, 1 hit
3.30.530.20, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR023393 START-like_dom_sf
IPR002913 START_lipid-bd_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF01852 START, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00234 START, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50848 START, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 18 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y5P4-1) [UniParc]FASTAAdd to basket
Also known as: CERTL1 Publication

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
MSDNQSWNSS GSEEDPETES GPPVERCGVL SKWTNYIHGW QDRWVVLKNN
60 70 80 90 100
ALSYYKSEDE TEYGCRGSIC LSKAVITPHD FDECRFDISV NDSVWYLRAQ
110 120 130 140 150
DPDHRQQWID AIEQHKTESG YGSESSLRRH GSMVSLVSGA SGYSATSTSS
160 170 180 190 200
FKKGHSLREK LAEMETFRDI LCRQVDTLQK YFDACADAVS KDELQRDKVV
210 220 230 240 250
EDDEDDFPTT RSDGDFLHST NGNKEKLFPH VTPKGINGID FKGEAITFKA
260 270 280 290 300
TTAGILATLS HCIELMVKRE DSWQKRLDKE TEKKRRTEEA YKNAMTELKK
310 320 330 340 350
KSHFGGPDYE EGPNSLINEE EFFDAVEAAL DRQDKIEEQS QSEKVRLHWP
360 370 380 390 400
TSLPSGDAFS SVGTHRFVQK PYSRSSSMSS IDLVSASDDV HRFSSQVEEM
410 420 430 440 450
VQNHMTYSLQ DVGGDANWQL VVEEGEMKVY RREVEENGIV LDPLKATHAV
460 470 480 490 500
KGVTGHEVCN YFWNVDVRND WETTIENFHV VETLADNAII IYQTHKRVWP
510 520 530 540 550
ASQRDVLYLS VIRKIPALTE NDPETWIVCN FSVDHDSAPL NNRCVRAKIN
560 570 580 590 600
VAMICQTLVS PPEGNQEISR DNILCKITYV ANVNPGGWAP ASVLRAVAKR
610 620
EYPKFLKRFT SYVQEKTAGK PILF
Length:624
Mass (Da):70,835
Last modified:November 1, 1999 - v1
Checksum:iA125162492AC5A0E
GO
Isoform 2 (identifier: Q9Y5P4-2) [UniParc]FASTAAdd to basket
Also known as: Delta26, GPBPD26, CERT1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     371-396: Missing.

Show »
Length:598
Mass (Da):68,007
Checksum:iFC52E241DE7C5D85
GO
Isoform 3 (identifier: Q9Y5P4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MQHSCIPTPP...GLLLGCRASM

Show »
Length:752
Mass (Da):83,708
Checksum:i277A14A581D94EDF
GO

Computationally mapped potential isoform sequencesi

There are 18 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y7C5A0A2R8Y7C5_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
605Annotation score:
A0A2R8Y7Q9A0A2R8Y7Q9_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
566Annotation score:
A0A2R8YFA1A0A2R8YFA1_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
405Annotation score:
A0A2R8Y5H3A0A2R8Y5H3_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
521Annotation score:
A0A2R8YE18A0A2R8YE18_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
584Annotation score:
A0A2R8YE59A0A2R8YE59_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
406Annotation score:
A0A2R8Y5S9A0A2R8Y5S9_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
596Annotation score:
A0A2R8YEA4A0A2R8YEA4_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
381Annotation score:
A0A2R8YFI2A0A2R8YFI2_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
311Annotation score:
H0Y9J1H0Y9J1_HUMAN
Collagen type IV alpha-3-binding pr...
COL4A3BP
143Annotation score:
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073721132S → L in MRD34. 1 PublicationCorresponds to variant dbSNP:rs1064794019Ensembl.1
Natural variantiVAR_069403138S → C Found in a patient with mental retardation. 1 Publication1
Natural variantiVAR_078652243G → R in MRD34; associated with authism and epilepsy. 1 Publication1
Natural variantiVAR_061815599K → R. Corresponds to variant dbSNP:rs55882089Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0410221M → MQHSCIPTPPSPFSAPPAFL PVVTRESRRGLSSGGSAGRN AGVTATAAAADGWKGRLPSP LVLLPRSARCQARRRRGGRT SSLLLLPPTPERALFASPSP DPSPRGLGASSGAAEGAGAG LLLGCRASM in isoform 3. 1 Publication1
Alternative sequenceiVSP_006276371 – 396Missing in isoform 2. 4 PublicationsAdd BLAST26

