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Protein

Kelch-like protein 7

Gene

KLHL7

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

Functioni

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex. The BCR(KLHL7) complex acts by mediating ubiquitination and subsequent degradation of substrate proteins. Probably mediates 'Lys-48'-linked ubiquitination.1 Publication

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • protein homodimerization activity Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processUbl conjugation pathway

Enzyme and pathway databases

UniPathwayi
UPA00143

Names & Taxonomyi

Protein namesi
Recommended name:
Kelch-like protein 7
Gene namesi
Name:KLHL7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000122550.17
HGNCiHGNC:15646 KLHL7
MIMi611119 gene
neXtProtiNX_Q8IXQ5

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, Nucleus

Pathology & Biotechi

Involvement in diseasei

Crisponi/Cold-induced sweating syndrome 3 (CISS3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of cold-induced sweating syndrome, an autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
See also OMIM:617055
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_077161372R → Q in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255558EnsemblClinVar.1
Natural variantiVAR_077162420R → C in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs780705654EnsemblClinVar.1
Natural variantiVAR_077163421C → S in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255556EnsemblClinVar.1
Retinitis pigmentosa 42 (RP42)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:612943
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060672150S → N in RP42. 2 PublicationsCorresponds to variant dbSNP:rs137853112EnsemblClinVar.1
Natural variantiVAR_060673153A → T in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 3 PublicationsCorresponds to variant dbSNP:rs137853114EnsemblClinVar.1
Natural variantiVAR_060674153A → V in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 4 PublicationsCorresponds to variant dbSNP:rs137853113EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi55975
GeneReviewsiKLHL7
MalaCardsiKLHL7
MIMi612943 phenotype
617055 phenotype
OpenTargetsiENSG00000122550
Orphaneti97297 Bohring-Opitz syndrome
157820 Cold-induced sweating syndrome
791 Retinitis pigmentosa
PharmGKBiPA38392

Polymorphism and mutation databases

BioMutaiKLHL7
DMDMi116242609

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002289881 – 586Kelch-like protein 7Add BLAST586

Proteomic databases

EPDiQ8IXQ5
MaxQBiQ8IXQ5
PaxDbiQ8IXQ5
PeptideAtlasiQ8IXQ5
PRIDEiQ8IXQ5
ProteomicsDBi71041
71042 [Q8IXQ5-2]
71043 [Q8IXQ5-3]
71044 [Q8IXQ5-4]

PTM databases

iPTMnetiQ8IXQ5
PhosphoSitePlusiQ8IXQ5

Expressioni

Tissue specificityi

Widely expressed, with highest levels in adult and fetal heart, CNS and adult testis.1 Publication

Gene expression databases

BgeeiENSG00000122550 Expressed in 214 organ(s), highest expression level in oocyte
CleanExiHS_KLHL7
ExpressionAtlasiQ8IXQ5 baseline and differential
GenevisibleiQ8IXQ5 HS

Organism-specific databases

HPAiHPA029491
HPA029492

Interactioni

Subunit structurei

Homodimer. Component of the BCR(KLHL7) E3 ubiquitin ligase complex, at least composed of CUL3 and KLHL7 and RBX1.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi121021, 31 interactors
IntActiQ8IXQ5, 18 interactors
STRINGi9606.ENSP00000343273

Structurei

Secondary structure

1586
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ8IXQ5
SMRiQ8IXQ5
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8IXQ5

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini44 – 111BTBPROSITE-ProRule annotationAdd BLAST68
Domaini146 – 248BACKAdd BLAST103
Repeati294 – 336Kelch 1Add BLAST43
Repeati337 – 382Kelch 2Add BLAST46
Repeati383 – 430Kelch 3Add BLAST48
Repeati431 – 481Kelch 4Add BLAST51
Repeati483 – 528Kelch 5Add BLAST46
Repeati530 – 575Kelch 6Add BLAST46

Keywords - Domaini

Kelch repeat, Repeat

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150851
HOGENOMiHOG000230816
HOVERGENiHBG106113
InParanoidiQ8IXQ5
KOiK10445
OMAiNNCEVYD
OrthoDBiEOG091G03G7
PhylomeDBiQ8IXQ5
TreeFamiTF351653

