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Q9UHJ9

- PGAP2_HUMAN

UniProt

Q9UHJ9 - PGAP2_HUMAN

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Protein
Post-GPI attachment to proteins factor 2
Gene
PGAP2, FRAG1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Involved in the lipid remodeling steps of GPI-anchor maturation. Required for stable expression of GPI-anchored proteins at the cell surface By similarity.

GO - Molecular functioni

  1. protein transporter activity Source: UniProtKB

GO - Biological processi

  1. GPI anchor biosynthetic process Source: UniProtKB
  2. intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator Source: Ensembl
  3. negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage Source: Ensembl
  4. signal transduction in response to DNA damage Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

GPI-anchor biosynthesis

Protein family/group databases

TCDBi9.B.131.1.2. the post-gpi attachment protein (p-gap2) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Post-GPI attachment to proteins factor 2
Alternative name(s):
FGF receptor-activating protein 1
Gene namesi
Name:PGAP2
Synonyms:FRAG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 11

Organism-specific databases

HGNCiHGNC:17893. PGAP2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2323Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei24 – 4421Helical; Reviewed prediction
Add
BLAST
Topological domaini45 – 11470Lumenal Reviewed prediction
Add
BLAST
Transmembranei115 – 13521Helical; Reviewed prediction
Add
BLAST
Topological domaini136 – 1438Cytoplasmic Reviewed prediction
Transmembranei144 – 16421Helical; Reviewed prediction
Add
BLAST
Topological domaini165 – 18521Lumenal Reviewed prediction
Add
BLAST
Transmembranei186 – 20621Helical; Reviewed prediction
Add
BLAST
Topological domaini207 – 2093Cytoplasmic Reviewed prediction
Transmembranei210 – 23021Helical; Reviewed prediction
Add
BLAST
Topological domaini231 – 25424Lumenal Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB
  2. endoplasmic reticulum membrane Source: UniProtKB
  3. integral component of membrane Source: ProtInc
  4. nucleus Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Golgi apparatus, Membrane

Pathology & Biotechi

Involvement in diseasei

Hyperphosphatasia with mental retardation syndrome 3 (HPMRS3) [MIM:614207]: An autosomal recessive disorder usually characterized by mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161R → W in HPMRS3. 1 Publication
VAR_069664
Natural varianti99 – 991Y → C in HPMRS3. 1 Publication
VAR_069665
Natural varianti127 – 1271L → S in HPMRS3. 1 Publication
VAR_069666
Natural varianti160 – 1601T → I in HPMRS3. 1 Publication
VAR_069667
Natural varianti177 – 1771R → P in HPMRS3. 1 Publication
VAR_069668

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

MIMi614207. phenotype.
Orphaneti247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBiPA165543520.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 254254Post-GPI attachment to proteins factor 2
PRO_0000326094Add
BLAST

Proteomic databases

MaxQBiQ9UHJ9.
PaxDbiQ9UHJ9.
PRIDEiQ9UHJ9.

Expressioni

Tissue specificityi

Ubiquitously expressed, with highest levels in testis and pancreas.1 Publication

Gene expression databases

ArrayExpressiQ9UHJ9.
BgeeiQ9UHJ9.
GenevestigatoriQ9UHJ9.

Organism-specific databases

HPAiHPA063099.

Interactioni

Subunit structurei

Interacts with PGAP2IP By similarity.

Protein-protein interaction databases

STRINGi9606.ENSP00000278243.

Structurei

3D structure databases

ProteinModelPortaliQ9UHJ9.

Family & Domainsi

Sequence similaritiesi

Belongs to the PGAP2 family.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG309644.
HOGENOMiHOG000006821.
HOVERGENiHBG053417.
InParanoidiQ9UHJ9.
TreeFamiTF314112.

