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Protein

Beta-adducin

Gene

ADD2

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

Functioni

Membrane-cytoskeleton-associated protein that promotes the assembly of the spectrin-actin network. Binds to the erythrocyte membrane receptor SLC2A1/GLUT1 and may therefore provide a link between the spectrin cytoskeleton to the plasma membrane. Binds to calmodulin. Calmodulin binds preferentially to the beta subunit.1 Publication

GO - Molecular functioni

  • actin binding Source: ProtInc
  • actin filament binding Source: BHF-UCL
  • protein heterodimerization activity Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • spectrin binding Source: BHF-UCL
  • structural molecule activity Source: Ensembl

GO - Biological processi

  • actin cytoskeleton organization Source: BHF-UCL
  • actin filament bundle assembly Source: BHF-UCL
  • barbed-end actin filament capping Source: BHF-UCL
  • hemopoiesis Source: Ensembl
  • positive regulation of protein binding Source: BHF-UCL
  • protein complex assembly Source: UniProtKB
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Ligandi

Actin-binding, Calmodulin-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075340-MONOMER.
ReactomeiR-HSA-5223345. Miscellaneous transport and binding events.
SIGNORiP35612.

Names & Taxonomyi

Protein namesi
Recommended name:
Beta-adducin
Alternative name(s):
Erythrocyte adducin subunit beta
Gene namesi
Name:ADD2
Synonyms:ADDB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:244. ADD2.

Subcellular locationi

GO - Cellular componenti

  • cytoplasmic, membrane-bounded vesicle Source: UniProtKB
  • cytosol Source: Reactome
  • F-actin capping protein complex Source: BHF-UCL
  • plasma membrane Source: UniProtKB-SubCell
  • postsynaptic density Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Cytoskeleton, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi119.
OpenTargetsiENSG00000075340.
PharmGKBiPA24566.

Polymorphism and mutation databases

BioMutaiADD2.
DMDMi543774.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedBy similarity
ChainiPRO_00002185332 – 726Beta-adducinAdd BLAST725

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylserineBy similarity1
Modified residuei11PhosphoserineCombined sources1
Modified residuei25PhosphoserineBy similarity1
Modified residuei55Phosphothreonine; by PKA1 Publication1
Modified residuei60PhosphoserineBy similarity1
Modified residuei344PhosphoserineBy similarity1
Modified residuei396PhosphoserineBy similarity1
Modified residuei455PhosphoserineBy similarity1
Modified residuei530PhosphoserineCombined sources1
Modified residuei532PhosphoserineCombined sources1
Modified residuei533PhosphothreonineBy similarity1
Modified residuei535PhosphoserineBy similarity1
Modified residuei592PhosphoserineCombined sources1
Modified residuei596PhosphoserineCombined sources1
Modified residuei600PhosphoserineCombined sources1
Modified residuei604PhosphoserineCombined sources1
Modified residuei611PhosphothreonineCombined sources1
Modified residuei613PhosphoserineCombined sources1
Modified residuei617PhosphoserineCombined sources1
Modified residuei619PhosphoserineBy similarity1
Modified residuei621PhosphoserineCombined sources1
Modified residuei675PhosphothreonineCombined sources1
Modified residuei686PhosphoserineBy similarity1
Modified residuei689PhosphoserineBy similarity1
Modified residuei693PhosphoserineCombined sources1
Modified residuei697PhosphoserineCombined sources1
Modified residuei699PhosphoserineBy similarity1
Modified residuei701PhosphoserineBy similarity1
Modified residuei703Phosphoserine; by PKC1 Publication1
Modified residuei713Phosphoserine; by PKA and PKC1 Publication1

Post-translational modificationi

The N-terminus is blocked.

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP35612.
MaxQBiP35612.
PaxDbiP35612.
PeptideAtlasiP35612.
PRIDEiP35612.

PTM databases

iPTMnetiP35612.
PhosphoSitePlusiP35612.

Expressioni

Tissue specificityi

Expressed mainly in brain, spleen, kidney cortex and medulla, and heart. Also expressed in human umbilical vein endothelial cells, human vascular smooth muscle cells, kidney tubular cells and K-562 cell line.1 Publication

Developmental stagei

Fetal kidney expresses isoforms 3, 4, 5, 6 and 7, and fetal liver expresses isoforms 3 and 4.1 Publication

Gene expression databases

BgeeiENSG00000075340.
ExpressionAtlasiP35612. baseline and differential.
GenevisibleiP35612. HS.

