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UniProtKB - Q969H0 (FBXW7_HUMAN)

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Protein

F-box/WD repeat-containing protein 7

Gene

FBXW7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Substrate recognition component of an SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes and binds phosphorylated sites/phosphodegrons within target proteins and thereafter bring them to the SCF complex for ubiquitination (PubMed:17434132). Identified substrates include cyclin-E (CCNE1 or CCNE2), JUN, MYC, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1 (PubMed:11565034, PubMed:12354302, PubMed:11585921, PubMed:15103331, PubMed:14739463, PubMed:17558397, PubMed:17873522, PubMed:22608923). Acts as a negative regulator of JNK signaling by binding to phosphorylated JUN and promoting its ubiquitination and subsequent degradation (PubMed:14739463).1 Publication8 Publications

GO - Molecular functioni

  • cyclin binding Source: ParkinsonsUK-UCL
  • identical protein binding Source: IntAct
  • phosphothreonine binding Source: UniProtKB
  • protein binding, bridging Source: ParkinsonsUK-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
  • ubiquitin-protein transferase activator activity Source: ParkinsonsUK-UCL
  • ubiquitin-protein transferase activity Source: Reactome
Complete GO annotation...

GO - Biological processi

  • cellular response to DNA damage stimulus Source: UniProtKB
  • cellular response to UV Source: UniProtKB
  • lipid homeostasis Source: BHF-UCL
  • negative regulation of DNA endoreduplication Source: BHF-UCL
  • negative regulation of hepatocyte proliferation Source: BHF-UCL
  • negative regulation of Notch signaling pathway Source: BHF-UCL
  • negative regulation of SREBP signaling pathway Source: BHF-UCL
  • negative regulation of triglyceride biosynthetic process Source: BHF-UCL
  • positive regulation of epidermal growth factor-activated receptor activity Source: BHF-UCL
  • positive regulation of ERK1 and ERK2 cascade Source: BHF-UCL
  • positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway Source: ParkinsonsUK-UCL
  • positive regulation of proteasomal protein catabolic process Source: ParkinsonsUK-UCL
  • positive regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
  • positive regulation of protein ubiquitination Source: ParkinsonsUK-UCL
  • positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process Source: BHF-UCL
  • positive regulation of ubiquitin-protein transferase activity Source: ParkinsonsUK-UCL
  • post-translational protein modification Source: Reactome
  • protein polyubiquitination Source: Reactome
  • protein stabilization Source: BHF-UCL
  • protein ubiquitination Source: UniProtKB
  • regulation of cell cycle G1/S phase transition Source: ParkinsonsUK-UCL
  • regulation of lipid storage Source: BHF-UCL
  • regulation of mitophagy Source: ParkinsonsUK-UCL
  • regulation of protein localization Source: BHF-UCL
  • SCF-dependent proteasomal ubiquitin-dependent protein catabolic process Source: UniProtKB
  • sister chromatid cohesion Source: BHF-UCL
  • vasculature development Source: BHF-UCL
  • viral process Source: UniProtKB-KW
Complete GO annotation...

Keywordsi

Biological processHost-virus interaction, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2644607. Loss of Function of FBXW7 in Cancer and NOTCH1 Signaling.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-390471. Association of TriC/CCT with target proteins during biosynthesis.
R-HSA-8951664. Neddylation.
R-HSA-983168. Antigen processing: Ubiquitination & Proteasome degradation.
SignaLinkiQ969H0.
SIGNORiQ969H0.

Names & Taxonomyi

Protein namesi
Recommended name:
F-box/WD repeat-containing protein 7Curated
Alternative name(s):
Archipelago homolog1 Publication
Short name:
hAgo1 Publication
F-box and WD-40 domain-containing protein 7Curated
F-box protein FBX301 Publication
SEL-101 Publication
hCdc41 Publication
Gene namesi
Name:FBXW7Imported
Synonyms:FBW7Imported, FBX30Imported, SEL10Imported
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 4

Organism-specific databases

HGNCiHGNC:16712. FBXW7.

