SubmitCancel

Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q9BZE9

- ASPC1_HUMAN

UniProt

Q9BZE9 - ASPC1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein
Tether containing UBX domain for GLUT4
Gene
ASPSCR1, ASPL, RCC17, TUG, UBXD9, UBXN9
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Tethering protein that sequesters GLUT4-containing vesicles in the cytoplasm in the absence of insulin. Modulates the amount of GLUT4 that is available at the cell surface By similarity. Enhances VCP methylation catalyzed by VCPKMT.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei311 – 3122Breakpoint for translocation to form ASPSCR1-TFE3

GO - Molecular functioni

  1. protein binding Source: IntAct

GO - Biological processi

  1. glucose homeostasis Source: Ensembl
  2. intracellular protein transport Source: Ensembl
  3. membrane organization Source: Reactome
  4. regulation of glucose import Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_147867. Translocation of GLUT4 to the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Tether containing UBX domain for GLUT4
Alternative name(s):
Alveolar soft part sarcoma chromosomal region candidate gene 1 protein
Alveolar soft part sarcoma locus
Renal papillary cell carcinoma protein 17
UBX domain-containing protein 9
Gene namesi
Name:ASPSCR1
Synonyms:ASPL, RCC17, TUG, UBXD9, UBXN9
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:13825. ASPSCR1.

Subcellular locationi

Endomembrane system; Peripheral membrane protein By similarity. Cytoplasm. Nucleus 1 Publication

GO - Cellular componenti

  1. cytoplasmic side of plasma membrane Source: Ensembl
  2. cytosol Source: Ensembl
  3. endomembrane system Source: UniProtKB-SubCell
  4. extrinsic component of membrane Source: Ensembl
  5. nucleus Source: UniProtKB-SubCell
  6. perinuclear region of cytoplasm Source: Ensembl
  7. vesicle membrane Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving ASPSCR1 is found in patients with alveolar soft part sarcoma. Translocation t(X;17)(p11;q25) with TFE3 forms a ASPSCR1-TFE3 fusion protein.
A chromosomal aberration involving ASPSCR1 has been found in two patients with of papillary renal cell carcinoma. Translocation t(X;17)(p11.2;q25).

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

Orphaneti163699. Alveolar soft-tissue sarcoma.
319308. Translocation renal cell carcinoma.
PharmGKBiPA25058.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 553552Tether containing UBX domain for GLUT4
PRO_0000249885Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications
Modified residuei500 – 5001Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiQ9BZE9.
PaxDbiQ9BZE9.
PRIDEiQ9BZE9.

PTM databases

PhosphoSiteiQ9BZE9.

Expressioni

Tissue specificityi

Ubiquitous. Highly expressed in testis, heart, skeletal muscle and pancreas.2 Publications

Gene expression databases

ArrayExpressiQ9BZE9.
BgeeiQ9BZE9.
CleanExiHS_ASPSCR1.
GenevestigatoriQ9BZE9.

Organism-specific databases

HPAiHPA026749.

Interactioni

Subunit structurei

Interacts with GLUT4 By similarity. Interacts with VCPKMT.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
VCPP550723EBI-1993677,EBI-355164

Protein-protein interaction databases

BioGridi122516. 14 interactions.
IntActiQ9BZE9. 4 interactions.
MINTiMINT-4650542.
STRINGi9606.ENSP00000302176.

Structurei

3D structure databases

ProteinModelPortaliQ9BZE9.
SMRiQ9BZE9. Positions 10-85.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini386 – 46277UBX
Add
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni317 – 38064Interaction with GLUT4 By similarity
Add
BLAST

Sequence similaritiesi

Contains 1 UBX domain.

Phylogenomic databases

eggNOGiNOG317887.
HOGENOMiHOG000231241.
HOVERGENiHBG066860.
KOiK15627.
OMAiCIYMRDE.
OrthoDBiEOG7S7SF9.
PhylomeDBiQ9BZE9.
TreeFamiTF320363.

Family and domain databases

InterProiIPR021569. TUG/UBX4.
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
[Graphical view]
PfamiPF11470. TUG-UBL1. 1 hit.
PF00789. UBX. 1 hit.
[Graphical view]
SMARTiSM00166. UBX. 1 hit.
[Graphical view]
SUPFAMiSSF54236. SSF54236. 2 hits.
PROSITEiPS50033. UBX. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BZE9-1) [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