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF136450 mRNA Translation: AAD30288.1
AF232930 mRNA Translation: AAG42046.1
AF232935 Genomic DNA Translation: AAG42051.1
AY453385 mRNA Translation: AAR26717.1
AY453386 mRNA Translation: AAR26718.1
AK091851 mRNA Translation: BAC03762.1
AK096854 mRNA Translation: BAG53379.1
AK292087 mRNA Translation: BAF84776.1
AC008897 Genomic DNA No translation available.
AC112183 Genomic DNA No translation available.
AC116341 Genomic DNA No translation available.
CH471084 Genomic DNA Translation: EAW95757.1
CH471084 Genomic DNA Translation: EAW95760.1
BC000102 mRNA Translation: AAH00102.1
AB036934 Genomic DNA Translation: BAB58974.1
AB036936 Genomic DNA Translation: BAB58977.1
CCDSiCCDS4028.1 [Q9Y5P4-1]
CCDS4029.1 [Q9Y5P4-2]
CCDS47235.1 [Q9Y5P4-3]
RefSeqiNP_001123577.1, NM_001130105.1 [Q9Y5P4-3]
NP_005704.1, NM_005713.2 [Q9Y5P4-1]
NP_112729.1, NM_031361.2 [Q9Y5P4-2]
XP_006714576.1, XM_006714513.2 [Q9Y5P4-1]
XP_016864408.1, XM_017008919.1 [Q9Y5P4-2]
UniGeneiHs.270437

Genome annotation databases

EnsembliENST00000261415; ENSP00000261415; ENSG00000113163 [Q9Y5P4-1]
ENST00000405807; ENSP00000383996; ENSG00000113163 [Q9Y5P4-1]
ENST00000643780; ENSP00000495760; ENSG00000113163 [Q9Y5P4-1]
ENST00000644072; ENSP00000494110; ENSG00000113163 [Q9Y5P4-3]
ENST00000644445; ENSP00000496243; ENSG00000113163 [Q9Y5P4-2]
ENST00000645483; ENSP00000493563; ENSG00000113163 [Q9Y5P4-2]
ENST00000646511; ENSP00000495446; ENSG00000113163 [Q9Y5P4-2]
GeneIDi10087
KEGGihsa:10087
UCSCiuc003kds.4 human [Q9Y5P4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF136450 mRNA Translation: AAD30288.1
AF232930 mRNA Translation: AAG42046.1
AF232935 Genomic DNA Translation: AAG42051.1
AY453385 mRNA Translation: AAR26717.1
AY453386 mRNA Translation: AAR26718.1
AK091851 mRNA Translation: BAC03762.1
AK096854 mRNA Translation: BAG53379.1
AK292087 mRNA Translation: BAF84776.1
AC008897 Genomic DNA No translation available.
AC112183 Genomic DNA No translation available.
AC116341 Genomic DNA No translation available.
CH471084 Genomic DNA Translation: EAW95757.1
CH471084 Genomic DNA Translation: EAW95760.1
BC000102 mRNA Translation: AAH00102.1
AB036934 Genomic DNA Translation: BAB58974.1
AB036936 Genomic DNA Translation: BAB58977.1
CCDSiCCDS4028.1 [Q9Y5P4-1]
CCDS4029.1 [Q9Y5P4-2]
CCDS47235.1 [Q9Y5P4-3]
RefSeqiNP_001123577.1, NM_001130105.1 [Q9Y5P4-3]
NP_005704.1, NM_005713.2 [Q9Y5P4-1]
NP_112729.1, NM_031361.2 [Q9Y5P4-2]
XP_006714576.1, XM_006714513.2 [Q9Y5P4-1]
XP_016864408.1, XM_017008919.1 [Q9Y5P4-2]
UniGeneiHs.270437

