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Protein

Propionyl-CoA carboxylase beta chain, mitochondrial

Gene

PCCB

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

Functioni

Catalytic activityi

ATP + propanoyl-CoA + HCO3- = ADP + phosphate + (S)-methylmalonyl-CoA.

Pathwayi: propanoyl-CoA degradation

This protein is involved in step 1 of the subpathway that synthesizes succinyl-CoA from propanoyl-CoA.
Proteins known to be involved in the 3 steps of the subpathway in this organism are:
  1. Propionyl-CoA carboxylase alpha chain, mitochondrial (PCCA), Propionyl-CoA carboxylase beta chain, mitochondrial (PCCB)
  2. no protein annotated in this organism
  3. no protein annotated in this organism
This subpathway is part of the pathway propanoyl-CoA degradation, which is itself part of Metabolic intermediate metabolism.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes succinyl-CoA from propanoyl-CoA, the pathway propanoyl-CoA degradation and in Metabolic intermediate metabolism.

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • propionyl-CoA carboxylase activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Ligase

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:ENSG00000114054-MONOMER.
ReactomeiR-HSA-196780. Biotin transport and metabolism.
R-HSA-3371599. Defective HLCS causes multiple carboxylase deficiency.
R-HSA-71032. Propionyl-CoA catabolism.
SABIO-RKP05166.
UniPathwayiUPA00945; UER00908.

Names & Taxonomyi

Protein namesi
Recommended name:
Propionyl-CoA carboxylase beta chain, mitochondrial (EC:6.4.1.3)
Short name:
PCCase subunit beta
Alternative name(s):
Propanoyl-CoA:carbon dioxide ligase subunit beta
Gene namesi
Name:PCCB
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:8654. PCCB.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: Reactome
  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Propionic acidemia type II (PA-2)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionLife-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.
See also OMIM:606054
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171L → M in PA-2. 1 Publication
Corresponds to variant rs200185747 [ dbSNP | Ensembl ].
VAR_009080
Natural varianti44 – 441R → P in PA-2.
VAR_000271
Natural varianti67 – 671R → S in PA-2. 1 Publication
VAR_023847
Natural varianti106 – 1061S → R in PA-2.
VAR_000272
Natural varianti107 – 1071V → M in PA-2. 1 Publication
VAR_023848
Natural varianti112 – 1121G → D in PA-2. 1 Publication
Corresponds to variant rs202247818 [ dbSNP | Ensembl ].
VAR_023849
Natural varianti131 – 1311G → R in PA-2.
VAR_000273
Natural varianti140 – 1401K → KICK in PA-2.
VAR_009081
Natural varianti153 – 1531A → P in PA-2. 1 Publication
Corresponds to variant rs202247819 [ dbSNP | Ensembl ].
VAR_023850
Natural varianti165 – 1651R → Q in PA-2; does not affect either heteromeric or homomeric assembly. 2 Publications
VAR_023851
Natural varianti165 – 1651R → W in PA-2. 1 Publication
VAR_000274
Natural varianti168 – 1681E → K in PA-2; common mutation. 2 Publications
Corresponds to variant rs121964960 [ dbSNP | Ensembl ].
VAR_000275
Natural varianti188 – 1881G → R in PA-2. 1 Publication
Corresponds to variant rs746102997 [ dbSNP | Ensembl ].
VAR_023852
Natural varianti198 – 1981G → D in PA-2.
Corresponds to variant rs762354873 [ dbSNP | Ensembl ].
VAR_000276
Natural varianti205 – 2051V → D in PA-2. 1 Publication
VAR_009082
Natural varianti228 – 2281P → L in PA-2.
Corresponds to variant rs374722096 [ dbSNP | Ensembl ].
VAR_009083
Natural varianti246 – 2461G → V in PA-2. 1 Publication
VAR_023853
Natural varianti341 – 3411Missing in PA-2. 1 Publication
VAR_023854
Natural varianti408 – 4081Missing in PA-2. 2 Publications
VAR_000277
Natural varianti410 – 4101R → W in PA-2. 3 Publications
Corresponds to variant rs121964959 [ dbSNP | Ensembl ].
VAR_000278
Natural varianti428 – 4281T → I in PA-2. 2 Publications
Corresponds to variant rs28934887 [ dbSNP | Ensembl ].
VAR_009084
Natural varianti430 – 4301I → L in PA-2. 1 Publication
VAR_023855
Natural varianti435 – 4351Y → C in PA-2. 1 Publication
Corresponds to variant rs121964961 [ dbSNP | Ensembl ].
VAR_023856
Natural varianti439 – 4391Y → C in PA-2. 1 Publication
Corresponds to variant rs769521436 [ dbSNP | Ensembl ].
VAR_023857
Natural varianti442 – 4421M → T in PA-2. 1 Publication
VAR_009085
Natural varianti468 – 4681A → T in PA-2. 1 Publication
Corresponds to variant rs775563122 [ dbSNP | Ensembl ].
VAR_023858
Natural varianti497 – 4971A → V in PA-2; common mutation; does not affect either heteromeric or homomeric assembly. 1 Publication
Corresponds to variant rs142403318 [ dbSNP | Ensembl ].
VAR_000279
Natural varianti512 – 5121R → C in PA-2; affects heteromeric and homomeric assembly. 2 Publications
Corresponds to variant rs186710233 [ dbSNP | Ensembl ].
VAR_000280
Natural varianti519 – 5191L → P in PA-2; affects heteromeric and homomeric assembly. 1 Publication
Corresponds to variant rs202247822 [ dbSNP | Ensembl ].
VAR_000281
Natural varianti536 – 5361N → D in PA-2; affects heteromeric and homomeric assembly. 1 Publication
Corresponds to variant rs202247823 [ dbSNP | Ensembl ].
VAR_009086