Subcellular locationi

Isoform 1 :
Isoform 2 :
Isoform 3 :

GO - Cellular componenti

  • cytoplasm Source: ParkinsonsUK-UCL
  • cytosol Source: Reactome
  • nucleolus Source: UniProtKB
  • nucleoplasm Source: UniProtKB
  • Parkin-FBXW7-Cul1 ubiquitin ligase complex Source: ParkinsonsUK-UCL
  • protein complex Source: UniProtKB
  • SCF ubiquitin ligase complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi159S → A: Does not affect interaction with PIN1. 1 Publication1
Mutagenesisi205T → A: Impaired interaction with PIN1. 1 Publication1
Mutagenesisi252 – 257ALDELI → DDDEDD: Prevents homodimerization. 1 Publication6
Mutagenesisi349S → A: Does not affect interaction with PIN1. 1 Publication1
Mutagenesisi372S → A: Does not affect interaction with PIN1. 1 Publication1

Organism-specific databases

DisGeNETi55294.
OpenTargetsiENSG00000109670.
PharmGKBiPA28054.

Polymorphism and mutation databases

BioMutaiFBXW7.
DMDMi44887885.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000509941 – 707F-box/WD repeat-containing protein 7Add BLAST707

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei205Phosphothreonine1 Publication1
Modified residuei227Phosphoserine; by SGK11 Publication1

Post-translational modificationi

Phosphorylation at Thr-205 promotes interaction with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923).1 Publication
Ubiquitinated: autoubiquitinates following phosphorylation at Thr-205 and subsequent interaction with PIN1. Ubiquitination leads to its degradation (PubMed:22608923).1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ969H0.
MaxQBiQ969H0.
PaxDbiQ969H0.
PeptideAtlasiQ969H0.
PRIDEiQ969H0.

PTM databases

iPTMnetiQ969H0.
PhosphoSitePlusiQ969H0.

Expressioni

Tissue specificityi

Isoform 1 is widely expressed. Isoform 3 is expressed in brain.1 Publication

Gene expression databases

BgeeiENSG00000109670.
CleanExiHS_FBXW7.
ExpressionAtlasiQ969H0. baseline and differential.
GenevisibleiQ969H0. HS.

Organism-specific databases

HPAiCAB013793.
CAB029987.

Interactioni

Subunit structurei

Homodimer; homodimerization plays a role in substrate binding and/or ubiquitination and degradation (PubMed:22608923, PubMed:17434132). Component of the SCF(FBXW7) complex consisting of CUL1, RBX1, SKP1 and FBXW7. Interacts with PSEN1, cyclin-E (CCNE1 or CCNE2), NOTCH1 intracellular domain/NICD, NOTCH4 intracellular domain/NICD and SKP1. Interacts with MYC (when phosphorylated). Isoform 1 interacts with USP28, leading to counteract ubiquitination of MYC. Isoform 3 interacts (via WD repeats) with SV40 large T antigen (via CPD region). Forms a trimeric complex with NOTCH1 and SGK1. Interacts with JUN (PubMed:14739463, PubMed:22608923). Interacts (when phosphorylated at Thr-205) with PIN1, leading to disrupt FBXW7 dimerization and promoting FBXW7 autoubiquitination and degradation (PubMed:22608923). Interacts with UBE2QL1 (PubMed:24000165). Interacts with FAM83D; promotes FBXW7 degradation (PubMed:24344117).13 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • cyclin binding Source: ParkinsonsUK-UCL
  • identical protein binding Source: IntAct
  • phosphothreonine binding Source: UniProtKB
  • protein binding, bridging Source: ParkinsonsUK-UCL
  • ubiquitin protein ligase binding Source: ParkinsonsUK-UCL
Complete GO annotation...

Protein-protein interaction databases

BioGridi120581. 308 interactors.
DIPiDIP-27613N.
IntActiQ969H0. 45 interactors.
MINTiMINT-276696.
STRINGi9606.ENSP00000281708.