Family and domain databases

InterProiIPR019402. Frag1/DRAM/Sfk1.
[Graphical view]
PfamiPF10277. Frag1. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. Align

Isoform 2 (identifier: Q9UHJ9-1) [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

MYQVPLPLDR DGTLVRLRFT MVALVTVCCP LVAFLFCILW SLLFHFKETT    50
ATHCGVPNYL PSVSSAIGGE VPQRYVWRFC IGLHSAPRFL VAFAYWNHYL 100
SCTSPCSCYR PLCRLNFGLN VVENLALLVL TYVSSSEDFT IHENAFIVFI 150
ASSLGHMLLT CILWRLTKKH TVSQEDRKSY SWKQRLFIIN FISFFSALAV 200
YFRHNMYCEA GVYTIFAILE YTVVLTNMAF HMTAWWDFGN KELLITSQPE 250
EKRF 254
Length:254
Mass (Da):29,400
Last modified:September 18, 2013 - v2
Checksum:i2FB502D505DCCF64
GO
Isoform 1 (identifier: Q9UHJ9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     55-55: G → GATPCRMFSAASQPLDPDGTLFRLRFTAMVWWAITFPVFGFFFCIIWSLVFHFEYTVATDCG

Note: This isoform is predicted to contain an additional transmembrane domain at position 85-105. If this domain exists, the topology of the protein would be modified, possibly challenging the GPI-anchor remodeling function of the protein.

Show »
Length:315
Mass (Da):36,417
Checksum:i64F89733A1F6270E
GO
Isoform 3 (identifier: Q9UHJ9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     172-175: Missing.

Show »
Length:250
Mass (Da):28,957
Checksum:i6B8A396B2A362942
GO
Isoform 4 (identifier: Q9UHJ9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     176-232: DRKSYSWKQR...VVLTNMAFHM → VRSIPSGGSK...GCLLSAQHVL
     233-254: Missing.

Note: No experimental confirmation available.

Show »
Length:232
Mass (Da):25,834
Checksum:i4D03E66290A066A2
GO
Isoform 5 (identifier: Q9UHJ9-5) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MARLGSTGGVSGRVVTQHRDSAPFLGAPRLGLRELGPIRGTAPEWHGRWNAAERSDKM
     172-175: Missing.

Note: No experimental confirmation available.

Show »
Length:307
Mass (Da):35,076
Checksum:i93344EC2DB02D17A
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti16 – 161R → W in HPMRS3. 1 Publication
VAR_069664
Natural varianti99 – 991Y → C in HPMRS3. 1 Publication
VAR_069665
Natural varianti127 – 1271L → S in HPMRS3. 1 Publication
VAR_069666
Natural varianti160 – 1601T → I in HPMRS3. 1 Publication
VAR_069667
Natural varianti177 – 1771R → P in HPMRS3. 1 Publication
VAR_069668

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MARLGSTGGVSGRVVTQHRD SAPFLGAPRLGLRELGPIRG TAPEWHGRWNAAERSDKM in isoform 5.
VSP_053800
Alternative sequencei55 – 551G → GATPCRMFSAASQPLDPDGT LFRLRFTAMVWWAITFPVFG FFFCIIWSLVFHFEYTVATD CG in isoform 1.
VSP_032550
Alternative sequencei172 – 1754Missing in isoform 3 and isoform 5.
VSP_032551
Alternative sequencei176 – 23257DRKSY…MAFHM → VRSIPSGGSKAAQKKIKDIC PQDSGSQVLQLETAALHHQL HLLLLGAGCLLSAQHVL in isoform 4.
VSP_045984Add
BLAST
Alternative sequencei233 – 25422Missing in isoform 4.
VSP_045985Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti73 – 731Q → H in AAF19156. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF159615 mRNA. Translation: AAF12755.1.
BX379511 mRNA. No translation available.
AY373030 mRNA. Translation: AAQ75733.1.
AF159621
, AF159616, AF159617, AF159618, AF159619, AF159620 Genomic DNA. Translation: AAF19156.1.
AK292181 mRNA. Translation: BAF84870.1.
AC090587 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02569.1.
CH471158 Genomic DNA. Translation: EAX02568.1.
CH471158 Genomic DNA. Translation: EAX02571.1.
BC009930 mRNA. Translation: AAH09930.1.
AL096753 mRNA. Translation: CAB46428.3.
CCDSiCCDS44523.1. [Q9UHJ9-5]
CCDS58112.1. [Q9UHJ9-1]
CCDS58113.1. [Q9UHJ9-4]
CCDS7747.1. [Q9UHJ9-2]
PIRiT12505.
RefSeqiNP_001138910.1. NM_001145438.2. [Q9UHJ9-5]
NP_001243164.1. NM_001256235.1.
NP_001243165.1. NM_001256236.1.
NP_001243166.1. NM_001256237.1.
NP_001243167.1. NM_001256238.1. [Q9UHJ9-4]
NP_001243168.1. NM_001256239.1. [Q9UHJ9-3]
NP_001243169.1. NM_001256240.1. [Q9UHJ9-1]
NP_001269967.1. NM_001283038.1.
NP_001269968.1. NM_001283039.1.
NP_001269969.1. NM_001283040.1.
NP_055304.1. NM_014489.3. [Q9UHJ9-2]
XP_006718253.1. XM_006718190.1. [Q9UHJ9-1]
XP_006718254.1. XM_006718191.1. [Q9UHJ9-3]
UniGeneiHs.133968.