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2E3MX-ray2.20A347-624[»]
2E3NX-ray1.40A347-624[»]
2E3OX-ray1.55A347-624[»]
2E3PX-ray1.40A/B347-624[»]
2E3QX-ray2.08A347-624[»]
2E3RX-ray1.65A/B347-624[»]
2E3SX-ray1.94A347-624[»]
2RSGNMR-A24-117[»]
2Z9YX-ray1.80A347-624[»]
2Z9ZX-ray1.74A347-624[»]
3H3QX-ray2.00A/B347-624[»]
3H3RX-ray1.85A/B347-624[»]
3H3SX-ray1.66A/B347-624[»]
3H3TX-ray2.40A/B347-624[»]
4HHVX-ray1.75A/B20-121[»]
5JJDX-ray2.40A20-122[»]
B385-624[»]
ProteinModelPortaliQ9Y5P4
SMRiQ9Y5P4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115396, 30 interactors
ELMiQ9Y5P4
IntActiQ9Y5P4, 21 interactors
MINTiQ9Y5P4
STRINGi9606.ENSP00000369862

Chemistry databases

BindingDBiQ9Y5P4
ChEMBLiCHEMBL3399913
SwissLipidsiSLP:000000407

PTM databases

iPTMnetiQ9Y5P4
PhosphoSitePlusiQ9Y5P4

Polymorphism and mutation databases

BioMutaiCOL4A3BP
DMDMi20978413

Proteomic databases

EPDiQ9Y5P4
PaxDbiQ9Y5P4
PeptideAtlasiQ9Y5P4
PRIDEiQ9Y5P4
ProteomicsDBi86463
86464 [Q9Y5P4-2]
86465 [Q9Y5P4-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000261415; ENSP00000261415; ENSG00000113163 [Q9Y5P4-1]
ENST00000405807; ENSP00000383996; ENSG00000113163 [Q9Y5P4-1]
ENST00000643780; ENSP00000495760; ENSG00000113163 [Q9Y5P4-1]
ENST00000644072; ENSP00000494110; ENSG00000113163 [Q9Y5P4-3]
ENST00000644445; ENSP00000496243; ENSG00000113163 [Q9Y5P4-2]
ENST00000645483; ENSP00000493563; ENSG00000113163 [Q9Y5P4-2]
ENST00000646511; ENSP00000495446; ENSG00000113163 [Q9Y5P4-2]
GeneIDi10087
KEGGihsa:10087
UCSCiuc003kds.4 human [Q9Y5P4-1]

Organism-specific databases

CTDi10087
DisGeNETi10087
EuPathDBiHostDB:ENSG00000113163.15
GeneCardsiCOL4A3BP
HGNCiHGNC:2205 COL4A3BP
HPAiHPA035645
HPA042608
MalaCardsiCOL4A3BP
MIMi604677 gene
616351 phenotype
neXtProtiNX_Q9Y5P4
OpenTargetsiENSG00000113163
PharmGKBiPA26720
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1739 Eukaryota
ENOG410XQTB LUCA
GeneTreeiENSGT00650000093230
HOVERGENiHBG050753
InParanoidiQ9Y5P4
KOiK08283
OMAiWPTSMPS
OrthoDBiEOG091G063Z
PhylomeDBiQ9Y5P4
TreeFamiTF106160

Enzyme and pathway databases

BRENDAi2.7.11.9 2681
ReactomeiR-HSA-1660661 Sphingolipid de novo biosynthesis
SIGNORiQ9Y5P4

Miscellaneous databases

ChiTaRSiCOL4A3BP human
EvolutionaryTraceiQ9Y5P4
GeneWikiiCOL4A3BP
GenomeRNAii10087
PROiPR:Q9Y5P4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000113163 Expressed in 235 organ(s), highest expression level in cerebellar vermis
CleanExiHS_COL4A3BP
ExpressionAtlasiQ9Y5P4 baseline and differential
GenevisibleiQ9Y5P4 HS

Family and domain databases

Gene3Di2.30.29.30, 1 hit
3.30.530.20, 1 hit
InterProiView protein in InterPro
IPR011993 PH-like_dom_sf
IPR001849 PH_domain
IPR023393 START-like_dom_sf
IPR002913 START_lipid-bd_dom
PfamiView protein in Pfam
PF00169 PH, 1 hit
PF01852 START, 1 hit
SMARTiView protein in SMART
SM00233 PH, 1 hit
SM00234 START, 1 hit
PROSITEiView protein in PROSITE
PS50003 PH_DOMAIN, 1 hit
PS50848 START, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiC43BP_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5P4
Secondary accession number(s): A8K7S2
, B3KUB7, Q53YV1, Q53YV2, Q96Q85, Q96Q88, Q9H2S7, Q9H2S8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 15, 2002
Last sequence update: November 1, 1999
Last modified: November 7, 2018
This is version 168 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

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. 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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