Organism-specific databases

HPAiCAB009796.
HPA034509.
HPA034510.

Interactioni

Subunit structurei

Heterodimer of an alpha and a beta subunit. Found in a complex with ADD2, DMTN and SLC2A1. Interacts with SLC2A1.1 Publication

GO - Molecular functioni

  • actin binding Source: ProtInc
  • actin filament binding Source: BHF-UCL
  • protein heterodimerization activity Source: BHF-UCL
  • protein homodimerization activity Source: BHF-UCL
  • spectrin binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi106632. 15 interactors.
STRINGi9606.ENSP00000264436.

Structurei

3D structure databases

DisProtiDP00241.
ProteinModelPortaliP35612.
SMRiP35612.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni425 – 444Interaction with calmodulinSequence analysisAdd BLAST20
Regioni704 – 721Interaction with calmodulinSequence analysisAdd BLAST18

Domaini

Each subunit is comprised of three regions: a NH2-terminal protease-resistant globular head region, a short connecting subdomain, and a protease-sensitive tail region.

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG3699. Eukaryota.
COG0235. LUCA.
GeneTreeiENSGT00390000016462.
HOVERGENiHBG004180.
InParanoidiP35612.
KOiK18622.
OMAiYKIFHLQ.
OrthoDBiEOG091G0324.
PhylomeDBiP35612.
TreeFamiTF313003.

Family and domain databases

Gene3Di3.40.225.10. 1 hit.
InterProiIPR027773. ADD2.
IPR001303. Aldolase_II/adducin_N.
[Graphical view]
PANTHERiPTHR10672:SF6. PTHR10672:SF6. 2 hits.
PfamiPF00596. Aldolase_II. 1 hit.
[Graphical view]
SMARTiSM01007. Aldolase_II. 1 hit.
[Graphical view]
SUPFAMiSSF53639. SSF53639. 1 hit.

Sequences (9)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P35612-1) [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
MSEETVPEAA SPPPPQGQPY FDRFSEDDPE YMRLRNRAAD LRQDFNLMEQ
60 70 80 90 100
KKRVTMILQS PSFREELEGL IQEQMKKGNN SSNIWALRQI ADFMASTSHA
110 120 130 140 150
VFPTSSMNVS MMTPINDLHT ADSLNLAKGE RLMRCKISSV YRLLDLYGWA
160 170 180 190 200
QLSDTYVTLR VSKEQDHFLI SPKGVSCSEV TASSLIKVNI LGEVVEKGSS
210 220 230 240 250
CFPVDTTGFC LHSAIYAARP DVRCIIHLHT PATAAVSAMK WGLLPVSHNA
260 270 280 290 300
LLVGDMAYYD FNGEMEQEAD RINLQKCLGP TCKILVLRNH GVVALGDTVE
310 320 330 340 350
EAFYKIFHLQ AACEIQVSAL SSAGGVENLI LLEQEKHRPH EVGSVQWAGS
360 370 380 390 400
TFGPMQKSRL GEHEFEALMR MLDNLGYRTG YTYRHPFVQE KTKHKSEVEI
410 420 430 440 450
PATVTAFVFE EDGAPVPALR QHAQKQQKEK TRWLNTPNTY LRVNVADEVQ
460 470 480 490 500
RSMGSPRPKT TWMKADEVEK SSSGMPIRIE NPNQFVPLYT DPQEVLEMRN
510 520 530 540 550
KIREQNRQDV KSAGPQSQLL ASVIAEKSRS PSTESQLMSK GDEDTKDDSE
560 570 580 590 600
ETVPNPFSQL TDQELEEYKK EVERKKLELD GEKETAPEEP GSPAKSAPAS
610 620 630 640 650
PVQSPAKEAE TKSPLVSPSK SLEEGTKKTE TSKAATTEPE TTQPEGVVVN
660 670 680 690 700
GREEEQTAEE ILSKGLSQMT TSADTDVDTS KDKTESVTSG PMSPEGSPSK
710 720
SPSKKKKKFR TPSFLKKSKK KEKVES
Length:726
Mass (Da):80,854
Last modified:January 23, 2007 - v3
Checksum:iB07F7303D929DBA4
GO
Isoform 2 (identifier: P35612-2) [UniParc]FASTAAdd to basket
Also known as: Adducin 63

The sequence of this isoform differs from the canonical sequence as follows:
     532-559: STESQLMSKGDEDTKDDSEETVPNPFSQ → VEQRLPLTGGETCLPSGSSVPGAGLQDP
     560-726: Missing.