MAAPAGGGGS AVSVLAPNGR RHTVKVTPST VLLQVLEDTC RRQDFNPCEY    50
DLKFQRSVLD LSLQWRFANL PNNAKLEMVP ASRSREGPEN MVRIALQLDD 100
GSRLQDSFCS GQTLWELLSH FPQIRECLQH PGGATPVCVY TRDEVTGEAA 150
LRGTTLQSLG LTGGSATIRF VMKCYDPVGK TPGSLGSSAS AGQAAASAPL 200
PLESGELSRG DLSRPEDADT SGPCCEHTQE KQSTRAPAAA PFVPFSGGGQ 250
RLGGPPGPTR PLTSSSAKLP KSLSSPGGPS KPKKSKSGQD PQQEQEQERE 300
RDPQQEQERE RPVDREPVDR EPVVCHPDLE ERLQAWPAEL PDEFFELTVD 350
DVRRRLAQLK SERKRLEEAP LVTKAFREAQ IKEKLERYPK VALRVLFPDR 400
YVLQGFFRPS ETVGDLRDFV RSHLGNPELS FYLFITPPKT VLDDHTQTLF 450
QANLFPAALV HLGAEEPAGV YLEPGLLEHA ISPSAADVLV ARYMSRAAGS 500
PSPLPAPDPA PKSEPAAEEG ALVPPEPIPG TAQPVKRSLG KVPKWLKLPA 550
SKR 553
Length:553
Mass (Da):60,183
Last modified:June 1, 2001 - v1
Checksum:iB013FDF9A48D2E5E
GO
Isoform 2 (identifier: Q9BZE9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     451-451: Q → QPQLGDRVAP...AGHKHVGTGR

Show »
Length:647
Mass (Da):69,990
Checksum:i27A49239AB88E6AE
GO
Isoform 3 (identifier: Q9BZE9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     434-434: F → CLSSFGRMDGRGPRCFLTRRCLLSSV

Show »
Length:501
Mass (Da):54,485
Checksum:i46B09A36E32F6EA5
GO
Isoform 4 (identifier: Q9BZE9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-77: Missing.
     390-425: KVALRVLFPDRYVLQGFFRPSETVGDLRDFVRSHLG → RRSLSLSPRLESVVPSQLTASSASRVQVVLLPQPPK
     426-553: Missing.

Note: No experimental confirmation available.

Show »
Length:348
Mass (Da):37,910
Checksum:iE6CE5BE09E14AA97
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti252 – 2521L → Q.2 Publications
Corresponds to variant rs8074498 [ dbSNP | Ensembl ].
VAR_027503
Natural varianti318 – 3181V → M.
Corresponds to variant rs34085048 [ dbSNP | Ensembl ].
VAR_034745
Natural varianti487 – 4871D → E.
Corresponds to variant rs13087 [ dbSNP | Ensembl ].
VAR_027504

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 7777Missing in isoform 3 and isoform 4.
VSP_020574Add
BLAST
Alternative sequencei390 – 42536KVALR…RSHLG → RRSLSLSPRLESVVPSQLTA SSASRVQVVLLPQPPK in isoform 4.
VSP_020575Add
BLAST
Alternative sequencei426 – 553128Missing in isoform 4.
VSP_020576Add
BLAST
Alternative sequencei434 – 4341F → CLSSFGRMDGRGPRCFLTRR CLLSSV in isoform 3.
VSP_020577
Alternative sequencei451 – 4511Q → QPQLGDRVAPFTLGPSLKRC LGPEQRTRLPVVGDGGDVDS GRLLFWGPSRGRASPSTGQP PCHPVCRPSSPPSPRPSSGD PSRVKAGHKHVGTGR in isoform 2.
VSP_020578

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti257 – 2571G → E in BAB71595. 1 Publication
Sequence conflicti444 – 4441D → G in BAB71595. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF324219 mRNA. Translation: AAK08959.2.
AK057403 mRNA. Translation: BAB71472.1.
AK057851 mRNA. Translation: BAB71595.1.
AK290624 mRNA. Translation: BAF83313.1.
BC006152 mRNA. Translation: AAH06152.1.
BC018722 mRNA. Translation: AAH18722.1.
CCDSiCCDS11796.1. [Q9BZE9-1]
CCDS58611.1. [Q9BZE9-2]
RefSeqiNP_001238817.1. NM_001251888.1. [Q9BZE9-2]
NP_076988.1. NM_024083.3. [Q9BZE9-1]
UniGeneiHs.298351.

Genome annotation databases

EnsembliENST00000306729; ENSP00000306625; ENSG00000169696. [Q9BZE9-2]
ENST00000306739; ENSP00000302176; ENSG00000169696. [Q9BZE9-1]
ENST00000580534; ENSP00000462329; ENSG00000169696. [Q9BZE9-3]
GeneIDi79058.
KEGGihsa:79058.
UCSCiuc002kcx.3. human. [Q9BZE9-1]
uc002kcy.3. human. [Q9BZE9-2]
uc002kda.3. human. [Q9BZE9-3]

Polymorphism databases

DMDMi74717746.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF324219 mRNA. Translation: AAK08959.2 .
AK057403 mRNA. Translation: BAB71472.1 .
AK057851 mRNA. Translation: BAB71595.1 .
AK290624 mRNA. Translation: BAF83313.1 .
BC006152 mRNA. Translation: AAH06152.1 .
BC018722 mRNA. Translation: AAH18722.1 .
CCDSi CCDS11796.1. [Q9BZE9-1 ]
CCDS58611.1. [Q9BZE9-2 ]
RefSeqi NP_001238817.1. NM_001251888.1. [Q9BZE9-2 ]
NP_076988.1. NM_024083.3. [Q9BZE9-1 ]
UniGenei Hs.298351.