Keywords - Diseasei

Disease mutation

Organism-specific databases

MalaCardsiPCCB.
MIMi606054. phenotype.
Orphaneti35. Propionic acidemia.
PharmGKBiPA32993.

Chemistry

DrugBankiDB00121. Biotin.
DB00161. L-Valine.

Polymorphism and mutation databases

BioMutaiPCCB.
DMDMi124106304.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2828Mitochondrion1 PublicationAdd
BLAST
Chaini29 – 539511Propionyl-CoA carboxylase beta chain, mitochondrialPRO_0000000293Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei71 – 711PhosphoserineCombined sources
Modified residuei99 – 991N6-acetyllysine; alternateBy similarity
Modified residuei99 – 991N6-succinyllysine; alternateBy similarity
Modified residuei248 – 2481N6-succinyllysineBy similarity
Modified residuei474 – 4741N6-acetyllysine; alternateBy similarity
Modified residuei474 – 4741N6-succinyllysine; alternateBy similarity
Modified residuei489 – 4891N6-acetyllysine; alternateBy similarity
Modified residuei489 – 4891N6-succinyllysine; alternateBy similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP05166.
MaxQBiP05166.
PaxDbiP05166.
PeptideAtlasiP05166.
PRIDEiP05166.

PTM databases

iPTMnetiP05166.
PhosphoSiteiP05166.

Expressioni

Gene expression databases

BgeeiENSG00000114054.
CleanExiHS_PCCB.
ExpressionAtlasiP05166. baseline and differential.
GenevisibleiP05166. HS.

Organism-specific databases

HPAiHPA036939.
HPA036940.

Interactioni

Subunit structurei

Probably a dodecamer composed of six biotin-containing alpha subunits and six beta subunits.

Protein-protein interaction databases

BioGridi111129. 14 interactions.
DIPiDIP-38244N.
IntActiP05166. 9 interactions.
MINTiMINT-3004663.
STRINGi9606.ENSP00000419027.

Structurei

3D structure databases

ProteinModelPortaliP05166.
SMRiP05166. Positions 37-539.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini38 – 531494CarboxyltransferaseAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni325 – 35834Acyl-CoA bindingSequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the AccD/PCCB family.Curated
Contains 1 carboxyltransferase domain.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG0540. Eukaryota.
COG4799. LUCA.
GeneTreeiENSGT00530000063337.
HOGENOMiHOG000218693.
HOVERGENiHBG003970.
InParanoidiP05166.
KOiK01966.
PhylomeDBiP05166.
TreeFamiTF314350.