Show »
Length:559
Mass (Da):62,467
Checksum:iB62B278AE8F48FD4
GO
Isoform 3 (identifier: P35612-3) [UniParc]FASTAAdd to basket
Also known as: Beta-4, E

The sequence of this isoform differs from the canonical sequence as follows:
     581-726: GEKETAPEEP...KSKKKEKVES → ETGQEREPGS...QRRRQRQRAL

Show »
Length:643
Mass (Da):72,721
Checksum:i46A10F1D1278E955
GO
Isoform 4 (identifier: P35612-4) [UniParc]FASTAAdd to basket
Also known as: Beta-4a

The sequence of this isoform differs from the canonical sequence as follows:
     581-587: GEKETAP → APGWFSS
     588-726: Missing.

Show »
Length:587
Mass (Da):66,154
Checksum:iB7ACFE32B2731FB5
GO
Isoform 5 (identifier: P35612-5) [UniParc]FASTAAdd to basket
Also known as: Beta-4b

The sequence of this isoform differs from the canonical sequence as follows:
     188-493: Missing.
     581-586: GEKETA → ETGQER
     587-726: Missing.

Show »
Length:280
Mass (Da):31,935
Checksum:i851E20275B19D246
GO
Isoform 6 (identifier: P35612-6) [UniParc]FASTAAdd to basket
Also known as: Beta-4c

The sequence of this isoform differs from the canonical sequence as follows:
     188-493: Missing.
     581-587: GEKETAP → APGWFSS
     588-726: Missing.

Show »
Length:281
Mass (Da):31,967
Checksum:i1CF4ACF5875DDF12
GO
Isoform 7 (identifier: P35612-7) [UniParc]FASTAAdd to basket
Also known as: Beta-4d

The sequence of this isoform differs from the canonical sequence as follows:
     78-566: Missing.
     581-587: GEKETAP → APGWFSS
     588-726: Missing.

Show »
Length:98
Mass (Da):11,625
Checksum:i2FABB44289701D9B
GO
Isoform 8 (identifier: P35612-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPRRRVPGANCKPTGK
     532-559: STESQLMSKGDEDTKDDSEETVPNPFSQ → VEQRLPLTGGETCLPSGSSVPGAGLQDP
     560-726: Missing.

Note: No experimental confirmation available.
Show »
Length:574
Mass (Da):64,086
Checksum:i4169DB571ED52F85
GO
Isoform 9 (identifier: P35612-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MPRRRVPGANCKPTGKM
     532-559: STESQLMSKGDEDTKDDSEETVPNPFSQ → VEQRLPLTGGETCLPSGSSVPGAGLQDP
     560-726: Missing.

Note: No experimental confirmation available.
Show »
Length:575
Mass (Da):64,217
Checksum:i99629BA28D32AE6E
GO

Sequence cautioni

The sequence BAD92464 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01486628D → N.Corresponds to variant rs4986dbSNPEnsembl.1
Natural variantiVAR_04819598S → C.Corresponds to variant rs4987dbSNPEnsembl.1
Natural variantiVAR_014867335E → D.Corresponds to variant rs4982dbSNPEnsembl.1
Natural variantiVAR_025318439T → A.1 PublicationCorresponds to variant rs17855969dbSNPEnsembl.1
Natural variantiVAR_014868663S → R.Corresponds to variant rs4985dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0436251M → MPRRRVPGANCKPTGK in isoform 8. 1 Publication1
Alternative sequenceiVSP_0553091M → MPRRRVPGANCKPTGKM in isoform 9. 1 Publication1
Alternative sequenceiVSP_01724178 – 566Missing in isoform 7. 1 PublicationAdd BLAST489
Alternative sequenceiVSP_017242188 – 493Missing in isoform 5 and isoform 6. 1 PublicationAdd BLAST306
Alternative sequenceiVSP_000181532 – 559STESQ…NPFSQ → VEQRLPLTGGETCLPSGSSV PGAGLQDP in isoform 2, isoform 8 and isoform 9. 2 PublicationsAdd BLAST28
Alternative sequenceiVSP_000182560 – 726Missing in isoform 2, isoform 8 and isoform 9. 2 PublicationsAdd BLAST167
Alternative sequenceiVSP_000183581 – 726GEKET…EKVES → ETGQEREPGSGPAVCEFFSV ALHIWSNILERKKLPQKSLA HLQSLHLLLQCRAQRRRQRQ RAL in isoform 3. 2 PublicationsAdd BLAST146
Alternative sequenceiVSP_017244581 – 587GEKETAP → APGWFSS in isoform 4, isoform 6 and isoform 7. 1 Publication7
Alternative sequenceiVSP_017243581 – 586GEKETA → ETGQER in isoform 5. 1 Publication6
Alternative sequenceiVSP_017245587 – 726Missing in isoform 5. 1 PublicationAdd BLAST140
Alternative sequenceiVSP_017246588 – 726Missing in isoform 4, isoform 6 and isoform 7. 1 PublicationAdd BLAST139