Structurei

Secondary structure

1707
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi265 – 272Combined sources8
Turni280 – 282Combined sources3
Helixi286 – 293Combined sources8
Helixi298 – 304Combined sources7
Helixi309 – 315Combined sources7
Helixi319 – 325Combined sources7
Turni326 – 329Combined sources4
Helixi350 – 367Combined sources18
Beta strandi374 – 377Combined sources4
Beta strandi384 – 390Combined sources7
Beta strandi393 – 398Combined sources6
Beta strandi403 – 407Combined sources5
Turni408 – 410Combined sources3
Beta strandi413 – 416Combined sources4
Beta strandi424 – 430Combined sources7
Beta strandi433 – 438Combined sources6
Beta strandi443 – 447Combined sources5
Turni448 – 451Combined sources4
Beta strandi452 – 457Combined sources6
Beta strandi464 – 470Combined sources7
Beta strandi473 – 478Combined sources6
Beta strandi481 – 490Combined sources10
Beta strandi493 – 498Combined sources6
Beta strandi504 – 509Combined sources6
Beta strandi514 – 518Combined sources5
Beta strandi523 – 527Combined sources5
Helixi528 – 530Combined sources3
Beta strandi532 – 537Combined sources6
Beta strandi544 – 549Combined sources6
Beta strandi551 – 558Combined sources8
Beta strandi563 – 567Combined sources5
Turni568 – 570Combined sources3
Beta strandi573 – 577Combined sources5
Beta strandi584 – 590Combined sources7
Beta strandi593 – 598Combined sources6
Beta strandi603 – 607Combined sources5
Turni608 – 610Combined sources3
Beta strandi613 – 617Combined sources5
Beta strandi627 – 632Combined sources6
Beta strandi634 – 641Combined sources8
Beta strandi644 – 650Combined sources7
Turni651 – 653Combined sources3
Beta strandi656 – 662Combined sources7
Helixi666 – 668Combined sources3
Beta strandi671 – 677Combined sources7
Beta strandi679 – 687Combined sources9
Beta strandi689 – 693Combined sources5
Beta strandi696 – 701Combined sources6

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2OVPX-ray2.90B263-707[»]
2OVQX-ray2.60B263-707[»]
2OVRX-ray2.50B263-707[»]
5IBKX-ray2.50B/E263-323[»]
ProteinModelPortaliQ969H0.
SMRiQ969H0.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ969H0.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini278 – 324F-boxPROSITE-ProRule annotationAdd BLAST47
Repeati378 – 418WD 1Add BLAST41
Repeati420 – 456WD 2Add BLAST37
Repeati459 – 498WD 3Add BLAST40
Repeati500 – 536WD 4Add BLAST37
Repeati539 – 578WD 5Add BLAST40
Repeati580 – 618WD 6Add BLAST39
Repeati622 – 659WD 7Add BLAST38

Domaini

The WD repeats mediate interaction with substrates of the SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex.1 Publication
The F-box domain mediates interaction with SKP1.1 Publication

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiKOG0274. Eukaryota.
ENOG410XRWX. LUCA.
GeneTreeiENSGT00760000119106.
HOVERGENiHBG051596.
InParanoidiQ969H0.
KOiK10260.
OMAiVWRVAFE.
OrthoDBiEOG091G04EW.
PhylomeDBiQ969H0.
TreeFamiTF101074.

Family and domain databases

Gene3Di2.130.10.10. 3 hits.
InterProiView protein in InterPro
IPR001810. F-box_dom.
IPR020472. G-protein_beta_WD-40_rep.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR019775. WD40_repeat_CS.
IPR017986. WD40_repeat_dom.
PfamiView protein in Pfam
PF12937. F-box-like. 1 hit.
PF00400. WD40. 7 hits.
PRINTSiPR00320. GPROTEINBRPT.
SMARTiView protein in SMART
SM00256. FBOX. 1 hit.
SM00320. WD40. 8 hits.
SUPFAMiSSF50978. SSF50978. 1 hit.
SSF81383. SSF81383. 1 hit.
PROSITEiView protein in PROSITE
PS50181. FBOX. 1 hit.
PS00678. WD_REPEATS_1. 5 hits.
PS50082. WD_REPEATS_2. 7 hits.
PS50294. WD_REPEATS_REGION. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q969H0-1) [UniParc]FASTAAdd to basket
Also known as: Archipelago alpha, FBW7alpha, 110K, common