Family and domain databases

Gene3Di3.90.226.10. 2 hits.
InterProiIPR000022. Carboxyl_trans.
IPR029045. ClpP/crotonase-like_dom.
IPR011763. COA_CT_C.
IPR011762. COA_CT_N.
[Graphical view]
PfamiPF01039. Carboxyl_trans. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 2 hits.
PROSITEiPS50989. COA_CT_CTER. 1 hit.
PS50980. COA_CT_NTER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P05166-1) [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
MAAALRVAAV GARLSVLASG LRAAVRSLCS QATSVNERIE NKRRTALLGG
60 70 80 90 100
GQRRIDAQHK RGKLTARERI SLLLDPGSFV ESDMFVEHRC ADFGMAADKN
110 120 130 140 150
KFPGDSVVTG RGRINGRLVY VFSQDFTVFG GSLSGAHAQK ICKIMDQAIT
160 170 180 190 200
VGAPVIGLND SGGARIQEGV ESLAGYADIF LRNVTASGVI PQISLIMGPC
210 220 230 240 250
AGGAVYSPAL TDFTFMVKDT SYLFITGPDV VKSVTNEDVT QEELGGAKTH
260 270 280 290 300
TTMSGVAHRA FENDVDALCN LRDFFNYLPL SSQDPAPVRE CHDPSDRLVP
310 320 330 340 350
ELDTIVPLES TKAYNMVDII HSVVDEREFF EIMPNYAKNI IVGFARMNGR
360 370 380 390 400
TVGIVGNQPK VASGCLDINS SVKGARFVRF CDAFNIPLIT FVDVPGFLPG
410 420 430 440 450
TAQEYGGIIR HGAKLLYAFA EATVPKVTVI TRKAYGGAYD VMSSKHLCGD
460 470 480 490 500
TNYAWPTAEI AVMGAKGAVE IIFKGHENVE AAQAEYIEKF ANPFPAAVRG
510 520 530
FVDDIIQPSS TRARICCDLD VLASKKVQRP WRKHANIPL
Length:539
Mass (Da):58,216
Last modified:January 23, 2007 - v3
Checksum:iA2DAAC00312D3C0F
GO
Isoform 2 (identifier: P05166-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     124-124: Q → QQIIGWAQWLPLVISALWEAE