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X58199 mRNA. Translation: CAA41176.1.
AF486420 mRNA. Translation: AAP71863.1.
AF486421 mRNA. Translation: AAP71864.1.
AF486422 mRNA. Translation: AAP71865.1.
AF486423 mRNA. Translation: AAP71866.1.
AK291007 mRNA. Translation: BAF83696.1.
AK297250 mRNA. Translation: BAG59729.1.
AK309773 mRNA. No translation available.
AB209227 mRNA. Translation: BAD92464.1. Different initiation.
AB593080 mRNA. Translation: BAJ84020.1.
AC005234 Genomic DNA. Translation: AAD12715.1.
AC007395 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAW99801.1.
CH471053 Genomic DNA. Translation: EAW99806.1.
CH471053 Genomic DNA. Translation: EAW99807.1.
CH471053 Genomic DNA. Translation: EAW99808.1.
BC041666 mRNA. Translation: AAH41666.1.
BC051882 mRNA. Translation: AAH51882.1.
BC056881 mRNA. Translation: AAH56881.1.
BC065525 mRNA. Translation: AAH65525.1.
U43959 mRNA. Translation: AAA86421.1.
S81079, S81077 Genomic DNA. Translation: AAD14349.1.
CCDSiCCDS1906.1. [P35612-1]
CCDS1909.1. [P35612-3]
CCDS46318.1. [P35612-2]
CCDS54365.1. [P35612-9]
PIRiS18208.
RefSeqiNP_001171983.1. NM_001185054.1. [P35612-1]
NP_001171984.1. NM_001185055.1. [P35612-9]
NP_001608.1. NM_001617.3. [P35612-1]
NP_059516.2. NM_017482.3. [P35612-2]
NP_059522.1. NM_017488.3. [P35612-3]
XP_011530804.1. XM_011532502.2. [P35612-1]
UniGeneiHs.188528.
Hs.66187.

Genome annotation databases

EnsembliENST00000264436; ENSP00000264436; ENSG00000075340. [P35612-1]
ENST00000355733; ENSP00000347972; ENSG00000075340. [P35612-3]
ENST00000403045; ENSP00000384303; ENSG00000075340. [P35612-1]
ENST00000407644; ENSP00000384677; ENSG00000075340. [P35612-1]
ENST00000413157; ENSP00000388072; ENSG00000075340. [P35612-2]
ENST00000430656; ENSP00000398112; ENSG00000075340. [P35612-9]
GeneIDi119.
KEGGihsa:119.
UCSCiuc002sgy.4. human. [P35612-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X58199 mRNA. Translation: CAA41176.1.
AF486420 mRNA. Translation: AAP71863.1.
AF486421 mRNA. Translation: AAP71864.1.
AF486422 mRNA. Translation: AAP71865.1.
AF486423 mRNA. Translation: AAP71866.1.
AK291007 mRNA. Translation: BAF83696.1.
AK297250 mRNA. Translation: BAG59729.1.
AK309773 mRNA. No translation available.
AB209227 mRNA. Translation: BAD92464.1. Different initiation.
AB593080 mRNA. Translation: BAJ84020.1.
AC005234 Genomic DNA. Translation: AAD12715.1.
AC007395 Genomic DNA. No translation available.
CH471053 Genomic DNA. Translation: EAW99801.1.
CH471053 Genomic DNA. Translation: EAW99806.1.
CH471053 Genomic DNA. Translation: EAW99807.1.
CH471053 Genomic DNA. Translation: EAW99808.1.
BC041666 mRNA. Translation: AAH41666.1.
BC051882 mRNA. Translation: AAH51882.1.
BC056881 mRNA. Translation: AAH56881.1.
BC065525 mRNA. Translation: AAH65525.1.
U43959 mRNA. Translation: AAA86421.1.
S81079, S81077 Genomic DNA. Translation: AAD14349.1.
CCDSiCCDS1906.1. [P35612-1]
CCDS1909.1. [P35612-3]
CCDS46318.1. [P35612-2]
CCDS54365.1. [P35612-9]
PIRiS18208.
RefSeqiNP_001171983.1. NM_001185054.1. [P35612-1]
NP_001171984.1. NM_001185055.1. [P35612-9]
NP_001608.1. NM_001617.3. [P35612-1]
NP_059516.2. NM_017482.3. [P35612-2]
NP_059522.1. NM_017488.3. [P35612-3]
XP_011530804.1. XM_011532502.2. [P35612-1]
UniGeneiHs.188528.
Hs.66187.