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030599 KLHL7
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF216 PTHR24412:SF216, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 3 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 4 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IXQ5-1) [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
MAASGVEKSS KKKTEKKLAA REEAKLLAGF MGVMNNMRKQ KTLCDVILMV
60 70 80 90 100
QERKIPAHRV VLAAASHFFN LMFTTNMLES KSFEVELKDA EPDIIEQLVE
110 120 130 140 150
FAYTARISVN SNNVQSLLDA ANQYQIEPVK KMCVDFLKEQ VDASNCLGIS
160 170 180 190 200
VLAECLDCPE LKATADDFIH QHFTEVYKTD EFLQLDVKRV THLLNQDTLT
210 220 230 240 250
VRAEDQVYDA AVRWLKYDEP NRQPFMVDIL AKVRFPLISK NFLSKTVQAE
260 270 280 290 300
PLIQDNPECL KMVISGMRYH LLSPEDREEL VDGTRPRRKK HDYRIALFGG
310 320 330 340 350
SQPQSCRYFN PKDYSWTDIR CPFEKRRDAA CVFWDNVVYI LGGSQLFPIK
360 370 380 390 400
RMDCYNVVKD SWYSKLGPPT PRDSLAACAA EGKIYTSGGS EVGNSALYLF
410 420 430 440 450
ECYDTRTESW HTKPSMLTQR CSHGMVEANG LIYVCGGSLG NNVSGRVLNS
460 470 480 490 500
CEVYDPATET WTELCPMIEA RKNHGLVFVK DKIFAVGGQN GLGGLDNVEY
510 520 530 540 550
YDIKLNEWKM VSPMPWKGVT VKCAAVGSIV YVLAGFQGVG RLGHILEYNT
560 570 580
ETDKWVANSK VRAFPVTSCL ICVVDTCGAN EETLET
Length:586
Mass (Da):65,992
Last modified:October 17, 2006 - v2
Checksum:iFA4ED8F1567AC7A8
GO
Isoform 2 (identifier: Q8IXQ5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK

Show »
Length:564
Mass (Da):63,601
Checksum:iD5FFE152DEA3D63E
GO
Isoform 3 (identifier: Q8IXQ5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     149-166: ISVLAECLDCPELKATAD → EAEKVDQSLPECGMLFTV
     167-586: Missing.

Show »
Length:166
Mass (Da):18,568
Checksum:iD48BE4F0B94F1386
GO
Isoform 4 (identifier: Q8IXQ5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-40: MAASGVEKSSKKKTEKKLAAREEAKLLAGFMGVMNNMRKQ → MLGGTDCRTFLTSHINLK
     149-166: ISVLAECLDCPELKATAD → EAEKVDQSLPECGMLFTV
     167-586: Missing.

Show »
Length:144
Mass (Da):16,177
Checksum:i90CD7ACD869455D7
GO
Isoform 5 (identifier: Q8IXQ5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-48: Missing.

Show »
Length:538
Mass (Da):60,725
Checksum:i8B7ABA54C28D56C1
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C259H7C259_HUMAN
Kelch-like protein 7
KLHL7
93Annotation score:
E5RFN1E5RFN1_HUMAN
Kelch-like protein 7
KLHL7
40Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti85V → L in AAH39585 (PubMed:15489334).Curated1
Sequence conflicti138K → R in BAB71175 (PubMed:14702039).Curated1
Sequence conflicti507E → D in BAH12925 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060672150S → N in RP42. 2 PublicationsCorresponds to variant dbSNP:rs137853112EnsemblClinVar.1
Natural variantiVAR_060673153A → T in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 3 PublicationsCorresponds to variant dbSNP:rs137853114EnsemblClinVar.1
Natural variantiVAR_060674153A → V in RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. 4 PublicationsCorresponds to variant dbSNP:rs137853113EnsemblClinVar.1
Natural variantiVAR_060675255D → N in a patient with retinitis pigmentosa; uncertain pathological significance. 1 Publication1
Natural variantiVAR_077161372R → Q in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255558EnsemblClinVar.1
Natural variantiVAR_077162420R → C in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs780705654EnsemblClinVar.1
Natural variantiVAR_077163421C → S in CISS3; subcellular localization in punctate structures at the perinuclear region of cytoplasm is similar to wild-type and colocalized with CUL3. 1 PublicationCorresponds to variant dbSNP:rs879255556EnsemblClinVar.1
Natural variantiVAR_060676423H → Y1 Publication1
Natural variantiVAR_060677472K → Q in a patient with retinitis pigmentosa; uncertain pathological significance. 1 Publication1
Isoform 2 (identifier: Q8IXQ5-2)
Natural varianti18K → R. Corresponds to variant dbSNP:rs17147682Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0469741 – 48Missing in isoform 5. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_0384161 – 40MAASG…NMRKQ → MLGGTDCRTFLTSHINLK in isoform 2 and isoform 4. 3 PublicationsAdd BLAST40
Alternative sequenceiVSP_038417149 – 166ISVLA…KATAD → EAEKVDQSLPECGMLFTV in isoform 3 and isoform 4. 2 PublicationsAdd BLAST18
Alternative sequenceiVSP_038418167 – 586Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST420