Genome annotation databases

EnsembliENST00000278243; ENSP00000278243; ENSG00000148985. [Q9UHJ9-2]
ENST00000300730; ENSP00000300730; ENSG00000148985.
ENST00000396991; ENSP00000380188; ENSG00000148985. [Q9UHJ9-2]
ENST00000463452; ENSP00000435223; ENSG00000148985. [Q9UHJ9-1]
ENST00000493547; ENSP00000431851; ENSG00000148985. [Q9UHJ9-4]
GeneIDi27315.
KEGGihsa:27315.
UCSCiuc001lyl.4. human. [Q9UHJ9-1]
uc021qcm.2. human. [Q9UHJ9-2]
uc031pyo.1. human. [Q9UHJ9-3]

Polymorphism databases

DMDMi544584767.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF159615 mRNA. Translation: AAF12755.1 .
BX379511 mRNA. No translation available.
AY373030 mRNA. Translation: AAQ75733.1 .
AF159621
, AF159616 , AF159617 , AF159618 , AF159619 , AF159620 Genomic DNA. Translation: AAF19156.1 .
AK292181 mRNA. Translation: BAF84870.1 .
AC090587 Genomic DNA. No translation available.
CH471158 Genomic DNA. Translation: EAX02569.1 .
CH471158 Genomic DNA. Translation: EAX02568.1 .
CH471158 Genomic DNA. Translation: EAX02571.1 .
BC009930 mRNA. Translation: AAH09930.1 .
AL096753 mRNA. Translation: CAB46428.3 .
CCDSi CCDS44523.1. [Q9UHJ9-5 ]
CCDS58112.1. [Q9UHJ9-1 ]
CCDS58113.1. [Q9UHJ9-4 ]
CCDS7747.1. [Q9UHJ9-2 ]
PIRi T12505.
RefSeqi NP_001138910.1. NM_001145438.2. [Q9UHJ9-5 ]
NP_001243164.1. NM_001256235.1.
NP_001243165.1. NM_001256236.1.
NP_001243166.1. NM_001256237.1.
NP_001243167.1. NM_001256238.1. [Q9UHJ9-4 ]
NP_001243168.1. NM_001256239.1. [Q9UHJ9-3 ]
NP_001243169.1. NM_001256240.1. [Q9UHJ9-1 ]
NP_001269967.1. NM_001283038.1.
NP_001269968.1. NM_001283039.1.
NP_001269969.1. NM_001283040.1.
NP_055304.1. NM_014489.3. [Q9UHJ9-2 ]
XP_006718253.1. XM_006718190.1. [Q9UHJ9-1 ]
XP_006718254.1. XM_006718191.1. [Q9UHJ9-3 ]
UniGenei Hs.133968.

3D structure databases

ProteinModelPortali Q9UHJ9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000278243.

Protein family/group databases

TCDBi 9.B.131.1.2. the post-gpi attachment protein (p-gap2) family.