Note: No experimental confirmation available.
Show »
Length:559
Mass (Da):60,521
Checksum:i07788B2E955626AA
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti58 – 592QH → HD in AAB28900 (PubMed:8225321).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti17 – 171L → M in PA-2. 1 Publication
Corresponds to variant rs200185747 [ dbSNP | Ensembl ].
VAR_009080
Natural varianti44 – 441R → P in PA-2.
VAR_000271
Natural varianti67 – 671R → S in PA-2. 1 Publication
VAR_023847
Natural varianti106 – 1061S → R in PA-2.
VAR_000272
Natural varianti107 – 1071V → M in PA-2. 1 Publication
VAR_023848
Natural varianti112 – 1121G → D in PA-2. 1 Publication
Corresponds to variant rs202247818 [ dbSNP | Ensembl ].
VAR_023849
Natural varianti131 – 1311G → R in PA-2.
VAR_000273
Natural varianti140 – 1401K → KICK in PA-2.
VAR_009081
Natural varianti153 – 1531A → P in PA-2. 1 Publication
Corresponds to variant rs202247819 [ dbSNP | Ensembl ].
VAR_023850
Natural varianti165 – 1651R → Q in PA-2; does not affect either heteromeric or homomeric assembly. 2 Publications
VAR_023851
Natural varianti165 – 1651R → W in PA-2. 1 Publication
VAR_000274
Natural varianti168 – 1681E → K in PA-2; common mutation. 2 Publications
Corresponds to variant rs121964960 [ dbSNP | Ensembl ].
VAR_000275
Natural varianti188 – 1881G → R in PA-2. 1 Publication
Corresponds to variant rs746102997 [ dbSNP | Ensembl ].
VAR_023852
Natural varianti198 – 1981G → D in PA-2.
Corresponds to variant rs762354873 [ dbSNP | Ensembl ].
VAR_000276
Natural varianti205 – 2051V → D in PA-2. 1 Publication
VAR_009082
Natural varianti228 – 2281P → L in PA-2.
Corresponds to variant rs374722096 [ dbSNP | Ensembl ].
VAR_009083
Natural varianti246 – 2461G → V in PA-2. 1 Publication
VAR_023853
Natural varianti287 – 2871P → S.1 Publication
Corresponds to variant rs2228310 [ dbSNP | Ensembl ].
VAR_048163
Natural varianti341 – 3411Missing in PA-2. 1 Publication
VAR_023854
Natural varianti408 – 4081Missing in PA-2. 2 Publications
VAR_000277
Natural varianti410 – 4101R → W in PA-2. 3 Publications
Corresponds to variant rs121964959 [ dbSNP | Ensembl ].
VAR_000278
Natural varianti428 – 4281T → I in PA-2. 2 Publications
Corresponds to variant rs28934887 [ dbSNP | Ensembl ].
VAR_009084
Natural varianti430 – 4301I → L in PA-2. 1 Publication
VAR_023855
Natural varianti435 – 4351Y → C in PA-2. 1 Publication
Corresponds to variant rs121964961 [ dbSNP | Ensembl ].
VAR_023856
Natural varianti439 – 4391Y → C in PA-2. 1 Publication
Corresponds to variant rs769521436 [ dbSNP | Ensembl ].
VAR_023857
Natural varianti442 – 4421M → T in PA-2. 1 Publication
VAR_009085
Natural varianti468 – 4681A → T in PA-2. 1 Publication
Corresponds to variant rs775563122 [ dbSNP | Ensembl ].
VAR_023858
Natural varianti497 – 4971A → V in PA-2; common mutation; does not affect either heteromeric or homomeric assembly. 1 Publication
Corresponds to variant rs142403318 [ dbSNP | Ensembl ].
VAR_000279
Natural varianti512 – 5121R → C in PA-2; affects heteromeric and homomeric assembly. 2 Publications
Corresponds to variant rs186710233 [ dbSNP | Ensembl ].
VAR_000280
Natural varianti519 – 5191L → P in PA-2; affects heteromeric and homomeric assembly. 1 Publication
Corresponds to variant rs202247822 [ dbSNP | Ensembl ].
VAR_000281
Natural varianti536 – 5361N → D in PA-2; affects heteromeric and homomeric assembly. 1 Publication
Corresponds to variant rs202247823 [ dbSNP | Ensembl ].
VAR_009086

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei124 – 1241Q → QQIIGWAQWLPLVISALWEA E in isoform 2. 1 PublicationVSP_042568

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X73424 mRNA. Translation: CAA51825.1.
S67325 mRNA. Translation: AAB28900.1.
AJ006487
, AJ006488, AJ006489, AJ006490, AJ006491, AJ006492, AJ006493, AJ006494, AJ006495, AJ006496, AJ006497, AJ006498, AJ006499 Genomic DNA. Translation: CAA07066.1.
AK295312 mRNA. Translation: BAH12030.1.
AC069524 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79118.1.
BC013768 mRNA. Translation: AAH13768.1.
BC053661 mRNA. Translation: AAH53661.1.
M13573 mRNA. Translation: AAA60036.1.
M31167 Genomic DNA. Translation: AAA60037.1.
M31169 Genomic DNA. Translation: AAA60038.1.
CCDSiCCDS3089.1. [P05166-1]
CCDS54643.1. [P05166-2]
PIRiT45009.
RefSeqiNP_000523.2. NM_000532.4. [P05166-1]
NP_001171485.1. NM_001178014.1. [P05166-2]
UniGeneiHs.63788.