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
MNQELLSVGS KRRRTGGSLR GNPSSSQVDE EQMNRVVEEE QQQQLRQQEE 
        60         70         80         90        100
EHTARNGEVV GVEPRPGGQN DSQQGQLEEN NNRFISVDED SSGNQEEQEE 
       110        120        130        140        150
DEEHAGEQDE EDEEEEEMDQ ESDDFDQSDD SSREDEHTHT NSVTNSSSIV 
       160        170        180        190        200
DLPVHQLSSP FYTKTTKMKR KLDHGSEVRS FSLGKKPCKV SEYTSTTGLV 
       210        220        230        240        250
PCSATPTTFG DLRAANGQGQ QRRRITSVQP PTGLQEWLKM FQSWSGPEKL 
       260        270        280        290        300
LALDELIDSC EPTQVKHMMQ VIEPQFQRDF ISLLPKELAL YVLSFLEPKD 
       310        320        330        340        350
LLQAAQTCRY WRILAEDNLL WREKCKEEGI DEPLHIKRRK VIKPGFIHSP 
       360        370        380        390        400
WKSAYIRQHR IDTNWRRGEL KSPKVLKGHD DHVITCLQFC GNRIVSGSDD 
       410        420        430        440        450
NTLKVWSAVT GKCLRTLVGH TGGVWSSQMR DNIIISGSTD RTLKVWNAET 
       460        470        480        490        500
GECIHTLYGH TSTVRCMHLH EKRVVSGSRD ATLRVWDIET GQCLHVLMGH 
       510        520        530        540        550
VAAVRCVQYD GRRVVSGAYD FMVKVWDPET ETCLHTLQGH TNRVYSLQFD 
       560        570        580        590        600
GIHVVSGSLD TSIRVWDVET GNCIHTLTGH QSLTSGMELK DNILVSGNAD 
       610        620        630        640        650
STVKIWDIKT GQCLQTLQGP NKHQSAVTCL QFNKNFVITS SDDGTVKLWD 
       660        670        680        690        700
LKTGEFIRNL VTLESGGSGG VVWRIRASNT KLVCAVGSRN GTEETKLLVL 

DFDVDMK
Length:707
Mass (Da):79,663
Last modified:December 1, 2001 - v1
Checksum:iE4A357F76DFD8203
GO
Isoform 2 (identifier: Q969H0-2) [UniParc]FASTAAdd to basket
Also known as: Archipelago beta, FBW7beta, 69K

The sequence of this isoform differs from the canonical sequence as follows:
     1-80: Missing.
     81-166: NNRFISVDED...LSSPFYTKTT → MCVPRSGLIL...FYGTLKMIFY

Show »
Length:627
Mass (Da):70,324
Checksum:i3D4107C053381BED
GO
Isoform 3 (identifier: Q969H0-4) [UniParc]FASTAAdd to basket
Also known as: Archipelago gamma, FBW7gamma, Hippocampal

The sequence of this isoform differs from the canonical sequence as follows:
     1-118: Missing.
     119-167: DQESDDFDQS...SSPFYTKTTK → MSKPGKPTLN...AQGLPFCRRR