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111113 mRNA Translation: AAF27196.1
AL136597 mRNA Translation: CAB66532.1
AK056390 mRNA Translation: BAB71175.1
AK299006 mRNA Translation: BAH12925.1
EF560731 mRNA Translation: ABQ59041.1
AC005082 Genomic DNA No translation available.
AC006039 Genomic DNA Translation: AAO21916.1
AC073992 Genomic DNA No translation available.
CH236948 Genomic DNA Translation: EAL24261.1
CH471073 Genomic DNA Translation: EAW93770.1
CH471073 Genomic DNA Translation: EAW93773.1
CH471073 Genomic DNA Translation: EAW93774.1
BC009555 mRNA Translation: AAH09555.1
BC039585 mRNA Translation: AAH39585.1
CCDSiCCDS34609.1 [Q8IXQ5-1]
CCDS5378.2 [Q8IXQ5-5]
CCDS55095.1 [Q8IXQ5-3]
RefSeqiNP_001026880.2, NM_001031710.2 [Q8IXQ5-1]
NP_001165899.1, NM_001172428.1 [Q8IXQ5-3]
NP_061334.4, NM_018846.4 [Q8IXQ5-5]
XP_016867928.1, XM_017012439.1 [Q8IXQ5-2]
UniGeneiHs.654817

Genome annotation databases

EnsembliENST00000322275; ENSP00000323270; ENSG00000122550 [Q8IXQ5-3]
ENST00000339077; ENSP00000343273; ENSG00000122550 [Q8IXQ5-1]
ENST00000409689; ENSP00000386263; ENSG00000122550 [Q8IXQ5-5]
ENST00000410047; ENSP00000386999; ENSG00000122550 [Q8IXQ5-4]
GeneIDi55975
KEGGihsa:55975
UCSCiuc003svq.4 human [Q8IXQ5-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF111113 mRNA Translation: AAF27196.1
AL136597 mRNA Translation: CAB66532.1
AK056390 mRNA Translation: BAB71175.1
AK299006 mRNA Translation: BAH12925.1
EF560731 mRNA Translation: ABQ59041.1
AC005082 Genomic DNA No translation available.
AC006039 Genomic DNA Translation: AAO21916.1
AC073992 Genomic DNA No translation available.
CH236948 Genomic DNA Translation: EAL24261.1
CH471073 Genomic DNA Translation: EAW93770.1
CH471073 Genomic DNA Translation: EAW93773.1
CH471073 Genomic DNA Translation: EAW93774.1
BC009555 mRNA Translation: AAH09555.1
BC039585 mRNA Translation: AAH39585.1
CCDSiCCDS34609.1 [Q8IXQ5-1]
CCDS5378.2 [Q8IXQ5-5]
CCDS55095.1 [Q8IXQ5-3]
RefSeqiNP_001026880.2, NM_001031710.2 [Q8IXQ5-1]
NP_001165899.1, NM_001172428.1 [Q8IXQ5-3]
NP_061334.4, NM_018846.4 [Q8IXQ5-5]
XP_016867928.1, XM_017012439.1 [Q8IXQ5-2]
UniGeneiHs.654817