3D structure databases

DisProtiDP00241.
ProteinModelPortaliP35612.
SMRiP35612.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi106632. 15 interactors.
STRINGi9606.ENSP00000264436.

PTM databases

iPTMnetiP35612.
PhosphoSitePlusiP35612.

Polymorphism and mutation databases

BioMutaiADD2.
DMDMi543774.

Proteomic databases

EPDiP35612.
MaxQBiP35612.
PaxDbiP35612.
PeptideAtlasiP35612.
PRIDEiP35612.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264436; ENSP00000264436; ENSG00000075340. [P35612-1]
ENST00000355733; ENSP00000347972; ENSG00000075340. [P35612-3]
ENST00000403045; ENSP00000384303; ENSG00000075340. [P35612-1]
ENST00000407644; ENSP00000384677; ENSG00000075340. [P35612-1]
ENST00000413157; ENSP00000388072; ENSG00000075340. [P35612-2]
ENST00000430656; ENSP00000398112; ENSG00000075340. [P35612-9]
GeneIDi119.
KEGGihsa:119.
UCSCiuc002sgy.4. human. [P35612-1]

Organism-specific databases

CTDi119.
DisGeNETi119.
GeneCardsiADD2.
HGNCiHGNC:244. ADD2.
HPAiCAB009796.
HPA034509.
HPA034510.
MIMi102681. gene.
neXtProtiNX_P35612.
OpenTargetsiENSG00000075340.
PharmGKBiPA24566.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3699. Eukaryota.
COG0235. LUCA.
GeneTreeiENSGT00390000016462.
HOVERGENiHBG004180.
InParanoidiP35612.
KOiK18622.
OMAiYKIFHLQ.
OrthoDBiEOG091G0324.
PhylomeDBiP35612.
TreeFamiTF313003.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000075340-MONOMER.
ReactomeiR-HSA-5223345. Miscellaneous transport and binding events.
SIGNORiP35612.

Miscellaneous databases

GeneWikiiADD2.
GenomeRNAii119.
PROiP35612.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000075340.
ExpressionAtlasiP35612. baseline and differential.
GenevisibleiP35612. HS.

Family and domain databases

Gene3Di3.40.225.10. 1 hit.
InterProiIPR027773. ADD2.
IPR001303. Aldolase_II/adducin_N.
[Graphical view]
PANTHERiPTHR10672:SF6. PTHR10672:SF6. 2 hits.
PfamiPF00596. Aldolase_II. 1 hit.
[Graphical view]
SMARTiSM01007. Aldolase_II. 1 hit.
[Graphical view]
SUPFAMiSSF53639. SSF53639. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiADDB_HUMAN
AccessioniPrimary (citable) accession number: P35612
Secondary accession number(s): A8K4P2
, B4DM17, D6W5G7, D6W5G8, Q13482, Q16412, Q59G82, Q5U5P4, Q6P0P2, Q6PGQ4, Q7Z688, Q7Z689, Q7Z690, Q7Z691
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 158 of the entry and version 3 of the sequence. [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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. SIMILARITY comments
    Index of protein domains and families

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.