Genome annotation databases

EnsembliENST00000251654; ENSP00000251654; ENSG00000114054. [P05166-1]
ENST00000469217; ENSP00000419027; ENSG00000114054. [P05166-2]
GeneIDi5096.
KEGGihsa:5096.
UCSCiuc003eqy.3. human. [P05166-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X73424 mRNA. Translation: CAA51825.1.
S67325 mRNA. Translation: AAB28900.1.
AJ006487
, AJ006488, AJ006489, AJ006490, AJ006491, AJ006492, AJ006493, AJ006494, AJ006495, AJ006496, AJ006497, AJ006498, AJ006499 Genomic DNA. Translation: CAA07066.1.
AK295312 mRNA. Translation: BAH12030.1.
AC069524 Genomic DNA. No translation available.
CH471052 Genomic DNA. Translation: EAW79118.1.
BC013768 mRNA. Translation: AAH13768.1.
BC053661 mRNA. Translation: AAH53661.1.
M13573 mRNA. Translation: AAA60036.1.
M31167 Genomic DNA. Translation: AAA60037.1.
M31169 Genomic DNA. Translation: AAA60038.1.
CCDSiCCDS3089.1. [P05166-1]
CCDS54643.1. [P05166-2]
PIRiT45009.
RefSeqiNP_000523.2. NM_000532.4. [P05166-1]
NP_001171485.1. NM_001178014.1. [P05166-2]
UniGeneiHs.63788.

3D structure databases

ProteinModelPortaliP05166.
SMRiP05166. Positions 37-539.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111129. 14 interactions.
DIPiDIP-38244N.
IntActiP05166. 9 interactions.
MINTiMINT-3004663.
STRINGi9606.ENSP00000419027.

Chemistry

DrugBankiDB00121. Biotin.
DB00161. L-Valine.

PTM databases

iPTMnetiP05166.
PhosphoSiteiP05166.

Polymorphism and mutation databases

BioMutaiPCCB.
DMDMi124106304.

Proteomic databases

EPDiP05166.
MaxQBiP05166.
PaxDbiP05166.
PeptideAtlasiP05166.
PRIDEiP05166.

Protocols and materials databases

DNASUi5096.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000251654; ENSP00000251654; ENSG00000114054. [P05166-1]
ENST00000469217; ENSP00000419027; ENSG00000114054. [P05166-2]
GeneIDi5096.
KEGGihsa:5096.
UCSCiuc003eqy.3. human. [P05166-1]

Organism-specific databases

CTDi5096.
GeneCardsiPCCB.
GeneReviewsiPCCB.
HGNCiHGNC:8654. PCCB.
HPAiHPA036939.
HPA036940.
MalaCardsiPCCB.
MIMi232050. gene.
606054. phenotype.
neXtProtiNX_P05166.
Orphaneti35. Propionic acidemia.
PharmGKBiPA32993.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0540. Eukaryota.
COG4799. LUCA.
GeneTreeiENSGT00530000063337.
HOGENOMiHOG000218693.
HOVERGENiHBG003970.
InParanoidiP05166.
KOiK01966.
PhylomeDBiP05166.
TreeFamiTF314350.

Enzyme and pathway databases

UniPathwayiUPA00945; UER00908.
BioCyciMetaCyc:ENSG00000114054-MONOMER.
ReactomeiR-HSA-196780. Biotin transport and metabolism.
R-HSA-3371599. Defective HLCS causes multiple carboxylase deficiency.
R-HSA-71032. Propionyl-CoA catabolism.
SABIO-RKP05166.

Miscellaneous databases

ChiTaRSiPCCB. human.
GenomeRNAii5096.
PROiP05166.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000114054.
CleanExiHS_PCCB.
ExpressionAtlasiP05166. baseline and differential.
GenevisibleiP05166. HS.

Family and domain databases

Gene3Di3.90.226.10. 2 hits.
InterProiIPR000022. Carboxyl_trans.
IPR029045. ClpP/crotonase-like_dom.
IPR011763. COA_CT_C.
IPR011762. COA_CT_N.
[Graphical view]
PfamiPF01039. Carboxyl_trans. 1 hit.
[Graphical view]
SUPFAMiSSF52096. SSF52096. 2 hits.
PROSITEiPS50989. COA_CT_CTER. 1 hit.
PS50980. COA_CT_NTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPCCB_HUMAN
AccessioniPrimary (citable) accession number: P05166
Secondary accession number(s): B7Z2Z4, Q16813, Q96CX0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 13, 1987
Last sequence update: January 23, 2007
Last modified: September 7, 2016
This is version 167 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 3
    Human chromosome 3: 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. 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.