3D structure databases

ProteinModelPortali Q9BZE9.
SMRi Q9BZE9. Positions 10-85.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122516. 14 interactions.
IntActi Q9BZE9. 4 interactions.
MINTi MINT-4650542.
STRINGi 9606.ENSP00000302176.

PTM databases

PhosphoSitei Q9BZE9.

Polymorphism databases

DMDMi 74717746.

Proteomic databases

MaxQBi Q9BZE9.
PaxDbi Q9BZE9.
PRIDEi Q9BZE9.

Protocols and materials databases

DNASUi 79058.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000306729 ; ENSP00000306625 ; ENSG00000169696 . [Q9BZE9-2 ]
ENST00000306739 ; ENSP00000302176 ; ENSG00000169696 . [Q9BZE9-1 ]
ENST00000580534 ; ENSP00000462329 ; ENSG00000169696 . [Q9BZE9-3 ]
GeneIDi 79058.
KEGGi hsa:79058.
UCSCi uc002kcx.3. human. [Q9BZE9-1 ]
uc002kcy.3. human. [Q9BZE9-2 ]
uc002kda.3. human. [Q9BZE9-3 ]

Organism-specific databases

CTDi 79058.
GeneCardsi GC17P079935.
H-InvDB HIX0022398.
HGNCi HGNC:13825. ASPSCR1.
HPAi HPA026749.
MIMi 606236. gene.
neXtProti NX_Q9BZE9.
Orphaneti 163699. Alveolar soft-tissue sarcoma.
319308. Translocation renal cell carcinoma.
PharmGKBi PA25058.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG317887.
HOGENOMi HOG000231241.
HOVERGENi HBG066860.
KOi K15627.
OMAi CIYMRDE.
OrthoDBi EOG7S7SF9.
PhylomeDBi Q9BZE9.
TreeFami TF320363.

Enzyme and pathway databases

Reactomei REACT_147867. Translocation of GLUT4 to the plasma membrane.

Miscellaneous databases

ChiTaRSi ASPSCR1. human.
GeneWikii ASPSCR1.
GenomeRNAii 79058.
NextBioi 67822.
PROi Q9BZE9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BZE9.
Bgeei Q9BZE9.
CleanExi HS_ASPSCR1.
Genevestigatori Q9BZE9.

Family and domain databases

InterProi IPR021569. TUG/UBX4.
IPR029071. Ubiquitin-rel_dom.
IPR001012. UBX_dom.
[Graphical view ]
Pfami PF11470. TUG-UBL1. 1 hit.
PF00789. UBX. 1 hit.
[Graphical view ]
SMARTi SM00166. UBX. 1 hit.
[Graphical view ]
SUPFAMi SSF54236. SSF54236. 2 hits.
PROSITEi PS50033. UBX. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25."
    Ladanyi M., Lui M.Y., Antonescu C.R., Krause-Boehm A., Meindl A., Argani P., Healey J.H., Ueda T., Yoshikawa H., Meloni-Ehrig A., Sorensen P.H.B., Mertens F., Mandahl N., van den Berghe H., Sciot R., Dal Cin P., Bridge J.
    Oncogene 20:48-57(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), CHROMOSOMAL TRANSLOCATION WITH TFE3, TISSUE SPECIFICITY, INVOLVEMENT IN ASPS.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3), VARIANT GLN-252.
    Tissue: Brain, Heart and Testis.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), VARIANT GLN-252.
    Tissue: Eye and Skin.
  4. "Fusion of a novel gene, RCC17, to the TFE3 gene in t(X;17)(p11.2;q25.3)-bearing papillary renal cell carcinomas."
    Heimann P., El Housni H., Ogur G., Weterman M.A.J., Petty E.M., Vassart G.
    Cancer Res. 61:4130-4135(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH TFE3, TISSUE SPECIFICITY.
  5. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  7. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-500, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
    Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
    Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].
  9. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity."
    Cloutier P., Lavallee-Adam M., Faubert D., Blanchette M., Coulombe B.
    PLoS Genet. 9:E1003210-E1003210(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN VCP METHYLATION, INTERACTION WITH VCPKMT, SUBCELLULAR LOCATION.

Entry informationi

Entry nameiASPC1_HUMAN
AccessioniPrimary (citable) accession number: Q9BZE9
Secondary accession number(s): A8K3K9
, Q7Z6N7, Q8WV59, Q96LS5, Q96M40
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 19, 2006
Last sequence update: June 1, 2001
Last modified: September 3, 2014
This is version 98 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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

External Data

Dasty 3

Similar proteinsi