Polymorphism databases

DMDMi 544584767.

Proteomic databases

MaxQBi Q9UHJ9.
PaxDbi Q9UHJ9.
PRIDEi Q9UHJ9.

Protocols and materials databases

DNASUi 27315.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000278243 ; ENSP00000278243 ; ENSG00000148985 . [Q9UHJ9-2 ]
ENST00000300730 ; ENSP00000300730 ; ENSG00000148985 .
ENST00000396991 ; ENSP00000380188 ; ENSG00000148985 . [Q9UHJ9-2 ]
ENST00000463452 ; ENSP00000435223 ; ENSG00000148985 . [Q9UHJ9-1 ]
ENST00000493547 ; ENSP00000431851 ; ENSG00000148985 . [Q9UHJ9-4 ]
GeneIDi 27315.
KEGGi hsa:27315.
UCSCi uc001lyl.4. human. [Q9UHJ9-1 ]
uc021qcm.2. human. [Q9UHJ9-2 ]
uc031pyo.1. human. [Q9UHJ9-3 ]

Organism-specific databases

CTDi 27315.
GeneCardsi GC11P003818.
H-InvDB HIX0009378.
HGNCi HGNC:17893. PGAP2.
HPAi HPA063099.
MIMi 614207. phenotype.
615187. gene.
neXtProti NX_Q9UHJ9.
Orphaneti 247262. Hyperphosphatasia-intellectual disability syndrome.
PharmGKBi PA165543520.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG309644.
HOGENOMi HOG000006821.
HOVERGENi HBG053417.
InParanoidi Q9UHJ9.
TreeFami TF314112.

Miscellaneous databases

GenomeRNAii 27315.
NextBioi 50319.
PROi Q9UHJ9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9UHJ9.
Bgeei Q9UHJ9.
Genevestigatori Q9UHJ9.

Family and domain databases

InterProi IPR019402. Frag1/DRAM/Sfk1.
[Graphical view ]
Pfami PF10277. Frag1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human FRAG1 encodes a novel membrane-spanning protein that localizes to chromosome 11p15.5, a region of frequent loss of heterozygosity in cancer."
    Lorenzi M.V., Castagnino P., Aaronson D.C., Lieb D.C., Lee C.C., Keck C.L., Popescu N.C., Miki T.
    Genomics 62:59-66(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
  2. "Full-length cDNA libraries and normalization."
    Li W.B., Gruber C., Jessee J., Polayes D.
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
    Tissue: Placenta.
  3. Zhou G., Yu R., Zhong G., Li H., Shen C., Zheng G., Ke R., Lin L., Yang S.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "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] (ISOFORM 1).
    Tissue: Mammary gland.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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] (ISOFORM 3).
    Tissue: Kidney.
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-55.
    Tissue: Testis.
  9. "Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability."
    Hansen L., Tawamie H., Murakami Y., Mang Y., ur Rehman S., Buchert R., Schaffer S., Muhammad S., Bak M., Nothen M.M., Bennett E.P., Maeda Y., Aigner M., Reis A., Kinoshita T., Tommerup N., Baig S.M., Abou Jamra R.
    Am. J. Hum. Genet. 92:575-583(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPMRS3 CYS-99 AND PRO-177, TOPOLOGY.
  10. "PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome."
    Krawitz P.M., Murakami Y., Riess A., Hietala M., Kruger U., Zhu N., Kinoshita T., Mundlos S., Hecht J., Robinson P.N., Horn D.
    Am. J. Hum. Genet. 92:584-589(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HPMRS3 TRP-16; SER-127 AND ILE-160.

Entry informationi

Entry nameiPGAP2_HUMAN
AccessioniPrimary (citable) accession number: Q9UHJ9
Secondary accession number(s): E9PJG5
, H7BXL9, Q6UC77, Q96G66, Q9UF01, Q9Y4N1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: September 18, 2013
Last modified: September 3, 2014
This is version 84 of the entry and version 2 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 11
    Human chromosome 11: 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

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