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3II7X-ray1.63A283-586[»]
ProteinModelPortaliQ8IXQ5
SMRiQ8IXQ5
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121021, 31 interactors
IntActiQ8IXQ5, 18 interactors
STRINGi9606.ENSP00000343273

PTM databases

iPTMnetiQ8IXQ5
PhosphoSitePlusiQ8IXQ5

Polymorphism and mutation databases

BioMutaiKLHL7
DMDMi116242609

Proteomic databases

EPDiQ8IXQ5
MaxQBiQ8IXQ5
PaxDbiQ8IXQ5
PeptideAtlasiQ8IXQ5
PRIDEiQ8IXQ5
ProteomicsDBi71041
71042 [Q8IXQ5-2]
71043 [Q8IXQ5-3]
71044 [Q8IXQ5-4]

Protocols and materials databases

DNASUi55975
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322275; ENSP00000323270; ENSG00000122550 [Q8IXQ5-3]
ENST00000339077; ENSP00000343273; ENSG00000122550 [Q8IXQ5-1]
ENST00000409689; ENSP00000386263; ENSG00000122550 [Q8IXQ5-5]
ENST00000410047; ENSP00000386999; ENSG00000122550 [Q8IXQ5-4]
GeneIDi55975
KEGGihsa:55975
UCSCiuc003svq.4 human [Q8IXQ5-1]

Organism-specific databases

CTDi55975
DisGeNETi55975
EuPathDBiHostDB:ENSG00000122550.17
GeneCardsiKLHL7
GeneReviewsiKLHL7
HGNCiHGNC:15646 KLHL7
HPAiHPA029491
HPA029492
MalaCardsiKLHL7
MIMi611119 gene
612943 phenotype
617055 phenotype
neXtProtiNX_Q8IXQ5
OpenTargetsiENSG00000122550
Orphaneti97297 Bohring-Opitz syndrome
157820 Cold-induced sweating syndrome
791 Retinitis pigmentosa
PharmGKBiPA38392
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4441 Eukaryota
ENOG410XNX8 LUCA
GeneTreeiENSGT00930000150851
HOGENOMiHOG000230816
HOVERGENiHBG106113
InParanoidiQ8IXQ5
KOiK10445
OMAiNNCEVYD
OrthoDBiEOG091G03G7
PhylomeDBiQ8IXQ5
TreeFamiTF351653

Enzyme and pathway databases

UniPathwayi
UPA00143

Miscellaneous databases

ChiTaRSiKLHL7 human
EvolutionaryTraceiQ8IXQ5
GeneWikiiKLHL7
GenomeRNAii55975
PROiPR:Q8IXQ5
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122550 Expressed in 214 organ(s), highest expression level in oocyte
CleanExiHS_KLHL7
ExpressionAtlasiQ8IXQ5 baseline and differential
GenevisibleiQ8IXQ5 HS

Family and domain databases

Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011705 BACK
IPR017096 BTB-kelch_protein
IPR000210 BTB/POZ_dom
IPR015915 Kelch-typ_b-propeller
IPR006652 Kelch_1
IPR030599 KLHL7
IPR011333 SKP1/BTB/POZ_sf
PANTHERiPTHR24412:SF216 PTHR24412:SF216, 1 hit
PfamiView protein in Pfam
PF07707 BACK, 1 hit
PF00651 BTB, 1 hit
PF01344 Kelch_1, 3 hits
PIRSFiPIRSF037037 Kelch-like_protein_gigaxonin, 1 hit
SMARTiView protein in SMART
SM00875 BACK, 1 hit
SM00225 BTB, 1 hit
SM00612 Kelch, 4 hits
SUPFAMiSSF117281 SSF117281, 1 hit
SSF54695 SSF54695, 1 hit
PROSITEiView protein in PROSITE
PS50097 BTB, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiKLHL7_HUMAN
AccessioniPrimary (citable) accession number: Q8IXQ5
Secondary accession number(s): A4D144
, B7Z5I9, G5E9G3, Q7Z765, Q96MV2, Q9BQF8, Q9UDQ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 17, 2006
Last modified: November 7, 2018
This is version 146 of the entry and version 2 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. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
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