Show »
Length:589
Mass (Da):66,120
Checksum:i2AFB6E8A36E6E8DE
GO

Sequence cautioni

The sequence BAA91986 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti344P → L in AAH37320 (PubMed:15489334).Curated1
Sequence conflicti377K → N in AAH37320 (PubMed:15489334).Curated1
Sequence conflicti508Q → R in AAH37320 (PubMed:15489334).Curated1
Isoform 2 (identifier: Q969H0-2)
Sequence conflicti7G → V in AAH37320 (PubMed:15489334).Curated1
Sequence conflicti50L → I in BAA91986 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_017812115E → K. Corresponds to variant dbSNP:rs6816935Ensembl.1
Natural variantiVAR_033030117E → K in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_017813133R → G. Corresponds to variant dbSNP:rs6842544Ensembl.1
Natural variantiVAR_017814144T → R. Corresponds to variant dbSNP:rs7660281Ensembl.1
Natural variantiVAR_017815465R → C in a acute lymphoblastic leukemia cell line. 1 PublicationCorresponds to variant dbSNP:rs867384286Ensembl.1
Natural variantiVAR_035880465R → H in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_017816505R → L in an ovarian cancer cell line. 2 Publications1
Natural variantiVAR_035881582S → L in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_017817668S → G. Corresponds to variant dbSNP:rs7679116Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0094821 – 118Missing in isoform 3. 1 PublicationAdd BLAST118
Alternative sequenceiVSP_0094831 – 80Missing in isoform 2. 2 PublicationsAdd BLAST80
Alternative sequenceiVSP_00948481 – 166NNRFI…YTKTT → MCVPRSGLILSCICLYCGVL LPVLLPNLPFLTCLSMSTLE SVTYLPEKGLYCQRLPSSRT HGGTESLKGKNTENMGFYGT LKMIFY in isoform 2. 2 PublicationsAdd BLAST86
Alternative sequenceiVSP_009485119 – 167DQESD…TKTTK → MSKPGKPTLNHGLVPVDLKS AKEPLPHQTVMKIFSISIIA QGLPFCRRR in isoform 3. 1 PublicationAdd BLAST49

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY033553 mRNA. Translation: AAK57547.1.
AF383178 mRNA. Translation: AAK60269.1.
AF411971 mRNA. Translation: AAL06290.1.
AF411972 mRNA. Translation: AAL06291.1.
AY049984 mRNA. Translation: AAL07271.1.
AY008274 mRNA. Translation: AAG16640.1.
CR749305 mRNA. Translation: CAH18160.1.
BC037320 mRNA. Translation: AAH37320.1.
BC117244 mRNA. Translation: AAI17245.1.
BC117246 mRNA. Translation: AAI17247.1.
BC143944 mRNA. Translation: AAI43945.1.
AK001933 mRNA. Translation: BAA91986.1. Different initiation.
CCDSiCCDS34078.1. [Q969H0-4]
CCDS3777.1. [Q969H0-1]
CCDS3778.1. [Q969H0-2]
RefSeqiNP_001013433.1. NM_001013415.1. [Q969H0-4]
NP_060785.2. NM_018315.4. [Q969H0-2]
NP_361014.1. NM_033632.3. [Q969H0-1]
XP_011530385.1. XM_011532083.1. [Q969H0-1]
XP_011530386.1. XM_011532084.1. [Q969H0-1]
XP_011530387.1. XM_011532085.1. [Q969H0-1]
XP_016863851.1. XM_017008362.1. [Q969H0-1]
UniGeneiHs.561245.
Hs.717081.

Genome annotation databases

EnsembliENST00000263981; ENSP00000263981; ENSG00000109670. [Q969H0-2]
ENST00000281708; ENSP00000281708; ENSG00000109670. [Q969H0-1]
ENST00000296555; ENSP00000296555; ENSG00000109670. [Q969H0-4]
ENST00000603548; ENSP00000474725; ENSG00000109670. [Q969H0-1]
ENST00000603841; ENSP00000474971; ENSG00000109670. [Q969H0-1]
GeneIDi55294.
KEGGihsa:55294.
UCSCiuc003imq.4. human. [Q969H0-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Entry informationi

Entry nameiFBXW7_HUMAN
AccessioniPrimary (citable) accession number: Q969H0
Secondary accession number(s): B7ZLP9
, Q68DR0, Q96A16, Q96LE0, Q96RI2, Q9NUX6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 2004
Last sequence update: December 1, 2001
Last modified: July 5, 2017
This is version 156 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 chromosome 4
    Human chromosome 4: 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
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references